#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
SCNN1D	6339	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	1223338	1223338	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:1223338G>A	ENST00000338555.2	+	9	2235	c.1091G>A	c.(1090-1092)gGg>gAg	p.G364E	SCNN1D_ENST00000379116.5_Missense_Mutation_p.G528E|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G364E|SCNN1D_ENST00000325425.8_Missense_Mutation_p.G430E			P51172	SCNND_HUMAN	sodium channel, non-voltage-gated 1, delta subunit	364					ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ligand-gated sodium channel activity (GO:0015280)			lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	Amiloride(DB00594)|Triamterene(DB00384)	CACCGGCTCGGGAGCCCCTAC	0.706																																						.											0													6.0	8.0	8.0					1																	1223338		2002	3976	5978	SO:0001583	missense	6339			U38254	CCDS44037.1, CCDS44037.2	1p36.3-p36.2	2012-02-28	2012-02-28		ENSG00000162572	ENSG00000162572		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10601	protein-coding gene	gene with protein product		601328	"""sodium channel, nonvoltage-gated 1, delta"", ""sodium channel, non-voltage-gated 1, delta"""			8661065	Standard	NM_001130413		Approved	ENaCdelta, dNaCh	uc001adt.1	P51172	OTTHUMG00000002081	ENST00000338555.2:c.1091G>A	1.37:g.1223338G>A	ENSP00000339504:p.Gly364Glu		A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24	Missense_Mutation	SNP	ENST00000338555.2	37		.	.	.	.	.	.	.	.	.	.	G	14.55	2.568255	0.45798	.	.	ENSG00000162572	ENST00000379110;ENST00000379116;ENST00000338555;ENST00000325425;ENST00000400928	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	3.48	3.48	0.39840	.	0.000000	0.56097	U	0.000028	T	0.73385	0.3580	M	0.72118	2.19	0.29554	N	0.85113	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.976	T	0.71676	-0.4521	10	0.59425	D	0.04	.	14.3265	0.66523	0.0:0.0:1.0:0.0	.	186;364;528	B1AMF2;P51172;A6NNF7	.;SCNND_HUMAN;.	E	395;528;364;430;364	ENSP00000368411:G528E;ENSP00000339504:G364E;ENSP00000321594:G430E;ENSP00000383717:G364E	ENSP00000321594:G430E	G	+	2	0	SCNN1D	1213201	0.004000	0.15560	0.112000	0.21494	0.079000	0.17450	0.739000	0.26173	1.676000	0.50930	0.313000	0.20887	GGG		0.706	SCNN1D-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000005802.2	NM_002978	
ATAD3C	219293	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	1389871	1389871	+	Silent	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:1389871C>T	ENST00000378785.2	+	4	1364	c.369C>T	c.(367-369)caC>caT	p.H123H		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	123							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGCTGCGGCACCCCATCCAGG	0.667																																						.											0													20.0	33.0	29.0					1																	1389871		692	1591	2283	SO:0001819	synonymous_variant	219293			AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.369C>T	1.37:g.1389871C>T			Q8N1Z5	Silent	SNP	ENST00000378785.2	37	CCDS44039.1																																																																																				0.667	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001279.3	NM_001039211	
DFFA	1676	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	10527276	10527276	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:10527276T>C	ENST00000377038.3	-	3	479	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	DFFA_ENST00000377036.2_Missense_Mutation_p.I138V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	138					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|negative regulation of apoptotic DNA fragmentation (GO:1902511)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of apoptotic process (GO:0043065)|thymocyte apoptotic process (GO:0070242)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		AGGAGGATGATGCTGGACAGA	0.532																																						.											0													175.0	164.0	168.0					1																	10527276		2203	4300	6503	SO:0001583	missense	1676			AF087573	CCDS118.1, CCDS119.1	1p36.3-p36.2	2008-07-18	2002-08-29		ENSG00000160049	ENSG00000160049			2772	protein-coding gene	gene with protein product	"""DNA fragmentation factor, 45 kD, alpha subunit"""	601882	"""DNA fragmentation factor, 45 kD, alpha polypeptide"""			9605855, 9108473	Standard	NM_004401		Approved	DFF-45, DFF45, ICAD, DFF1	uc001arj.3	O00273	OTTHUMG00000001909	ENST00000377038.3:c.412A>G	1.37:g.10527276T>C	ENSP00000366237:p.Ile138Val		Q5T6G5|Q5T6G6|Q96I97|Q9Y6C6	Missense_Mutation	SNP	ENST00000377038.3	37	CCDS118.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235073	0.22626	.	.	ENSG00000160049	ENST00000377038;ENST00000377036	.	.	.	5.68	4.54	0.55810	DNA fragmentation factor 45kDa, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	M	0.70275	2.135	0.49213	D	0.99976	P;D	0.53745	0.828;0.962	B;P	0.53450	0.333;0.726	T	0.65092	-0.6252	9	0.33940	T	0.23	-14.4087	12.6113	0.56552	0.0:0.0:0.1389:0.8611	.	138;138	O00273-2;O00273	.;DFFA_HUMAN	V	138	.	ENSP00000366235:I138V	I	-	1	0	DFFA	10449863	1.000000	0.71417	1.000000	0.80357	0.119000	0.20118	3.677000	0.54619	0.967000	0.38186	-0.321000	0.08615	ATC		0.532	DFFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005418.1	NM_004401	
OR51M1	390059	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	5410780	5410780	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:5410780T>A	ENST00000328611.3	+	1	174	c.152T>A	c.(151-153)aTc>aAc	p.I51N	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	Q9H341	O51M1_HUMAN	olfactory receptor, family 51, subfamily M, member 1	51					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGTTGCCATCTCAGGCAAT	0.448																																						.											0													172.0	159.0	163.0					11																	5410780		1966	4154	6120	SO:0001583	missense	390059			BK004382	CCDS53596.1	11p15.4	2012-08-09			ENSG00000184698	ENSG00000184698		"""GPCR / Class A : Olfactory receptors"""	14847	protein-coding gene	gene with protein product							Standard	NM_001004756		Approved		uc010qzc.2	Q9H341	OTTHUMG00000066680	ENST00000328611.3:c.152T>A	11.37:g.5410780T>A	ENSP00000333196:p.Ile51Asn		Q6IF80	Missense_Mutation	SNP	ENST00000328611.3	37	CCDS53596.1	.	.	.	.	.	.	.	.	.	.	T	13.98	2.397591	0.42512	.	.	ENSG00000184698	ENST00000328611	T	0.00500	6.96	5.01	5.01	0.66863	.	0.000000	0.34411	U	0.003981	T	0.02342	0.0072	M	0.93062	3.375	0.31105	N	0.710601	D	0.64830	0.994	D	0.64042	0.921	T	0.00888	-1.1526	10	0.87932	D	0	.	13.6825	0.62493	0.0:0.0:0.0:1.0	.	40	Q9H341	O51M1_HUMAN	N	51	ENSP00000333196:I51N	ENSP00000333196:I51N	I	+	2	0	OR51M1	5367356	0.827000	0.29292	0.824000	0.32777	0.016000	0.09150	5.564000	0.67359	2.101000	0.63845	0.528000	0.53228	ATC		0.448	OR51M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142981.1	NM_001004756	
OR56A1	120796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	6048328	6048328	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:6048328T>C	ENST00000316650.5	-	1	643	c.607A>G	c.(607-609)Aga>Gga	p.R203G		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTAGATTCTGTTAAGGGTG	0.448																																						.											0													66.0	65.0	65.0					11																	6048328		2201	4296	6497	SO:0001583	missense	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.607A>G	11.37:g.6048328T>C	ENSP00000321246:p.Arg203Gly		B2RNI2|Q6IFL0	Missense_Mutation	SNP	ENST00000316650.5	37	CCDS31405.1	.	.	.	.	.	.	.	.	.	.	T	4.164	0.028925	0.08054	.	.	ENSG00000180934	ENST00000316650	T	0.00115	8.71	4.27	-1.51	0.08664	GPCR, rhodopsin-like superfamily (1);	0.169443	0.27961	N	0.017146	T	0.00210	0.0006	M	0.71036	2.16	0.09310	N	1	P	0.38250	0.624	P	0.48488	0.579	T	0.41662	-0.9496	10	0.33940	T	0.23	.	1.4257	0.02322	0.256:0.0839:0.2613:0.3987	.	203	Q8NGH5	O56A1_HUMAN	G	203	ENSP00000321246:R203G	ENSP00000321246:R203G	R	-	1	2	OR56A1	6004904	0.000000	0.05858	0.095000	0.20976	0.003000	0.03518	-0.319000	0.08039	-0.042000	0.13535	-0.336000	0.08194	AGA		0.448	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383757.1	NM_001001917	
C11orf80	79703	broad.mit.edu;hgsc.bcm.edu	37	11	66555695	66555696	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:66555695_66555696insA	ENST00000360962.4	+	5	595_596	c.588_589insA	c.(589-591)tctfs	p.S197fs	C11orf80_ENST00000540737.1_Frame_Shift_Ins_p.S31fs|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000346672.4_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000525449.2_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	197										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AAGGCAGCTATTCTCAGGATAT	0.401																																						.											0																																										SO:0001589	frameshift_variant	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	Exception_encountered	11.37:g.66555695_66555696insA	ENSP00000354227:p.Ser197fs		Q9H677	Frame_Shift_Ins	INS	ENST00000360962.4	37	CCDS53664.1																																																																																				0.401	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650	
DNM3	26052	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	1	172037991	172037991	+	Silent	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:172037991G>A	ENST00000355305.5	+	11	1525	c.1368G>A	c.(1366-1368)acG>acA	p.T456T	DNM3_ENST00000520906.1_Silent_p.T456T|DNM3_ENST00000367731.1_Silent_p.T456T|DNM3_ENST00000358155.4_Silent_p.T456T|DNM3_ENST00000367733.2_Silent_p.T456T			Q9UQ16	DYN3_HUMAN	dynamin 3	456					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCGAGGAAACGGAAAGGATTG	0.468																																						.											0													47.0	43.0	44.0					1																	172037991		1883	4101	5984	SO:0001819	synonymous_variant	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1368G>A	1.37:g.172037991G>A			A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Silent	SNP	ENST00000355305.5	37																																																																																					0.468	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
C12orf77	196415	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	12	25147251	25147251	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:25147251C>T	ENST00000549828.1	-	4	622	c.418G>A	c.(418-420)Gct>Act	p.A140T		NM_001101339.1	NP_001094809.1	C9JDV5	CL097_HUMAN	chromosome 12 open reading frame 77	140										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						ATTGTCATAGCATGATGTAGG	0.363																																						.											0													76.0	67.0	69.0					12																	25147251		1815	4071	5886	SO:0001583	missense	196415			BC046192	CCDS44846.1	12p12.1	2009-09-30			ENSG00000226397	ENSG00000226397			27282	protein-coding gene	gene with protein product						12477932	Standard	NM_001101339		Approved		uc001rgf.3	C9JDV5	OTTHUMG00000170185	ENST00000549828.1:c.418G>A	12.37:g.25147251C>T	ENSP00000447146:p.Ala140Thr			Missense_Mutation	SNP	ENST00000549828.1	37	CCDS44846.1	.	.	.	.	.	.	.	.	.	.	C	1.748	-0.489875	0.04322	.	.	ENSG00000226397	ENST00000549828	T	0.55052	0.54	0.225	0.225	0.15325	.	.	.	.	.	T	0.39627	0.1085	N	0.08118	0	0.09310	N	1	P	0.46395	0.877	P	0.51866	0.682	T	0.29579	-1.0007	8	0.87932	D	0	.	.	.	.	.	140	C9JDV5	CL097_HUMAN	T	140	ENSP00000447146:A140T	ENSP00000447146:A140T	A	-	1	0	C12orf77	25038518	0.002000	0.14202	0.017000	0.16124	0.026000	0.11368	0.265000	0.18515	0.300000	0.22699	0.305000	0.20034	GCT		0.363	C12orf77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407827.1	NM_001101339	
KRT3	3850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	53189775	53189775	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:53189775C>T	ENST00000417996.2	-	1	126	c.52G>A	c.(52-54)Ggc>Agc	p.G18S	KRT3_ENST00000309505.3_Missense_Mutation_p.G18S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	18	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGAGCGGCCGGAGAAACCC	0.622																																						.											0													26.0	33.0	31.0					12																	53189775		2202	4299	6501	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.52G>A	12.37:g.53189775C>T	ENSP00000413479:p.Gly18Ser		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942917	0.34283	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	T;T	0.80566	-1.39;-1.39	5.17	3.3	0.37823	.	0.000000	0.47852	D	0.000216	T	0.58935	0.2157	L	0.31526	0.94	0.25853	N	0.983919	P	0.42375	0.778	B	0.26864	0.074	T	0.51196	-0.8736	10	0.22109	T	0.4	.	6.36	0.21422	0.392:0.5193:0.0:0.0886	.	18	P12035	K2C3_HUMAN	S	18	ENSP00000413479:G18S;ENSP00000312206:G18S	ENSP00000312206:G18S	G	-	1	0	KRT3	51476042	0.001000	0.12720	0.323000	0.25347	0.947000	0.59692	0.061000	0.14366	0.651000	0.30788	0.561000	0.74099	GGC		0.622	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
PPP1CC	5501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	12	111160464	111160464	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:111160464C>T	ENST00000335007.5	-	5	750	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	PPP1CC_ENST00000550991.1_Missense_Mutation_p.R187Q|PPP1CC_ENST00000340766.5_Missense_Mutation_p.R187Q|PPP1CC_ENST00000551676.1_Missense_Mutation_p.R187Q|PPP1CC_ENST00000546933.1_Missense_Mutation_p.R196Q	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	187					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron differentiation (GO:0030182)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|large_intestine(2)|lung(3)	6						CATAATTCGCCGAATCTGCTC	0.393																																						.											0													78.0	74.0	76.0					12																	111160464		2203	4300	6503	SO:0001583	missense	5501				CCDS9150.1, CCDS58279.1	12q24.1-q24.2	2013-01-17	2010-03-05		ENSG00000186298	ENSG00000186298	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9283	protein-coding gene	gene with protein product		176914	"""protein phosphatase 1, catalytic subunit, gamma isoform"""				Standard	NM_002710		Approved	PP1C, PP1gamma	uc021rdx.1	P36873	OTTHUMG00000169531	ENST00000335007.5:c.560G>A	12.37:g.111160464C>T	ENSP00000335084:p.Arg187Gln			Missense_Mutation	SNP	ENST00000335007.5	37	CCDS9150.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563884	0.65651	.	.	ENSG00000186298	ENST00000335007;ENST00000340766;ENST00000550261;ENST00000551582;ENST00000553024;ENST00000546933;ENST00000550991;ENST00000551676	T;T;T;T;T	0.06371	3.31;3.31;3.31;3.31;3.31	5.79	2.98	0.34508	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.045683	0.85682	D	0.000000	T	0.08758	0.0217	M	0.66439	2.03	0.49798	D	0.999826	B	0.23490	0.086	B	0.16722	0.016	T	0.06625	-1.0816	10	0.62326	D	0.03	-0.2296	9.7321	0.40368	0.0:0.7557:0.1166:0.1277	.	187	P36873	PP1G_HUMAN	Q	187;187;46;5;5;196;187;187	ENSP00000335084:R187Q;ENSP00000341779:R187Q;ENSP00000447122:R196Q;ENSP00000448981:R187Q;ENSP00000448437:R187Q	ENSP00000335084:R187Q	R	-	2	0	PPP1CC	109644847	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.960000	0.70348	0.461000	0.27071	0.655000	0.94253	CGG		0.393	PPP1CC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404659.1		
RB1	5925	broad.mit.edu;hgsc.bcm.edu	37	13	49039350	49039359	+	Frame_Shift_Del	DEL	TTGTCACCAA	TTGTCACCAA	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTGTCACCAA	TTGTCACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:49039350_49039359delTTGTCACCAA	ENST00000267163.4	+	23	2473_2482	c.2335_2344delTTGTCACCAA	c.(2335-2346)ttgtcaccaatafs	p.LSPI779fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCCCCCTACCTTGTCACCAATACCTCACAT	0.381		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)																																								SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2335_2344delTTGTCACCAA	13.37:g.49039350_49039359delTTGTCACCAA	ENSP00000267163:p.Leu779fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
ITGA11	22801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	68624721	68624721	+	Silent	SNP	G	G	A	rs373616131		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr15:68624721G>A	ENST00000315757.7	-	13	1607	c.1521C>T	c.(1519-1521)aaC>aaT	p.N507N	ITGA11_ENST00000423218.2_Silent_p.N507N	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	507					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						CACGGCCCTCGTTGAAGTACA	0.597																																						.											0								G		0,4252		0,0,2126	38.0	40.0	39.0		1521	1.0	1.0	15		39	1,8453		0,1,4226	no	coding-synonymous	ITGA11	NM_001004439.1		0,1,6352	AA,AG,GG		0.0118,0.0,0.0079		507/1189	68624721	1,12705	2126	4227	6353	SO:0001819	synonymous_variant	22801			AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.1521C>T	15.37:g.68624721G>A			J3KQM2|Q8WYI8|Q9UKQ1	Silent	SNP	ENST00000315757.7	37	CCDS45291.1																																																																																				0.597	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_012211	
C16orf59	80178	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	2512477	2512477	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:2512477G>A	ENST00000361837.4	+	7	877	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	C16orf59_ENST00000563531.1_Missense_Mutation_p.R271Q|C16orf59_ENST00000569496.1_Missense_Mutation_p.R271Q|C16orf59_ENST00000483320.1_Missense_Mutation_p.R104Q|RP11-715J22.4_ENST00000566085.1_lincRNA|RP11-715J22.2_ENST00000563775.1_RNA	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	271										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GGGCGCCTGCGGAAGGCCTGC	0.662																																						.											0													20.0	25.0	23.0					16																	2512477		2069	4199	6268	SO:0001583	missense	80178			AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.812G>A	16.37:g.2512477G>A	ENSP00000355022:p.Arg271Gln		B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	8.289	0.817204	0.16607	.	.	ENSG00000162062	ENST00000361837	T	0.39592	1.07	4.52	-7.58	0.01313	.	1.914720	0.02825	N	0.126017	T	0.21347	0.0514	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.20887	0.049;0.002;0.002;0.002	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.13255	-1.0516	10	0.25751	T	0.34	-0.2455	14.8491	0.70284	0.7674:0.0:0.2326:0.0	.	104;271;104;104	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	Q	271	ENSP00000355022:R271Q	ENSP00000355022:R271Q	R	+	2	0	C16orf59	2452478	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.265000	0.08644	-1.645000	0.01515	-0.302000	0.09304	CGG		0.662	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108	
ADCY9	115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	16	4029168	4029168	+	Silent	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:4029168G>A	ENST00000294016.3	-	8	3166	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	876					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCAGTGCGGGAAGCGACA	0.582																																						.											0													128.0	121.0	124.0					16																	4029168		2197	4300	6497	SO:0001819	synonymous_variant	115			AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2628C>T	16.37:g.4029168G>A			A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																				0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
ACSM2A	123876	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	20497990	20497990	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:20497990G>A	ENST00000573854.1	+	14	1838	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	ACSM2A_ENST00000575690.1_Missense_Mutation_p.R575H|ACSM2A_ENST00000396104.2_Missense_Mutation_p.R575H|ACSM2A_ENST00000417235.2_Missense_Mutation_p.R496H|AC137056.1_ENST00000593357.1_5'Flank|ACSM2A_ENST00000536134.1_Missense_Mutation_p.R347H|ACSM2A_ENST00000219054.6_Missense_Mutation_p.R575H	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	575					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGAAAAGCCCGTGCGCAGTGA	0.463																																						.											0													187.0	176.0	180.0					16																	20497990		2203	4300	6503	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1724G>A	16.37:g.20497990G>A	ENSP00000459451:p.Arg575His		B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	9.595	1.127180	0.20959	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000536134;ENST00000396104	T;T;T;T	0.48836	0.8;0.82;1.34;0.82	2.88	-4.8	0.03190	.	.	.	.	.	T	0.25382	0.0617	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.06405	0.002	T	0.16276	-1.0408	9	0.49607	T	0.09	-0.2477	12.1986	0.54311	0.8314:0.0:0.1686:0.0	.	575	Q08AH3	ACS2A_HUMAN	H	496;575;347;575	ENSP00000392169:R496H;ENSP00000219054:R575H;ENSP00000445082:R347H;ENSP00000379411:R575H	ENSP00000219054:R575H	R	+	2	0	ACSM2A	20405491	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.368000	0.02580	-1.196000	0.02676	-0.667000	0.03836	CGT		0.463	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845	
MLYCD	23417	broad.mit.edu;hgsc.bcm.edu	37	16	83941751	83941752	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:83941751_83941752insA	ENST00000262430.4	+	3	681_682	c.662_663insA	c.(661-666)gtaaaafs	p.VK221fs	RP11-505K9.4_ENST00000566309.1_5'Flank|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	221	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GTGCATCCTGTAAAAAACTGGA	0.5																																						.											0																																										SO:0001589	frameshift_variant	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.668dupA	16.37:g.83941757_83941757dupA	ENSP00000262430:p.Val221fs		Q9UNU5|Q9Y3F2	Frame_Shift_Ins	INS	ENST00000262430.4	37	CCDS42206.1																																																																																				0.500	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213	
ZNF232	7775	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	5012951	5012951	+	Missense_Mutation	SNP	C	C	T	rs550026345		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:5012951C>T	ENST00000250076.3	-	3	890	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ZNF232_ENST00000575538.1_Intron|AC012146.7_ENST00000413077.1_RNA|ZNF232_ENST00000416429.2_Missense_Mutation_p.R52H|ZNF232_ENST00000575898.1_Missense_Mutation_p.R79H|AC012146.7_ENST00000571138.1_RNA	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	52	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						GAAGCGTTGGCGGAAGATCTC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19148	0.0		0.0	False		,,,				2504	0.001					.											0													167.0	136.0	146.0					17																	5012951		2203	4300	6503	SO:0001583	missense	7775			AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.236G>A	17.37:g.5012951C>T	ENSP00000250076:p.Arg79His			Missense_Mutation	SNP	ENST00000250076.3	37	CCDS11068.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575421	0.45902	.	.	ENSG00000167840	ENST00000250076;ENST00000416429	T;T	0.07444	3.19;3.19	3.0	-0.0854	0.13686	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.257236	0.20735	N	0.086644	T	0.17704	0.0425	M	0.73430	2.235	0.23254	N	0.998034	P;D;B;B	0.60160	0.903;0.987;0.12;0.098	P;P;B;B	0.58820	0.545;0.846;0.018;0.015	T	0.04307	-1.0961	10	0.59425	D	0.04	.	5.2561	0.15548	0.0:0.5949:0.0:0.4051	.	79;52;52;52	B4DNA7;B4DP49;Q9UNY5;Q9UNY5-2	.;.;ZN232_HUMAN;.	H	79;52	ENSP00000250076:R79H;ENSP00000416430:R52H	ENSP00000250076:R79H	R	-	2	0	ZNF232	4953675	0.004000	0.15560	0.932000	0.37286	0.973000	0.67179	0.096000	0.15147	0.022000	0.15160	0.561000	0.74099	CGC		0.542	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216915.1	NM_014519	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:7577609C>T	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGAGCCAACCTAGGAGATAA	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	GRCh37	CS011061	TP53	S							89.0	75.0	80.0					17																	7577609		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-1G>A	17.37:g.7577609C>T			Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808655	0.70797	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	71375627	71375627	+	Silent	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:71375627C>A	ENST00000392650.3	-	35	4824	c.4824G>T	c.(4822-4824)ggG>ggT	p.G1608G	SDK2_ENST00000388726.3_Silent_p.G1589G	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1608	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGCTGGAGGGCCCCTCACCCA	0.662																																						.											0													56.0	48.0	51.0					17																	71375627		2203	4299	6502	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.4824G>T	17.37:g.71375627C>A			A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1																																																																																				0.662	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064	
RPL18A	6142	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	19	17972198	17972198	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:17972198G>A	ENST00000222247.5	+	2	196	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	SNORA68_ENST00000384437.1_RNA|RPL18A_ENST00000599870.1_Missense_Mutation_p.V10I|RPL18A_ENST00000600147.1_Missense_Mutation_p.V39I|RPL18A_ENST00000599898.1_Intron	NM_000980.3	NP_000971.1	Q02543	RL18A_HUMAN	ribosomal protein L18a	39					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TAATCATGTCGTCGCCAAGTC	0.552																																						.											0													40.0	39.0	39.0					19																	17972198		2202	4279	6481	SO:0001583	missense	6142			AB007175	CCDS12367.1	19p13.11	2011-04-06			ENSG00000105640	ENSG00000105640		"""L ribosomal proteins"""	10311	protein-coding gene	gene with protein product	"""60S ribosomal protein L18a"", ""ribosomal protein L18a-like protein"""	604178				9582194	Standard	NM_000980		Approved	L18A	uc002nhp.3	Q02543		ENST00000222247.5:c.115G>A	19.37:g.17972198G>A	ENSP00000222247:p.Val39Ile			Missense_Mutation	SNP	ENST00000222247.5	37	CCDS12367.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851096	0.32699	.	.	ENSG00000105640	ENST00000420197;ENST00000222247	.	.	.	4.11	4.11	0.48088	Ribosomal protein L18a/LX (1);	0.000000	0.64402	U	0.000001	T	0.50000	0.1590	L	0.51422	1.61	0.80722	D	1	B	0.31519	0.327	B	0.27380	0.079	T	0.52801	-0.8527	9	0.38643	T	0.18	.	14.229	0.65879	0.0:0.0:1.0:0.0	.	39	Q02543	RL18A_HUMAN	I	39	.	ENSP00000222247:V39I	V	+	1	0	RPL18A	17833198	1.000000	0.71417	0.139000	0.22197	0.018000	0.09664	9.533000	0.98059	2.019000	0.59389	0.563000	0.77884	GTC		0.552	RPL18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466679.1	NM_000980	
LRRC25	126364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	18507174	18507174	+	Silent	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:18507174C>T	ENST00000339007.3	-	1	1253	c.600G>A	c.(598-600)gaG>gaA	p.E200E	LRRC25_ENST00000595840.1_Silent_p.E200E	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	200						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTTGTTCAGCTCCCGGCTTC	0.677																																						.											0													22.0	25.0	24.0					19																	18507174		2202	4300	6502	SO:0001819	synonymous_variant	126364			AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.600G>A	19.37:g.18507174C>T			Q6IQ00|Q8N9A5	Silent	SNP	ENST00000339007.3	37	CCDS12377.1																																																																																				0.677	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256	
