#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACACB	32	hgsc.bcm.edu	37	12	109661640	109661640	+	Silent	SNP	A	A	G	rs376018180		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:109661640A>G	ENST00000338432.7	+	27	3932	c.3813A>G	c.(3811-3813)acA>acG	p.T1271T	ACACB_ENST00000377854.5_Silent_p.T1201T|ACACB_ENST00000377848.3_Silent_p.T1271T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1271					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TTTCGGAAACAACCATCTTCG	0.408																																																	0								A		1,4405	2.1+/-5.4	0,1,2202	265.0	279.0	275.0		3813	-4.9	0.9	12		275	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACACB	NM_001093.3		0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154		1271/2459	109661640	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3813A>G	12.37:g.109661640A>G		Somatic		WXS	SOLID	Phase_I	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	CCDS31898.1																																																																																				0.408	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093	
ADAMTS18	170692	hgsc.bcm.edu	37	16	77398222	77398222	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr16:77398222A>G	ENST00000282849.5	-	5	1253	c.835T>C	c.(835-837)Tct>Cct	p.S279P		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	279					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCGCCCAGAGCTCCCATAT	0.478																																																	0													77.0	74.0	75.0					16																	77398222		2198	4300	6498	SO:0001583	missense	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.835T>C	16.37:g.77398222A>G	ENSP00000282849:p.Ser279Pro	Somatic		WXS	SOLID	Phase_I	Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654188	0.29425	.	.	ENSG00000140873	ENST00000282849	T	0.61040	0.14	5.17	-7.98	0.01135	.	1.422770	0.04156	N	0.322235	T	0.34193	0.0889	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.10730	-1.0617	10	0.25751	T	0.34	.	0.8098	0.01091	0.3026:0.2688:0.1239:0.3046	.	279	Q8TE60	ATS18_HUMAN	P	279	ENSP00000282849:S279P	ENSP00000282849:S279P	S	-	1	0	ADAMTS18	75955723	0.001000	0.12720	0.413000	0.26509	0.984000	0.73092	0.100000	0.15231	-1.093000	0.03058	0.482000	0.46254	TCT		0.478	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			
AOX1	316	hgsc.bcm.edu	37	2	201515874	201515874	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr2:201515874A>T	ENST00000374700.2	+	26	3266	c.3025A>T	c.(3025-3027)Atg>Ttg	p.M1009L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1009					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)	AGGACTGGCCATGGTCCCCCT	0.502																																																	0													148.0	148.0	148.0					2																	201515874		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.3025A>T	2.37:g.201515874A>T	ENSP00000363832:p.Met1009Leu	Somatic		WXS	SOLID	Phase_I	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	A	8.877	0.950797	0.18431	.	.	ENSG00000138356	ENST00000374700	T	0.33438	1.41	5.65	-6.63	0.01807	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.623404	0.18202	N	0.148462	T	0.07143	0.0181	N	0.00569	-1.365	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.36625	-0.9740	10	0.36615	T	0.2	-2.1881	11.4821	0.50331	0.4036:0.0995:0.4969:0.0	.	1009	Q06278	ADO_HUMAN	L	1009	ENSP00000363832:M1009L	ENSP00000363832:M1009L	M	+	1	0	AOX1	201224119	0.143000	0.22626	0.012000	0.15200	0.334000	0.28698	0.492000	0.22435	-0.986000	0.03498	-0.912000	0.02778	ATG		0.502	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		NM_001159	
AP4B1	10717	hgsc.bcm.edu;ucsc.edu	37	1	114447239	114447239	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:114447239T>A	ENST00000369569.1	-	1	381	c.101A>T	c.(100-102)cAg>cTg	p.Q34L	DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369567.1_Missense_Mutation_p.Q34L|AP4B1_ENST00000369566.3_Missense_Mutation_p.Q34L|AP4B1_ENST00000256658.4_Missense_Mutation_p.Q34L	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	34					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATCACTCGCTGGATGACATT	0.542																																																	0													344.0	307.0	320.0					1																	114447239		2203	4300	6503	SO:0001583	missense	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.101A>T	1.37:g.114447239T>A	ENSP00000358582:p.Gln34Leu	Somatic		WXS	SOLID	Phase_I	B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	CCDS865.1	.	.	.	.	.	.	.	.	.	.	T	9.846	1.192321	0.21954	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.26067	1.76;1.77;1.77;1.77;2.66;1.76;1.77	5.28	5.28	0.74379	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.149391	0.53938	D	0.000047	T	0.07369	0.0186	N	0.17278	0.47	0.25276	N	0.989475	B;B;B	0.09022	0.0;0.001;0.002	B;B;B	0.12156	0.001;0.005;0.007	T	0.14811	-1.0459	10	0.87932	D	0	-14.4852	11.2134	0.48813	0.1373:0.0:0.0:0.8627	.	34;34;34	B7Z4X3;B1ALD0;Q9Y6B7	.;.;AP4B1_HUMAN	L	34	ENSP00000358580:Q34L;ENSP00000358582:Q34L;ENSP00000256658:Q34L;ENSP00000358579:Q34L;ENSP00000358577:Q34L;ENSP00000393622:Q34L;ENSP00000358584:Q34L	ENSP00000256658:Q34L	Q	-	2	0	AP4B1	114248762	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.645000	0.46621	2.123000	0.65237	0.459000	0.35465	CAG		0.542	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1		NM_006594	
MPC1	51660	hgsc.bcm.edu	37	6	166780320	166780320	+	Silent	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:166780320T>C	ENST00000360961.6	-	3	256	c.135A>G	c.(133-135)aaA>aaG	p.K45K	MPC1_ENST00000487218.1_5'UTR|MPC1_ENST00000341756.6_Silent_p.K45K	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1	45					cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)										CTGGAGACTTTTTCATATCAT	0.428																																																	0													127.0	135.0	133.0					6																	166780320		2203	4300	6503	SO:0001819	synonymous_variant	0			AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.135A>G	6.37:g.166780320T>C		Somatic		WXS	SOLID	Phase_I	B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Silent	SNP	ENST00000360961.6	37	CCDS5293.1																																																																																				0.428	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043052.1		NM_016098	