ARHGAP29	9411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	94639723	94639723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:94639723C>T	ENST00000260526.6	-	23	3670	c.3488G>A	c.(3487-3489)tGg>tAg	p.W1163*	ARHGAP29_ENST00000482481.1_5'Flank	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	1163					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATGTTGTCCAATGTTGAGG	0.532																																						.											0													92.0	80.0	84.0					1																	94639723		2203	4300	6503	SO:0001587	stop_gained	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.3488G>A	1.37:g.94639723C>T	ENSP00000260526:p.Trp1163*		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Nonsense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	C	43	10.147914	0.99346	.	.	ENSG00000137962	ENST00000260526	.	.	.	5.49	5.49	0.81192	.	0.000000	0.36002	N	0.002860	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1193	19.3644	0.94456	0.0:1.0:0.0:0.0	.	.	.	.	X	1163	.	ENSP00000260526:W1163X	W	-	2	0	ARHGAP29	94412311	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.573000	0.74009	2.596000	0.87737	0.591000	0.81541	TGG		0.532	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
CTCFL	140690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	20	56087702	56087702	+	Silent	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:56087702A>G	ENST00000608263.1	-	7	2098	c.1437T>C	c.(1435-1437)acT>acC	p.T479T	CTCFL_ENST00000539382.1_Silent_p.T274T|CTCFL_ENST00000608425.1_Silent_p.T479T|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000609232.1_Silent_p.T479T|CTCFL_ENST00000243914.3_Silent_p.T479T|CTCFL_ENST00000502686.2_Silent_p.T217T|CTCFL_ENST00000608903.1_Silent_p.T217T|CTCFL_ENST00000423479.3_Silent_p.T479T|CTCFL_ENST00000371196.2_Silent_p.T479T|CTCFL_ENST00000608440.1_Silent_p.T479T|CTCFL_ENST00000429804.3_Silent_p.T429T|CTCFL_ENST00000422869.2_Silent_p.T479T|CTCFL_ENST00000608858.1_5'Flank|CTCFL_ENST00000433949.3_Silent_p.T274T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	479					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CATTCTTATGAGTTTTCTGGT	0.453																																						.											0													114.0	96.0	102.0					20																	56087702		2203	4300	6503	SO:0001819	synonymous_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1437T>C	20.37:g.56087702A>G			A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	CCDS13459.1																																																																																				0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	
KDELR3	11015	hgsc.bcm.edu	37	22	38877304	38877304	+	Frame_Shift_Del	DEL	A	A	-	rs144678116	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:38877304delA	ENST00000216014.4	+	4	611	c.439delA	c.(439-441)atafs	p.I147fs	KDELR3_ENST00000409006.3_Frame_Shift_Del_p.I147fs|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	147					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GGCTGAGACCATAACTACTCA	0.493																																					Ovarian(11;103 529 24120 28493 32980)	.											0													152.0	145.0	147.0					22																	38877304		2203	4300	6503	SO:0001589	frameshift_variant	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.439delA	22.37:g.38877304delA	ENSP00000216014:p.Ile147fs		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Frame_Shift_Del	DEL	ENST00000216014.4	37	CCDS13972.1																																																																																				0.493	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1		
LRPPRC	10128	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	44139675	44139675	+	Missense_Mutation	SNP	A	A	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:44139675A>T	ENST00000260665.7	-	30	3228	c.3171T>A	c.(3169-3171)aaT>aaA	p.N1057K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1057					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCTCTTTTGCATTCAGGAAAA	0.323																																						.											0													92.0	87.0	89.0					2																	44139675		2201	4297	6498	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3171T>A	2.37:g.44139675A>T	ENSP00000260665:p.Asn1057Lys		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	ENST00000260665.7	37	CCDS33189.1	.	.	.	.	.	.	.	.	.	.	A	0.088	-1.172635	0.01646	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.51325	0.71	5.78	3.09	0.35607	.	0.569792	0.20057	N	0.100168	T	0.11153	0.0272	N	0.00197	-1.87	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04495	-1.0947	10	0.15952	T	0.53	-6.7877	5.055	0.14527	0.2744:0.1053:0.0:0.6202	.	957;1057	F5H4J6;P42704	.;LPPRC_HUMAN	K	957;1057	ENSP00000260665:N1057K	ENSP00000260665:N1057K	N	-	3	2	LRPPRC	43993179	0.984000	0.35163	0.998000	0.56505	0.366000	0.29705	0.007000	0.13174	1.012000	0.39366	-0.275000	0.10095	AAT		0.323	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	
SLC15A2	6565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	3	121659851	121659851	+	Silent	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:121659851C>A	ENST00000489711.1	+	22	2575	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L	SLC15A2_ENST00000295605.2_Silent_p.L698L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	729					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	AGACAAAACTCTGATGACTCC	0.443																																						.											0													80.0	77.0	78.0					3																	121659851		2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.2187C>A	3.37:g.121659851C>A			A8K1A5|B4E2A7	Silent	SNP	ENST00000489711.1	37	CCDS3007.1																																																																																				0.443	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	
FAM162A	26355	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	122123174	122123174	+	Missense_Mutation	SNP	G	G	A	rs149572114		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:122123174G>A	ENST00000477892.1	+	3	311	c.227G>A	c.(226-228)cGc>cAc	p.R76H	FAM162A_ENST00000469967.1_Missense_Mutation_p.R76H|FAM162A_ENST00000232125.5_Missense_Mutation_p.R66H	NM_014367.3	NP_055182.3	Q96A26	F162A_HUMAN	family with sequence similarity 162, member A	76	Required for proapoptotic activity.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to hypoxia (GO:0071456)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						TGGTCAGGTCGCTTCAAAAAG	0.398													G|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0					.											0													89.0	86.0	87.0					3																	122123174		1900	4119	6019	SO:0001583	missense	26355			AF191020	CCDS43139.1	3q21.1	2008-06-05	2008-06-05	2008-06-05	ENSG00000114023	ENSG00000114023			17865	protein-coding gene	gene with protein product		608017	"""chromosome 3 open reading frame 28"""	C3orf28		11085516	Standard	NM_014367		Approved	E2IG5	uc003eez.3	Q96A26	OTTHUMG00000159494	ENST00000477892.1:c.227G>A	3.37:g.122123174G>A	ENSP00000419088:p.Arg76His		Q9NRN6|Q9UJX8	Missense_Mutation	SNP	ENST00000477892.1	37	CCDS43139.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.95	2.985201	0.53934	.	.	ENSG00000114023	ENST00000232125;ENST00000477892;ENST00000469967	T;T;T	0.39056	1.1;1.1;1.1	5.65	3.86	0.44501	.	0.347429	0.31601	N	0.007366	T	0.41305	0.1153	M	0.79805	2.47	0.29219	N	0.874058	P;P	0.49635	0.926;0.908	B;B	0.39935	0.314;0.146	T	0.51679	-0.8675	10	0.54805	T	0.06	.	7.2289	0.26030	0.0839:0.0:0.7487:0.1674	.	76;76	E9PH05;Q96A26	.;F162A_HUMAN	H	66;76;76	ENSP00000232125:R66H;ENSP00000419088:R76H;ENSP00000419491:R76H	ENSP00000232125:R66H	R	+	2	0	FAM162A	123605864	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.337000	0.59310	0.937000	0.37394	-0.140000	0.14226	CGC		0.398	FAM162A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355766.1	NM_014367	
COL6A5	256076	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	130098678	130098678	+	Missense_Mutation	SNP	G	G	C	rs532783006	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:130098678G>C	ENST00000432398.2	+	4	1579	c.1085G>C	c.(1084-1086)cGa>cCa	p.R362P	COL6A5_ENST00000265379.6_Missense_Mutation_p.R362P	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	362	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTGAACCTTCGACTGGAGGAT	0.483																																						.											0													140.0	115.0	122.0					3																	130098678		692	1591	2283	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.1085G>C	3.37:g.130098678G>C	ENSP00000390895:p.Arg362Pro		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.	.	.	.	.	.	.	.	.	.	G	7.854	0.724578	0.15439	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.81247	-1.47;-1.47	5.34	3.33	0.38152	.	.	.	.	.	D	0.91168	0.7218	M	0.90650	3.135	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83855	0.0265	9	0.72032	D	0.01	.	14.8051	0.69948	0.0:0.0:0.7277:0.2723	.	362	A8TX70-2	.	P	362	ENSP00000390895:R362P;ENSP00000265379:R362P	ENSP00000265379:R362P	R	+	2	0	COL6A5	131581368	0.988000	0.35896	0.063000	0.19743	0.048000	0.14542	4.397000	0.59690	1.242000	0.43836	0.455000	0.32223	CGA		0.483	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
CCSER1	401145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	91229575	91229575	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:91229575C>T	ENST00000509176.1	+	2	428	c.140C>T	c.(139-141)tCc>tTc	p.S47F	CCSER1_ENST00000333691.8_Missense_Mutation_p.S47F|CCSER1_ENST00000432775.2_Missense_Mutation_p.S47F	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	47	Ser-rich.																TCCTCTCCTTCCAGCACTAAC	0.453																																						.											0													120.0	112.0	115.0					4																	91229575		1987	4176	6163	SO:0001583	missense	401145				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.140C>T	4.37:g.91229575C>T	ENSP00000425040:p.Ser47Phe		Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.344682	0.82022	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.62364	0.48;0.03;0.48	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.75591	0.3870	L	0.48642	1.525	0.48762	D	0.999704	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.77013	-0.2745	10	0.87932	D	0	-12.7559	19.5936	0.95526	0.0:1.0:0.0:0.0	.	47;47;47	Q9C0I3-2;Q9C0I3;E7EUW0	.;F190A_HUMAN;.	F	47	ENSP00000425040:S47F;ENSP00000389283:S47F;ENSP00000329482:S47F	ENSP00000329482:S47F	S	+	2	0	FAM190A	91448598	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.221000	0.78016	2.793000	0.96121	0.655000	0.94253	TCC		0.453	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
GLRA1	2741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	151202298	151202298	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:151202298A>C	ENST00000455880.2	-	9	1596	c.1310T>G	c.(1309-1311)aTt>aGt	p.I437S	GLRA1_ENST00000274576.4_Missense_Mutation_p.I429S|GLRA1_ENST00000545569.1_Missense_Mutation_p.I346S			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	437					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATGTTGAAAATGAGGAAGGC	0.512																																						.											0													109.0	114.0	112.0					5																	151202298		2203	4300	6503	SO:0001583	missense	2741				CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.1310T>G	5.37:g.151202298A>C	ENSP00000411593:p.Ile437Ser		B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.920068	0.73098	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.86366	-2.11;-2.11;-2.11	5.03	5.03	0.67393	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.91310	0.7260	M	0.62088	1.915	0.58432	D	0.999999	D;D;P	0.57899	0.981;0.981;0.75	P;P;P	0.62382	0.901;0.901;0.697	D	0.92146	0.5724	10	0.66056	D	0.02	.	14.7566	0.69569	1.0:0.0:0.0:0.0	.	437;346;429	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	S	429;437;346	ENSP00000274576:I429S;ENSP00000411593:I437S;ENSP00000445913:I346S	ENSP00000274576:I429S	I	-	2	0	GLRA1	151182491	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.068000	0.93961	1.871000	0.54225	0.460000	0.39030	ATT		0.512	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1		
ZBED9	114821	hgsc.bcm.edu;ucsc.edu	37	6	28542931	28542931	+	Silent	SNP	A	A	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:28542931A>T	ENST00000452236.2	-	3	2168	c.1551T>A	c.(1549-1551)acT>acA	p.T517T	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTCACATGGAGTCTGTTGCA	0.423																																						.											0													134.0	131.0	132.0					6																	28542931		2203	4300	6503	SO:0001819	synonymous_variant	114821																														ENST00000452236.2:c.1551T>A	6.37:g.28542931A>T				Silent	SNP	ENST00000452236.2	37	CCDS34355.1																																																																																				0.423	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
SYNGAP1	8831	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	33405554	33405554	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:33405554A>C	ENST00000418600.2	+	8	973	c.872A>C	c.(871-873)tAt>tCt	p.Y291S	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.Y232S|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.Y291S|SYNGAP1_ENST00000496374.1_3'UTR|MIR5004_ENST00000579078.1_RNA	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	291	C2.				dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GACATGCTGTATGCACGCACC	0.617																																						.											0													84.0	86.0	85.0					6																	33405554		2203	4300	6503	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.872A>C	6.37:g.33405554A>C	ENSP00000403636:p.Tyr291Ser		A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	ENST00000418600.2	37	CCDS34434.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.013696	0.75161	.	.	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.38077	1.16;1.16;1.16	4.79	4.79	0.61399	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.142516	0.48767	D	0.000170	T	0.56108	0.1963	M	0.86343	2.81	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.88	D;D;D;P	0.87578	0.998;0.996;0.996;0.758	T	0.65364	-0.6186	10	0.87932	D	0	.	12.3329	0.55049	1.0:0.0:0.0:0.0	.	291;291;291;291	Q96PV0;Q96PV0-2;Q96PV0-4;B7ZCA0	SYGP1_HUMAN;.;.;.	S	291;291;291;232	ENSP00000293748:Y291S;ENSP00000403636:Y291S;ENSP00000412475:Y232S	ENSP00000293748:Y291S	Y	+	2	0	SYNGAP1	33513532	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.009000	0.58944	0.533000	0.62120	TAT		0.617	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076151.4	XM_166407	
LMTK2	22853	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	97820153	97820153	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:97820153C>T	ENST00000297293.5	+	10	1405	c.1112C>T	c.(1111-1113)cCg>cTg	p.P371L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	371	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACAAAACTCCCGAAGCCCCAG	0.488																																						.											0													164.0	180.0	175.0					7																	97820153		2203	4300	6503	SO:0001583	missense	22853			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.1112C>T	7.37:g.97820153C>T	ENSP00000297293:p.Pro371Leu		A4D272|Q75MG7|Q9UPS3	Missense_Mutation	SNP	ENST00000297293.5	37	CCDS5654.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579409	0.28180	.	.	ENSG00000164715	ENST00000297293	T	0.65364	-0.15	5.42	4.53	0.55603	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.291823	0.41823	D	0.000810	T	0.57257	0.2041	M	0.69248	2.105	0.45621	D	0.998552	B	0.17268	0.021	B	0.20767	0.031	T	0.54248	-0.8322	10	0.32370	T	0.25	.	9.522	0.39140	0.0:0.853:0.0:0.147	.	371	Q8IWU2	LMTK2_HUMAN	L	371	ENSP00000297293:P371L	ENSP00000297293:P371L	P	+	2	0	LMTK2	97658089	0.992000	0.36948	0.954000	0.39281	0.458000	0.32498	2.730000	0.47335	2.711000	0.92665	0.655000	0.94253	CCG		0.488	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334560.1	NM_014916	
UBE3C	9690	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	7	157041099	157041099	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:157041099C>T	ENST00000348165.5	+	19	2879	c.2519C>T	c.(2518-2520)gCa>gTa	p.A840V		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	840	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CTGCCCTTTGCAGGCTTCTTT	0.478																																						.											0													94.0	96.0	95.0					7																	157041099		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2519C>T	7.37:g.157041099C>T	ENSP00000309198:p.Ala840Val		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675491	0.88445	.	.	ENSG00000009335	ENST00000348165	T	0.58797	0.31	5.74	5.74	0.90152	HECT (4);	0.095457	0.64402	D	0.000001	T	0.77532	0.4144	M	0.76433	2.335	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.73708	0.981;0.981	T	0.78899	-0.2022	10	0.87932	D	0	.	19.9123	0.97029	0.0:1.0:0.0:0.0	.	840;693	Q15386;B4DHJ9	UBE3C_HUMAN;.	V	840	ENSP00000309198:A840V	ENSP00000309198:A840V	A	+	2	0	UBE3C	156733860	1.000000	0.71417	0.650000	0.29550	0.169000	0.22640	7.534000	0.82004	2.702000	0.92279	0.655000	0.94253	GCA		0.478	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
CSMD1	64478	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	2836315	2836315	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:2836315G>T	ENST00000520002.1	-	56	8943	c.8388C>A	c.(8386-8388)aaC>aaA	p.N2796K	CSMD1_ENST00000537824.1_Missense_Mutation_p.N2795K|CSMD1_ENST00000602723.1_Missense_Mutation_p.N2738K|CSMD1_ENST00000400186.3_Missense_Mutation_p.N2738K|CSMD1_ENST00000542608.1_Missense_Mutation_p.N2737K|CSMD1_ENST00000602557.1_Missense_Mutation_p.N2796K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2796	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GATCAGAACAGTTCACCACTA	0.383																																						.											0													54.0	49.0	50.0					8																	2836315		1863	4090	5953	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8388C>A	8.37:g.2836315G>T	ENSP00000430733:p.Asn2796Lys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.50|16.50	3.141734|3.141734	0.57044|0.57044	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Complement control module (2);Sushi/SCR/CCP (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.37293|0.37293	0.0998|0.0998	L|L	0.37697|0.37697	1.125|1.125	0.80722|0.80722	D|D	1|1	.|P;P;D	.|0.76494	.|0.702;0.901;0.999	.|B;P;D	.|0.87578	.|0.182;0.573;0.998	T|T	0.06534|0.06534	-1.0821|-1.0821	5|10	.|0.42905	.|T	.|0.14	.|.	9.4393|9.4393	0.38659|0.38659	0.158:0.0:0.842:0.0|0.158:0.0:0.842:0.0	.|.	.|2796;2796;2737	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	M|K	2213|2738;2796;2657;2795;2737	.|ENSP00000383047:N2738K;ENSP00000430733:N2796K;ENSP00000441462:N2795K;ENSP00000446243:N2737K	.|ENSP00000320445:N2657K	L|N	-|-	1|3	2|2	CSMD1|CSMD1	2823722|2823722	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.544000|0.544000	0.35116|0.35116	5.212000|5.212000	0.65225|0.65225	2.400000|2.400000	0.81607|0.81607	0.563000|0.563000	0.77884|0.77884	CTG|AAC		0.383	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
GLDC	2731	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	6536228	6536228	+	Missense_Mutation	SNP	C	C	T	rs146939116		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:6536228C>T	ENST00000321612.6	-	23	2824	c.2674G>A	c.(2674-2676)Gcc>Acc	p.A892T		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	892					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|glycine dehydrogenase (decarboxylating) activity (GO:0004375)|lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)	ATGGTAGGGGCGTGAAATCCT	0.527																																						.											0								C	THR/ALA	0,4406		0,0,2203	34.0	29.0	31.0		2674	5.2	1.0	9	dbSNP_134	31	1,8599	1.2+/-3.3	0,1,4299	no	missense	GLDC	NM_000170.2	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	892/1021	6536228	1,13005	2203	4300	6503	SO:0001583	missense	2731			D90239	CCDS34987.1	9p22	2014-09-17	2006-05-22		ENSG00000178445	ENSG00000178445	1.4.4.2		4313	protein-coding gene	gene with protein product	"""glycine cleavage system protein P"", ""glycine decarboxylase"""	238300	"""glycine dehydrogenase (decarboxylating; glycine decarboxylase, glycine cleavage system protein P)"""			1993704, 1996985	Standard	NM_000170		Approved	GCSP, NKH	uc003zkc.3	P23378	OTTHUMG00000019524	ENST00000321612.6:c.2674G>A	9.37:g.6536228C>T	ENSP00000370737:p.Ala892Thr		Q2M2F8	Missense_Mutation	SNP	ENST00000321612.6	37	CCDS34987.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360114	0.95877	0.0	1.16E-4	ENSG00000178445	ENST00000321612	D	0.98178	-4.77	5.21	5.21	0.72293	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99336	0.9767	H	0.98199	4.17	0.80722	D	1	D	0.76494	0.999	P	0.60949	0.881	D	0.98633	1.0672	10	0.87932	D	0	-17.3811	19.1172	0.93346	0.0:1.0:0.0:0.0	.	892	P23378	GCSP_HUMAN	T	892	ENSP00000370737:A892T	ENSP00000370737:A892T	A	-	1	0	GLDC	6526228	1.000000	0.71417	0.998000	0.56505	0.924000	0.55760	7.388000	0.79795	2.587000	0.87381	0.305000	0.20034	GCC		0.527	GLDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051674.2	NM_000170	
PRKAG3	53632	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	219695480	219695480	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:219695480C>A	ENST00000529249.1	-	3	533	c.218G>T	c.(217-219)gGt>gTt	p.G73V	PRKAG3_ENST00000392098.3_Missense_Mutation_p.G73V|PRKAG3_ENST00000439262.2_Missense_Mutation_p.G48V|PRKAG3_ENST00000545803.1_Splice_Site			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	73					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	TTCCCCCTGACCTGGTGGCTC	0.617																																						.											0													137.0	114.0	122.0					2																	219695480		2203	4300	6503	SO:0001583	missense	53632			AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.218G>T	2.37:g.219695480C>A	ENSP00000436068:p.Gly73Val		Q4QQG8|Q4V779|Q9NRL1	Missense_Mutation	SNP	ENST00000529249.1	37	CCDS2424.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.727|1.727	-0.495088|-0.495088	0.04322|0.04322	.|.	.|.	ENSG00000115592|ENSG00000115592	ENST00000430489|ENST00000439262;ENST00000529249;ENST00000392098	.|D;D;T	.|0.82167	.|-1.57;-1.58;0.22	4.78|4.78	-0.676|-0.676	0.11361|0.11361	.|.	.|0.335926	.|0.25222	.|N	.|0.032231	.|T	.|0.72630	.|0.3484	L|L	0.32530|0.32530	0.975|0.975	0.19300|0.19300	N|N	0.99998|0.99998	.|P;P	.|0.51351	.|0.944;0.908	.|P;B	.|0.49140	.|0.601;0.397	.|T	.|0.65001	.|-0.6274	.|10	.|0.72032	.|D	.|0.01	.|-4.8259	0.6602|0.6602	0.00841|0.00841	0.1784:0.358:0.1546:0.3091|0.1784:0.358:0.1546:0.3091	.|.	.|48;73	.|Q9UGI9-2;Q9UGI9	.|.;AAKG3_HUMAN	.|V	-1|48;73;73	.|ENSP00000397133:G48V;ENSP00000436068:G73V;ENSP00000375947:G73V	.|ENSP00000233944:G73V	.|G	-|-	.|2	.|0	PRKAG3|PRKAG3	219403724|219403724	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.165000|0.165000	0.22458|0.22458	-0.625000|-0.625000	0.05534|0.05534	0.116000|0.116000	0.18110|0.18110	0.655000|0.655000	0.94253|0.94253	.|GGT		0.617	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1		
CCHCR1	54535	broad.mit.edu;hgsc.bcm.edu	37	6	31122478	31122478	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:31122478A>G	ENST00000376266.5	-	4	451	c.329T>C	c.(328-330)cTc>cCc	p.L110P	CCHCR1_ENST00000396268.3_Missense_Mutation_p.L199P|CCHCR1_ENST00000451521.2_Missense_Mutation_p.L163P|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000396263.2_Missense_Mutation_p.L110P	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	110					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTCCCGCAGGAGCCGGACCTC	0.687																																						.											0													37.0	44.0	41.0					6																	31122478		1507	2709	4216	SO:0001583	missense	54535			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.329T>C	6.37:g.31122478A>G	ENSP00000365442:p.Leu110Pro		A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	ENST00000376266.5	37	CCDS4695.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.664623	0.29604	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521;ENST00000448141;ENST00000508683;ENST00000448162;ENST00000513222;ENST00000503420;ENST00000515274;ENST00000507751;ENST00000455279;ENST00000412245;ENST00000503934;ENST00000426967;ENST00000502557;ENST00000507829	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81	4.8	-6.7	0.01766	.	1.580850	0.03945	N	0.287466	T	0.01627	0.0052	N	0.22421	0.69	0.09310	N	0.999998	P;P;P;P;P	0.48407	0.583;0.523;0.523;0.91;0.666	B;B;B;P;B	0.48089	0.378;0.305;0.305;0.566;0.261	T	0.25257	-1.0137	10	0.27082	T	0.32	0.1774	10.2498	0.43362	0.2359:0.14:0.6242:0.0	.	110;110;110;163;199	B4DIA2;A8K081;Q8TD31;E9PE84;Q8TD31-2	.;.;CCHCR_HUMAN;.;.	P	199;110;110;110;163;74;74;110;84;74;110;110;110;136;110;208;110;110	ENSP00000379566:L199P;ENSP00000365442:L110P;ENSP00000379561:L110P;ENSP00000401039:L163P;ENSP00000414323:L74P;ENSP00000421393:L74P;ENSP00000390027:L110P;ENSP00000425682:L84P;ENSP00000421992:L74P;ENSP00000420941:L110P;ENSP00000398715:L110P;ENSP00000425595:L110P;ENSP00000402432:L208P;ENSP00000425377:L110P;ENSP00000420911:L110P	ENSP00000365442:L110P	L	-	2	0	CCHCR1	31230457	0.000000	0.05858	0.027000	0.17364	0.413000	0.31143	-0.838000	0.04372	-1.150000	0.02840	-0.312000	0.09012	CTC		0.687	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	NM_019052	
ADAMTSL1	92949	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	18706839	18706839	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:18706839C>T	ENST00000380548.4	+	14	2008	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	ADAMTSL1_ENST00000276935.6_Nonsense_Mutation_p.Q557*	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	557	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTCTTTCTCTCAGTCCGTGGC	0.602																																						.											0													52.0	42.0	46.0					9																	18706839		2203	4300	6503	SO:0001587	stop_gained	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1669C>T	9.37:g.18706839C>T	ENSP00000369921:p.Gln557*		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Nonsense_Mutation	SNP	ENST00000380548.4	37	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	C	44	11.226218	0.99534	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	.	.	.	X	557	.	ENSP00000276935:Q557X	Q	+	1	0	ADAMTSL1	18696839	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.739000	0.84976	2.724000	0.93272	0.563000	0.77884	CAG		0.602	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1		
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gagaaafs	p.K25fs	RERE_ENST00000400907.2_Frame_Shift_Del_p.K25fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.K25fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	25					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505																																						.											0																																										SO:0001589	frameshift_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.72_73delGA	1.37:g.8716294_8716295delTC	ENSP00000338629:p.Lys25fs		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	CCDS95.1																																																																																				0.505	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
ST6GALNAC5	81849	broad.mit.edu	37	1	77334277	77334279	+	In_Frame_Del	DEL	GCA	GCA	-	rs113832855|rs373434974		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GCA	GCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:77334277_77334279delGCA	ENST00000477717.1	+	2	346_348	c.111_113delGCA	c.(109-114)ccgcag>ccg	p.Q49del	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	49	Poly-Gln.				glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						AGCGGCCCCCgcagcagcagcag	0.7																																						.											0										633,280,2837		87,67,392,25,163,1141						-1.1	1.0		dbSNP_132	16	606,89,6499		39,5,523,5,74,2951	no	codingComplex	ST6GALNAC5	NM_030965.1		126,72,915,30,237,4092	A1A1,A1A2,A1R,A2A2,A2R,RR		9.6608,24.3467,14.693				1239,369,9336				SO:0001651	inframe_deletion	81849				CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.111_113delGCA	1.37:g.77334286_77334288delGCA	ENSP00000417583:p.Gln49del		B1AK82	In_Frame_Del	DEL	ENST00000477717.1	37	CCDS673.1																																																																																				0.700	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965	
APH1A	51107	broad.mit.edu;mdanderson.org	37	1	150240152	150240152	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:150240152C>T	ENST00000369109.3	-	3	510	c.322G>A	c.(322-324)Gga>Aga	p.G108R	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000360244.4_Missense_Mutation_p.G108R	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	108					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTGATCTTCCGTCCTCACTC	0.592																																						.											0													43.0	48.0	46.0					1																	150240152		1978	4159	6137	SO:0001583	missense	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.322G>A	1.37:g.150240152C>T	ENSP00000358105:p.Gly108Arg		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	ENST00000369109.3	37	CCDS41390.1	.	.	.	.	.	.	.	.	.	.	C	16.39	3.109966	0.56398	.	.	ENSG00000117362	ENST00000369109;ENST00000360244;ENST00000236017	T;T;T	0.42513	0.97;0.97;0.97	4.98	4.98	0.66077	.	0.066696	0.64402	D	0.000012	T	0.43634	0.1256	L	0.59436	1.845	0.80722	D	1	D;P;P;D	0.71674	0.998;0.873;0.896;0.994	P;B;P;P	0.59056	0.851;0.386;0.52;0.826	T	0.15636	-1.0430	10	0.18276	T	0.48	-2.8055	15.7897	0.78345	0.0:1.0:0.0:0.0	.	51;108;108;108	B4DUG7;Q96BI3-2;Q5TB22;Q96BI3	.;.;.;APH1A_HUMAN	R	108;108;51	ENSP00000358105:G108R;ENSP00000353380:G108R;ENSP00000236017:G51R	ENSP00000236017:G51R	G	-	1	0	APH1A	148506776	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.583000	0.87209	0.491000	0.48974	GGA		0.592	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022	
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						.											0										1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418			AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT			A8K6W5|O94862|Q8NCD7|Q8WUR5	Splice_Site	DEL	ENST00000310358.7	37																																																																																					0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584	
PTPN5	84867	broad.mit.edu;mdanderson.org	37	11	18755149	18755149	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:18755149T>C	ENST00000358540.2	-	10	1464	c.1034A>G	c.(1033-1035)gAc>gGc	p.D345G	PTPN5_ENST00000396167.2_Missense_Mutation_p.D313G|PTPN5_ENST00000477854.1_Missense_Mutation_p.D149G|PTPN5_ENST00000396170.1_Missense_Mutation_p.D313G|PTPN5_ENST00000396166.3_5'Flank|PTPN5_ENST00000396168.1_Missense_Mutation_p.D321G|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396171.4_Missense_Mutation_p.D345G	NM_006906.1	NP_008837.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	345	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GTCGTCAGGGTCTGGTGAGGT	0.592																																						.											0													183.0	169.0	174.0					11																	18755149		2199	4293	6492	SO:0001583	missense	84867			BC064807	CCDS7845.1, CCDS41626.1, CCDS60746.1	11p15.1	2011-06-09			ENSG00000110786	ENSG00000110786		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9657	protein-coding gene	gene with protein product		176879				1714595	Standard	NM_001278236		Approved	STEP, PTPSTEP	uc001mpc.4	P54829	OTTHUMG00000134304	ENST00000358540.2:c.1034A>G	11.37:g.18755149T>C	ENSP00000351342:p.Asp345Gly		B3KXG7|B7Z386|B7ZAF5|D3DQY7|Q6P1Z2|Q8N2A1|Q8NDP8	Missense_Mutation	SNP	ENST00000358540.2	37	CCDS7845.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.187674	0.78789	.	.	ENSG00000110786	ENST00000477854;ENST00000358540;ENST00000396170;ENST00000396171;ENST00000396167;ENST00000396168	D;D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65;-1.65	5.67	5.67	0.87782	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.058671	0.64402	D	0.000003	T	0.79604	0.4474	N	0.17345	0.48	0.53688	D	0.999974	B;P	0.49961	0.012;0.93	B;P	0.51101	0.035;0.659	T	0.81395	-0.0952	10	0.45353	T	0.12	.	15.9204	0.79562	0.0:0.0:0.0:1.0	.	345;313	P54829;B3KXG7	PTN5_HUMAN;.	G	149;345;313;345;313;321	ENSP00000435056:D149G;ENSP00000351342:D345G;ENSP00000379473:D313G;ENSP00000379474:D345G;ENSP00000379470:D313G;ENSP00000379471:D321G	ENSP00000351342:D345G	D	-	2	0	PTPN5	18711725	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	2.457000	0.45005	2.164000	0.68074	0.533000	0.62120	GAC		0.592	PTPN5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259196.2	NM_001039970	
DGKZ	8525	broad.mit.edu	37	11	46398729	46398730	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:46398729_46398730delCT	ENST00000454345.1	+	26	2998_2999	c.2873_2874delCT	c.(2872-2874)cctfs	p.P958fs	MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000527911.1_Frame_Shift_Del_p.P770fs|DGKZ_ENST00000528615.1_Frame_Shift_Del_p.P548fs|DGKZ_ENST00000318201.8_Frame_Shift_Del_p.P747fs|DGKZ_ENST00000532868.2_Frame_Shift_Del_p.P774fs|DGKZ_ENST00000421244.2_Frame_Shift_Del_p.P770fs|DGKZ_ENST00000343674.6_Frame_Shift_Del_p.P786fs|DGKZ_ENST00000395574.3_Frame_Shift_Del_p.P736fs|DGKZ_ENST00000543978.1_Frame_Shift_Del_p.P122fs|DGKZ_ENST00000456247.2_Frame_Shift_Del_p.P769fs	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	958					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)		CCCACTTCCCCTCTCCCCACCT	0.624																																						.											0																																										SO:0001589	frameshift_variant	8525			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.2873_2874delCT	11.37:g.46398731_46398732delCT	ENSP00000412178:p.Pro958fs		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Frame_Shift_Del	DEL	ENST00000454345.1	37	CCDS41640.1																																																																																				0.624	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540	
OR1S1	219959	broad.mit.edu;mdanderson.org	37	11	57982580	57982580	+	Missense_Mutation	SNP	G	G	A	rs147498041		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:57982580G>A	ENST00000309433.6	+	1	364	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGTGTTTGTCGTCATTGACAA	0.453													G|||	1	0.000199681	0.0	0.0	5008	,	,		22244	0.0		0.0	False		,,,				2504	0.001					.											0								G	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	182.0	171.0	175.0		364	3.5	0.3	11	dbSNP_134	175	2,8590	2.2+/-6.3	0,2,4294	no	missense	OR1S1	NM_001004458.1	29	0,3,6494	AA,AG,GG		0.0233,0.0227,0.0231	possibly-damaging	122/326	57982580	3,12991	2201	4296	6497	SO:0001583	missense	219959			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.364G>A	11.37:g.57982580G>A	ENSP00000311688:p.Val122Ile		Q6IFG3	Missense_Mutation	SNP	ENST00000309433.6	37	CCDS31546.1	.	.	.	.	.	.	.	.	.	.	G	0.524	-0.860938	0.02610	2.27E-4	2.33E-4	ENSG00000172774	ENST00000309433	T	0.03004	4.08	3.45	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.546164	0.15053	N	0.283208	T	0.02418	0.0074	N	0.10916	0.065	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.45440	-0.9261	10	0.22109	T	0.4	.	11.1634	0.48528	0.0:0.0:0.8158:0.1842	.	122	Q8NH92	OR1S1_HUMAN	I	122	ENSP00000311688:V122I	ENSP00000311688:V122I	V	+	1	0	OR1S1	57739156	0.000000	0.05858	0.349000	0.25694	0.286000	0.27126	-0.525000	0.06214	1.770000	0.52166	0.479000	0.44913	GTC		0.453	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394705.1	NM_001004458	
CATSPER1	117144	broad.mit.edu	37	11	65792709	65792709	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:65792709delA	ENST00000312106.5	-	1	1279	c.1142delT	c.(1141-1143)gtcfs	p.V381fs		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	381					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGGGTATGGACTTTTTTGGA	0.537																																						.											0													134.0	117.0	123.0					11																	65792709		2201	4296	6497	SO:0001589	frameshift_variant	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.1142delT	11.37:g.65792709delA	ENSP00000309052:p.Val381fs		Q96P76	Frame_Shift_Del	DEL	ENST00000312106.5	37	CCDS8127.1																																																																																				0.537	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391055.1	NM_053054	
TAS2R10	50839	broad.mit.edu;mdanderson.org	37	12	10978222	10978222	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:10978222T>C	ENST00000240619.2	-	1	735	c.647A>G	c.(646-648)gAc>gGc	p.D216G		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	216					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGTGTTGGAGTCTCTCAATCC	0.348																																						.											0													110.0	107.0	108.0					12																	10978222		2203	4300	6503	SO:0001583	missense	50839			AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.647A>G	12.37:g.10978222T>C	ENSP00000240619:p.Asp216Gly		Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	37	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167375	0.57476	.	.	ENSG00000121318	ENST00000240619	T	0.37411	1.2	4.81	4.81	0.61882	.	0.445268	0.21042	N	0.081146	T	0.69061	0.3069	H	0.94264	3.515	0.21719	N	0.999578	D	0.76494	0.999	D	0.83275	0.996	T	0.67193	-0.5732	10	0.87932	D	0	.	12.5979	0.56481	0.0:0.0:0.0:1.0	.	216	Q9NYW0	T2R10_HUMAN	G	216	ENSP00000240619:D216G	ENSP00000240619:D216G	D	-	2	0	TAS2R10	10869489	0.010000	0.17322	0.049000	0.19019	0.012000	0.07955	1.853000	0.39358	1.930000	0.55929	0.477000	0.44152	GAC		0.348	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
FMNL3	91010	broad.mit.edu	37	12	50042932	50042932	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:50042932T>C	ENST00000293590.5	-	21	2628	c.2395A>G	c.(2395-2397)Acc>Gcc	p.T799A	FMNL3_ENST00000335154.5_Missense_Mutation_p.T799A|FMNL3_ENST00000550488.1_Missense_Mutation_p.T799A|FMNL3_ENST00000352151.5_Missense_Mutation_p.T748A			Q8IVF7	FMNL3_HUMAN	formin-like 3	799	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GTGGACTTGGTATCCAGCAGC	0.572																																						.											0													124.0	134.0	131.0					12																	50042932		2105	4233	6338	SO:0001583	missense	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2395A>G	12.37:g.50042932T>C	ENSP00000293590:p.Thr799Ala		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	T	24.4	4.531648	0.85706	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.44	5.44	0.79542	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.50820	0.1638	M	0.85859	2.78	0.80722	D	1	D;D;D	0.69078	0.995;0.99;0.997	D;D;D	0.79108	0.941;0.98;0.992	T	0.57370	-0.7823	10	0.62326	D	0.03	.	14.7946	0.69868	0.0:0.0:0.0:1.0	.	748;799;799	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	A	799;799;748;799	ENSP00000335655:T799A;ENSP00000447479:T799A;ENSP00000344311:T748A;ENSP00000293590:T799A	ENSP00000293590:T799A	T	-	1	0	FMNL3	48329199	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.934000	0.87649	2.199000	0.70637	0.533000	0.62120	ACC		0.572	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	
ATP5EP2	432369	broad.mit.edu	37	13	28519639	28519639	+	3'UTR	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:28519639T>C	ENST00000381026.3	+	0	297							Q5VTU8	AT5EL_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2						ATP synthesis coupled proton transport (GO:0015986)	mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			ovary(1)	1						GGATCTCATTTCATGGGAAAA	0.318																																						.											0																																										SO:0001624	3_prime_UTR_variant	432369			EC567419		13q12	2008-10-21			ENSG00000180389	ENSG00000180389			34026	pseudogene	pseudogene							Standard	NR_002162		Approved		uc001uru.3	Q5VTU8	OTTHUMG00000016642	ENST00000381026.3:c.*87T>C	13.37:g.28519639T>C				RNA	SNP	ENST00000381026.3	37																																																																																					0.318	ATP5EP2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000044314.1	NR_002162	
KLHDC2	23588	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	50244621	50244621	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:50244621G>A	ENST00000298307.5	+	4	1277	c.416G>A	c.(415-417)gGa>gAa	p.G139E	KLHDC2_ENST00000554589.1_Missense_Mutation_p.G139E|KLHDC2_ENST00000557247.1_Missense_Mutation_p.G139E|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	139						nucleus (GO:0005634)				endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GATTGCCAAGGAATTCCTCCA	0.388																																						.											0													128.0	121.0	123.0					14																	50244621		2203	4300	6503	SO:0001583	missense	23588			AK001771	CCDS9693.1	14q21.3	2003-01-15			ENSG00000165516	ENSG00000165516			20231	protein-coding gene	gene with protein product		611280				11384994	Standard	NM_014315		Approved	HCLP-1, LCP	uc001wwx.3	Q9Y2U9	OTTHUMG00000140288	ENST00000298307.5:c.416G>A	14.37:g.50244621G>A	ENSP00000298307:p.Gly139Glu		B3KPF9|Q6IAF0|Q86TY9	Missense_Mutation	SNP	ENST00000298307.5	37	CCDS9693.1	.	.	.	.	.	.	.	.	.	.	G	32	5.166146	0.94768	.	.	ENSG00000165516	ENST00000298307;ENST00000554589;ENST00000557247	T;T;T	0.68765	-0.35;-0.35;-0.35	5.74	5.74	0.90152	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83524	0.5273	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;1.0;0.998	D	0.85024	0.0913	10	0.87932	D	0	-18.9077	18.9112	0.92485	0.0:0.0:1.0:0.0	.	139;139;139	G3V2H2;G3V3U8;Q9Y2U9	.;.;KLDC2_HUMAN	E	139	ENSP00000298307:G139E;ENSP00000451439:G139E;ENSP00000450658:G139E	ENSP00000298307:G139E	G	+	2	0	KLHDC2	49314371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.717000	0.92951	0.655000	0.94253	GGA		0.388	KLHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276869.1		
CYLD	1540	broad.mit.edu;mdanderson.org	37	16	50825539	50825539	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:50825539G>A	ENST00000427738.3	+	14	2384	c.2179G>A	c.(2179-2181)Gtt>Att	p.V727I	CYLD_ENST00000569418.1_Missense_Mutation_p.V724I|CYLD_ENST00000568704.2_Missense_Mutation_p.V542I|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.V724I|CYLD_ENST00000398568.2_Missense_Mutation_p.V724I|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000564326.1_Missense_Mutation_p.V724I|CYLD_ENST00000540145.1_Missense_Mutation_p.V727I|CYLD_ENST00000311559.9_Missense_Mutation_p.V727I			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	727	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAAAGTTGGCGTTCCCACAAT	0.343			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													.	yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													100.0	95.0	97.0					16																	50825539		1821	4072	5893	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2179G>A	16.37:g.50825539G>A	ENSP00000392025:p.Val727Ile		O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384758	0.61956	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.73152	-0.72;-0.72;-0.72	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	L	0.59436	1.845	0.80722	D	1	B;B	0.28470	0.213;0.178	B;B	0.23018	0.043;0.017	T	0.63242	-0.6681	10	0.38643	T	0.18	-24.6854	12.6285	0.56644	0.0756:0.0:0.9244:0.0	.	724;724	A8KAB0;Q9NQC7-2	.;.	I	727;727;724;724	ENSP00000445447:V727I;ENSP00000308928:V727I;ENSP00000381574:V724I	ENSP00000308928:V727I	V	+	1	0	CYLD	49383040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.476000	0.97823	2.562000	0.86427	0.650000	0.86243	GTT		0.343	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
LGALS9C	654346	broad.mit.edu	37	17	18387252	18387252	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:18387252delG	ENST00000328114.6	+	2	184	c.103delG	c.(103-105)gggfs	p.G35fs	LGALS9C_ENST00000584941.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000581545.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000583322.1_Frame_Shift_Del_p.G35fs|LGALS9C_ENST00000578983.1_3'UTR	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	35	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CACTGTCAATGGGGCCGTTCT	0.567																																						.											0													160.0	109.0	127.0					17																	18387252		2132	3739	5871	SO:0001589	frameshift_variant	654346				CCDS32587.1	17p11.2	2011-08-04			ENSG00000171916	ENSG00000171916		"""Lectins, galactoside-binding"""	33874	protein-coding gene	gene with protein product							Standard	NM_001040078		Approved		uc002gtw.3	Q6DKI2	OTTHUMG00000059251	ENST00000328114.6:c.103delG	17.37:g.18387252delG	ENSP00000329932:p.Gly35fs		B0AZM7	Frame_Shift_Del	DEL	ENST00000328114.6	37	CCDS32587.1																																																																																				0.567	LGALS9C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000131456.2	NM_001040078	
RAB12	201475	broad.mit.edu	37	18	8609872	8609872	+	Silent	SNP	C	C	A	rs534005643		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr18:8609872C>A	ENST00000329286.6	+	1	430	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	49					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.G49G(1)		breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TCATTATCGGCTCCCGCGGCG	0.711																																						.											1	Substitution - coding silent(1)	prostate(1)											12.0	17.0	15.0					18																	8609872		1918	4118	6036	SO:0001819	synonymous_variant	201475				CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.147C>A	18.37:g.8609872C>A			A6NEF5|Q4KMQ3	Silent	SNP	ENST00000329286.6	37	CCDS42410.1																																																																																				0.711	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	XM_113967	
UHRF1	29128	broad.mit.edu	37	19	4960756	4960756	+	RNA	SNP	A	A	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:4960756A>C	ENST00000592666.1	+	0	2899							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N787T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ATGCAGGTGAACCAGCCTCTG	0.597																																						.											1	Substitution - Missense(1)	large_intestine(1)											9.0	12.0	11.0					19																	4960756		1857	4009	5866			29128			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4960756A>C			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	Missense_Mutation	SNP	ENST00000592666.1	37		.	.	.	.	.	.	.	.	.	.	A	21.1	4.092564	0.76756	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	4.43	4.43	0.53597	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.78616	0.4311	.	.	.	0.46499	D	0.999072	D;D	0.89917	0.997;1.0	D;D	0.97110	0.98;1.0	D	0.84930	0.0859	7	0.87932	D	0	-37.6672	14.018	0.64536	1.0:0.0:0.0:0.0	.	788;775	Q2HIX7;Q96T88	.;UHRF1_HUMAN	T	774;389;774;774;787	.	ENSP00000262952:N774T	N	+	2	0	UHRF1	4911756	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	9.191000	0.94940	1.781000	0.52344	0.459000	0.35465	AAC		0.597	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000450444.1	NM_001048201	
PODNL1	79883	broad.mit.edu	37	19	14044085	14044087	+	In_Frame_Del	DEL	CCC	CCC	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CCC	CCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:14044085_14044087delCCC	ENST00000339560.5	-	8	1243_1245	c.970_972delGGG	c.(970-972)gggdel	p.G324del	PODNL1_ENST00000254320.3_In_Frame_Del_p.G242del|PODNL1_ENST00000538371.2_In_Frame_Del_p.G322del|PODNL1_ENST00000538517.2_In_Frame_Del_p.G233del	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	324	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GCCCTGAGCTCCCCAGCTGGTTG	0.714																																						.											0									,,	8,3936		1,6,1965					,,	-9.3	0.0			6	17,7683		8,1,3841	no	coding,coding,coding	PODNL1	NM_024825.3,NM_001146255.1,NM_001146254.1	,,	9,7,5806	A1A1,A1R,RR		0.2208,0.2028,0.2147	,,	,,		25,11619				SO:0001651	inframe_deletion	79883			AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.970_972delGGG	19.37:g.14044085_14044087delCCC	ENSP00000345175:p.Gly324del		B7Z564|Q9H5G9	In_Frame_Del	DEL	ENST00000339560.5	37	CCDS12300.1																																																																																				0.714	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	NM_024825	
UQCRFS1	7386	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	29698692	29698692	+	Missense_Mutation	SNP	C	C	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:29698692C>G	ENST00000304863.4	-	2	1010	c.588G>C	c.(586-588)agG>agC	p.R196S		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	196	Rieske. {ECO:0000255|PROSITE- ProRule:PRU00628}.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GCTGTGGGTCCCTCAACTGTG	0.458																																						.											0													103.0	111.0	108.0					19																	29698692		2203	4300	6503	SO:0001583	missense	7386			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.588G>C	19.37:g.29698692C>G	ENSP00000306397:p.Arg196Ser		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178721	0.38511	.	.	ENSG00000169021	ENST00000304863	T	0.50813	0.73	5.42	3.17	0.36434	Ubiquinol-cytochrome c reductase, iron-sulphur subunit (1);Rieske [2Fe-2S] iron-sulphur domain (4);	0.000000	0.85682	D	0.000000	T	0.68787	0.3039	M	0.87038	2.855	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72740	-0.4202	10	0.87932	D	0	.	9.3534	0.38151	0.0:0.7315:0.0:0.2685	.	196	P47985	UCRI_HUMAN	S	196	ENSP00000306397:R196S	ENSP00000306397:R196S	R	-	3	2	UQCRFS1	34390532	0.930000	0.31532	1.000000	0.80357	0.347000	0.29111	0.025000	0.13577	1.292000	0.44672	0.462000	0.41574	AGG		0.458	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003	
LMTK3	114783	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	49001439	49001439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:49001439C>A	ENST00000600059.1	-	11	3114	c.2887G>T	c.(2887-2889)Gag>Tag	p.E963*	LMTK3_ENST00000270238.3_Nonsense_Mutation_p.E992*			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	963	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGTGTCAGCTCCCCATTCTCC	0.652																																						.											0													90.0	95.0	93.0					19																	49001439		1891	4117	6008	SO:0001587	stop_gained	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.2887G>T	19.37:g.49001439C>A	ENSP00000472020:p.Glu963*		Q4G0U1	Nonsense_Mutation	SNP	ENST00000600059.1	37		.	.	.	.	.	.	.	.	.	.	C	29.8	5.037567	0.93630	.	.	ENSG00000142235	ENST00000270238	.	.	.	3.86	3.86	0.44501	.	0.218940	0.27631	U	0.018507	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	11.7016	0.51575	0.0:1.0:0.0:0.0	.	.	.	.	X	992	.	ENSP00000270238:E992X	E	-	1	0	LMTK3	53693251	1.000000	0.71417	0.999000	0.59377	0.024000	0.10985	3.012000	0.49575	1.900000	0.55004	0.449000	0.29647	GAG		0.652	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895	
IZUMO2	126123	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	50662801	50662801	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:50662801G>A	ENST00000293405.3	-	3	344	c.344C>T	c.(343-345)gCg>gTg	p.A115V		NM_152358.2	NP_689571.2	Q6UXV1	IZUM2_HUMAN	IZUMO family member 2	115						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						GATCACATTCGCCCTGAGGGT	0.493																																						.											0													73.0	72.0	72.0					19																	50662801		1873	4106	5979	SO:0001583	missense	126123			AY358196	CCDS12792.2	19q13.33	2014-02-17	2010-07-29	2010-07-29	ENSG00000161652	ENSG00000161652		"""-"""	28518	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 41"""	C19orf41		19658160, 22957301	Standard	XM_006723007		Approved	MGC33947, SCRL	uc002prp.1	Q6UXV1	OTTHUMG00000074063	ENST00000293405.3:c.344C>T	19.37:g.50662801G>A	ENSP00000293405:p.Ala115Val		Q5GRG3|Q5GRG4|Q6ZNM5|Q8NHR8	Missense_Mutation	SNP	ENST00000293405.3	37	CCDS12792.2	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585669	0.28268	.	.	ENSG00000161652	ENST00000293405;ENST00000377000	T	0.23348	1.91	4.37	-5.46	0.02608	.	1.836250	0.02694	N	0.111039	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	P	0.45672	0.864	B	0.32624	0.149	T	0.23797	-1.0178	10	0.62326	D	0.03	.	2.4691	0.04560	0.1237:0.3936:0.234:0.2488	.	115	Q6UXV1	IZUM2_HUMAN	V	115	ENSP00000293405:A115V	ENSP00000293405:A115V	A	-	2	0	IZUMO2	55354613	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.260000	0.08708	-1.189000	0.02702	-0.314000	0.08810	GCG		0.493	IZUMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157232.1	NM_152358	
Unknown	0	broad.mit.edu	37	2	98129746	98129746	+	IGR	DEL	G	G	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:98129746delG								AC159540.1 (38697 upstream) : ANKRD36B (34281 downstream)																							TTGCTCTTCTGTTATTCTTAA	0.333																																						.											0													62.0	71.0	68.0					2																	98129746		1811	4072	5883	SO:0001628	intergenic_variant	57730																															2.37:g.98129746delG				Frame_Shift_Del	DEL		37																																																																																				0	0.333								
AOX1	316	broad.mit.edu;mdanderson.org;bcgsc.ca	37	2	201462175	201462175	+	Missense_Mutation	SNP	G	G	A	rs200659056		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:201462175G>A	ENST00000374700.2	+	4	497	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	86	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGTGCTGCCGTCACCACAGT	0.458																																						.											0													142.0	120.0	128.0					2																	201462175		2203	4300	6503	SO:0001583	missense	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.256G>A	2.37:g.201462175G>A	ENSP00000363832:p.Val86Ile		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	14.36	2.512980	0.44660	.	.	ENSG00000138356	ENST00000374700;ENST00000454629	T;T	0.56941	1.71;0.43	5.29	3.5	0.40072	Beta-grasp fold, ferredoxin-type (1);Ferredoxin (2);	0.186311	0.46145	N	0.000308	T	0.39517	0.1081	L	0.33293	1	0.58432	D	0.999999	P	0.36990	0.577	B	0.34242	0.178	T	0.26608	-1.0098	10	0.49607	T	0.09	-43.0883	11.3803	0.49752	0.1469:0.0:0.8531:0.0	.	86	Q06278	ADO_HUMAN	I	86;61	ENSP00000363832:V86I;ENSP00000392485:V61I	ENSP00000363832:V86I	V	+	1	0	AOX1	201170420	1.000000	0.71417	0.724000	0.30704	0.801000	0.45260	3.200000	0.51051	0.801000	0.34066	0.655000	0.94253	GTC		0.458	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159	