BZRAP1	9256	hgsc.bcm.edu	37	17	56386194	56386194	+	Missense_Mutation	SNP	C	C	T	rs142495996	byFrequency	TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:56386194C>T	ENST00000343736.4	-	22	4602	c.4439G>A	c.(4438-4440)cGg>cAg	p.R1480Q	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1420Q|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1480Q			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1480						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.R1480Q(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCCAGCGCCCGGCCACGGGA	0.677													C|||	7	0.00139776	0.0	0.0014	5008	,	,		15045	0.0		0.005	False		,,,				2504	0.001																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						C	GLN/ARG,GLN/ARG	3,4321		0,3,2159	16.0	21.0	19.0		4439,4259	-9.4	0.0	17	dbSNP_134	19	25,8469		0,25,4222	yes	missense,missense	BZRAP1	NM_004758.2,NM_024418.1	43,43	0,28,6381	TT,TC,CC		0.2943,0.0694,0.2184	benign,benign	1480/1858,1420/1798	56386194	28,12790	2162	4247	6409	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4439G>A	17.37:g.56386194C>T	ENSP00000345824:p.Arg1480Gln	Somatic		WXS	SOLID	Phase_I	O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	8.660	0.900234	0.17686	6.94E-4	0.002943	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04406	3.63;3.63;3.64	5.17	-9.35	0.00633	.	1.446790	0.03765	N	0.258884	T	0.01940	0.0061	N	0.24115	0.695	0.09310	N	1	B;P;P	0.47677	0.001;0.66;0.899	B;B;B	0.32090	0.001;0.14;0.13	T	0.51679	-0.8675	10	0.13470	T	0.59	.	5.5388	0.17026	0.0844:0.242:0.4688:0.2048	.	1480;1420;1480	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Q	1480;1480;1420	ENSP00000347929:R1480Q;ENSP00000345824:R1480Q;ENSP00000268893:R1420Q	ENSP00000268893:R1420Q	R	-	2	0	BZRAP1	53741193	0.000000	0.05858	0.001000	0.08648	0.171000	0.22731	-1.281000	0.02802	-0.847000	0.04168	-0.379000	0.06801	CGG		0.677	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1		NM_004758	
C11orf21	29125	hgsc.bcm.edu	37	11	2323037	2323037	+	Start_Codon_SNP	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr11:2323037A>T	ENST00000381153.3	-	1	253	c.2T>A	c.(1-3)aTg>aAg	p.M1K	TSPAN32_ENST00000381121.3_5'Flank|C11orf21_ENST00000470369.1_5'UTR|TSPAN32_ENST00000451520.2_5'Flank|TSPAN32_ENST00000182290.4_5'Flank			Q9P2W6	CK021_HUMAN	chromosome 11 open reading frame 21	1						cytoplasm (GO:0005737)											GGTCCTGCCCATGACTTTCCC	0.642											OREG0003773	type=REGULATORY REGION|Gene=TSPAN32|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													78.0	88.0	85.0					11																	2323037		692	1591	2283	SO:0001582	initiator_codon_variant	29125			AB029488	CCDS44518.1	11p15.5	2012-08-09			ENSG00000110665	ENSG00000110665			13231	protein-coding gene	gene with protein product		611033				11054561	Standard	NM_001142946		Approved		uc009ydj.2	Q9P2W6	OTTHUMG00000009759	ENST00000381153.3:c.2T>A	11.37:g.2323037A>T	ENSP00000370545:p.Met1Lys	Somatic	602	WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000381153.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	1.680|1.680	-0.506644|-0.506644	0.04231|0.04231	.|.	.|.	ENSG00000110665|ENSG00000110665	ENST00000381153|ENST00000456145	.|.	.|.	.|.	0.735|0.735	-1.47|-1.47	0.08772|0.08772	.|.	.|.	.|.	.|.	.|.	T|T	0.22437|0.22437	0.0541|0.0541	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	P|D	0.38148|0.54397	0.62|0.966	B|P	0.28232|0.55667	0.087|0.781	T|T	0.15838|0.15838	-1.0423|-1.0423	7|7	0.87932|0.87932	D|D	0|0	.|.	.|.	.|.	.|.	.|.	1|19	Q9P2W6|E9PAM5	CK021_HUMAN|.	K|R	1|19	.|.	ENSP00000370545:M1K|ENSP00000406541:W19R	M|W	-|-	2|1	0|0	C11orf21|C11orf21	2279613|2279613	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	-0.631000|-0.631000	0.05496|0.05496	-0.574000|-0.574000	0.05990|0.05990	-0.836000|-0.836000	0.03065|0.03065	ATG|TGG		0.642	C11orf21-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000026908.2		NM_001142946	Missense_Mutation
C5	727	hgsc.bcm.edu	37	9	123742419	123742419	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr9:123742419T>G	ENST00000223642.1	-	28	3629	c.3600A>C	c.(3598-3600)aaA>aaC	p.K1200N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1200					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	GTGGGTGAGTTTTATCTCCCA	0.403																																																	0													132.0	126.0	128.0					9																	123742419		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.3600A>C	9.37:g.123742419T>G	ENSP00000223642:p.Lys1200Asn	Somatic		WXS	SOLID	Phase_I	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	9.572	1.121304	0.20877	.	.	ENSG00000106804	ENST00000223642	T	0.38077	1.16	5.13	3.98	0.46160	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	2.464690	0.01792	N	0.032343	T	0.32852	0.0843	L	0.43152	1.355	0.09310	N	1	B	0.21821	0.061	B	0.25614	0.062	T	0.21211	-1.0252	10	0.20046	T	0.44	.	4.5431	0.12067	0.0:0.1727:0.1664:0.6609	.	1200	P01031	CO5_HUMAN	N	1200	ENSP00000223642:K1200N	ENSP00000223642:K1200N	K	-	3	2	C5	122782240	0.002000	0.14202	0.163000	0.22734	0.990000	0.78478	1.273000	0.33121	0.792000	0.33850	0.533000	0.62120	AAA		0.403	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1		NM_001735	
CACNA1C	775	hgsc.bcm.edu	37	12	2719719	2719719	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:2719719G>T	ENST00000347598.4	+	29	3631	c.3631G>T	c.(3631-3633)Gaa>Taa	p.E1211*	CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.E1211*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.E1216*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.E1191*|CACNA1C_ENST00000399655.1_Nonsense_Mutation_p.E1191*	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1211					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACAGTGCGTGGAATACGCCCT	0.592																																																	0													84.0	91.0	88.0					12																	2719719		2105	4239	6344	SO:0001587	stop_gained	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3631G>T	12.37:g.2719719G>T	ENSP00000266376:p.Glu1211*	Somatic		WXS	SOLID	Phase_I	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Nonsense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	42	9.348866	0.99145	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	5.24	4.29	0.51040	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5999	0.76616	0.0:0.1378:0.8622:0.0	.	.	.	.	X	1216;1191;1191;1191;1191;1191;1191;1191;1191;1191;1211;1211;1191;1191;1191;1191;1191;1191;1191;1191;1191;1191;1191;1032	.	ENSP00000323129:E1032X	E	+	1	0	CACNA1C	2589980	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	5.544000	0.67231	2.610000	0.88304	0.655000	0.94253	GAA		0.592	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1		NM_000719	
PRIMPOL	201973	hgsc.bcm.edu;ucsc.edu	37	4	185599419	185599419	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:185599419A>G	ENST00000314970.6	+	8	1311	c.878A>G	c.(877-879)tAt>tGt	p.Y293C	PRIMPOL_ENST00000503752.1_Missense_Mutation_p.Y293C|PRIMPOL_ENST00000515774.1_Missense_Mutation_p.Y164C|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.Y293C	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	293					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										TTTCGGCTATATAAATCATCA	0.289																																																	0													34.0	36.0	35.0					4																	185599419		2196	4288	6484	SO:0001583	missense	201973			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.878A>G	4.37:g.185599419A>G	ENSP00000313816:p.Tyr293Cys	Somatic		WXS	SOLID	Phase_I	D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	ENST00000314970.6	37	CCDS3837.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405537	0.83230	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834	T;T;T;T	0.46063	0.88;1.22;0.88;0.88	5.95	5.95	0.96441	.	0.133229	0.53938	D	0.000054	T	0.68458	0.3003	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72924	-0.4144	10	0.66056	D	0.02	-20.1894	16.4237	0.83790	1.0:0.0:0.0:0.0	.	293;293	Q96LW4;D6RDM1	CC111_HUMAN;.	C	293;164;293;293	ENSP00000313816:Y293C;ENSP00000421913:Y164C;ENSP00000420860:Y293C;ENSP00000425316:Y293C	ENSP00000313816:Y293C	Y	+	2	0	CCDC111	185836413	1.000000	0.71417	0.991000	0.47740	0.956000	0.61745	8.076000	0.89503	2.279000	0.76181	0.533000	0.62120	TAT		0.289	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360827.1		NM_152683	
CEP95	90799	hgsc.bcm.edu;ucsc.edu	37	17	62506379	62506379	+	Silent	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:62506379C>A	ENST00000556440.2	+	3	747	c.237C>A	c.(235-237)gtC>gtA	p.V79V	CEP95_ENST00000553412.1_5'UTR|CEP95_ENST00000581056.1_Silent_p.V79V	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	79						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						ACTTGCAGGTCAGCTTGTCTC	0.373																																																	0													109.0	101.0	104.0					17																	62506379		1922	4146	6068	SO:0001819	synonymous_variant	0			AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.237C>A	17.37:g.62506379C>A		Somatic		WXS	SOLID	Phase_I	B4DMD2|Q96M81	Silent	SNP	ENST00000556440.2	37	CCDS45763.1																																																																																				0.373	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2		NM_138363	
CCZ1	51622	hgsc.bcm.edu	37	7	5944844	5944844	+	Missense_Mutation	SNP	G	G	C	rs143367105		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr7:5944844G>C	ENST00000325974.6	+	7	708	c.642G>C	c.(640-642)gaG>gaC	p.E214D	CCZ1_ENST00000537980.1_Missense_Mutation_p.E71D	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	214						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						ATAGAATGGAGGAAAGCCTGA	0.373																																																	0													23.0	23.0	23.0					7																	5944844		2133	4264	6397	SO:0001583	missense	51622			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.642G>C	7.37:g.5944844G>C	ENSP00000325681:p.Glu214Asp	Somatic		WXS	SOLID	Phase_I	A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	ENST00000325974.6	37	CCDS34597.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012042	0.75046	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	5.85	-1.28	0.09318	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	L	0.46741	1.465	0.50813	D	0.999896	D	0.60575	0.988	P	0.62491	0.903	T	0.57106	-0.7868	9	0.35671	T	0.21	-24.4133	10.9601	0.47381	0.7898:0.0:0.2102:0.0	.	214	P86790	CCZ1L_HUMAN	D	214;71	.	ENSP00000325681:E214D	E	+	3	2	CCZ1	5911370	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.953000	0.29162	-0.118000	0.11851	0.650000	0.86243	GAG		0.373	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340391.1		NM_015622	
CSGALNACT1	55790	hgsc.bcm.edu	37	8	19263531	19263531	+	Silent	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr8:19263531A>T	ENST00000454498.2	-	10	2372	c.1359T>A	c.(1357-1359)ctT>ctA	p.L453L	CSGALNACT1_ENST00000522854.1_Silent_p.L453L|CSGALNACT1_ENST00000332246.6_Silent_p.L453L|CSGALNACT1_ENST00000311540.4_Silent_p.L453L|CSGALNACT1_ENST00000544602.1_Silent_p.L453L	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	453					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		ACTTGCGATAAAGGTGCACAT	0.542																																																	0													144.0	129.0	134.0					8																	19263531		2203	4300	6503	SO:0001819	synonymous_variant	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.1359T>A	8.37:g.19263531A>T		Somatic		WXS	SOLID	Phase_I	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	CCDS6010.1																																																																																				0.542	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1		NM_018371	
CDCA2	157313	hgsc.bcm.edu;ucsc.edu	37	8	25341648	25341648	+	Silent	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr8:25341648C>T	ENST00000330560.3	+	10	1764	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Silent_p.L414L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	429					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCAGTGGTCTCAGTTCCCTGC	0.453																																																	0													119.0	115.0	117.0					8																	25341648		2203	4300	6503	SO:0001819	synonymous_variant	157313			BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1287C>T	8.37:g.25341648C>T		Somatic		WXS	SOLID	Phase_I	Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Silent	SNP	ENST00000330560.3	37	CCDS6049.1																																																																																				0.453	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3		NM_152562	
CUL9	23113	hgsc.bcm.edu	37	6	43174215	43174215	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:43174215G>A	ENST00000252050.4	+	26	5263	c.5179G>A	c.(5179-5181)Gcc>Acc	p.A1727T	CUL9_ENST00000372647.2_Missense_Mutation_p.A1727T|CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Missense_Mutation_p.A1617T	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1727					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.A1727S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ATTCTGTGATGCCCTTGACCG	0.542																																																	1	Substitution - Missense(1)	ovary(1)											107.0	104.0	105.0					6																	43174215		2203	4300	6503	SO:0001583	missense	23113			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5179G>A	6.37:g.43174215G>A	ENSP00000252050:p.Ala1727Thr	Somatic		WXS	SOLID	Phase_I	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	6.291	0.421735	0.11928	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74315	-0.83;-0.83;-0.83	5.36	3.3	0.37823	Cullin, N-terminal (1);Cullin homology (2);	0.605711	0.18317	N	0.144916	T	0.21387	0.0515	N	0.04090	-0.28	0.30142	N	0.803806	B;P;P	0.34864	0.063;0.473;0.473	B;B;B	0.34931	0.037;0.192;0.192	T	0.40040	-0.9584	10	0.02654	T	1	-21.2764	3.416	0.07376	0.0999:0.3278:0.4338:0.1384	.	1617;1727;1727	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	T	1727;1617;1727	ENSP00000252050:A1727T;ENSP00000346490:A1617T;ENSP00000361730:A1727T	ENSP00000252050:A1727T	A	+	1	0	CUL9	43282193	0.989000	0.36119	1.000000	0.80357	0.991000	0.79684	1.487000	0.35540	2.507000	0.84556	0.591000	0.81541	GCC		0.542	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089	