FAM83C	128876	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	33874426	33874426	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:33874426C>T	ENST00000374408.3	-	4	2252	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	EIF6_ENST00000374450.3_5'Flank|EIF6_ENST00000374443.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA|EIF6_ENST00000374436.3_5'Flank|EIF6_ENST00000462894.1_5'Flank	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	719										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGGGTCAGCCGTTTCTCATC	0.557																																						.											0													104.0	96.0	99.0					20																	33874426		2203	4300	6503	SO:0001583	missense	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.2156G>A	20.37:g.33874426C>T	ENSP00000363529:p.Arg719Gln		Q14D67|Q5JWN6|Q8N276	Missense_Mutation	SNP	ENST00000374408.3	37	CCDS13251.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.387130	0.82902	.	.	ENSG00000125998	ENST00000374408	T	0.22539	1.95	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000006	T	0.40956	0.1138	M	0.67700	2.07	0.39146	D	0.962147	D	0.76494	0.999	P	0.59115	0.852	T	0.42732	-0.9434	10	0.87932	D	0	-2.9794	15.6748	0.77307	0.0:1.0:0.0:0.0	.	719	Q9BQN1	FA83C_HUMAN	Q	719	ENSP00000363529:R719Q	ENSP00000363529:R719Q	R	-	2	0	FAM83C	33337840	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.439000	0.52878	2.472000	0.83506	0.462000	0.41574	CGG		0.557	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3		
LPIN3	64900	broad.mit.edu	37	20	39984606	39984608	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTG	TTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:39984606_39984608delTTG	ENST00000373257.3	+	14	1826_1828	c.1735_1737delTTG	c.(1735-1737)ttgdel	p.L579del		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	579					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				GATCCCCTCCTTGccaccctcca	0.586																																						.											0																																										SO:0001651	inframe_deletion	64900			AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.1735_1737delTTG	20.37:g.39984606_39984608delTTG	ENSP00000362354:p.Leu579del		B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	In_Frame_Del	DEL	ENST00000373257.3	37	CCDS33469.1																																																																																				0.586	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896	
ABHD14A	25864	broad.mit.edu	37	3	52014930	52014930	+	Missense_Mutation	SNP	A	A	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:52014930A>C	ENST00000273596.3	+	5	780	c.712A>C	c.(712-714)Aac>Cac	p.N238H	ACY1_ENST00000458031.2_Intron|ABHD14B_ENST00000483233.1_Intron|ACY1_ENST00000404366.2_5'Flank|ABHD14A-ACY1_ENST00000463937.1_Intron|ACY1_ENST00000476351.1_5'Flank|ABHD14A_ENST00000491470.1_Silent_p.P120P|ACY1_ENST00000476854.1_5'Flank|ACY1_ENST00000494103.1_5'Flank	NM_015407.4	NP_056222.2	Q9BUJ0	ABHEA_HUMAN	abhydrolase domain containing 14A	238						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCACCTGCCCAACCACTCTGT	0.592																																						.											0													113.0	91.0	98.0					3																	52014930		2203	4300	6503	SO:0001583	missense	25864			AY358201	CCDS2843.1	3p21.1	2011-02-14			ENSG00000248487	ENSG00000248487		"""Abhydrolase domain containing"""	24538	protein-coding gene	gene with protein product							Standard	NM_015407		Approved	DKFZP564O243, DORZ1	uc003dco.3	Q9BUJ0	OTTHUMG00000157818	ENST00000273596.3:c.712A>C	3.37:g.52014930A>C	ENSP00000273596:p.Asn238His		Q6UXU8|Q9Y3T7	Missense_Mutation	SNP	ENST00000273596.3	37	CCDS2843.1	.	.	.	.	.	.	.	.	.	.	A	19.80	3.893898	0.72639	.	.	ENSG00000248487	ENST00000273596;ENST00000360889;ENST00000452452	T	0.23348	1.91	5.41	5.41	0.78517	.	0.057047	0.64402	D	0.000003	T	0.29620	0.0739	L	0.58354	1.805	0.80722	D	1	P	0.37708	0.606	B	0.38880	0.284	T	0.07635	-1.0762	10	0.59425	D	0.04	-24.6514	13.6867	0.62520	1.0:0.0:0.0:0.0	.	238	Q9BUJ0	ABHEA_HUMAN	H	238;196;172	ENSP00000273596:N238H	ENSP00000273596:N238H	N	+	1	0	ABHD14A	51989970	0.354000	0.24912	1.000000	0.80357	0.965000	0.64279	0.818000	0.27295	2.056000	0.61249	0.379000	0.24179	AAC		0.592	ABHD14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349689.1	NM_015407	
WWTR1	25937	broad.mit.edu;bcgsc.ca	37	3	149245708	149245708	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:149245708G>A	ENST00000465804.1	-	6	1076	c.820C>T	c.(820-822)Cca>Tca	p.P274S	WWTR1_ENST00000467467.1_Missense_Mutation_p.P274S|WWTR1_ENST00000360632.3_Missense_Mutation_p.P274S|RNU6-1098P_ENST00000516772.1_RNA	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	274					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCCTGAACTGGGGCAAGAGTC	0.498			T	CAMTA1	epitheliod hemangioendothelioma																																	.		Dom	yes		3	3q23-q24	607392	WW domain containing transcription regulator 1		M	0													128.0	130.0	130.0					3																	149245708		2203	4300	6503	SO:0001583	missense	25937			AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.820C>T	3.37:g.149245708G>A	ENSP00000419465:p.Pro274Ser		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	G	9.472	1.095889	0.20552	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.39997	1.05;1.05;1.05	5.09	-5.53	0.02552	.	1.354690	0.04316	N	0.349895	T	0.18045	0.0433	N	0.10874	0.06	0.18873	N	0.999985	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	10	0.14252	T	0.57	-0.4524	3.9669	0.09436	0.1546:0.2195:0.4838:0.1421	.	274	Q9GZV5	WWTR1_HUMAN	S	274;274;274;132	ENSP00000419465:P274S;ENSP00000353847:P274S;ENSP00000419234:P274S	ENSP00000353847:P274S	P	-	1	0	WWTR1	150728398	0.729000	0.28090	0.187000	0.23214	0.947000	0.59692	-0.308000	0.08156	-0.491000	0.06697	0.644000	0.83932	CCA		0.498	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472	
HTR3E	285242	broad.mit.edu;mdanderson.org	37	3	183824286	183824287	+	Missense_Mutation	DNP	GC	GC	TG			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:183824286_183824287GC>TG	ENST00000415389.2	+	9	1642_1643	c.1176_1177GC>TG	c.(1174-1179)atGCcg>atTGcg	p.392_393MP>IA	HTR3E_ENST00000425359.2_Missense_Mutation_p.377_378MP>IA|HTR3E_ENST00000440596.2_Missense_Mutation_p.418_419MP>IA|HTR3E_ENST00000436361.2_Missense_Mutation_p.392_393MP>IA|HTR3E_ENST00000335304.2_Missense_Mutation_p.407_408MP>IA|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	392					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CAGGGCAGATGCCGGGCCCTGC	0.609																																					Melanoma(7;227 727 6634 44770)	.											0																																										SO:0001583	missense	285242			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	Exception_encountered	3.37:g.183824286_183824287delinsTG	ENSP00000401444:p.M392_P393delinsIA		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	DNP	ENST00000415389.2	37	CCDS58868.1																																																																																				0.609	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
MUC4	4585	broad.mit.edu;mdanderson.org	37	3	195505819	195505819	+	Missense_Mutation	SNP	A	A	T	rs425588		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:195505819A>T	ENST00000463781.3	-	2	13091	c.12632T>A	c.(12631-12633)gTc>gAc	p.V4211D	MUC4_ENST00000475231.1_Missense_Mutation_p.V4211D|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V4211D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGTGTCGGTGACAGGAAGAGG	0.597																																						.											1	Substitution - Missense(1)	skin(1)											19.0	17.0	18.0					3																	195505819		688	1573	2261	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12632T>A	3.37:g.195505819A>T	ENSP00000417498:p.Val4211Asp		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	6.103	0.387345	0.11581	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37584	1.36;1.19	.	.	.	.	.	.	.	.	T	0.34803	0.0910	N	0.19112	0.55	0.21290	N	0.999739	D	0.65815	0.995	D	0.66497	0.944	T	0.16988	-1.0384	7	.	.	.	.	4.5176	0.11943	0.9993:0.0:7.0E-4:0.0	.	4083	E7ESK3	.	D	4211	ENSP00000417498:V4211D;ENSP00000420243:V4211D	.	V	-	2	0	MUC4	196990598	.	.	0.016000	0.15963	0.019000	0.09904	.	.	0.077000	0.16863	0.076000	0.15429	GTC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
UGT2A3	79799	broad.mit.edu;mdanderson.org	37	4	69795705	69795705	+	Silent	SNP	T	T	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:69795705T>G	ENST00000251566.4	-	6	1440	c.1410A>C	c.(1408-1410)ggA>ggC	p.G470G	UGT2A3_ENST00000420231.2_Silent_p.G181G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	470					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						GGTGCTTGGCTCCTTTGTGGC	0.488																																						.											0													91.0	91.0	91.0					4																	69795705		2203	4300	6503	SO:0001819	synonymous_variant	79799				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.1410A>C	4.37:g.69795705T>G			Q9H6S4	Silent	SNP	ENST00000251566.4	37	CCDS3525.1																																																																																				0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251564.1	NM_024743	
OCLN	100506658	broad.mit.edu	37	5	68840857	68840857	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:68840857delA	ENST00000355237.2	+	6	1600	c.1164delA	c.(1162-1164)ggafs	p.G388fs	OCLN_ENST00000538151.1_Frame_Shift_Del_p.G137fs|OCLN_ENST00000396442.2_Frame_Shift_Del_p.G388fs|OCLN_ENST00000542132.1_Frame_Shift_Del_p.G66fs|OCLN_ENST00000380766.2_Frame_Shift_Del_p.G334fs|OCLN_ENST00000514370.1_3'UTR	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	388					apoptotic process (GO:0006915)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|protein complex assembly (GO:0006461)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethionine metabolic process (GO:0046500)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)|structural molecule activity (GO:0005198)|thiopurine S-methyltransferase activity (GO:0008119)			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GAAGAGCAGGAAGGTCAAAGA	0.512																																						.											0													56.0	51.0	53.0					5																	68840857		1747	3481	5228	SO:0001589	frameshift_variant	100506658			U49184	CCDS4006.1, CCDS54864.1	5q13.1	2014-06-13			ENSG00000197822	ENSG00000197822			8104	protein-coding gene	gene with protein product	"""tight junction protein occludin TM4 minus"", ""phosphatase 1, regulatory subunit 115"""	602876				8601611	Standard	NM_002538		Approved	PPP1R115	uc003jwu.3	Q16625	OTTHUMG00000099356	ENST00000355237.2:c.1164delA	5.37:g.68840857delA	ENSP00000347379:p.Gly388fs		B5BU70|D2DU64|D2DU65|D2IGC0|D2IGC1|E2CYV9|Q5U1V4|Q8N6K1	Frame_Shift_Del	DEL	ENST00000355237.2	37	CCDS4006.1																																																																																				0.512	OCLN-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216794.1	NM_002538	
COL19A1	1310	broad.mit.edu;mdanderson.org	37	6	70873233	70873233	+	Splice_Site	SNP	A	A	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:70873233A>T	ENST00000322773.4	+	36	2448		c.e36-1		COL19A1_ENST00000393344.1_Splice_Site	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1						cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TGTGTTTTACAGGGCTTAATG	0.403																																						.											0													86.0	75.0	79.0					6																	70873233		2203	4300	6503	SO:0001630	splice_region_variant	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2347-1A>T	6.37:g.70873233A>T			Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Splice_Site	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247720	0.59103	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	.	.	.	6.06	6.06	0.98353	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL19A1	70929954	1.000000	0.71417	1.000000	0.80357	0.527000	0.34593	6.509000	0.73725	2.315000	0.78130	0.533000	0.62120	.		0.403	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		Intron
C7orf25	79020	broad.mit.edu	37	7	42949523	42949524	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:42949523_42949524delCT	ENST00000350427.4	-	2	1251_1252	c.976_977delAG	c.(976-978)aggfs	p.R326fs	C7orf25_ENST00000447342.1_Frame_Shift_Del_p.R326fs|C7orf25_ENST00000438029.1_Frame_Shift_Del_p.R326fs|C7orf25_ENST00000431882.2_Frame_Shift_Del_p.R384fs|PSMA2_ENST00000442788.1_3'UTR			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	326								p.R326fs*6(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CACAGTGGCCCTCTCTCTCTCC	0.455																																						.											1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	79020			BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.976_977delAG	7.37:g.42949531_42949532delCT	ENSP00000343364:p.Arg326fs		A4D1V2|J3KR36|Q9H779	Frame_Shift_Del	DEL	ENST00000350427.4	37	CCDS5466.1																																																																																				0.455	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2	NM_024054	
FGL2	10875	broad.mit.edu;mdanderson.org	37	7	76828642	76828642	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:76828642G>A	ENST00000248598.5	-	1	501	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	157						extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TTCTCCAGGCGACCATGAAGT	0.383																																						.											0													119.0	111.0	114.0					7																	76828642		2203	4300	6503	SO:0001583	missense	10875			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.469C>T	7.37:g.76828642G>A	ENSP00000248598:p.Arg157Cys			Missense_Mutation	SNP	ENST00000248598.5	37	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829255	0.71258	.	.	ENSG00000127951	ENST00000248598	T	0.59772	0.24	6.17	6.17	0.99709	.	0.045951	0.85682	D	0.000000	T	0.74809	0.3765	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.63192	0.912	T	0.74244	-0.3728	10	0.66056	D	0.02	.	20.4745	0.99168	0.0:0.0:1.0:0.0	.	157	Q14314	FGL2_HUMAN	C	157	ENSP00000248598:R157C	ENSP00000248598:R157C	R	-	1	0	FGL2	76666578	0.998000	0.40836	0.955000	0.39395	0.552000	0.35366	3.946000	0.56644	2.941000	0.99782	0.655000	0.94253	CGC		0.383	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682	
MUSK	4593	broad.mit.edu	37	9	113459692	113459692	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr9:113459692G>A	ENST00000374448.4	+	5	708	c.574G>A	c.(574-576)Gca>Aca	p.A192T	MUSK_ENST00000416899.2_Missense_Mutation_p.A192T|MUSK_ENST00000374440.3_Missense_Mutation_p.A74T|MUSK_ENST00000189978.5_Missense_Mutation_p.A192T|MUSK_ENST00000374439.1_Missense_Mutation_p.A74T	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	192	Ig-like 2.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCGATGTGTGGCAAAAAACAG	0.483																																						.											0													138.0	139.0	138.0					9																	113459692		1948	4152	6100	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.574G>A	9.37:g.113459692G>A	ENSP00000363571:p.Ala192Thr		Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	32	5.177234	0.94846	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374440;ENST00000416899;ENST00000374439	T;T;T	0.76448	-1.02;-1.02;-1.02	5.88	5.88	0.94601	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90693	0.7080	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.91853	0.5493	10	0.87932	D	0	.	18.8079	0.92045	0.0:0.0:1.0:0.0	.	192;192	O15146;F5H6T2	MUSK_HUMAN;.	T	192;192;192;192;192;74;192;74	ENSP00000363571:A192T;ENSP00000363563:A74T;ENSP00000363562:A74T	ENSP00000189978:A192T	A	+	1	0	MUSK	112499513	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.991000	0.70602	2.774000	0.95407	0.655000	0.94253	GCA		0.483	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
RPS6KA3	6197	broad.mit.edu	37	X	20187576	20187576	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:20187576C>T	ENST00000379565.3	-	16	1594	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.E435K|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.E433K|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.E434K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	463	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E462fs(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	ATTTCAATTTCTTCTGTTGGG	0.299																																						.											1	Complex(1)	breast(1)											164.0	159.0	161.0					X																	20187576		2203	4300	6503	SO:0001583	missense	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1387G>A	X.37:g.20187576C>T	ENSP00000368884:p.Glu463Lys		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	C	34	5.345157	0.95807	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87346	0.6154	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.994;1.0;0.998	D	0.88934	0.3375	10	0.87932	D	0	.	18.526	0.90973	0.0:1.0:0.0:0.0	.	434;433;435;463	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	K	463;435;433;434	ENSP00000368884:E463K;ENSP00000440220:E435K;ENSP00000368865:E433K;ENSP00000444837:E434K	ENSP00000368865:E433K	E	-	1	0	RPS6KA3	20097497	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.715000	0.84713	2.404000	0.81709	0.600000	0.82982	GAA		0.299	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	
HUWE1	10075	broad.mit.edu;mdanderson.org;bcgsc.ca	37	X	53586462	53586462	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:53586462G>T	ENST00000342160.3	-	56	8225	c.7768C>A	c.(7768-7770)Ctt>Att	p.L2590I	MIRLET7F2_ENST00000385277.1_RNA|HUWE1_ENST00000262854.6_Missense_Mutation_p.L2590I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2590					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTCAGCTGAAGGATGTCAGCA	0.572																																						.											0													34.0	29.0	31.0					X																	53586462		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.7768C>A	X.37:g.53586462G>T	ENSP00000340648:p.Leu2590Ile		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.28|19.28	3.797601|3.797601	0.70567|0.70567	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052	T;T|.	0.53206|.	0.63;0.63|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.54367|0.54367	0.1854|0.1854	L|L	0.34521|0.34521	1.04|1.04	0.46478|0.46478	D|D	0.999064|0.999064	P;D|.	0.56035|.	0.956;0.974|.	D;D|.	0.70487|.	0.931;0.969|.	T|T	0.51108|0.51108	-0.8747|-0.8747	10|5	0.52906|.	T|.	0.07|.	.|.	11.6932|11.6932	0.51527|0.51527	0.0833:0.0:0.9167:0.0|0.0833:0.0:0.9167:0.0	.|.	2590;2590|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	I|H	2590|1623	ENSP00000340648:L2590I;ENSP00000262854:L2590I|.	ENSP00000262854:L2590I|.	L|P	-|-	1|2	0|0	HUWE1|HUWE1	53603187|53603187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.776000|3.776000	0.55356|0.55356	2.580000|2.580000	0.87095|0.87095	0.600000|0.600000	0.82982|0.82982	CTT|CCT		0.572	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
USP26	83844	broad.mit.edu	37	X	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-	rs61758857		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:132161205delA	ENST00000511190.1	-	6	1513	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	348	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.F348fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGGTATCTTTAAAAAAAAGTA	0.388																																					NSCLC(104;342 1621 36940 47097 52632)	.											1	Deletion - Frameshift(1)	large_intestine(1)	GRCh37	CM077651	USP26	M	rs61758857						35.0	37.0	36.0					X																	132161205		2198	4295	6493	SO:0001589	frameshift_variant	83844			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1044delT	X.37:g.132161205delA	ENSP00000423390:p.Phe348fs		B9WRT6|Q5H9H4	Frame_Shift_Del	DEL	ENST00000511190.1	37	CCDS14635.1																																																																																				0.388	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907	
PPT1	5538	broad.mit.edu	37	1	40562824	40562825	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:40562824_40562825insG	ENST00000433473.3	-	1	550_551	c.86_87insC	c.(85-87)ccgfs	p.P29fs	PPT1_ENST00000449045.2_Frame_Shift_Ins_p.P29fs	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	29					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCGGCGCCGGCGGGTCCAGATG	0.609																																						.											0																																										SO:0001589	frameshift_variant	5538			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.87dupC	1.37:g.40562827_40562827dupG	ENSP00000394863:p.Pro29fs		B4DY24|Q6FGQ4	Frame_Shift_Ins	INS	ENST00000433473.3	37	CCDS447.1																																																																																				0.609	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310	
MUC1	4582	broad.mit.edu	37	1	155160853	155160854	+	In_Frame_Ins	INS	-	-	GGG			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:155160853_155160854insGGG	ENST00000368395.1	-	3	744_745	c.673_674insCCC	c.(673-675)ctt>cCCCtt	p.224_225insP	MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368396.4_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000338684.5_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1004	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.				cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ATGGCTGGCAAGGGTGGTAGGA	0.559			T	IGH@	B-NHL																																	.		Dom	yes		1	1q21	4582	"""mucin 1, transmembrane"""		L	0																																										SO:0001652	inframe_insertion	4582			J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.671_673dupCCC	1.37:g.155160854_155160856dupGGG	ENSP00000357380:p.Thr224_Leu225insPro		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	In_Frame_Ins	INS	ENST00000368395.1	37	CCDS55640.1																																																																																				0.559	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	NM_002456	
TRMT1L	81627	broad.mit.edu	37	1	185119607	185119608	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:185119607_185119608insA	ENST00000367506.5	-	3	631_632	c.363_364insT	c.(361-366)tgtccafs	p.P122fs	TRMT1L_ENST00000367504.3_5'UTR	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	122					adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGCACAATGGACAAGCCTGTC	0.376																																						.											0																																										SO:0001589	frameshift_variant	81627			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.364dupT	1.37:g.185119608_185119608dupA	ENSP00000356476:p.Pro122fs		Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Frame_Shift_Ins	INS	ENST00000367506.5	37	CCDS1366.1																																																																																				0.376	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1	NM_030934	
STAM	8027	broad.mit.edu	37	10	17756602	17756603	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr10:17756602_17756603insC	ENST00000377524.3	+	14	1661_1662	c.1446_1447insC	c.(1447-1449)cctfs	p.P483fs	STAM_ENST00000540523.1_Frame_Shift_Ins_p.P372fs	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	483					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TATATAGTCCTCCTCCTGCCGC	0.47																																						.											0																																										SO:0001589	frameshift_variant	8027			U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1448dupC	10.37:g.17756604_17756604dupC	ENSP00000366746:p.Pro483fs		B0YJ99|D3DRU5|Q8N6D9	Frame_Shift_Ins	INS	ENST00000377524.3	37	CCDS7122.1																																																																																				0.470	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473	
FRMD8	83786	broad.mit.edu	37	11	65161559	65161560	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:65161559_65161560insG	ENST00000317568.5	+	5	566_567	c.403_404insG	c.(403-405)cggfs	p.R135fs	FRMD8_ENST00000355991.5_Frame_Shift_Ins_p.R79fs|FRMD8_ENST00000416776.2_Frame_Shift_Ins_p.R101fs	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	135	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CCCAAAGCGGCGGGAGCTCCAG	0.658																																						.											0																																										SO:0001589	frameshift_variant	83786			AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.406dupG	11.37:g.65161562_65161562dupG	ENSP00000319726:p.Arg135fs		B4E2P1|Q86V56|Q8NCB5	Frame_Shift_Ins	INS	ENST00000317568.5	37	CCDS8102.1																																																																																				0.658	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904	
OSBPL8	114882	broad.mit.edu	37	12	76763581	76763582	+	Frame_Shift_Ins	INS	-	-	C	rs571718491		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:76763581_76763582insC	ENST00000261183.3	-	20	2554_2555	c.2075_2076insG	c.(2074-2076)cgafs	p.R692fs	OSBPL8_ENST00000393249.2_Frame_Shift_Ins_p.R650fs|OSBPL8_ENST00000393250.4_Frame_Shift_Ins_p.R650fs	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	692					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CATTTATGGCTCGAGTTACCCG	0.366																																						.											0																																										SO:0001589	frameshift_variant	114882			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2076dupG	12.37:g.76763582_76763582dupC	ENSP00000261183:p.Arg692fs		A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Frame_Shift_Ins	INS	ENST00000261183.3	37	CCDS31862.1																																																																																				0.366	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	
CHRFAM7A	89832	broad.mit.edu	37	15	30659650	30659651	+	Frame_Shift_Ins	INS	-	-	G	rs371263130|rs368423557		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr15:30659650_30659651insG	ENST00000299847.2	-	9	1143_1144	c.690_691insC	c.(688-693)cacgacfs	p.D231fs	CHRFAM7A_ENST00000401522.3_Frame_Shift_Ins_p.D140fs|CHRFAM7A_ENST00000397827.3_Frame_Shift_Ins_p.D140fs	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	231						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CCGTCGGGGTCGTGGTGGTGGT	0.599																																						.											0																																										SO:0001589	frameshift_variant	89832			AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.691dupC	15.37:g.30659651_30659651dupG	ENSP00000299847:p.Asp231fs		A8KAB9	Frame_Shift_Ins	INS	ENST00000299847.2	37	CCDS32184.1																																																																																				0.599	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911	
RAI1	10743	broad.mit.edu	37	17	17700804	17700805	+	Frame_Shift_Ins	INS	-	-	C	rs148698066		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:17700804_17700805insC	ENST00000353383.1	+	3	5011_5012	c.4542_4543insC	c.(4543-4545)cccfs	p.P1515fs	RAI1_ENST00000261641.6_Frame_Shift_Ins_p.P1515fs	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1515					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.P1515S(1)|p.P1515F(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CGGAGGGCAGGCCCTGCCAGCC	0.649																																						.											2	Substitution - Missense(2)	skin(2)																																								SO:0001589	frameshift_variant	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4545dupC	17.37:g.17700807_17700807dupC	ENSP00000323074:p.Pro1515fs		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Frame_Shift_Ins	INS	ENST00000353383.1	37	CCDS11188.1																																																																																				0.649	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