CYGB	114757	hgsc.bcm.edu	37	17	74527607	74527607	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:74527607A>T	ENST00000293230.5	-	2	672	c.310T>A	c.(310-312)Tct>Act	p.S104T	CYGB_ENST00000586160.1_5'Flank|CYGB_ENST00000589145.1_Missense_Mutation_p.S39T|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589342.1_Missense_Mutation_p.S104T|CYGB_ENST00000590175.1_Missense_Mutation_p.S39T	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	104	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						GCGAGCACAGAGGACACCTTG	0.647																																																	0													104.0	91.0	96.0					17																	74527607		2203	4300	6503	SO:0001583	missense	114757			AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"""stellate cell activation-associated protein"", ""histoglobin"""	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.310T>A	17.37:g.74527607A>T	ENSP00000293230:p.Ser104Thr	Somatic		WXS	SOLID	Phase_I	Q541Y7|Q8N2X5	Missense_Mutation	SNP	ENST00000293230.5	37	CCDS11746.1	.	.	.	.	.	.	.	.	.	.	A	13.71	2.318240	0.40996	.	.	ENSG00000161544	ENST00000293230	D	0.93076	-3.16	5.52	4.43	0.53597	Globin-like (1);Globin, structural domain (1);	0.169812	0.56097	D	0.000040	D	0.88085	0.6342	L	0.33753	1.03	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.82131	-0.0609	10	0.40728	T	0.16	-13.9841	9.9562	0.41668	0.729:0.0:0.0:0.271	.	104	Q8WWM9	CYGB_HUMAN	T	104	ENSP00000293230:S104T	ENSP00000293230:S104T	S	-	1	0	CYGB	72039202	1.000000	0.71417	0.951000	0.38953	0.940000	0.58332	3.855000	0.55957	0.901000	0.36495	0.379000	0.24179	TCT		0.647	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450590.1		NM_134268	
DIP2B	57609	hgsc.bcm.edu;ucsc.edu	37	12	51138438	51138438	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:51138438T>C	ENST00000301180.5	+	38	4581	c.4547T>C	c.(4546-4548)cTa>cCa	p.L1516P	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1516						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAGGAAGCCCTAGATCTGGTC	0.507																																																	0													186.0	145.0	159.0					12																	51138438		2203	4300	6503	SO:0001583	missense	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4547T>C	12.37:g.51138438T>C	ENSP00000301180:p.Leu1516Pro	Somatic		WXS	SOLID	Phase_I	Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.919450	0.73098	.	.	ENSG00000066084	ENST00000301180	T	0.10763	2.84	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.31420	0.0796	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00860	-1.1537	10	0.54805	T	0.06	-10.2576	16.0399	0.80667	0.0:0.0:0.0:1.0	.	1516	Q9P265	DIP2B_HUMAN	P	1516	ENSP00000301180:L1516P	ENSP00000301180:L1516P	L	+	2	0	DIP2B	49424705	1.000000	0.71417	0.925000	0.36789	0.974000	0.67602	7.825000	0.86693	2.371000	0.80710	0.533000	0.62120	CTA		0.507	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602	
ENPEP	2028	hgsc.bcm.edu;ucsc.edu	37	4	111412268	111412268	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:111412268T>G	ENST00000265162.5	+	3	1208	c.866T>G	c.(865-867)tTt>tGt	p.F289C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	289					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTGGTGTGCTTTGCTGTACAT	0.343																																																	0													92.0	96.0	95.0					4																	111412268		2203	4300	6503	SO:0001583	missense	2028			L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.866T>G	4.37:g.111412268T>G	ENSP00000265162:p.Phe289Cys	Somatic		WXS	SOLID	Phase_I	Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.147944	0.57151	.	.	ENSG00000138792	ENST00000265162	T	0.05855	3.38	4.82	4.82	0.62117	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.31104	0.0786	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.25047	-1.0143	10	0.72032	D	0.01	.	11.3666	0.49675	0.0:0.0:0.1516:0.8484	.	289	Q07075	AMPE_HUMAN	C	289	ENSP00000265162:F289C	ENSP00000265162:F289C	F	+	2	0	ENPEP	111631717	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	7.197000	0.77814	1.935000	0.56089	0.528000	0.53228	TTT		0.343	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			
EPB41L4A	64097	hgsc.bcm.edu	37	5	111496629	111496629	+	IGR	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:111496629T>C	ENST00000261486.5	-	0	4707				EPB41L4A-AS1_ENST00000413221.2_lincRNA|SNORA13_ENST00000458790.1_RNA|EPB41L4A_ENST00000507810.1_Intron	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CGCCTGGCTGTGGCCGCGTGG	0.642											OREG0016724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													80.0	74.0	76.0					5																	111496629		692	1591	2283	SO:0001628	intergenic_variant	114915			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902		5.37:g.111496629T>C		Somatic	1435	WXS	SOLID	Phase_I	A4FUI6	RNA	SNP	ENST00000261486.5	37	CCDS43350.1																																																																																				0.642	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1			
FBXL3	26224	hgsc.bcm.edu	37	13	77581415	77581415	+	Silent	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr13:77581415A>G	ENST00000355619.5	-	5	1476	c.1152T>C	c.(1150-1152)ggT>ggC	p.G384G	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	384					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATAGGCGGCCACCACACATCT	0.413																																																	0													120.0	114.0	116.0					13																	77581415		2203	4300	6503	SO:0001819	synonymous_variant	26224			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.1152T>C	13.37:g.77581415A>G		Somatic		WXS	SOLID	Phase_I	B2RB04|Q9P122	Silent	SNP	ENST00000355619.5	37	CCDS9457.1																																																																																				0.413	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			
FGFBP1	9982	hgsc.bcm.edu;ucsc.edu	37	4	15937909	15937909	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:15937909A>G	ENST00000382333.1	-	3	641	c.347T>C	c.(346-348)gTt>gCt	p.V116A	FGFBP1_ENST00000259988.2_Missense_Mutation_p.V116A	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	116					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						ATTCCGGGCAACTTGTTTCCA	0.443																																																	0													103.0	100.0	101.0					4																	15937909		2203	4300	6503	SO:0001583	missense	9982			M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.347T>C	4.37:g.15937909A>G	ENSP00000371770:p.Val116Ala	Somatic		WXS	SOLID	Phase_I	A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	A	12.01	1.809338	0.31961	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.18016	2.24;2.24	5.65	5.65	0.86999	.	0.332054	0.34386	N	0.004006	T	0.18882	0.0453	L	0.40543	1.245	0.27153	N	0.961356	B	0.23128	0.08	B	0.29077	0.098	T	0.14952	-1.0454	10	0.72032	D	0.01	-19.808	14.8498	0.70286	1.0:0.0:0.0:0.0	.	116	Q14512	FGFP1_HUMAN	A	116	ENSP00000371770:V116A;ENSP00000259988:V116A	ENSP00000259988:V116A	V	-	2	0	FGFBP1	15547007	0.995000	0.38212	0.092000	0.20876	0.006000	0.05464	5.547000	0.67249	2.165000	0.68154	0.523000	0.50628	GTT		0.443	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1		NM_005130	