NPTX1	4884	broad.mit.edu	37	17	78449424	78449425	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:78449424_78449425insG	ENST00000306773.4	-	2	695_696	c.538_539insC	c.(538-540)cggfs	p.R180fs	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	180					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GGTGTTCACCCGGGACAGCACC	0.639																																						.											0																																										SO:0001589	frameshift_variant	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.539dupC	17.37:g.78449427_78449427dupG	ENSP00000307549:p.Arg180fs		B3KXH3|Q5FWE6	Frame_Shift_Ins	INS	ENST00000306773.4	37	CCDS32762.1																																																																																				0.639	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1		
C3	718	broad.mit.edu	37	19	6679165	6679166	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:6679165_6679166insC	ENST00000245907.6	-	38	4692_4693	c.4600_4601insG	c.(4600-4602)gacfs	p.D1534fs	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1534	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	ACAGGCCTTGTCCAGCCGTTCT	0.55																																						.											0																																										SO:0001589	frameshift_variant	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4601dupG	19.37:g.6679167_6679167dupC	ENSP00000245907:p.Asp1534fs		A7E236	Frame_Shift_Ins	INS	ENST00000245907.6	37	CCDS32883.1																																																																																				0.550	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
SLC27A5	10998	broad.mit.edu	37	19	59022739	59022740	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:59022739_59022740insC	ENST00000263093.2	-	1	692_693	c.583_584insG	c.(583-585)gccfs	p.A195fs	SLC27A5_ENST00000601355.1_Intron	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	195					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GCCCAGCTTGGCCAGCCCCAGC	0.688																																						.											0																																										SO:0001589	frameshift_variant	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.584dupG	19.37:g.59022741_59022741dupC	ENSP00000263093:p.Ala195fs		B3KVP6|B4DPQ1	Frame_Shift_Ins	INS	ENST00000263093.2	37	CCDS12983.1																																																																																				0.688	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254	
ABCG8	64241	broad.mit.edu	37	2	44102406	44102407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:44102406_44102407insG	ENST00000272286.2	+	11	1700_1701	c.1610_1611insG	c.(1609-1614)ctggtgfs	p.V538fs		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	538	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTGGTGTGGCTGGTGGTCTTCT	0.609																																						.											0																																										SO:0001589	frameshift_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1612dupG	2.37:g.44102408_44102408dupG	ENSP00000272286:p.Val538fs		Q53QN8	Frame_Shift_Ins	INS	ENST00000272286.2	37	CCDS1815.1																																																																																				0.609	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437	
IL1RL1	9173	broad.mit.edu	37	2	102959759	102959760	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:102959759_102959760insG	ENST00000233954.1	+	8	1125_1126	c.854_855insG	c.(853-858)atggttfs	p.V286fs	IL1RL1_ENST00000311734.2_Frame_Shift_Ins_p.V286fs|IL1RL1_ENST00000409584.1_Frame_Shift_Ins_p.V272fs|IL1RL1_ENST00000404917.2_Frame_Shift_Ins_p.V169fs	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	286	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGTCTAGACATGGTTTTAAGAA	0.455																																						.											0																																										SO:0001589	frameshift_variant	9173			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.856dupG	2.37:g.102959761_102959761dupG	ENSP00000233954:p.Val286fs		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Frame_Shift_Ins	INS	ENST00000233954.1	37	CCDS2057.1																																																																																				0.455	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232	
RGPD4	285190	broad.mit.edu	37	2	108487353	108487354	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:108487353_108487354insA	ENST00000408999.3	+	20	2970_2971	c.2893_2894insA	c.(2893-2895)caafs	p.Q965fs	RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.Q965fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	965					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATTTTTGGCCAAACAAGTAGC	0.401																																						.											0																																										SO:0001589	frameshift_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2896dupA	2.37:g.108487356_108487356dupA	ENSP00000386810:p.Gln965fs		B9A029	Frame_Shift_Ins	INS	ENST00000408999.3	37	CCDS46381.1																																																																																				0.401	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581	
KCNQ2	3785	broad.mit.edu	37	20	62076054	62076055	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:62076054_62076055insC	ENST00000359125.2	-	4	821_822	c.647_648insG	c.(646-648)ggcfs	p.G216fs	KCNQ2_ENST00000370224.1_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000354587.3_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000357249.2_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000359689.1_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000344425.5_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000344462.4_Frame_Shift_Ins_p.G216fs|KCNQ2_ENST00000360480.3_Frame_Shift_Ins_p.G216fs	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	216					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCTTCCAGGTGCCTCCCCGCCG	0.688																																						.											0																																										SO:0001589	frameshift_variant	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.648dupG	20.37:g.62076056_62076056dupC	ENSP00000352035:p.Gly216fs		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Frame_Shift_Ins	INS	ENST00000359125.2	37	CCDS13520.1																																																																																				0.688	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109	
RIMBP3	85376	broad.mit.edu	37	22	20458628	20458629	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:20458628_20458629insG	ENST00000426804.1	-	1	3157_3158	c.2673_2674insC	c.(2671-2676)tccaacfs	p.N892fs	RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	892	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCCACGAAGTTGGAGGGCACCA	0.604																																						.											0																																										SO:0001589	frameshift_variant	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.2674dupC	22.37:g.20458630_20458630dupG	ENSP00000391564:p.Asn892fs		Q8IYP7|Q9BY94|Q9UFQ5	Frame_Shift_Ins	INS	ENST00000426804.1	37	CCDS46665.1																																																																																				0.604	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2	NM_015672	
KLF15	28999	broad.mit.edu	37	3	126070866	126070867	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:126070866_126070867insG	ENST00000296233.3	-	2	1129_1130	c.899_900insC	c.(898-900)cctfs	p.P300fs	KLF15_ENST00000509675.1_5'Flank	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	300					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		GGAGACCGGCAGGGCCAGGCCC	0.584																																						.											0																																										SO:0001589	frameshift_variant	28999			AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.900dupC	3.37:g.126070869_126070869dupG	ENSP00000296233:p.Pro300fs			Frame_Shift_Ins	INS	ENST00000296233.3	37	CCDS3036.1																																																																																				0.584	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079	
NCAPG	64151	broad.mit.edu	37	4	17844972	17844973	+	Frame_Shift_Ins	INS	-	-	A	rs75077775		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:17844972_17844973insA	ENST00000251496.2	+	21	3148_3149	c.2972_2973insA	c.(2971-2976)ccaagafs	p.R992fs	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	992					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATGAGACTACCAAGACGAGCCA	0.366																																						.											0																																										SO:0001589	frameshift_variant	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2974dupA	4.37:g.17844974_17844974dupA	ENSP00000251496:p.Arg992fs		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Frame_Shift_Ins	INS	ENST00000251496.2	37	CCDS3424.1																																																																																				0.366	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
CAMK4	814	broad.mit.edu	37	5	110560256	110560257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:110560256_110560257insG	ENST00000282356.4	+	1	473_474	c.75_76insG	c.(76-78)gcgfs	p.A26fs	CAMK4_ENST00000512453.1_Frame_Shift_Ins_p.A26fs	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	26					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CCCCGGGGACCGCGAGCCTCGT	0.673																																						.											0																																										SO:0001589	frameshift_variant	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.76dupG	5.37:g.110560257_110560257dupG	ENSP00000282356:p.Ala26fs		D3DSZ7	Frame_Shift_Ins	INS	ENST00000282356.4	37	CCDS4103.1																																																																																				0.673	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
SEMA6A	57556	broad.mit.edu	37	5	115782974	115782975	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:115782974_115782975insG	ENST00000343348.6	-	19	3214_3215	c.2427_2428insC	c.(2425-2430)cccagcfs	p.S810fs	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Frame_Shift_Ins_p.S237fs|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Ins_p.S827fs|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Ins_p.S287fs|SEMA6A_ENST00000510263.1_Frame_Shift_Ins_p.S810fs|SEMA6A_ENST00000503865.1_Frame_Shift_Ins_p.S189fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	810	Pro-rich.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GGGATGTGGCTGGGGGAGGCCC	0.639																																						.											0																																										SO:0001589	frameshift_variant	57556			AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2428dupC	5.37:g.115782979_115782979dupG	ENSP00000345512:p.Ser810fs		Q9P2H9	Frame_Shift_Ins	INS	ENST00000343348.6	37	CCDS47256.1																																																																																				0.639	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796	
SMO	6608	broad.mit.edu	37	7	128846110	128846111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:128846110_128846111insC	ENST00000249373.3	+	5	1320_1321	c.1040_1041insC	c.(1039-1044)ggcaccfs	p.T348fs		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	348					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	AAAGCCCTGGGCACCACCTACC	0.569			Mis		skin basal cell																																	.		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0																																										SO:0001589	frameshift_variant	6608			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.1041dupC	7.37:g.128846111_128846111dupC	ENSP00000249373:p.Thr348fs		A4D1K5	Frame_Shift_Ins	INS	ENST00000249373.3	37	CCDS5811.1																																																																																				0.569	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350986.1	NM_005631	
SHH	6469	broad.mit.edu	37	7	155604741	155604742	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:155604741_155604742insC	ENST00000297261.2	-	1	225_226	c.75_76insG	c.(73-78)ggaccgfs	p.P26fs		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	26			P -> L (in HPE3). {ECO:0000269|PubMed:19603532}.		androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|artery development (GO:0060840)|axon guidance (GO:0007411)|Bergmann glial cell differentiation (GO:0060020)|blood coagulation (GO:0007596)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bud outgrowth involved in lung branching (GO:0060447)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway (GO:0060070)|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)|cell development (GO:0048468)|cell fate specification (GO:0001708)|cell-cell signaling (GO:0007267)|cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|cerebellar granule cell precursor proliferation (GO:0021930)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|dorsal/ventral neural tube patterning (GO:0021904)|dorsal/ventral pattern formation (GO:0009953)|ectoderm development (GO:0007398)|embryo development (GO:0009790)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal system development (GO:0048706)|endocytosis (GO:0006897)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|establishment of cell polarity (GO:0030010)|forebrain development (GO:0030900)|formation of anatomical boundary (GO:0048859)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|hindgut morphogenesis (GO:0007442)|inner ear development (GO:0048839)|intein-mediated protein splicing (GO:0016539)|intermediate filament organization (GO:0045109)|left lung development (GO:0060459)|limb bud formation (GO:0060174)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|lymphoid progenitor cell differentiation (GO:0002320)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal smoothened signaling pathway involved in prostate gland development (GO:0060783)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephros development (GO:0001656)|midbrain development (GO:0030901)|multicellular structure septum development (GO:0080125)|myoblast differentiation (GO:0045445)|myotube differentiation (GO:0014902)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell migration (GO:0030336)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of kidney smooth muscle cell differentiation (GO:2000357)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ureter smooth muscle cell differentiation (GO:2000062)|negative thymic T cell selection (GO:0045060)|neural crest cell migration (GO:0001755)|neuroblast proliferation (GO:0007405)|neuron fate commitment (GO:0048663)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|organ formation (GO:0048645)|osteoblast development (GO:0002076)|palate development (GO:0060021)|pancreas development (GO:0031016)|pattern specification process (GO:0007389)|patterning of blood vessels (GO:0001569)|polarity specification of anterior/posterior axis (GO:0009949)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of immature T cell proliferation in thymus (GO:0033092)|positive regulation of kidney smooth muscle cell differentiation (GO:2000358)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sclerotome development (GO:0061189)|positive regulation of skeletal muscle cell proliferation (GO:0014858)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureter smooth muscle cell differentiation (GO:2000063)|positive regulation of Wnt signaling pathway (GO:0030177)|positive thymic T cell selection (GO:0045059)|primary prostatic bud elongation (GO:0060516)|prostate epithelial cord elongation (GO:0060523)|prostate gland development (GO:0030850)|protein localization to nucleus (GO:0034504)|regulation of cell proliferation (GO:0042127)|regulation of mesenchymal cell proliferation involved in prostate gland development (GO:0060782)|regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900175)|regulation of odontogenesis (GO:0042481)|regulation of prostatic bud formation (GO:0060685)|regulation of protein localization to nucleus (GO:1900180)|regulation of proteolysis (GO:0030162)|renal system development (GO:0072001)|right lung development (GO:0060458)|salivary gland cavitation (GO:0060662)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|somite development (GO:0061053)|spinal cord dorsal/ventral patterning (GO:0021513)|spinal cord motor neuron differentiation (GO:0021522)|stem cell development (GO:0048864)|striated muscle tissue development (GO:0014706)|T cell differentiation in thymus (GO:0033077)|telencephalon regionalization (GO:0021978)|thalamus development (GO:0021794)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|trachea morphogenesis (GO:0060439)|vasculogenesis (GO:0001570)|ventral midline development (GO:0007418)	cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|laminin-1 binding (GO:0043237)|morphogen activity (GO:0016015)|patched binding (GO:0005113)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCCTGCCCGGTCCGCACGCCA	0.609																																						.											0																																										SO:0001589	frameshift_variant	6469				CCDS5942.1	7q36	2010-06-25	2010-06-25		ENSG00000164690	ENSG00000164690			10848	protein-coding gene	gene with protein product		600725	"""sonic hedgehog (Drosophila) homolog"", ""sonic hedgehog homolog (Drosophila)"""	HPE3, HLP3		7590746	Standard	NM_000193		Approved	HHG1, SMMCI, TPT, TPTPS, MCOPCB5	uc003wmk.1	Q15465	OTTHUMG00000151349	ENST00000297261.2:c.75_76insG	7.37:g.155604741_155604742insC	ENSP00000297261:p.Pro26fs		A4D247|Q75MC9	Frame_Shift_Ins	INS	ENST00000297261.2	37	CCDS5942.1																																																																																				0.609	SHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322327.1	NM_000193	
TG	7038	broad.mit.edu	37	8	133913781	133913782	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:133913781_133913782insC	ENST00000220616.4	+	16	3657_3658	c.3617_3618insC	c.(3616-3621)ggccagfs	p.Q1207fs	TG_ENST00000377869.1_Frame_Shift_Ins_p.Q1207fs	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1207	Thyroglobulin type-1 10. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GTGACCGGGGGCCAGCCCGCCT	0.619																																						.											0																																										SO:0001589	frameshift_variant	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3619dupC	8.37:g.133913783_133913783dupC	ENSP00000220616:p.Gln1207fs		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Frame_Shift_Ins	INS	ENST00000220616.4	37	CCDS34944.1																																																																																				0.619	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
FAM47B	170062	broad.mit.edu	37	X	34961067	34961068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:34961067_34961068insC	ENST00000329357.5	+	1	155_156	c.119_120insC	c.(118-123)ttcccgfs	p.FP40fs		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	40										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CGCCTGAGGTTCCCGCCTGTGG	0.594																																						.											0																																										SO:0001589	frameshift_variant	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.122dupC	X.37:g.34961070_34961070dupC	ENSP00000328307:p.Phe40fs		Q5JQN5|Q6PIG3	Frame_Shift_Ins	INS	ENST00000329357.5	37	CCDS14236.1																																																																																				0.594	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
RAB40A	142684	broad.mit.edu	37	X	102755468	102755469	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chrX:102755468_102755469insC	ENST00000372633.1	-	1	2334_2335	c.216_217insG	c.(214-219)gggcagfs	p.Q73fs	RAB40A_ENST00000304236.1_Frame_Shift_Ins_p.Q73fs|LL0XNC01-250H12.3_ENST00000445990.1_RNA			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	73					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AATCTTCCCTGCCCCGACGTAT	0.569																																						.											0																																										SO:0001589	frameshift_variant	142684			AF132748	CCDS35357.1	Xq22.1	2009-08-25			ENSG00000172476	ENSG00000172476		"""RAB, member RAS oncogene"""	18283	protein-coding gene	gene with protein product						11697911	Standard	NM_080879		Approved	RAR2A, Rar-2	uc004ekk.3	Q8WXH6	OTTHUMG00000022100	ENST00000372633.1:c.217dupG	X.37:g.102755472_102755472dupC	ENSP00000361716:p.Gln73fs		O00407|Q17RQ5|Q6DK06|Q8TF06	Frame_Shift_Ins	INS	ENST00000372633.1	37	CCDS35357.1																																																																																				0.569	RAB40A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057714.1		
CACNA1H	8912	ucsc.edu	37	16	1250559	1250559	+	Silent	SNP	T	T	C	rs8044363	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:1250559T>C	ENST00000348261.5	+	7	1355	c.1107T>C	c.(1105-1107)atT>atC	p.I369I	CACNA1H_ENST00000565831.1_Silent_p.I369I|CACNA1H_ENST00000358590.4_Silent_p.I369I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	369					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	ACGCCTGGATTGCCATCTTCC	0.657													t|||	1666	0.332668	0.4902	0.3026	5008	,	,		14574	0.1022		0.4095	False		,,,				2504	0.2996					.											0			GRCh37	CM071580	CACNA1H	M	rs8044363	C	,	1908,2232		449,1010,611	47.0	51.0	49.0		1107,1107	-6.3	0.9	16	dbSNP_116	49	3581,4807		808,1965,1421	no	coding-synonymous,coding-synonymous	CACNA1H	NM_001005407.1,NM_021098.2	,	1257,2975,2032	CC,CT,TT		42.6919,46.087,43.8139	,	369/2348,369/2354	1250559	5489,7039	2070	4194	6264	SO:0001819	synonymous_variant	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.1107T>C	16.37:g.1250559T>C			B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																				0.657	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	
CEP104	9731	ucsc.edu	37	1	3753225	3753225	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:3753225A>G	ENST00000378230.3	-	10	1475	c.1151T>C	c.(1150-1152)cTt>cCt	p.L384P	CEP104_ENST00000460038.1_Intron	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	384						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						AATAGCTGGAAGAGGCCGCTC	0.562																																						.											0													72.0	67.0	69.0					1																	3753225		2203	4300	6503	SO:0001583	missense	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1151T>C	1.37:g.3753225A>G	ENSP00000367476:p.Leu384Pro		Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.648087	0.87958	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	T;T	0.59502	1.22;0.26	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000001	T	0.76793	0.4037	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.78198	-0.2297	10	0.45353	T	0.12	.	15.1098	0.72346	1.0:0.0:0.0:0.0	.	384;384	O60308-3;O60308	.;CE104_HUMAN	P	384;78	ENSP00000367476:L384P;ENSP00000411927:L78P	ENSP00000367476:L384P	L	-	2	0	CEP104	3743085	1.000000	0.71417	0.078000	0.20375	0.323000	0.28346	8.353000	0.90077	2.154000	0.67381	0.528000	0.53228	CTT		0.562	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704	
OR2D3	120775	ucsc.edu	37	11	6942589	6942589	+	Silent	SNP	C	C	T	rs59264610|rs202205015	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:6942589C>T	ENST00000317834.3	+	1	385	c.357C>T	c.(355-357)gtC>gtT	p.V119V		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGATAATTGTCTTTCTTCTGG	0.448																																						.											0													137.0	143.0	141.0					11																	6942589		2191	4289	6480	SO:0001819	synonymous_variant	120775			BK004294	CCDS31417.1	11p15.4	2012-08-09			ENSG00000178358	ENSG00000178358		"""GPCR / Class A : Olfactory receptors"""	15146	protein-coding gene	gene with protein product							Standard	NM_001004684		Approved		uc010rav.2	Q8NGH3	OTTHUMG00000165742	ENST00000317834.3:c.357C>T	11.37:g.6942589C>T			B2RP06|Q6IFG8|Q96R51	Silent	SNP	ENST00000317834.3	37	CCDS31417.1																																																																																				0.448	OR2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385987.1	NM_001004684	
ADAM21	8747	mdanderson.org	37	14	70924613	70924613	+	Nonsense_Mutation	SNP	C	C	T	rs138262361	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:70924613C>T	ENST00000603540.1	+	2	655	c.397C>T	c.(397-399)Cga>Tga	p.R133*	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Nonsense_Mutation_p.R133*	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	133					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGGGGCTTTCGAGGAGTATT	0.448																																						.											0													74.0	86.0	82.0					14																	70924613		2202	4300	6502	SO:0001587	stop_gained	8747			AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.397C>T	14.37:g.70924613C>T	ENSP00000474385:p.Arg133*		O43507|Q2VPC6|Q32MR0	Nonsense_Mutation	SNP	ENST00000603540.1	37	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	9.227	1.034843	0.19590	.	.	ENSG00000139985	ENST00000267499	.	.	.	3.76	3.76	0.43208	.	0.682149	0.11938	U	0.515009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	12.162	0.54109	0.1717:0.8283:0.0:0.0	.	.	.	.	X	133	.	ENSP00000267499:R133X	R	+	1	2	ADAM21	69994366	0.003000	0.15002	0.322000	0.25334	0.071000	0.16799	1.122000	0.31295	2.090000	0.63153	0.557000	0.71058	CGA		0.448	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3		
AHNAK2	113146	mdanderson.org	37	14	105416323	105416323	+	Missense_Mutation	SNP	T	T	C	rs11847209	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:105416323T>C	ENST00000333244.5	-	7	5584	c.5465A>G	c.(5464-5466)aAg>aGg	p.K1822R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1822						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATTTTGAACTTGCTGTCTTT	0.617																																						.											0													178.0	215.0	203.0					14																	105416323		1930	4091	6021	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5465A>G	14.37:g.105416323T>C	ENSP00000353114:p.Lys1822Arg		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	33	0.01510989010989011	10	0.02032520325203252	6	0.016574585635359115	9	0.015734265734265736	8	0.010554089709762533	t	20.2	3.943625	0.73672	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	4.52	4.52	0.55395	.	.	.	.	.	T	0.02533	0.0077	H	0.94808	3.585	0.24253	N	0.995314	D	0.56521	0.976	P	0.56398	0.797	T	0.18745	-1.0327	9	0.44086	T	0.13	-26.778	9.1058	0.36696	0.0:0.0891:0.0:0.9109	rs11847209	1822	Q8IVF2	AHNK2_HUMAN	R	1822	ENSP00000353114:K1822R	ENSP00000353114:K1822R	K	-	2	0	AHNAK2	104487368	0.990000	0.36364	1.000000	0.80357	0.760000	0.43138	3.218000	0.51192	1.695000	0.51148	0.374000	0.22700	AAG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
ANAPC1	64682	mdanderson.org	37	2	112625661	112625661	+	Silent	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:112625661A>G	ENST00000341068.3	-	7	1396	c.624T>C	c.(622-624)ccT>ccC	p.P208P		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	208					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TGAACATAGTAGGTAAAGGTT	0.318																																						.											0													70.0	73.0	72.0					2																	112625661		2203	4300	6503	SO:0001819	synonymous_variant	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.624T>C	2.37:g.112625661A>G			Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	CCDS2093.1																																																																																				0.318	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