FLT4	2324	hgsc.bcm.edu	37	5	180048826	180048826	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:180048826T>C	ENST00000261937.6	-	13	1814	c.1736A>G	c.(1735-1737)cAa>cGa	p.Q579R	FLT4_ENST00000502649.1_Missense_Mutation_p.Q579R|FLT4_ENST00000393347.3_Missense_Mutation_p.Q579R|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	579	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTGTCGGCTTGGCAGCTCAG	0.622																																					Colon(97;1075 1466 27033 27547 35871)												0													80.0	84.0	83.0					5																	180048826		2203	4298	6501	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1736A>G	5.37:g.180048826T>C	ENSP00000261937:p.Gln579Arg	Somatic		WXS	SOLID	Phase_I	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	7.911	0.736511	0.15574	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.13196	2.61;2.61;2.61	4.64	-6.0	0.02206	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03095	0.0091	N	0.00707	-1.245	0.19300	N	0.99998	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.49103	-0.8974	9	0.13853	T	0.58	.	10.3254	0.43790	0.1094:0.1128:0.0:0.7778	.	579;389;579;579	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	R	579;579;579;389	ENSP00000261937:Q579R;ENSP00000377016:Q579R;ENSP00000426057:Q579R	ENSP00000261937:Q579R	Q	-	2	0	FLT4	179981432	0.001000	0.12720	0.064000	0.19789	0.461000	0.32589	-0.148000	0.10219	-1.331000	0.02252	-0.441000	0.05720	CAA		0.622	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			
FPGS	2356	hgsc.bcm.edu	37	9	130566577	130566577	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr9:130566577T>C	ENST00000373247.2	+	2	202	c.152T>C	c.(151-153)aTg>aCg	p.M51T	FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_Missense_Mutation_p.M51T|FPGS_ENST00000393706.2_Missense_Mutation_p.M51T|FPGS_ENST00000373225.3_Start_Codon_SNP_p.M1T	NM_004957.4	NP_004948.4	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	51					brain development (GO:0007420)|folic acid metabolic process (GO:0046655)|liver development (GO:0001889)|nucleobase-containing compound metabolic process (GO:0006139)|one-carbon metabolic process (GO:0006730)|organ regeneration (GO:0031100)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|tetrahydrofolylpolyglutamate synthase activity (GO:0004326)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					Methotrexate(DB00563)|Pralatrexate(DB06813)|Raltitrexed(DB00293)	GCCGTGCGCATGCTCAATACC	0.597																																																	0													67.0	61.0	63.0					9																	130566577		2203	4300	6503	SO:0001583	missense	2356				CCDS35148.1, CCDS35149.1, CCDS75905.1	9q34.11	2013-09-19			ENSG00000136877	ENSG00000136877	6.3.2.17		3824	protein-coding gene	gene with protein product		136510					Standard	NM_004957		Approved		uc004bsg.1	Q05932	OTTHUMG00000020716	ENST00000373247.2:c.152T>C	9.37:g.130566577T>C	ENSP00000362344:p.Met51Thr	Somatic		WXS	SOLID	Phase_I	B3KPW4|B7Z2Z3|F5H0K6|Q5JU19|Q5JU22|Q6P2P6	Missense_Mutation	SNP	ENST00000373247.2	37	CCDS35148.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.673639	0.47781	.	.	ENSG00000136877	ENST00000373247;ENST00000373245;ENST00000393706;ENST00000373228;ENST00000373225;ENST00000431857;ENST00000423577	T;T;T;T;T	0.27890	3.09;1.64;3.08;1.64;2.58	5.27	0.87	0.19102	Mur ligase, central (2);	0.212733	0.48286	N	0.000191	T	0.08492	0.0211	N	0.00760	-1.21	0.25277	N	0.98946	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.25257	-1.0137	10	0.66056	D	0.02	-17.789	4.9528	0.14023	0.168:0.5861:0.0:0.2459	.	51;51	Q05932-4;Q05932	.;FOLC_HUMAN	T	51;51;51;51;1;1;1	ENSP00000362344:M51T;ENSP00000362342:M51T;ENSP00000377309:M51T;ENSP00000362325:M51T;ENSP00000362322:M1T	ENSP00000362322:M1T	M	+	2	0	FPGS	129606398	0.774000	0.28592	0.985000	0.45067	0.933000	0.57130	1.269000	0.33074	-0.130000	0.11599	0.460000	0.39030	ATG		0.597	FPGS-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054251.1			
FYCO1	79443	hgsc.bcm.edu	37	3	46009603	46009603	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr3:46009603T>A	ENST00000296137.2	-	8	1428	c.1223A>T	c.(1222-1224)cAa>cTa	p.Q408L	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q408L	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	408					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCTAGGGCTTGAAGCTTCTC	0.562																																																	0													227.0	229.0	228.0					3																	46009603		2203	4300	6503	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1223A>T	3.37:g.46009603T>A	ENSP00000296137:p.Gln408Leu	Somatic		WXS	SOLID	Phase_I	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	ENST00000296137.2	37	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	T	6.201	0.405179	0.11754	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.23552	1.91;1.9	4.97	-5.84	0.02318	.	0.959049	0.08697	N	0.907110	T	0.21674	0.0522	L	0.47716	1.5	0.09310	N	1	B;B	0.18166	0.026;0.018	B;B	0.15484	0.01;0.013	T	0.19063	-1.0317	10	0.32370	T	0.25	2.2978	15.3506	0.74380	0.0:0.2814:0.0:0.7186	.	408;408	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	L	408	ENSP00000296137:Q408L;ENSP00000441178:Q408L	ENSP00000296137:Q408L	Q	-	2	0	FYCO1	45984607	0.000000	0.05858	0.000000	0.03702	0.370000	0.29829	-0.407000	0.07178	-1.183000	0.02723	-1.601000	0.00813	CAA		0.562	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2		NM_024513	
GOLPH3	64083	hgsc.bcm.edu;ucsc.edu	37	5	32126658	32126658	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:32126658A>T	ENST00000265070.6	-	4	872	c.557T>A	c.(556-558)gTa>gAa	p.V186E	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	186					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TGTTGTCAATACACCCTTTTC	0.378																																																	0													176.0	173.0	174.0					5																	32126658		2203	4300	6503	SO:0001583	missense	64083			AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.557T>A	5.37:g.32126658A>T	ENSP00000265070:p.Val186Glu	Somatic		WXS	SOLID	Phase_I	Q9UIW5	Missense_Mutation	SNP	ENST00000265070.6	37	CCDS3896.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758565	0.69763	.	.	ENSG00000113384	ENST00000265070;ENST00000542582	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.85843	0.5791	M	0.91663	3.23	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88383	0.3003	9	0.62326	D	0.03	-22.8981	16.8061	0.85666	1.0:0.0:0.0:0.0	.	186	Q9H4A6	GOLP3_HUMAN	E	186;169	.	ENSP00000265070:V186E	V	-	2	0	GOLPH3	32162415	1.000000	0.71417	0.860000	0.33809	0.793000	0.44817	8.904000	0.92590	2.367000	0.80283	0.528000	0.53228	GTA		0.378	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2		NM_022130	
GPR108	56927	hgsc.bcm.edu;ucsc.edu	37	19	6731511	6731511	+	Silent	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr19:6731511C>T	ENST00000264080.7	-	15	1349	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	GPR108_ENST00000598626.1_5'UTR|GPR108_ENST00000430424.4_Silent_p.L199L	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	441						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						GGAACAGCTTCAGCTTGGCCA	0.667																																																	0													25.0	27.0	26.0					19																	6731511		2058	4188	6246	SO:0001819	synonymous_variant	56927				CCDS42479.1	19p13.3	2014-01-30				ENSG00000125734		"""GPCR / Unclassified : 7TM orphan receptors"""	17829	protein-coding gene	gene with protein product							Standard	NM_001080452		Approved	LUSTR2	uc002mfp.3	Q9NPR9	OTTHUMG00000170129	ENST00000264080.7:c.1323G>A	19.37:g.6731511C>T		Somatic		WXS	SOLID	Phase_I	B9EJD7	Silent	SNP	ENST00000264080.7	37	CCDS42479.1																																																																																				0.667	GPR108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407508.2			
GPR116	221395	hgsc.bcm.edu;ucsc.edu	37	6	46856140	46856140	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:46856140A>C	ENST00000283296.7	-	4	548	c.260T>G	c.(259-261)cTc>cGc	p.L87R	GPR116_ENST00000362015.4_Missense_Mutation_p.L87R|GPR116_ENST00000265417.7_Missense_Mutation_p.L87R|GPR116_ENST00000478711.1_5'UTR|GPR116_ENST00000456426.2_Missense_Mutation_p.L87R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	87					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGGAAAACTGAGGCTGTTCAA	0.388																																					NSCLC(59;410 1274 8751 36715 50546)												0													148.0	141.0	143.0					6																	46856140		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.260T>G	6.37:g.46856140A>C	ENSP00000283296:p.Leu87Arg	Somatic		WXS	SOLID	Phase_I	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	A	19.10	3.761329	0.69763	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.50277	0.85;1.23;0.75;0.85	5.66	4.51	0.55191	.	0.236987	0.29900	N	0.010919	T	0.54095	0.1837	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.76575	0.988;0.956;0.988	T	0.60811	-0.7189	10	0.87932	D	0	-17.9979	8.4369	0.32793	0.9121:0.0:0.0879:0.0	.	87;87;87	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	R	87	ENSP00000283296:L87R;ENSP00000354563:L87R;ENSP00000412866:L87R;ENSP00000265417:L87R	ENSP00000265417:L87R	L	-	2	0	GPR116	46964099	1.000000	0.71417	0.913000	0.36048	0.984000	0.73092	4.386000	0.59620	1.094000	0.41399	0.533000	0.62120	CTC		0.388	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2		NM_015234	
IQCE	23288	hgsc.bcm.edu	37	7	2632756	2632756	+	Silent	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr7:2632756T>C	ENST00000402050.2	+	15	1529	c.1345T>C	c.(1345-1347)Ttg>Ctg	p.L449L	IQCE_ENST00000404984.1_Silent_p.L398L|IQCE_ENST00000438376.2_Silent_p.L433L|IQCE_ENST00000325979.7_Silent_p.L384L	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	449						mitochondrion (GO:0005739)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.23e-13)		agaggAGGTTTTGAGGTATGT	0.662																																																	0													130.0	169.0	156.0					7																	2632756		2124	4222	6346	SO:0001819	synonymous_variant	23288			AL136792	CCDS43542.1, CCDS47527.1, CCDS47527.2, CCDS75559.1, CCDS75560.1	7p22.3	2006-04-12			ENSG00000106012	ENSG00000106012			29171	protein-coding gene	gene with protein product						10470851	Standard	XR_242067		Approved	KIAA1023	uc003smo.4	Q6IPM2	OTTHUMG00000152047	ENST00000402050.2:c.1345T>C	7.37:g.2632756T>C		Somatic		WXS	SOLID	Phase_I	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Silent	SNP	ENST00000402050.2	37	CCDS43542.1																																																																																				0.662	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2		NM_152558	
ITPR3	3710	hgsc.bcm.edu	37	6	33635706	33635706	+	Silent	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:33635706C>T	ENST00000374316.5	+	17	2911	c.1851C>T	c.(1849-1851)acC>acT	p.T617T	ITPR3_ENST00000605930.1_Silent_p.T617T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	617					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	AGGTGGAGACCTTCGTCAGCC	0.632																																																	0													168.0	130.0	143.0					6																	33635706		2203	4300	6503	SO:0001819	synonymous_variant	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1851C>T	6.37:g.33635706C>T		Somatic		WXS	SOLID	Phase_I	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.632	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224	
KATNA1	11104	hgsc.bcm.edu	37	6	149918641	149918641	+	Splice_Site	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:149918641A>C	ENST00000335647.5	-	8	1195		c.e8+1		SNORA2_ENST00000365473.1_RNA|KATNA1_ENST00000335643.8_Splice_Site|KATNA1_ENST00000367411.2_Splice_Site|KATNA1_ENST00000494504.1_Splice_Site					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AAAGGAAGATACCTGACGGCA	0.353																																																	0													89.0	89.0	89.0					6																	149918641		2203	4300	6503	SO:0001630	splice_region_variant	11104			AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.1150+1T>G	6.37:g.149918641A>C		Somatic		WXS	SOLID	Phase_I		Splice_Site	SNP	ENST00000335647.5	37	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.412167	0.83340	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8671	0.79074	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KATNA1	149960334	1.000000	0.71417	0.995000	0.50966	0.898000	0.52572	9.339000	0.96797	2.151000	0.67156	0.460000	0.39030	.		0.353	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2		NM_007044	Intron
KIAA0586	9786	hgsc.bcm.edu	37	14	58954742	58954742	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr14:58954742C>G	ENST00000556134.1	+	24	3671	c.3397C>G	c.(3397-3399)Ctt>Gtt	p.L1133V	KIAA0586_ENST00000354386.6_Missense_Mutation_p.L1201V|KIAA0586_ENST00000423743.3_Missense_Mutation_p.L1104V|KIAA0586_ENST00000261244.5_Missense_Mutation_p.L1072V|KIAA0586_ENST00000538571.2_3'UTR	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	1133					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCCCAGAGCTTCCCAAGCC	0.458																																																	0													33.0	34.0	34.0					14																	58954742		1889	4108	5997	SO:0001583	missense	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.3397C>G	14.37:g.58954742C>G	ENSP00000452351:p.Leu1133Val	Somatic		WXS	SOLID	Phase_I	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009521	0.35415	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.18	-3.54	0.04653	.	0.807763	0.11394	N	0.568500	T	0.28134	0.0694	L	0.50333	1.59	0.21020	N	0.999801	B;B;P;B;B;B	0.36837	0.009;0.021;0.571;0.417;0.021;0.037	B;B;B;B;B;B	0.31101	0.005;0.012;0.121;0.124;0.012;0.012	T	0.15636	-1.0430	10	0.25106	T	0.35	.	1.8586	0.03184	0.112:0.3965:0.2185:0.273	.	1008;1008;1201;1072;1133;1104	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	V	1201;1133;1104;1072;1008	ENSP00000346359:L1201V;ENSP00000452351:L1133V;ENSP00000399427:L1104V;ENSP00000261244:L1072V	ENSP00000261244:L1072V	L	+	1	0	KIAA0586	58024495	0.224000	0.23674	0.887000	0.34795	0.951000	0.60555	0.023000	0.13533	-0.523000	0.06409	0.580000	0.79431	CTT		0.458	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1		NM_014749	