ANKRD30BL	554226	mdanderson.org	37	2	132919099	132919099	+	Silent	SNP	C	C	T	rs199974298		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:132919099C>T	ENST00000409867.1	-	1	429	c.180G>A	c.(178-180)aaG>aaA	p.K60K	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	60										endometrium(1)|kidney(3)	4						CCATTGTCGTCTTCTTCATCA	0.582																																						.											0																																										SO:0001819	synonymous_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.180G>A	2.37:g.132919099C>T			B8ZZL7	RNA	SNP	ENST00000409867.1	37																																																																																					0.582	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
BMP8A	353500	mdanderson.org	37	1	39988145	39988145	+	Silent	SNP	T	T	C	rs6524	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:39988145T>C	ENST00000331593.5	+	5	1285	c.939T>C	c.(937-939)ctT>ctC	p.L313L	RP11-69E11.4_ENST00000458207.1_RNA|RP11-69E11.4_ENST00000331856.2_RNA|RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000441741.1_RNA	NM_181809.3	NP_861525.2	Q7Z5Y6	BMP8A_HUMAN	bone morphogenetic protein 8a	313					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|diet induced thermogenesis (GO:0002024)|growth (GO:0040007)|negative regulation of insulin secretion (GO:0046676)|ossification (GO:0001503)|regulation of energy homeostasis (GO:2000505)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5	Lung NSC(20;2.08e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;9.69e-19)|Epithelial(16;9.34e-17)|all cancers(16;1.73e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCAGGACCTTGGCTGGCTGG	0.552																																						.											0													91.0	83.0	86.0					1																	39988145		2203	4300	6503	SO:0001819	synonymous_variant	353500			AY303954	CCDS437.1	1p35-p32	2014-01-30			ENSG00000183682	ENSG00000183682		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	21650	protein-coding gene	gene with protein product							Standard	NM_181809		Approved		uc001cdi.3	Q7Z5Y6	OTTHUMG00000008394	ENST00000331593.5:c.939T>C	1.37:g.39988145T>C			Q5T3A5	Silent	SNP	ENST00000331593.5	37	CCDS437.1																																																																																				0.552	BMP8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023079.1	NM_181809	
C5orf60	285679	mdanderson.org	37	5	179071892	179071893	+	Missense_Mutation	DNP	CA	CA	TG	rs4990389|rs4990388	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:179071892_179071893CA>TG	ENST00000448248.2	-	1	154_155	c.129_130TG>CA	c.(127-132)ttTGtt>ttCAtt	p.V44I	C5orf60_ENST00000506142.1_Intron	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	44						integral component of membrane (GO:0016021)		p.F43F(2)|p.V44I(2)		NS(1)|breast(1)|kidney(5)	7						CTGAACACAACAAAGAGGACGA	0.52																																						.											4	Substitution - Missense(2)|Substitution - coding silent(2)	kidney(4)																																								SO:0001583	missense	285679			BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.129_130delinsTG	5.37:g.179071892_179071893delinsTG	ENSP00000404583:p.Val44Ile		A1L488|B7ZM52|B7ZM53	Silent	DNP	ENST00000448248.2	37	CCDS47353.1																																																																																				0.520	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372148.2	NM_001142306	
CDC27	996	mdanderson.org	37	17	45234325	45234325	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:45234325G>A	ENST00000066544.3	-	7	889	c.796C>T	c.(796-798)Cga>Tga	p.R266*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.R266*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.R205*|CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000531206.1_Nonsense_Mutation_p.R266*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	266					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATAAACTTCGACCAGTTTTT	0.363																																						.											0													60.0	65.0	63.0					17																	45234325		2200	4295	6495	SO:0001587	stop_gained	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.796C>T	17.37:g.45234325G>A	ENSP00000066544:p.Arg266*		G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117088	0.77323	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.	.	.	5.64	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5002	13.5956	0.61987	0.0:0.0:0.8433:0.1567	.	.	.	.	X	266;266;205;266;266	.	ENSP00000066544:R266X	R	-	1	2	CDC27	42589324	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.123000	0.71614	1.354000	0.45846	0.460000	0.39030	CGA		0.363	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CDC27	996	mdanderson.org	37	17	45234625	45234625	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:45234625C>T	ENST00000066544.3	-	6	694	c.601G>A	c.(601-603)Gtt>Att	p.V201I	CDC27_ENST00000527547.1_Missense_Mutation_p.V201I|CDC27_ENST00000446365.2_Missense_Mutation_p.V140I|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000531206.1_Missense_Mutation_p.V201I	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.V201I(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCCGTAAGAACTGTCTCAGGC	0.338																																						.											2	Substitution - Missense(2)	kidney(2)											58.0	59.0	59.0					17																	45234625		2203	4300	6503	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.601G>A	17.37:g.45234625C>T	ENSP00000066544:p.Val201Ile		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164668	0.38217	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.67171	-0.25;-0.23;0.02;-0.25;0.85	5.11	5.11	0.69529	.	0.065071	0.64402	D	0.000010	T	0.52805	0.1757	N	0.24115	0.695	0.53688	D	0.999973	B;B;B;B	0.22211	0.031;0.053;0.066;0.031	B;B;B;B	0.20577	0.024;0.022;0.03;0.01	T	0.47923	-0.9079	10	0.22109	T	0.4	-10.941	16.0383	0.80645	0.0:1.0:0.0:0.0	.	140;201;201;201	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	I	201;201;140;201;201	ENSP00000066544:V201I;ENSP00000434614:V201I;ENSP00000392802:V140I;ENSP00000437339:V201I;ENSP00000432105:V201I	ENSP00000066544:V201I	V	-	1	0	CDC27	42589624	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.951000	0.75983	2.391000	0.81399	0.557000	0.71058	GTT		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CYP2F1	1572	mdanderson.org	37	19	41633809	41633809	+	Missense_Mutation	SNP	G	G	A	rs139951793	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:41633809G>A	ENST00000331105.2	+	10	1370	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	433					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGCAGGGCGCCGTCTGTGC	0.612																																						.											0													14.0	16.0	15.0					19																	41633809		2197	4288	6485	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1298G>A	19.37:g.41633809G>A	ENSP00000333534:p.Arg433His		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	g	12.45	1.941510	0.34283	.	.	ENSG00000197446	ENST00000331105	T	0.70631	-0.5	3.1	2.05	0.26809	Cytochrome P450, conserved site (1);	0.176601	0.41194	U	0.000921	T	0.56202	0.1969	L	0.58510	1.815	0.09310	N	1	P	0.40515	0.719	B	0.29862	0.108	T	0.55661	-0.8106	10	0.87932	D	0	.	5.1896	0.15203	0.2785:0.0:0.7215:0.0	.	433	P24903	CP2F1_HUMAN	H	433	ENSP00000333534:R433H	ENSP00000333534:R433H	R	+	2	0	CYP2F1	46325649	0.000000	0.05858	0.010000	0.14722	0.328000	0.28507	0.452000	0.21795	0.529000	0.28599	0.089000	0.15464	CGC		0.612	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2		
DDX11	1663	mdanderson.org	37	12	31242981	31242981	+	Silent	SNP	C	C	A	rs3892690		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:31242981C>A	ENST00000407793.2	+	9	1293	c.1042C>A	c.(1042-1044)Cgg>Agg	p.R348R	DDX11_ENST00000545668.1_Silent_p.R348R|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Silent_p.R348R|DDX11_ENST00000228264.6_Silent_p.R322R|DDX11_ENST00000350437.4_Silent_p.R348R	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	348	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GAAGGAGGCCCGGGCCTGTCC	0.647										Multiple Myeloma(12;0.14)																												.											0													1.0	2.0	2.0					12																	31242981		1322	2876	4198	SO:0001819	synonymous_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1042C>A	12.37:g.31242981C>A			Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	ENST00000407793.2	37	CCDS44856.1																																																																																				0.647	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
FRG1B	284802	mdanderson.org	37	20	29624055	29624055	+	Missense_Mutation	SNP	C	C	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:29624055C>A	ENST00000278882.3	+	4	459	c.79C>A	c.(79-81)Cca>Aca	p.P27T	FRG1B_ENST00000439954.2_Missense_Mutation_p.P32T|FRG1B_ENST00000358464.4_Missense_Mutation_p.P27T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	27										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCCTAGTCCTCCAGAGCAGTT	0.279																																						.											0																																										SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.79C>A	20.37:g.29624055C>A	ENSP00000278882:p.Pro27Thr		C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	c	8.757	0.922733	0.18056	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42513	0.97	1.91	1.91	0.25777	.	0.058688	0.64402	D	0.000001	T	0.36552	0.0971	.	.	.	0.45490	D	0.998458	.	.	.	.	.	.	T	0.06698	-1.0812	7	0.18276	T	0.48	.	9.8627	0.41125	0.0:1.0:0.0:0.0	.	.	.	.	T	27;32;27	ENSP00000408863:P32T	ENSP00000278882:P27T	P	+	1	0	FRG1B	28237716	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	6.195000	0.72088	1.383000	0.46405	0.184000	0.17185	CCA		0.279	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
FRG1B	284802	mdanderson.org	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						.											2	Substitution - Missense(2)	urinary_tract(2)																																								SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr		C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
FRG1B	284802	mdanderson.org	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	64								p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343																																						.											4	Substitution - Missense(4)	urinary_tract(2)|prostate(2)																																								SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.191T>C	20.37:g.29625947T>C	ENSP00000278882:p.Ile64Thr		C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	t	11.16	1.557441	0.27827	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.53640	0.61	1.68	1.68	0.24146	.	0.048324	0.85682	N	0.000000	T	0.39279	0.1072	.	.	.	0.50313	D	0.999869	B	0.11235	0.004	B	0.30943	0.122	T	0.37549	-0.9701	9	0.62326	D	0.03	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	69	F5H5R5	.	T	64;69;64	ENSP00000408863:I69T	ENSP00000278882:I64T	I	+	2	0	FRG1B	28239608	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	6.623000	0.74238	1.028000	0.39785	0.155000	0.16302	ATT		0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
FRG1B	284802	mdanderson.org	37	20	29628273	29628273	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr20:29628273A>G	ENST00000278882.3	+	6	655	c.275A>G	c.(274-276)aAt>aGt	p.N92S	FRG1B_ENST00000439954.2_Missense_Mutation_p.N97S|FRG1B_ENST00000358464.4_Missense_Mutation_p.N92S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	92										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTAGATGCAATGAAGCAGGG	0.373																																						.											0																																										SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.275A>G	20.37:g.29628273A>G	ENSP00000278882:p.Asn92Ser		C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	a	5.285	0.237973	0.10023	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.41400	1.0	2.08	2.08	0.27032	Actin cross-linking (1);	0.091289	0.85682	D	0.000000	T	0.23649	0.0572	.	.	.	0.35235	D	0.777251	B;B	0.12630	0.001;0.006	B;B	0.14578	0.005;0.011	T	0.17319	-1.0373	9	0.16420	T	0.52	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	97;92	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	92;97;92	ENSP00000408863:N97S	ENSP00000278882:N92S	N	+	2	0	FRG1B	28241934	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.067000	0.71193	1.208000	0.43306	0.347000	0.21830	AAT		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
GTPBP3	84705	mdanderson.org	37	19	17448961	17448961	+	Silent	SNP	A	A	C	rs1864112	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:17448961A>C	ENST00000324894.8	+	2	266	c.198A>C	c.(196-198)acA>acC	p.T66T	GTPBP3_ENST00000600625.1_Silent_p.T66T|GTPBP3_ENST00000358792.7_Silent_p.T66T|GTPBP3_ENST00000361619.5_Silent_p.T88T|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	66					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GAATTCTCACAGCACCCCGAG	0.711													G|||	3123	0.623602	0.8669	0.4885	5008	,	,		13513	0.2956		0.7217	False		,,,				2504	0.6278					.											0								G	,,,	3732,640		1602,528,56	12.0	15.0	14.0		198,264,198,198	-3.6	0.6	19	dbSNP_92	14	6056,2504		2166,1724,390	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GTPBP3	NM_001128855.2,NM_001195422.1,NM_032620.3,NM_133644.3	,,,	3768,2252,446	CC,CA,AA		29.2523,14.6386,24.3118	,,,	66/472,88/515,66/493,66/525	17448961	9788,3144	2186	4280	6466	SO:0001819	synonymous_variant	84705			AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.198A>C	19.37:g.17448961A>C			A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Silent	SNP	ENST00000324894.8	37	CCDS32951.1																																																																																				0.711	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620	
HEG1	57493	mdanderson.org	37	3	124732419	124732419	+	Silent	SNP	A	A	G	rs202026679|rs540539937|rs376430192		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:124732419A>G	ENST00000311127.4	-	6	2071	c.2004T>C	c.(2002-2004)tcT>tcC	p.S668S	HEG1_ENST00000477536.1_5'UTR	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	668	Ser-rich.				cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						aagaagaagaagaggaggagg	0.488																																						.											0													51.0	56.0	55.0					3																	124732419		2137	4243	6380	SO:0001819	synonymous_variant	57493			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.2004T>C	3.37:g.124732419A>G			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	CCDS46898.1																																																																																				0.488	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386	
HLA-DRB5	3127	mdanderson.org	37	6	32487390	32487390	+	Missense_Mutation	SNP	T	T	G	rs77180119	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32487390T>G	ENST00000374975.3	-	3	471	c.409A>C	c.(409-411)Acc>Ccc	p.T137P		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGCTGCAGGGTCTGGGTCCTT	0.517													G|||	3551	0.709065	0.736	0.8357	5008	,	,		6170	0.6498		0.7823	False		,,,				2504	0.5685					.											0								G	PRO/THR	2269,1289		1096,77,606	38.0	41.0	40.0		409	1.7	1.0	6	dbSNP_131	40	5238,2644		2530,178,1233	no	missense	HLA-DRB5	NM_002125.3	38	3626,255,1839	GG,GT,TT		33.5448,36.2282,34.3794	benign	137/267	32487390	7507,3933	1779	3941	5720	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.409A>C	6.37:g.32487390T>G	ENSP00000364114:p.Thr137Pro			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1531	0.701007326007326	316	0.6422764227642277	279	0.7707182320441989	384	0.6713286713286714	552	0.7282321899736148	.	0.033	-1.320251	0.01320	0.637718	0.664552	ENSG00000198502	ENST00000374975	T	0.02890	4.12	4.69	1.73	0.24493	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.662393	0.15664	N	0.250756	T	0.00241	0.0007	N	0.00360	-1.595	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38178	-0.9673	9	0.02654	T	1	.	7.637	0.28272	0.0:0.2436:0.342:0.4144	.	64;137	Q29973;Q30154	.;DRB5_HUMAN	P	137	ENSP00000364114:T137P	ENSP00000364114:T137P	T	-	1	0	HLA-DRB5	32595368	0.029000	0.19370	0.970000	0.41538	0.617000	0.37484	0.078000	0.14761	0.323000	0.23307	-0.947000	0.02670	ACC		0.517	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125	
HLA-DRB5	3127	mdanderson.org	37	6	32487398	32487398	+	Missense_Mutation	SNP	C	C	T	rs115198947	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32487398C>T	ENST00000374975.3	-	3	463	c.401G>A	c.(400-402)aGg>aAg	p.R134K		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						GGTCTGGGTCCTTGCAGGATA	0.507													T|||	3551	0.709065	0.736	0.8357	5008	,	,		5924	0.6498		0.7833	False		,,,				2504	0.5675					.											0								T	LYS/ARG	2211,1295		1063,85,605	37.0	40.0	39.0		401	2.3	0.1	6	dbSNP_132	39	5153,2663		2482,189,1237	no	missense	HLA-DRB5	NM_002125.3	26	3545,274,1842	TT,TC,CC		34.0711,36.9367,34.9585	benign	134/267	32487398	7364,3958	1753	3908	5661	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.401G>A	6.37:g.32487398C>T	ENSP00000364114:p.Arg134Lys			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	1518	0.695054945054945	313	0.6361788617886179	278	0.7679558011049724	379	0.6625874125874126	548	0.7229551451187335	.	0.317	-0.964494	0.02249	0.630633	0.659289	ENSG00000198502	ENST00000374975	T	0.02552	4.25	4.69	2.31	0.28768	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.538580	0.21625	N	0.071572	T	0.00271	0.0008	N	0.00690	-1.25	0.58432	P	1.0000000000287557E-6	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40175	-0.9577	9	0.02654	T	1	.	7.5532	0.27808	0.0:0.2637:0.0:0.7363	.	61;134	Q29973;Q30154	.;DRB5_HUMAN	K	134	ENSP00000364114:R134K	ENSP00000364114:R134K	R	-	2	0	HLA-DRB5	32595376	0.152000	0.22762	0.066000	0.19879	0.555000	0.35460	0.188000	0.17018	0.099000	0.17552	-0.369000	0.07265	AGG		0.507	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125	
HLA-DRB5	3127	mdanderson.org	37	6	32497970	32497970	+	Missense_Mutation	SNP	T	T	C	rs201644181		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:32497970T>C	ENST00000374975.3	-	1	94	c.32A>G	c.(31-33)tAc>tGc	p.Y11C		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CTTTGCCATGTAGGAACCTCC	0.567																																						.											0													56.0	64.0	61.0					6																	32497970		2172	4263	6435	SO:0001583	missense	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.32A>G	6.37:g.32497970T>C	ENSP00000364114:p.Tyr11Cys			Missense_Mutation	SNP	ENST00000374975.3	37	CCDS4751.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.014668	0.00422	.	.	ENSG00000198502	ENST00000374975	T	0.00256	8.42	4.54	0.796	0.18648	MHC classes I/II-like antigen recognition protein (1);	.	.	.	.	T	0.00012	0.0000	N	0.00419	-1.52	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27191	-1.0081	9	0.02654	T	1	.	9.3114	0.37908	0.0:0.755:0.0:0.245	.	11	Q30154	DRB5_HUMAN	C	11	ENSP00000364114:Y11C	ENSP00000364114:Y11C	Y	-	2	0	HLA-DRB5	32605948	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.070000	0.14573	-0.038000	0.13624	-2.830000	0.00107	TAC		0.567	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076022.2	NM_002125	
HOMEZ	57594	mdanderson.org	37	14	23744844	23744844	+	Silent	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:23744844C>T	ENST00000357460.5	-	2	1757	c.1593G>A	c.(1591-1593)gaG>gaA	p.E531E	HOMEZ_ENST00000561013.1_Silent_p.E533E|HOMEZ_ENST00000431326.2_Silent_p.E533E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	531	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		cctcctcctcctcttcctcat	0.493																																						.											0													37.0	36.0	36.0					14																	23744844		2196	4286	6482	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1593G>A	14.37:g.23744844C>T			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																				0.493	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
HOMEZ	57594	mdanderson.org	37	14	23744847	23744847	+	Silent	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr14:23744847T>C	ENST00000357460.5	-	2	1754	c.1590A>G	c.(1588-1590)gaA>gaG	p.E530E	HOMEZ_ENST00000561013.1_Silent_p.E532E|HOMEZ_ENST00000431326.2_Silent_p.E532E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	530	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		cctcctcctcttcctcatcat	0.488																																						.											0													37.0	36.0	36.0					14																	23744847		2196	4291	6487	SO:0001819	synonymous_variant	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1590A>G	14.37:g.23744847T>C			A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Silent	SNP	ENST00000357460.5	37	CCDS45085.1																																																																																				0.488	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
IGSF3	3321	mdanderson.org	37	1	117158748	117158748	+	Silent	SNP	A	A	G	rs199696016		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:117158748A>G	ENST00000369486.3	-	3	1140	c.375T>C	c.(373-375)acT>acC	p.T125T	IGSF3_ENST00000318837.6_Silent_p.T125T|IGSF3_ENST00000369483.1_Silent_p.T125T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	125	Ig-like C2-type 1.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T125T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATTGCTTATCAGTGCTGGGTG	0.498																																						.											2	Substitution - coding silent(2)	endometrium(2)											62.0	56.0	58.0					1																	117158748		2203	4300	6503	SO:0001819	synonymous_variant	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.375T>C	1.37:g.117158748A>G			A6NJZ6|A6NMC7	Silent	SNP	ENST00000369486.3	37	CCDS30813.1																																																																																				0.498	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
HRNR	388697	mdanderson.org	37	1	152192163	152192163	+	Missense_Mutation	SNP	G	G	T	rs61814943		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:152192163G>T	ENST00000368801.2	-	3	2017	c.1942C>A	c.(1942-1944)Cgc>Agc	p.R648S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	648					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCATAGCGAGAAGACTGA	0.577																																						.											0													210.0	213.0	212.0					1																	152192163		2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1942C>A	1.37:g.152192163G>T	ENSP00000357791:p.Arg648Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	8.020	0.759338	0.15846	.	.	ENSG00000197915	ENST00000368801	T	0.03717	3.83	3.86	-7.73	0.01245	.	.	.	.	.	T	0.00271	0.0008	N	0.01352	-0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.48163	-0.9059	9	0.02654	T	1	.	7.1181	0.25429	0.0:0.4064:0.3856:0.2081	rs61814943	648	Q86YZ3	HORN_HUMAN	S	648	ENSP00000357791:R648S	ENSP00000357791:R648S	R	-	1	0	HRNR	150458787	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.911000	0.00336	-1.297000	0.02351	-0.866000	0.03004	CGC		0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
KIR3DL1	3811	mdanderson.org	37	19	55286795	55286795	+	Intron	SNP	T	T	C	rs12982263	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:55286795T>C	ENST00000538269.1	+	2	61				KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.A183A|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Silent_p.A183A|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CATTCCAGGCTGACTTTCCTC	0.582													.|||	869	0.173522	0.2201	0.147	5008	,	,		14338	0.0556		0.1362	False		,,,				2504	0.2894					.											0								T		409,3801		116,177,1812	126.0	140.0	135.0		549	-2.2	0.0	19	dbSNP_121	135	403,7953		122,159,3897	no	coding-synonymous	KIR2DL1	NM_014218.2		238,336,5709	CC,CT,TT		4.8229,9.715,6.4619		183/349	55286795	812,11754	2105	4178	6283	SO:0001627	intron_variant	3802			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-42194T>C	19.37:g.55286795T>C			O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37																																																																																					0.582	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
KRTAP4-8	728224	mdanderson.org	37	17	39254149	39254149	+	Missense_Mutation	SNP	G	G	C	rs201246375		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr17:39254149G>C	ENST00000333822.4	-	1	244	c.188C>G	c.(187-189)aCc>aGc	p.T63S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	63	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCGACAGCAGGTGGGCTGGCA	0.652																																						.											0													7.0	10.0	9.0					17																	39254149		651	1515	2166	SO:0001583	missense	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.188C>G	17.37:g.39254149G>C	ENSP00000328444:p.Thr63Ser		A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153662	0.06585	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.01215	5.16	3.11	-1.04	0.10068	.	1.573260	0.03861	N	0.273912	T	0.00724	0.0024	N	0.10809	0.05	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.43637	-0.9379	10	0.05721	T	0.95	.	4.7356	0.12986	0.2319:0.434:0.3341:0.0	.	63	Q9BYQ9	KRA48_HUMAN	S	63	ENSP00000328444:T63S	ENSP00000414561:T63S	T	-	2	0	KRTAP4-8	36507675	0.000000	0.05858	0.109000	0.21407	0.234000	0.25298	-2.396000	0.01052	-0.528000	0.06366	0.449000	0.29647	ACC		0.652	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
KRTAP5-1	387264	mdanderson.org	37	11	1605979	1605979	+	Silent	SNP	A	A	G	rs59646474		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1605979A>G	ENST00000382171.2	-	1	534	c.501T>C	c.(499-501)tgT>tgC	p.C167C	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	167	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAAGAACCACAGGCCCCCT	0.657																																						.											0													59.0	74.0	69.0					11																	1605979		2202	4299	6501	SO:0001819	synonymous_variant	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.501T>C	11.37:g.1605979A>G				Silent	SNP	ENST00000382171.2	37	CCDS31330.1																																																																																				0.657	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922	
KRTAP5-7	440050	mdanderson.org	37	11	71238645	71238645	+	Missense_Mutation	SNP	C	C	A	rs201904441	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:71238645C>A	ENST00000398536.4	+	1	333	c.299C>A	c.(298-300)cCc>cAc	p.P100H		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	100	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						tgctataagccctgctgctgc	0.632													c|||	3	0.000599042	0.0023	0.0	5008	,	,		14152	0.0		0.0	False		,,,				2504	0.0					.											0													69.0	88.0	82.0					11																	71238645		2199	4292	6491	SO:0001583	missense	440050			AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.299C>A	11.37:g.71238645C>A	ENSP00000417330:p.Pro100His		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	8.998	0.979405	0.18812	.	.	ENSG00000244411	ENST00000398536	T	0.01397	4.94	1.34	1.34	0.21922	.	.	.	.	.	T	0.04137	0.0115	M	0.91510	3.215	0.21579	N	0.999634	D	0.65815	0.995	P	0.46758	0.526	T	0.32534	-0.9903	9	0.51188	T	0.08	.	3.7081	0.08408	0.0:0.7549:0.0:0.2451	.	100	Q6L8G8	KRA57_HUMAN	H	100	ENSP00000417330:P100H	ENSP00000417330:P100H	P	+	2	0	KRTAP5-7	70916293	0.012000	0.17670	0.672000	0.29872	0.043000	0.13939	-0.334000	0.07883	1.080000	0.41073	0.281000	0.19383	CCC		0.632	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1		