KRT2	3849	hgsc.bcm.edu	37	12	53042852	53042852	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:53042852A>C	ENST00000309680.3	-	4	917	c.896T>G	c.(895-897)tTg>tGg	p.L299W		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	299	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CTTGGACTGCAACTCCACCTT	0.522																																																	0													154.0	122.0	133.0					12																	53042852		2203	4300	6503	SO:0001583	missense	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.896T>G	12.37:g.53042852A>C	ENSP00000310861:p.Leu299Trp	Somatic		WXS	SOLID	Phase_I	Q4VAQ2	Missense_Mutation	SNP	ENST00000309680.3	37	CCDS8835.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574847	0.45902	.	.	ENSG00000172867	ENST00000309680	D	0.94184	-3.37	4.65	3.49	0.39957	Filament (1);	.	.	.	.	D	0.97882	0.9304	H	0.98833	4.345	0.35292	D	0.782276	D	0.89917	1.0	D	0.97110	1.0	D	0.99882	1.1115	9	0.87932	D	0	.	10.5183	0.44903	0.9229:0.0:0.0771:0.0	.	299	P35908	K22E_HUMAN	W	299	ENSP00000310861:L299W	ENSP00000310861:L299W	L	-	2	0	KRT2	51329119	0.996000	0.38824	0.912000	0.35992	0.053000	0.15095	9.040000	0.93783	0.927000	0.37143	-0.290000	0.09829	TTG		0.522	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423	
LGI1	9211	hgsc.bcm.edu;ucsc.edu	37	10	95557392	95557392	+	Silent	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:95557392T>C	ENST00000371418.4	+	8	1766	c.1506T>C	c.(1504-1506)taT>taC	p.Y502Y	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Silent_p.Y454Y	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	502					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				CTCAAGTGTATAACTGGGATG	0.378																																																	0													71.0	73.0	72.0					10																	95557392		2203	4300	6503	SO:0001819	synonymous_variant	9211			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1506T>C	10.37:g.95557392T>C		Somatic		WXS	SOLID	Phase_I	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	CCDS7431.1																																																																																				0.378	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1		NM_005097	
LINGO1	84894	hgsc.bcm.edu	37	15	77907534	77907534	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr15:77907534A>T	ENST00000355300.6	-	2	889	c.715T>A	c.(715-717)Tac>Aac	p.Y239N	LINGO1_ENST00000561030.1_Missense_Mutation_p.Y233N	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	239					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TTGAGTCGGTACAGCCTCTTG	0.597																																																	0													117.0	126.0	123.0					15																	77907534		2174	4280	6454	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.715T>A	15.37:g.77907534A>T	ENSP00000347451:p.Tyr239Asn	Somatic		WXS	SOLID	Phase_I	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	A	10.49	1.364297	0.24684	.	.	ENSG00000169783	ENST00000355300	T	0.52057	0.68	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.47637	0.1456	M	0.67953	2.075	0.80722	D	1	B	0.31274	0.317	B	0.30716	0.119	T	0.43163	-0.9408	10	0.28530	T	0.3	.	15.5531	0.76170	1.0:0.0:0.0:0.0	.	239	Q96FE5	LIGO1_HUMAN	N	239	ENSP00000347451:Y239N	ENSP00000347451:Y239N	Y	-	1	0	LINGO1	75694589	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.426000	0.59882	2.087000	0.62958	0.459000	0.35465	TAC		0.597	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1		NM_032808	
LIPN	643418	hgsc.bcm.edu	37	10	90521220	90521220	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:90521220G>A	ENST00000404459.1	+	1	58	c.58G>A	c.(58-60)Gga>Aga	p.G20R		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	20					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		AAATGCTGGTGGATTCCTTGA	0.348																																																	0													145.0	140.0	142.0					10																	90521220		1841	4087	5928	SO:0001583	missense	643418				CCDS44456.1	10q23.31	2013-09-20	2007-02-27	2007-02-27	ENSG00000204020	ENSG00000204020			23452	protein-coding gene	gene with protein product		613924	"""lipase-like, ab-hydrolase domain containing 4"""	LIPL4			Standard	NM_001102469		Approved	bA186O14.3	uc010qmw.2	Q5VXI9	OTTHUMG00000018694	ENST00000404459.1:c.58G>A	10.37:g.90521220G>A	ENSP00000383923:p.Gly20Arg	Somatic		WXS	SOLID	Phase_I	A7KIH9	Missense_Mutation	SNP	ENST00000404459.1	37	CCDS44456.1	.	.	.	.	.	.	.	.	.	.	G	2.835	-0.241711	0.05906	.	.	ENSG00000204020	ENST00000404459	T	0.69175	-0.38	5.4	3.44	0.39384	.	0.658962	0.14820	N	0.296516	T	0.47893	0.1470	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.29305	-1.0016	10	0.23891	T	0.37	-5.3782	8.4457	0.32841	0.195:0.0:0.805:0.0	.	20	Q5VXI9	LIPN_HUMAN	R	20	ENSP00000383923:G20R	ENSP00000383923:G20R	G	+	1	0	LIPN	90511200	0.002000	0.14202	0.008000	0.14137	0.059000	0.15707	1.093000	0.30939	0.745000	0.32763	0.655000	0.94253	GGA		0.348	LIPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049254.2		XM_926751	
TRGV2	6974	hgsc.bcm.edu;ucsc.edu	37	7	38402537	38402537	+	RNA	SNP	G	G	T	rs2392564		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr7:38402537G>T	ENST00000426402.2	-	0	471									T cell receptor gamma variable 2																		ATCTCAAGTTGTTCCTTGTGC	0.468																																																	0													106.0	99.0	101.0					7																	38402537		1915	4121	6036			100506776			M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402537G>T		Somatic		WXS	SOLID	Phase_I		RNA	SNP	ENST00000426402.2	37																																																																																					0.468	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4		NG_001336	
LPHN3	23284	hgsc.bcm.edu;ucsc.edu	37	4	62849248	62849248	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:62849248G>A	ENST00000514591.1	+	18	3288	c.2959G>A	c.(2959-2961)Ggc>Agc	p.G987S	LPHN3_ENST00000508693.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000512091.2_Missense_Mutation_p.G987S|LPHN3_ENST00000509896.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000508946.1_Missense_Mutation_p.G987S|LPHN3_ENST00000514157.1_Missense_Mutation_p.G987S|LPHN3_ENST00000545650.1_Missense_Mutation_p.G987S|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1055S|LPHN3_ENST00000506700.1_Missense_Mutation_p.G987S|LPHN3_ENST00000504896.1_Missense_Mutation_p.G987S|LPHN3_ENST00000514996.1_Missense_Mutation_p.G987S|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1055S			Q9HAR2	LPHN3_HUMAN	latrophilin 3	974					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTATCTGGTCGGCTATGGGAT	0.433																																																	0													210.0	207.0	208.0					4																	62849248		1931	4150	6081	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2959G>A	4.37:g.62849248G>A	ENSP00000422533:p.Gly987Ser	Somatic		WXS	SOLID	Phase_I	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.261822|5.261822	0.95368|0.95368	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.84516|.	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86|.	5.72|5.72	5.72|5.72	0.89469|0.89469	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84211|0.84211	0.5422|0.5422	M|M	0.87180|0.87180	2.865|2.865	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	D|D	0.85367|0.85367	0.1111|0.1111	10|5	0.51188|.	T|.	0.08|.	.|.	19.8917|19.8917	0.96932|0.96932	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	987;974;987|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	S|Q	987;987;1055;1055;987;987;974;987;1055;1055;1055;987;987;987;1055;1055;987|444	ENSP00000423388:G987S;ENSP00000422533:G987S;ENSP00000423787:G1055S;ENSP00000425033:G1055S;ENSP00000424120:G987S;ENSP00000439831:G987S;ENSP00000421476:G1055S;ENSP00000424030:G1055S;ENSP00000421372:G1055S;ENSP00000425201:G987S;ENSP00000423434:G987S;ENSP00000421627:G987S;ENSP00000420931:G1055S;ENSP00000425884:G1055S;ENSP00000424258:G987S|.	ENSP00000280009:G987S|.	G|R	+|+	1|2	0|0	LPHN3|LPHN3	62531843|62531843	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.966000|0.966000	0.64601|0.64601	9.869000|9.869000	0.99810|0.99810	2.705000|2.705000	0.92388|0.92388	0.591000|0.591000	0.81541|0.81541	GGC|CGG		0.433	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			