KRTAP5-7	440050	mdanderson.org	37	11	71238685	71238685	+	Silent	SNP	G	G	A	rs568152352	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:71238685G>A	ENST00000398536.4	+	1	373	c.339G>A	c.(337-339)caG>caA	p.Q113Q		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	113	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						cctgctgccagtccagctgct	0.617													g|||	3	0.000599042	0.0023	0.0	5008	,	,		19208	0.0		0.0	False		,,,				2504	0.0					.											0																																										SO:0001819	synonymous_variant	440050			AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.339G>A	11.37:g.71238685G>A			B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	CCDS41682.1																																																																																				0.617	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1		
KRTAP5-7	440050	mdanderson.org	37	11	71238705	71238705	+	Missense_Mutation	SNP	G	G	A	rs536797652		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:71238705G>A	ENST00000398536.4	+	1	393	c.359G>A	c.(358-360)tGc>tAc	p.C120Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	120	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C120Y(2)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						tgtaagccctgctgctgccag	0.607													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20154	0.0		0.0	False		,,,				2504	0.0					.											2	Substitution - Missense(2)	kidney(2)											129.0	139.0	136.0					11																	71238705		2200	4294	6494	SO:0001583	missense	440050			AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.359G>A	11.37:g.71238705G>A	ENSP00000417330:p.Cys120Tyr		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	4.462	0.085611	0.08583	.	.	ENSG00000244411	ENST00000398536	T	0.01304	5.03	1.87	1.87	0.25490	.	.	.	.	.	T	0.01421	0.0046	L	0.60455	1.87	0.26143	N	0.980242	B	0.12630	0.006	B	0.08055	0.003	T	0.51733	-0.8668	9	0.02654	T	1	.	4.3831	0.11304	0.201:0.0:0.799:0.0	.	120	Q6L8G8	KRA57_HUMAN	Y	120	ENSP00000417330:C120Y	ENSP00000417330:C120Y	C	+	2	0	KRTAP5-7	70916353	0.718000	0.27976	0.999000	0.59377	0.075000	0.17131	2.143000	0.42187	1.367000	0.46095	0.289000	0.19496	TGC		0.607	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1		
HNRNPCL1	343069	mdanderson.org	37	1	12908050	12908050	+	Silent	SNP	C	C	A	rs538966995	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:12908050C>A	ENST00000317869.6	-	2	318	c.93G>T	c.(91-93)tcG>tcT	p.S31S		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	31	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CCTCCACATCCGATTTCTTGA	0.468													.|||	19	0.00379393	0.0129	0.0029	5008	,	,		22489	0.0		0.0	False		,,,				2504	0.0					.											0													194.0	178.0	183.0					1																	12908050		2203	4300	6503	SO:0001819	synonymous_variant	0			BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.93G>T	1.37:g.12908050C>A			B2RP44	Silent	SNP	ENST00000317869.6	37	CCDS30591.1																																																																																				0.468	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
MADCAM1	8174	mdanderson.org	37	19	501714	501714	+	Missense_Mutation	SNP	C	C	A	rs78071082	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:501714C>A	ENST00000215637.3	+	4	759	c.713C>A	c.(712-714)cCg>cAg	p.P238Q	MADCAM1_ENST00000382683.4_Intron|MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P19Q	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	238	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACCTCCCCGGAGTCTCCC	0.667																																						.											0													27.0	42.0	37.0					19																	501714		2202	4299	6501	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.713C>A	19.37:g.501714C>A	ENSP00000215637:p.Pro238Gln		A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	9.846	1.192318	0.21954	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.11495	2.77	3.69	-3.39	0.04868	.	.	.	.	.	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	P	0.45078	0.85	B	0.40134	0.32	T	0.23084	-1.0198	9	0.34782	T	0.22	.	1.1525	0.01789	0.1428:0.3186:0.2805:0.2581	.	238	Q13477	MADCA_HUMAN	Q	262;254;246;238	ENSP00000215637:P238Q	ENSP00000215637:P238Q	P	+	2	0	MADCAM1	452714	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.794000	0.04584	-0.567000	0.06046	-0.145000	0.13849	CCG		0.667	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760	
ANKRD30BL	554226	mdanderson.org	37	2	133014602	133014602	+	Intron	SNP	G	G	C	rs75245503	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:133014602G>C	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GCCACAGACAGGAGGGAGGTA	0.721																																						.											0													27.0	45.0	39.0					2																	133014602		1553	3578	5131	SO:0001627	intron_variant	100313824					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+499C>G	2.37:g.133014602G>C			B8ZZL7	RNA	SNP	ENST00000470729.1	37																																																																																					0.721	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1	NR_027019	
KMT2C	58508	mdanderson.org	37	7	151919670	151919670	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:151919670G>A	ENST00000262189.6	-	21	3639	c.3421C>T	c.(3421-3423)Cct>Tct	p.P1141S	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1141S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1141					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)	p.P1141S(2)									TTAGACGCAGGCATATAGGGT	0.398																																						.											2	Substitution - Missense(2)	lung(2)											49.0	39.0	42.0					7																	151919670		2202	4299	6501	SO:0001583	missense	58508			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.3421C>T	7.37:g.151919670G>A	ENSP00000262189:p.Pro1141Ser		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713743	0.30413	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.62498	0.02;0.02	5.73	5.73	0.89815	Zinc finger, FYVE/PHD-type (1);	0.146146	0.31290	N	0.007906	T	0.73999	0.3659	M	0.76838	2.35	0.80722	D	1	D;B	0.57899	0.981;0.42	P;B	0.52109	0.69;0.099	T	0.76030	-0.3108	10	0.51188	T	0.08	.	18.0799	0.89439	0.0:0.0:1.0:0.0	.	1141;202	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	1141	ENSP00000262189:P1141S;ENSP00000347325:P1141S	ENSP00000262189:P1141S	P	-	1	0	MLL3	151550603	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.113000	0.50376	2.703000	0.92315	0.650000	0.86243	CCT		0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
APEH	327	mdanderson.org;bcgsc.ca	37	3	49723916	49723916	+	IGR	SNP	T	T	G	rs201139286	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:49723916T>G	ENST00000296456.5	+	0	3220				AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_Splice_Site|MST1_ENST00000545762.1_Splice_Site|MST1_ENST00000449682.2_Splice_Site|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGGACCCTTAGATGGACC	0.657																																						.											0													27.0	29.0	28.0					3																	49723916		2202	4296	6498	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723916T>G			Q9BQ33|Q9P0Y2	Splice_Site	SNP	ENST00000296456.5	37	CCDS2801.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290595	0.40494	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	.	.	.	4.94	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1429	0.31093	0.0:0.1325:0.0:0.8675	.	.	.	.	.	-1	.	.	.	-	.	.	MST1	49698920	0.505000	0.26131	0.435000	0.26784	0.223000	0.24884	2.574000	0.46016	1.984000	0.57885	0.533000	0.62120	.		0.657	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2		
MUC4	4585	mdanderson.org	37	3	195515069	195515069	+	Missense_Mutation	SNP	A	A	C	rs574846961		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr3:195515069A>C	ENST00000463781.3	-	2	3841	c.3382T>G	c.(3382-3384)Tca>Gca	p.S1128A	MUC4_ENST00000475231.1_Missense_Mutation_p.S1128A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	567					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGATGCTGAGGAAGTGTCG	0.562																																						.											0																																										SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3382T>G	3.37:g.195515069A>C	ENSP00000417498:p.Ser1128Ala		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	2.042	-0.419725	0.04734	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29655	1.58;1.56	0.814	-1.63	0.08345	.	.	.	.	.	T	0.21631	0.0521	N	0.19112	0.55	0.09310	N	1	P	0.42357	0.777	P	0.49361	0.608	T	0.12451	-1.0547	8	.	.	.	.	2.4008	0.04400	0.3384:0.0:0.4102:0.2514	.	1128	E7ESK3	.	A	1128	ENSP00000417498:S1128A;ENSP00000420243:S1128A	.	S	-	1	0	MUC4	196999464	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.489000	0.06490	-0.853000	0.04136	0.055000	0.15244	TCA		0.562	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC6	4588	mdanderson.org	37	11	1016645	1016645	+	Silent	SNP	G	G	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1016645G>C	ENST00000421673.2	-	31	6206	c.6156C>G	c.(6154-6156)ctC>ctG	p.L2052L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2052	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCCTTGAGCGTTGTTG	0.562																																						.											0													466.0	446.0	453.0					11																	1016645		2199	4293	6492	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6156C>G	11.37:g.1016645G>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1017200	1017200	+	Silent	SNP	G	G	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:1017200G>C	ENST00000421673.2	-	31	5651	c.5601C>G	c.(5599-5601)gcC>gcG	p.A1867A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1867	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTGGATGGAGGCAGAAGTGG	0.572																																						.											0													424.0	405.0	411.0					11																	1017200		2199	4285	6484	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5601C>G	11.37:g.1017200G>C			O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MYO3A	53904	mdanderson.org	37	10	26286159	26286159	+	Silent	SNP	G	G	T	rs12257119	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr10:26286159G>T	ENST00000265944.5	+	6	646	c.480G>T	c.(478-480)acG>acT	p.T160T	MYO3A_ENST00000543632.1_Silent_p.T160T|MYO3A_ENST00000376301.1_Silent_p.T160T|MYO3A_ENST00000376302.1_Silent_p.T160T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	160	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TATTGACCACGGAAGGTGGAG	0.318													T|||	458	0.0914537	0.2526	0.0548	5008	,	,		20309	0.004		0.0626	False		,,,				2504	0.0194					.											0								T		956,3450	734.1+/-410.5	95,766,1342	84.0	77.0	79.0		480	-4.3	0.7	10	dbSNP_120	79	469,8123	795.6+/-407.5	17,435,3844	no	coding-synonymous	MYO3A	NM_017433.4		112,1201,5186	TT,TG,GG		5.4586,21.6977,10.9632		160/1617	26286159	1425,11573	2203	4296	6499	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.480G>T	10.37:g.26286159G>T			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				0.318	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433	
NANOG	79923	mdanderson.org	37	12	7947571	7947571	+	Silent	SNP	C	C	T	rs4012937		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:7947571C>T	ENST00000229307.4	+	4	1017	c.798C>T	c.(796-798)gcC>gcT	p.A266A	NANOG_ENST00000526286.1_Silent_p.A250A	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	266	Sufficient for strong transactivation activity. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		TGGAGGCTGCCTTGGAAGCTG	0.473																																						.											0													6.0	7.0	7.0					12																	7947571		907	2018	2925	SO:0001819	synonymous_variant	79923			AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.798C>T	12.37:g.7947571C>T			D3DUU4|Q2TTG0|Q6JZS5	Silent	SNP	ENST00000229307.4	37	CCDS31736.1																																																																																				0.473	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865	
NAB2	4665	mdanderson.org	37	12	57485373	57485373	+	Silent	SNP	G	G	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:57485373G>T	ENST00000300131.3	+	2	927	c.549G>T	c.(547-549)cgG>cgT	p.R183R	NAB2_ENST00000357680.4_Silent_p.R183R|NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000342556.6_Silent_p.R183R	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	183					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGGACCCCCGGATCTGGCCAG	0.667																																						.											0													24.0	27.0	26.0					12																	57485373		2202	4299	6501	SO:0001819	synonymous_variant	4665			BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.549G>T	12.37:g.57485373G>T			B2RAK3|O76006|Q14797	Silent	SNP	ENST00000300131.3	37	CCDS8930.1																																																																																				0.667	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967	
NBPF10	100132406	mdanderson.org	37	1	145302775	145302775	+	Missense_Mutation	SNP	T	T	G	rs376014420		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:145302775T>G	ENST00000369339.3	+	5	653	c.400T>G	c.(400-402)Tat>Gat	p.Y134D	NBPF10_ENST00000369338.1_Missense_Mutation_p.Y134D|NBPF10_ENST00000342960.5_Missense_Mutation_p.Y405D|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	405						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTCACTCCGTATGAGCCGGA	0.577																																						.											0																																										SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.400T>G	1.37:g.145302775T>G	ENSP00000358345:p.Tyr134Asp		Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37		.	.	.	.	.	.	.	.	.	.	.	0	-2.664813	0.00107	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.46063	0.88;4.33	0.712	-0.91	0.10511	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.02654	T	1	.	.	.	.	.	134	A8MQ30	.	D	330;134;134;405	ENSP00000358344:Y134D;ENSP00000345684:Y405D	ENSP00000345684:Y405D	Y	+	1	0	NBPF10	144014132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	-1.158000	0.02811	-1.371000	0.01190	TAT		0.577	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703	
NCF1	653361	mdanderson.org	37	7	74197914	74197914	+	Silent	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:74197914G>A	ENST00000289473.4	+	7	691	c.621G>A	c.(619-621)gcG>gcA	p.A207A	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	207	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	GGATCCCAGCGTCCTTCCTCG	0.637																																						.											0													72.0	63.0	66.0					7																	74197914		2202	4298	6500	SO:0001819	synonymous_variant	653361			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.621G>A	7.37:g.74197914G>A			A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Silent	SNP	ENST00000289473.4	37	CCDS34657.1																																																																																				0.637	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314560.1	NM_000265	
NLRP7	199713	mdanderson.org	37	19	55450667	55450667	+	Missense_Mutation	SNP	T	T	A	rs61738423	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:55450667T>A	ENST00000590030.1	-	3	1560	c.1520A>T	c.(1519-1521)gAa>gTa	p.E507V	NLRP7_ENST00000588756.1_Missense_Mutation_p.E507V|NLRP7_ENST00000328092.5_Missense_Mutation_p.E507V|NLRP7_ENST00000446217.1_Missense_Mutation_p.E535V|NLRP7_ENST00000592784.1_Missense_Mutation_p.E507V|NLRP7_ENST00000340844.2_Missense_Mutation_p.E507V|NLRP7_ENST00000448121.2_Missense_Mutation_p.E507V			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	507							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGTCTTTCTTCTCCGGAAAG	0.567													.|||	6	0.00119808	0.003	0.0	5008	,	,		18229	0.0		0.001	False		,,,				2504	0.001					.											0								T	VAL/GLU,VAL/GLU,VAL/GLU	8,4398	12.9+/-30.5	1,6,2196	82.0	81.0	81.0		1520,1520,1520	1.3	0.0	19	dbSNP_129	81	2,8598		0,2,4298	no	missense,missense,missense	NLRP7	NM_001127255.1,NM_139176.3,NM_206828.3	121,121,121	1,8,6494	AA,AT,TT		0.0233,0.1816,0.0769	benign,benign,benign	507/1038,507/1010,507/981	55450667	10,12996	2203	4300	6503	SO:0001583	missense	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1520A>T	19.37:g.55450667T>A	ENSP00000465520:p.Glu507Val		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	T	8.366	0.834189	0.16820	0.001816	2.33E-4	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	T;T;T;T	0.73363	-0.7;-0.7;-0.74;-0.71	2.34	1.31	0.21738	.	0.000000	0.33631	N	0.004719	T	0.61299	0.2336	L	0.52126	1.63	0.09310	N	1	B;B;B;B	0.31125	0.124;0.124;0.124;0.309	B;B;B;B	0.34180	0.086;0.086;0.086;0.177	T	0.43130	-0.9410	10	0.15066	T	0.55	.	4.656	0.12618	0.2831:0.0:0.0:0.7169	rs61738423	535;507;507;507	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	V	507;507;507;535;274	ENSP00000329568:E507V;ENSP00000409137:E507V;ENSP00000339491:E507V;ENSP00000414273:E535V	ENSP00000329568:E507V	E	-	2	0	NLRP7	60142479	0.001000	0.12720	0.003000	0.11579	0.001000	0.01503	0.712000	0.25779	0.337000	0.23665	-0.528000	0.04320	GAA		0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
OR11H1	81061	mdanderson.org	37	22	16449605	16449605	+	Missense_Mutation	SNP	T	T	C			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:16449605T>C	ENST00000252835.4	-	1	200	c.200A>G	c.(199-201)gAc>gGc	p.D67G		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	67						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		AAGTCGCCGGTCACACCACAG	0.433																																						.											0																																										SO:0001583	missense	81061			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.200A>G	22.37:g.16449605T>C	ENSP00000252835:p.Asp67Gly		Q6IEX0|Q96R32	Missense_Mutation	SNP	ENST00000252835.4	37	CCDS33594.1	.	.	.	.	.	.	.	.	.	.	t	3.067	-0.192032	0.06299	.	.	ENSG00000130538	ENST00000252835	T	0.02890	4.12	2.19	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	0.155040	0.28653	N	0.014586	T	0.07413	0.0187	M	0.92833	3.35	0.09310	N	1	B	0.28584	0.216	B	0.32342	0.144	T	0.13469	-1.0508	10	0.87932	D	0	.	6.1983	0.20561	0.0:0.1525:0.0:0.8475	.	67	Q8NG94	O11H1_HUMAN	G	67	ENSP00000252835:D67G	ENSP00000252835:D67G	D	-	2	0	OR11H1	14829605	0.001000	0.12720	0.588000	0.28705	0.057000	0.15508	0.807000	0.27140	0.043000	0.15746	-1.786000	0.00637	GAC		0.433	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074923.2	NM_001005239	
OR1S2	219958	mdanderson.org	37	11	57970967	57970967	+	Silent	SNP	G	G	A	rs138762515		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:57970967G>A	ENST00000302592.6	-	1	686	c.687C>T	c.(685-687)ttC>ttT	p.F229F		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F229F(1)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AGACATAGGAGAAGAAGATGA	0.438																																						.											1	Substitution - coding silent(1)	kidney(1)											154.0	129.0	138.0					11																	57970967		2201	4296	6497	SO:0001819	synonymous_variant	219958			BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.687C>T	11.37:g.57970967G>A			Q6IFG5|Q96R85	Silent	SNP	ENST00000302592.6	37	CCDS31545.1																																																																																				0.438	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459	
OR8B2	26595	mdanderson.org	37	11	124252982	124252982	+	Silent	SNP	C	C	T	rs71491825		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:124252982C>T	ENST00000375013.2	-	1	276	c.258G>A	c.(256-258)gtG>gtA	p.V86V		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCTTTTTTGACACAAAGTTCA	0.383													c|||	1	0.000199681	0.0	0.0	5008	,	,		23366	0.0		0.001	False		,,,				2504	0.0					.											0													138.0	133.0	135.0					11																	124252982		2201	4299	6500	SO:0001819	synonymous_variant	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.258G>A	11.37:g.124252982C>T			Q8NGH2	Silent	SNP	ENST00000375013.2	37	CCDS31708.1																																																																																				0.383	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468	
OTOP1	133060	mdanderson.org	37	4	4190576	4190577	+	Missense_Mutation	DNP	CG	CG	GC	rs200368405|rs199742451		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:4190576_4190577CG>GC	ENST00000296358.4	-	6	1816_1817	c.1792_1793CG>GC	c.(1792-1794)CGa>GCa	p.R598A		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	598					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCGTGCATTCGATAGAAAATA	0.46																																						.											0																																										SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1792_1793delinsGC	4.37:g.4190576_4190577delinsGC	ENSP00000296358:p.Arg598Ala		A1L476	Missense_Mutation	DNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.460	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
PABPC1	26986	mdanderson.org	37	8	101719138	101719138	+	Missense_Mutation	SNP	C	C	T	rs79940439		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:101719138C>T	ENST00000318607.5	-	10	2552	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	PABPC1_ENST00000522387.1_Missense_Mutation_p.R443Q|PABPC1_ENST00000519004.1_Missense_Mutation_p.R430Q|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	475					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TGACATGACTCGTGGAACCTG	0.398																																						.											0													79.0	75.0	76.0					8																	101719138		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1424G>A	8.37:g.101719138C>T	ENSP00000313007:p.Arg475Gln		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.8|25.8	4.676811|4.676811	0.88445|0.88445	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000520868;ENST00000517403|ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658	.|T;T;T;T	.|0.45276	.|1.71;1.67;2.73;0.9	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	.|0.128720	.|0.35378	.|N	.|0.003252	T|T	0.33904|0.33904	0.0879|0.0879	L|L	0.28504|0.28504	0.86|0.86	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.18968	.|0.032;0.001;0.001	.|B;B;B	.|0.09377	.|0.004;0.001;0.0	T|T	0.10474|0.10474	-1.0628|-1.0628	5|10	.|0.15952	.|T	.|0.53	.|.	20.0338|20.0338	0.97549|0.97549	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|443;475;475	.|E7ERJ7;B3KT93;P11940	.|.;.;PABP1_HUMAN	K|Q	8;128|475;430;443;22	.|ENSP00000313007:R475Q;ENSP00000429594:R430Q;ENSP00000429395:R443Q;ENSP00000428840:R22Q	.|ENSP00000313007:R475Q	E|R	-|-	1|2	0|0	PABPC1|PABPC1	101788314|101788314	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.212000|7.212000	0.77941|0.77941	2.816000|2.816000	0.96949|0.96949	0.650000|0.650000	0.86243|0.86243	GAG|CGA		0.398	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	
PABPC1	26986	mdanderson.org	37	8	101719201	101719201	+	Missense_Mutation	SNP	A	A	G	rs72681439		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr8:101719201A>G	ENST00000318607.5	-	10	2489	c.1361T>C	c.(1360-1362)aTc>aCc	p.I454T	PABPC1_ENST00000522387.1_Missense_Mutation_p.I422T|PABPC1_ENST00000519004.1_Missense_Mutation_p.I409T|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	454					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AGCTGGGCGGATAGCACCGGG	0.433																																						.											0													72.0	69.0	70.0					8																	101719201		2203	4300	6503	SO:0001583	missense	26986			Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1361T>C	8.37:g.101719201A>G	ENSP00000313007:p.Ile454Thr		Q15097|Q93004	Missense_Mutation	SNP	ENST00000318607.5	37	CCDS6289.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.57|17.57	3.422927|3.422927	0.62733|0.62733	.|.	.|.	ENSG00000070756|ENSG00000070756	ENST00000318607;ENST00000519004;ENST00000522387;ENST00000522658|ENST00000517403	T;T;T;T|.	0.50548|.	1.64;1.55;2.61;0.74|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.63558|0.63558	0.2521|0.2521	L|L	0.47016|0.47016	1.485|1.485	0.46654|0.46654	D|D	0.999149|0.999149	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.09377|.	0.001;0.004;0.002|.	T|T	0.60424|0.60424	-0.7266|-0.7266	9|5	.|.	.|.	.|.	.|.	16.1251|16.1251	0.81386|0.81386	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	422;454;454|.	E7ERJ7;B3KT93;P11940|.	.;.;PABP1_HUMAN|.	T|P	454;409;422;1|107	ENSP00000313007:I454T;ENSP00000429594:I409T;ENSP00000429395:I422T;ENSP00000428840:I1T|.	.|.	I|S	-|-	2|1	0|0	PABPC1|PABPC1	101788377|101788377	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.628000|8.628000	0.90979|0.90979	2.272000|2.272000	0.75746|0.75746	0.528000|0.528000	0.53228|0.53228	ATC|TCC		0.433	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	NM_002568	
PABPC3	5042	mdanderson.org	37	13	25670868	25670868	+	Missense_Mutation	SNP	G	G	A	rs200859889	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:25670868G>A	ENST00000281589.3	+	1	569	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	178					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTCTCGTAAAGAACGAGAAGC	0.403													g|||	262	0.0523163	0.0756	0.0591	5008	,	,		22159	0.0298		0.0308	False		,,,				2504	0.0613					.											0													104.0	98.0	100.0					13																	25670868		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.532G>A	13.37:g.25670868G>A	ENSP00000281589:p.Glu178Lys		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906877	0.52333	.	.	ENSG00000151846	ENST00000281589	D	0.85861	-2.04	0.828	0.828	0.18841	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.47455	U	0.000224	T	0.76076	0.3937	L	0.60455	1.87	0.50632	D	0.999885	P	0.38455	0.632	B	0.28784	0.094	T	0.73858	-0.3850	10	0.66056	D	0.02	.	7.4633	0.27308	1.0E-4:0.0:0.9999:0.0	.	178	Q9H361	PABP3_HUMAN	K	178	ENSP00000281589:E178K	ENSP00000281589:E178K	E	+	1	0	PABPC3	24568868	1.000000	0.71417	0.959000	0.39883	0.390000	0.30446	6.438000	0.73426	0.748000	0.32831	0.305000	0.20034	GAA		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PABPC3	5042	mdanderson.org	37	13	25670877	25670877	+	Missense_Mutation	SNP	G	G	A	rs112107735	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:25670877G>A	ENST00000281589.3	+	1	578	c.541G>A	c.(541-543)Gct>Act	p.A181T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	181					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGAACGAGAAGCTGAACTTGG	0.403													g|||	36	0.0071885	0.0151	0.0043	5008	,	,		22319	0.002		0.003	False		,,,				2504	0.0082					.											0													101.0	95.0	97.0					13																	25670877		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.541G>A	13.37:g.25670877G>A	ENSP00000281589:p.Ala181Thr		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133453	0.56828	.	.	ENSG00000151846	ENST00000281589	D	0.85629	-2.01	0.828	0.828	0.18841	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.46758	U	0.000272	T	0.80341	0.4605	M	0.69463	2.115	0.43275	D	0.995232	P	0.38335	0.627	B	0.37550	0.253	T	0.76849	-0.2807	10	0.51188	T	0.08	.	7.4633	0.27308	1.0E-4:0.0:0.9999:0.0	.	181	Q9H361	PABP3_HUMAN	T	181	ENSP00000281589:A181T	ENSP00000281589:A181T	A	+	1	0	PABPC3	24568877	1.000000	0.71417	0.873000	0.34254	0.379000	0.30106	4.761000	0.62243	0.748000	0.32831	0.305000	0.20034	GCT		0.403	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PABPC3	5042	mdanderson.org	37	13	25671786	25671786	+	Missense_Mutation	SNP	G	G	A	rs113301206	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:25671786G>A	ENST00000281589.3	+	1	1487	c.1450G>A	c.(1450-1452)Gtg>Atg	p.V484M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	484					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AACACAGACAGTGGGTCCACG	0.537													g|||	617	0.123203	0.1876	0.1081	5008	,	,		22365	0.0655		0.0666	False		,,,				2504	0.1646					.											0													64.0	58.0	60.0					13																	25671786		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1450G>A	13.37:g.25671786G>A	ENSP00000281589:p.Val484Met		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	4.651	0.121106	0.08881	.	.	ENSG00000151846	ENST00000281589	T	0.26957	1.7	0.875	-0.771	0.11002	.	0.098881	0.40908	N	0.000987	T	0.04363	0.0120	N	0.00197	-1.87	0.23421	N	0.997711	B	0.02656	0.0	B	0.09377	0.004	T	0.38243	-0.9670	10	0.30854	T	0.27	.	4.3022	0.10930	0.7031:0.0:0.2969:0.0	.	484	Q9H361	PABP3_HUMAN	M	484	ENSP00000281589:V484M	ENSP00000281589:V484M	V	+	1	0	PABPC3	24569786	0.402000	0.25311	0.468000	0.27192	0.114000	0.19823	0.521000	0.22893	-0.307000	0.08804	0.313000	0.20887	GTG		0.537	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PAPD7	11044	mdanderson.org	37	5	6753008	6753008	+	Missense_Mutation	SNP	C	C	T	rs374089909		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:6753008C>T	ENST00000230859.6	+	12	1421	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	661	PAP-associated.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATACCTCCACCGACCCTAGGG	0.527																																					NSCLC(7;212 333 5667 23379 46547)	.											0													99.0	93.0	95.0					5																	6753008		2203	4300	6503	SO:0001583	missense	11044			AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1292C>T	5.37:g.6753008C>T	ENSP00000230859:p.Pro431Leu		A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.733383	0.48939	.	.	ENSG00000112941	ENST00000230859	T	0.29142	1.58	5.35	5.35	0.76521	.	0.402161	0.28589	N	0.014820	T	0.26122	0.0637	L	0.47716	1.5	0.41628	D	0.989006	B;B	0.22146	0.065;0.065	B;B	0.06405	0.002;0.002	T	0.04400	-1.0954	10	0.27785	T	0.31	-12.8162	11.6914	0.51519	0.1764:0.8236:0.0:0.0	.	431;431	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	L	431	ENSP00000230859:P431L	ENSP00000230859:P431L	P	+	2	0	PAPD7	6806008	0.164000	0.22935	0.594000	0.28785	0.998000	0.95712	1.669000	0.37492	2.510000	0.84645	0.655000	0.94253	CCG		0.527	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999	
PCDHB10	56126	mdanderson.org	37	5	140573473	140573473	+	Missense_Mutation	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr5:140573473G>A	ENST00000239446.4	+	1	1532	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGCCCCCGCCTTCACCCA	0.592																																						.											0													54.0	55.0	55.0					5																	140573473		2203	4291	6494	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1348G>A	5.37:g.140573473G>A	ENSP00000239446:p.Ala450Thr		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	3.869	-0.028342	0.07589	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.22	-0.906	0.10524	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.01320	0.0043	N	0.20845	0.615	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.48514	-0.9029	9	0.18710	T	0.47	.	7.9509	0.30014	0.4614:0.0:0.5386:0.0	.	450	Q9UN67	PCDBA_HUMAN	T	450	ENSP00000239446:A450T	ENSP00000239446:A450T	A	+	1	0	PCDHB10	140553657	0.000000	0.05858	0.767000	0.31495	0.527000	0.34593	-0.266000	0.08631	-0.351000	0.08249	-0.274000	0.10170	GCC		0.592	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PSPH	5723	mdanderson.org	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						.											1	Substitution - Missense(1)	lung(1)											87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile		B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	
SGIP1	84251	mdanderson.org;bcgsc.ca	37	1	67154849	67154849	+	Missense_Mutation	SNP	G	G	A	rs542858072	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr1:67154849G>A	ENST00000371037.4	+	16	1411	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	SGIP1_ENST00000371036.3_Missense_Mutation_p.R245Q|SGIP1_ENST00000237247.6_Missense_Mutation_p.R476Q|SGIP1_ENST00000371039.1_Missense_Mutation_p.R246Q|SGIP1_ENST00000371035.3_Missense_Mutation_p.R235Q	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	445	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						TCCCCTGCTCGACCAGCCACT	0.542																																						.											0													212.0	215.0	214.0					1																	67154849		2203	4300	6503	SO:0001583	missense	84251			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.1334G>A	1.37:g.67154849G>A	ENSP00000360076:p.Arg445Gln		A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	ENST00000371037.4	37	CCDS30744.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727703	0.89390	.	.	ENSG00000118473	ENST00000237247;ENST00000371039;ENST00000371035;ENST00000371038;ENST00000407289;ENST00000371036;ENST00000371037	T;T;T;T;T	0.03272	3.99;3.99;3.99;3.99;3.99	6.17	6.17	0.99709	.	0.125931	0.56097	D	0.000029	T	0.11707	0.0285	M	0.70275	2.135	0.54753	D	0.999989	D;D;D;D	0.76494	0.999;0.994;0.994;0.999	D;D;D;D	0.72625	0.978;0.921;0.921;0.978	T	0.05937	-1.0855	10	0.30078	T	0.28	-10.234	19.6509	0.95805	0.0:0.0:1.0:0.0	.	475;45;235;445	A6NEV3;B3KR01;B7Z5H8;Q9BQI5	.;.;.;SGIP1_HUMAN	Q	476;246;235;475;448;245;445	ENSP00000237247:R476Q;ENSP00000360078:R246Q;ENSP00000360074:R235Q;ENSP00000360075:R245Q;ENSP00000360076:R445Q	ENSP00000237247:R476Q	R	+	2	0	SGIP1	66927437	1.000000	0.71417	1.000000	0.80357	0.353000	0.29299	8.648000	0.91062	2.941000	0.99782	0.655000	0.94253	CGA		0.542	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000025395.4	NM_032291	
STRADB	55437	mdanderson.org	37	2	202344886	202344886	+	Silent	SNP	C	C	T	rs146098224		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr2:202344886C>T	ENST00000194530.3	+	12	1610	c.1245C>T	c.(1243-1245)taC>taT	p.Y415Y	STRADB_ENST00000392249.2_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	415					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AAGACTCATACTGGGAATTCT	0.393																																						.											0													134.0	136.0	135.0					2																	202344886		2203	4300	6503	SO:0001819	synonymous_variant	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.1245C>T	2.37:g.202344886C>T			Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1																																																																																				0.393	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571	
TAS2R30	259293	mdanderson.org	37	12	11286164	11286164	+	Missense_Mutation	SNP	G	G	A	rs200661425		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:11286164G>A	ENST00000539585.1	-	1	1079	c.680C>T	c.(679-681)gCt>gTt	p.A227V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1	P59541	T2R30_HUMAN	taste receptor, type 2, member 30	227					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.A227V(2)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AGTTTGCAAAGCTTTTATGTG	0.418																																						.											2	Substitution - Missense(2)	autonomic_ganglia(1)|skin(1)											198.0	208.0	205.0					12																	11286164		2203	4300	6503	SO:0001583	missense	259293			AX097746, AF494233	CCDS53750.1	12p13.2	2012-08-22				ENSG00000256188		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19112	protein-coding gene	gene with protein product		613963	"""taste receptor, type 2, member 47"""	TAS2R47			Standard	NM_001097643		Approved	T2R30	uc009zhs.1	P59541		ENST00000539585.1:c.680C>T	12.37:g.11286164G>A	ENSP00000444736:p.Ala227Val		Q645X7	Missense_Mutation	SNP	ENST00000539585.1	37	CCDS53750.1	.	.	.	.	.	.	.	.	.	.	-	13.13	2.144355	0.37825	.	.	ENSG00000256188	ENST00000539585	T	0.01422	4.91	2.6	2.6	0.31112	.	.	.	.	.	T	0.03651	0.0104	M	0.70595	2.14	0.09310	N	1	P	0.40250	0.709	P	0.46975	0.533	T	0.27938	-1.0059	9	0.46703	T	0.11	.	8.7017	0.34329	0.0:0.0:1.0:0.0	.	227	P59541	T2R30_HUMAN	V	227	ENSP00000444736:A227V	ENSP00000444736:A227V	A	-	2	0	TAS2R30	11177431	0.677000	0.27577	0.024000	0.17045	0.426000	0.31534	2.697000	0.47060	1.454000	0.47793	0.313000	0.20887	GCT		0.418	TAS2R30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400238.1	NM_001097643	
TRIM50	135892	mdanderson.org	37	7	72734197	72734197	+	Silent	SNP	T	T	C	rs3108461		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:72734197T>C	ENST00000333149.2	-	3	644	c.444A>G	c.(442-444)aaA>aaG	p.K148K	TRIM50_ENST00000453152.1_Silent_p.K148K|TRIM50_ENST00000493498.1_5'Flank	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	148						cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CATCCACCTTTTTCTGCTCCT	0.612																																						.											0																																										SO:0001819	synonymous_variant	135892			AY081948	CCDS34654.1	7q11.23	2013-01-09	2011-01-25	2006-03-31	ENSG00000146755	ENSG00000146755		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19017	protein-coding gene	gene with protein product		612548	"""tripartite motif-containing 50A"", ""tripartite motif-containing 50"""	TRIM50A			Standard	NM_001281450		Approved	FLJ32804	uc003txy.1	Q86XT4	OTTHUMG00000156805	ENST00000333149.2:c.444A>G	7.37:g.72734197T>C			Q86XT3	Silent	SNP	ENST00000333149.2	37	CCDS34654.1																																																																																				0.612	TRIM50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345925.1	NM_178125	
TRIOBP	11078	mdanderson.org	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						.											6	Substitution - coding silent(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)																																								SO:0001819	synonymous_variant	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T			B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TTC29	83894	mdanderson.org;bcgsc.ca	37	4	147795877	147795877	+	Missense_Mutation	SNP	C	C	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:147795877C>T	ENST00000325106.4	-	7	1016	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	TTC29_ENST00000398886.4_Missense_Mutation_p.A290T|TTC29_ENST00000513335.1_Missense_Mutation_p.A290T	NM_031956.2	NP_114162.2	Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	264										breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CCTTCTTTGGCTATTTCAGAA	0.378																																						.											0													87.0	76.0	79.0					4																	147795877		1811	4081	5892	SO:0001583	missense	83894			AF345910	CCDS47141.1, CCDS75200.1	4q31.23	2013-01-11				ENSG00000137473		"""Tetratricopeptide (TTC) repeat domain containing"""	29936	protein-coding gene	gene with protein product						12477932	Standard	NM_031956		Approved	NYD-SP14	uc003ikw.4	Q8NA56		ENST00000325106.4:c.790G>A	4.37:g.147795877C>T	ENSP00000316740:p.Ala264Thr		A4GU95|Q9BXB6	Missense_Mutation	SNP	ENST00000325106.4	37	CCDS47141.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998966	0.74818	.	.	ENSG00000137473	ENST00000513335;ENST00000398886;ENST00000325106;ENST00000398883;ENST00000504425	T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05	5.91	5.07	0.68467	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.88362	0.6416	M	0.84326	2.69	0.44373	D	0.997274	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	D	0.88848	0.3317	10	0.45353	T	0.12	-6.6357	15.049	0.71850	0.0:0.9324:0.0:0.0676	.	264;290;264	E7EQ14;G5E9Z5;Q8NA56	.;.;TTC29_HUMAN	T	290;290;264;264;264	ENSP00000423505:A290T;ENSP00000381861:A290T;ENSP00000316740:A264T;ENSP00000425778:A264T	ENSP00000316740:A264T	A	-	1	0	TTC29	148015327	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.085000	0.57657	1.509000	0.48786	-0.136000	0.14681	GCC		0.378	TTC29-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_031956	
UBC	7316	mdanderson.org	37	12	125397187	125397187	+	Silent	SNP	G	G	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:125397187G>A	ENST00000536769.1	-	1	2707	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	UBC_ENST00000339647.5_Silent_p.L377L|UBC_ENST00000538617.1_Intron|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.L301L			P0CG48	UBC_HUMAN	ubiquitin C	377	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCCCACCTCTGAGACGGAGCA	0.522																																						.											0													226.0	213.0	217.0					12																	125397187		2203	4300	6503	SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1131C>T	12.37:g.125397187G>A			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	CCDS9260.1																																																																																				0.522	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009	
UBC	7316	mdanderson.org	37	12	125397895	125397895	+	Silent	SNP	A	A	G	rs199930220	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr12:125397895A>G	ENST00000538617.1	-	3	739	c.423T>C	c.(421-423)tcT>tcC	p.S141S	UBC_ENST00000339647.5_Silent_p.S141S|UBC_ENST00000536769.1_Silent_p.S141S|UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	521	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGCAGGGTAGACTCTTTCT	0.557													-|||	173	0.0345447	0.0439	0.013	5008	,	,		27341	0.002		0.0298	False		,,,				2504	0.0757					.											0													96.0	92.0	93.0					12																	125397895		2203	4290	6493	SO:0001819	synonymous_variant	7316				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.423T>C	12.37:g.125397895A>G			P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000538617.1	37																																																																																					0.557	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000400179.1	NM_021009	
UBE3C	9690	mdanderson.org	37	7	157041098	157041099	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:157041098_157041099GC>TT	ENST00000348165.5	+	19	2878_2879	c.2518_2519GC>TT	c.(2518-2520)GCa>TTa	p.A840L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	840	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCTGCCCTTTGCAGGCTTCTTT	0.475																																						.											0																																										SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	Exception_encountered	7.37:g.157041098_157041099delinsTT	ENSP00000309198:p.Ala840Leu		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	DNP	ENST00000348165.5	37	CCDS34789.1																																																																																				0.475	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
ZNF285	26974	mdanderson.org	37	19	44891043	44891043	+	Missense_Mutation	SNP	G	G	T	rs77661661		TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:44891043G>T	ENST00000330997.4	-	4	1428	c.1364C>A	c.(1363-1365)cCa>cAa	p.P455Q	ZNF285_ENST00000544719.2_Missense_Mutation_p.P455Q|ZNF285_ENST00000591679.1_Missense_Mutation_p.P462Q|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P455Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GCATTTGTATGGTTTCTCCCC	0.448																																						.											1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	26974			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1364C>A	19.37:g.44891043G>T	ENSP00000333595:p.Pro455Gln		Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.224441	0.58668	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.17213	2.29	3.36	3.36	0.38483	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41834	0.1176	M	0.75447	2.3	0.30665	N	0.754012	D;B	0.89917	1.0;0.012	D;B	0.83275	0.996;0.04	T	0.45323	-0.9269	9	0.62326	D	0.03	.	13.918	0.63914	0.0:0.0:1.0:0.0	.	479;455	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	Q	478;455	ENSP00000333595:P455Q	ENSP00000333595:P455Q	P	-	2	0	ZNF285	49582883	1.000000	0.71417	0.862000	0.33874	0.982000	0.71751	5.120000	0.64685	1.598000	0.50083	0.298000	0.19748	CCA		0.448	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443600.1	NM_152354	
ZNF626	199777	mdanderson.org	37	19	20807270	20807270	+	Silent	SNP	A	A	G	rs547337333	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:20807270A>G	ENST00000601440.1	-	4	1559	c.1413T>C	c.(1411-1413)caT>caC	p.H471H	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	471					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GAATTTTCTTATGTGTAGTAA	0.388													a|||	3193	0.63758	0.3517	0.7767	5008	,	,		9279	0.7411		0.8082	False		,,,				2504	0.6431					.											0													37.0	18.0	24.0					19																	20807270		1869	3648	5517	SO:0001819	synonymous_variant	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1413T>C	19.37:g.20807270A>G			Q8N8T4|Q96QM1	Silent	SNP	ENST00000601440.1	37	CCDS42535.1																																																																																				0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297	
ZNF468	90333	mdanderson.org	37	19	53352380	53352380	+	Silent	SNP	C	C	T	rs568961044	byFrequency	TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr19:53352380C>T	ENST00000595646.1	-	3	222	c.102G>A	c.(100-102)agG>agA	p.R34R	ZNF468_ENST00000243639.4_Silent_p.R34R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_5'UTR|ZNF468_ENST00000396409.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	34	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GCATCACGTCCCTGTATAAAG	0.473													-|||	6	0.00119808	0.0008	0.0	5008	,	,		18410	0.001		0.004	False		,,,				2504	0.0					.											0													147.0	149.0	148.0					19																	53352380		2203	4300	6503	SO:0001819	synonymous_variant	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.102G>A	19.37:g.53352380C>T			A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	CCDS33094.1																																																																																				0.473	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1	NM_001008801	
RB1	5925	bcgsc.ca	37	13	49039351	49039360	+	Frame_Shift_Del	DEL	TTGTCACCAA	TTGTCACCAA	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	TTGTCACCAA	TTGTCACCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr13:49039351_49039360delTTGTCACCAA	ENST00000267163.4	+	23	2474_2483	c.2336_2345delTTGTCACCAA	c.(2335-2346)tttgtcaccaaafs	p.FVTK779fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CCCCCTACCTTGTCACCAATACCTCACATT	0.381		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	26	Whole gene deletion(15)|Unknown(11)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)																																								SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2336_2345delTTGTCACCAA	13.37:g.49039351_49039360delTTGTCACCAA	ENSP00000267163:p.Phe779fs		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	CCDS31973.1																																																																																				0.381	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
KDELR3	11015	bcgsc.ca	37	22	38877305	38877305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr22:38877305delA	ENST00000216014.4	+	4	612	c.440delA	c.(439-441)aaafs	p.K147fs	KDELR3_ENST00000409006.3_Frame_Shift_Del_p.K147fs|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	147					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein retention in ER lumen (GO:0006621)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ER retention sequence binding (GO:0046923)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					GCTGAGACCATAACTACTCAC	0.488																																					Ovarian(11;103 529 24120 28493 32980)	.											0													152.0	145.0	147.0					22																	38877305		2203	4300	6503	SO:0001589	frameshift_variant	11015			AL035081	CCDS13972.1, CCDS46705.1	22q13	2008-05-02			ENSG00000100196	ENSG00000100196			6306	protein-coding gene	gene with protein product							Standard	NM_006855		Approved		uc003avu.3	O43731	OTTHUMG00000153520	ENST00000216014.4:c.440delA	22.37:g.38877305delA	ENSP00000216014:p.Lys147fs		A8K7T7|B8ZZ26|O95557|Q4V750|Q4V767|Q53FP4|Q53GK1	Frame_Shift_Del	DEL	ENST00000216014.4	37	CCDS13972.1																																																																																				0.488	KDELR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331474.1		
TMEM175	84286	bcgsc.ca	37	4	951677	951677	+	Missense_Mutation	SNP	T	T	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr4:951677T>A	ENST00000264771.4	+	11	1093	c.908T>A	c.(907-909)cTg>cAg	p.L303Q	TMEM175_ENST00000515740.1_Missense_Mutation_p.L187Q|TMEM175_ENST00000508204.1_Missense_Mutation_p.L221Q	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	303						integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GTGGCCGCCCTGAGTGCGACC	0.622																																						.											0													49.0	53.0	52.0					4																	951677		2203	4300	6503	SO:0001583	missense	84286			BC005158	CCDS3341.1, CCDS75087.1, CCDS75088.1	4p16.3	2008-02-05			ENSG00000127419	ENSG00000127419			28709	protein-coding gene	gene with protein product						12477932	Standard	XM_005272301		Approved	MGC4618	uc003gbq.3	Q9BSA9	OTTHUMG00000118996	ENST00000264771.4:c.908T>A	4.37:g.951677T>A	ENSP00000264771:p.Leu303Gln		D3DVN4|Q8ND13	Missense_Mutation	SNP	ENST00000264771.4	37	CCDS3341.1	.	.	.	.	.	.	.	.	.	.	T	14.61	2.587414	0.46110	.	.	ENSG00000127419	ENST00000264771;ENST00000515740;ENST00000508204;ENST00000510493	T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02	4.82	4.82	0.62117	.	0.087962	0.47455	D	0.000234	D	0.82724	0.5099	H	0.95574	3.69	0.49483	D	0.999792	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85480	0.1178	10	0.87932	D	0	-18.6448	7.9391	0.29948	0.1832:0.0:0.0:0.8168	.	221;303	D3DVN5;Q9BSA9	.;TM175_HUMAN	Q	303;187;221;221	ENSP00000264771:L303Q;ENSP00000427039:L187Q;ENSP00000423669:L221Q;ENSP00000424208:L221Q	ENSP00000264771:L303Q	L	+	2	0	TMEM175	941677	1.000000	0.71417	0.942000	0.38095	0.010000	0.07245	5.515000	0.67049	1.804000	0.52760	0.402000	0.26972	CTG		0.622	TMEM175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239193.2	NM_032326	
OR2B2	81697	bcgsc.ca	37	6	27879484	27879484	+	Missense_Mutation	SNP	A	A	G			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr6:27879484A>G	ENST00000303324.2	-	1	690	c.614T>C	c.(613-615)cTa>cCa	p.L205P		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TAGAAGGAATAGCACACTGAT	0.428																																						.											0													119.0	109.0	112.0					6																	27879484		2203	4300	6503	SO:0001583	missense	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.614T>C	6.37:g.27879484A>G	ENSP00000304419:p.Leu205Pro		B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	ENST00000303324.2	37	CCDS4641.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.260357	0.23051	.	.	ENSG00000168131	ENST00000303324	T	0.44881	0.91	4.32	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.255751	0.19627	N	0.109774	T	0.38026	0.1025	L	0.55017	1.72	0.25548	N	0.987118	D	0.69078	0.997	D	0.68483	0.958	T	0.15492	-1.0435	10	0.62326	D	0.03	.	6.1028	0.20057	0.7868:0.0:0.2132:0.0	.	205	Q9GZK3	OR2B2_HUMAN	P	205	ENSP00000304419:L205P	ENSP00000304419:L205P	L	-	2	0	OR2B2	27987463	0.015000	0.18098	0.674000	0.29902	0.056000	0.15407	2.805000	0.47939	0.757000	0.33036	0.460000	0.39030	CTA		0.428	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040163.1		
UBE3C	9690	bcgsc.ca	37	7	157041098	157041098	+	Missense_Mutation	SNP	G	G	T			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr7:157041098G>T	ENST00000348165.5	+	19	2878	c.2518G>T	c.(2518-2520)Gca>Tca	p.A840S		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	840	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCTGCCCTTTGCAGGCTTCTT	0.473																																						.											0													93.0	95.0	94.0					7																	157041098		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2518G>T	7.37:g.157041098G>T	ENSP00000309198:p.Ala840Ser		A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.340747	0.60963	.	.	ENSG00000009335	ENST00000348165	T	0.54866	0.55	5.74	5.74	0.90152	HECT (4);	0.095457	0.64402	D	0.000001	T	0.62600	0.2441	L	0.48362	1.52	0.80722	D	1	P;P	0.42941	0.794;0.794	P;P	0.51999	0.687;0.687	T	0.59225	-0.7494	10	0.46703	T	0.11	.	19.9122	0.97029	0.0:0.0:1.0:0.0	.	840;693	Q15386;B4DHJ9	UBE3C_HUMAN;.	S	840	ENSP00000309198:A840S	ENSP00000309198:A840S	A	+	1	0	UBE3C	156733859	1.000000	0.71417	0.672000	0.29872	0.179000	0.23085	9.502000	0.97981	2.702000	0.92279	0.655000	0.94253	GCA		0.473	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
C11orf80	79703	bcgsc.ca	37	11	66555696	66555697	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr11:66555696_66555697insA	ENST00000360962.4	+	5	596_597	c.589_590insA	c.(589-591)tctfs	p.S197fs	C11orf80_ENST00000540737.1_Frame_Shift_Ins_p.S31fs|C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000346672.4_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000525449.2_Frame_Shift_Ins_p.S42fs|C11orf80_ENST00000532565.2_5'UTR	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	197										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						AGGCAGCTATTCTCAGGATATG	0.396																																						.											0																																										SO:0001589	frameshift_variant	79703					11q13.2	2012-05-30			ENSG00000173715	ENSG00000173715			26197	protein-coding gene	gene with protein product						18160775	Standard	NM_024650		Approved	FLJ22531	uc021qmd.1	Q8N6T0	OTTHUMG00000167164	Exception_encountered	11.37:g.66555696_66555697insA	ENSP00000354227:p.Ser197fs		Q9H677	Frame_Shift_Ins	INS	ENST00000360962.4	37	CCDS53664.1																																																																																				0.396	C11orf80-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_024650	
MLYCD	23417	bcgsc.ca	37	16	83941752	83941753	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KO-8404-01A-11D-2310-10	TCGA-KO-8404-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	af8dd8cc-ebaa-432c-bcd8-2d792de62be1	d957b0fd-8a5b-410b-b85b-0b8985321ab0	g.chr16:83941752_83941753insA	ENST00000262430.4	+	3	682_683	c.663_664insA	c.(664-666)aaafs	p.K222fs	RP11-505K9.4_ENST00000566309.1_5'Flank|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	222	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TGCATCCTGTAAAAAACTGGAT	0.5																																						.											0																																										SO:0001589	frameshift_variant	23417			AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.668dupA	16.37:g.83941757_83941757dupA	ENSP00000262430:p.Lys222fs		Q9UNU5|Q9Y3F2	Frame_Shift_Ins	INS	ENST00000262430.4	37	CCDS42206.1																																																																																				0.500	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213	