MAP2K3	5606	hgsc.bcm.edu	37	17	21207795	21207795	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:21207795T>G	ENST00000342679.4	+	8	875	c.626T>G	c.(625-627)tTt>tGt	p.F209C	MAP2K3_ENST00000316920.6_Missense_Mutation_p.F180C|MAP2K3_ENST00000361818.5_Missense_Mutation_p.F180C	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ATGTGTGACTTTGGCATCAGT	0.587																																																	0													313.0	212.0	246.0					17																	21207795		2203	4300	6503	SO:0001583	missense	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.626T>G	17.37:g.21207795T>G	ENSP00000345083:p.Phe209Cys	Somatic		WXS	SOLID	Phase_I	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.952334	0.73787	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.74002	-0.8;-0.8	4.98	3.9	0.45041	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	0.64402	D	0.000001	D	0.91188	0.7224	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91973	0.5588	10	0.87932	D	0	-16.5084	10.5968	0.45343	0.0:0.0763:0.0:0.9237	.	209	P46734	MP2K3_HUMAN	C	209;180;180;213	ENSP00000345083:F209C;ENSP00000355081:F180C	ENSP00000319139:F213C	F	+	2	0	MAP2K3	21148388	1.000000	0.71417	0.929000	0.37066	0.958000	0.62258	6.157000	0.71846	0.747000	0.32809	0.460000	0.39030	TTT		0.587	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2		NM_145109	
MED17	9440	hgsc.bcm.edu;ucsc.edu	37	11	93521254	93521254	+	Missense_Mutation	SNP	A	A	G	rs540904807		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr11:93521254A>G	ENST00000251871.3	+	2	625	c.338A>G	c.(337-339)tAt>tGt	p.Y113C	MED17_ENST00000530819.1_Missense_Mutation_p.Y113C	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	113					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGTGTTCTCTATGATGTTCTC	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		14636	0.0		0.0	False		,,,				2504	0.001																0													132.0	128.0	129.0					11																	93521254		2201	4298	6499	SO:0001583	missense	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.338A>G	11.37:g.93521254A>G	ENSP00000251871:p.Tyr113Cys	Somatic		WXS	SOLID	Phase_I	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212733	0.58452	.	.	ENSG00000042429	ENST00000251871;ENST00000530819;ENST00000427225;ENST00000533359;ENST00000528786	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.44	5.44	0.79542	.	0.111999	0.64402	D	0.000008	T	0.57169	0.2035	L	0.44542	1.39	0.58432	D	0.999995	B;D	0.63046	0.427;0.992	B;P	0.53146	0.333;0.719	T	0.56195	-0.8019	10	0.38643	T	0.18	-18.8692	15.5103	0.75776	1.0:0.0:0.0:0.0	.	113;113	Q9NVC6;Q9NVC6-2	MED17_HUMAN;.	C	113;113;83;113;5	ENSP00000251871:Y113C;ENSP00000434459:Y113C;ENSP00000431524:Y113C;ENSP00000433626:Y5C	ENSP00000251871:Y113C	Y	+	2	0	MED17	93160902	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.144000	0.94629	2.076000	0.62316	0.528000	0.53228	TAT		0.403	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2		NM_004268	
MSH4	4438	hgsc.bcm.edu	37	1	76282224	76282224	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:76282224G>T	ENST00000263187.3	+	6	1086	c.982G>T	c.(982-984)Gac>Tac	p.D328Y		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	328					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TAATAATCAAGACTATAGGTA	0.274								Mismatch excision repair (MMR)																																									0													51.0	52.0	52.0					1																	76282224		2203	4299	6502	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.982G>T	1.37:g.76282224G>T	ENSP00000263187:p.Asp328Tyr	Somatic		WXS	SOLID	Phase_I	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	CCDS670.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.616507	0.66672	.	.	ENSG00000057468	ENST00000263187	D	0.93076	-3.16	5.44	5.44	0.79542	DNA mismatch repair protein MutS, core (2);	0.000000	0.85682	D	0.000000	D	0.94112	0.8112	M	0.76328	2.33	0.50467	D	0.999873	P	0.34909	0.475	P	0.45167	0.472	D	0.94406	0.7627	10	0.72032	D	0.01	-13.4764	19.2675	0.93996	0.0:0.0:1.0:0.0	.	328	O15457	MSH4_HUMAN	Y	328	ENSP00000263187:D328Y	ENSP00000263187:D328Y	D	+	1	0	MSH4	76054812	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	6.306000	0.72810	2.573000	0.86826	0.655000	0.94253	GAC		0.274	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1		NM_002440	
MTG1	92170	hgsc.bcm.edu;ucsc.edu	37	10	135209280	135209280	+	Splice_Site	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:135209280G>A	ENST00000317502.6	+	2	226	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	RP11-108K14.8_ENST00000468317.2_Splice_Site_p.R64Q|MTG1_ENST00000477902.2_Splice_Site_p.R18Q	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	59	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CACGATGCCCGGATATCCTTT	0.527																																																	0													68.0	63.0	64.0					10																	135209280		2203	4300	6503	SO:0001630	splice_region_variant	92170				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.177+1G>A	10.37:g.135209280G>A		Somatic		WXS	SOLID	Phase_I	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	g	24.1	4.494907	0.85069	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.17854	2.25;2.25;2.25	4.27	4.27	0.50696	.	1.329130	0.05021	N	0.472734	T	0.49525	0.1562	H	0.97365	3.99	0.49915	D	0.999836	D	0.53619	0.961	P	0.47744	0.556	T	0.62742	-0.6790	10	0.66056	D	0.02	-2.2405	14.2461	0.65990	0.0:0.0:1.0:0.0	.	59	Q9BT17	MTG1_HUMAN	Q	64;59;59;18	ENSP00000436767:R64Q;ENSP00000323047:R59Q;ENSP00000393480:R59Q	ENSP00000323047:R59Q	R	+	2	0	AL360181.1;MTG1	135059270	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.185000	0.77714	2.208000	0.71279	0.650000	0.86243	CGG		0.527	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1		NM_138384	Missense_Mutation
MYH14	79784	hgsc.bcm.edu	37	19	50813031	50813033	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr19:50813031_50813033delCAG	ENST00000596571.1	+	40	5972_5974	c.5972_5974delCAG	c.(5971-5976)ccagcc>ccc	p.A1992del	MYH14_ENST00000425460.1_In_Frame_Del_p.A2000del|MYH14_ENST00000262269.8_In_Frame_Del_p.A2033del|MYH14_ENST00000440075.2_In_Frame_Del_p.A2033del|CTB-191K22.5_ENST00000595563.1_RNA|MYH14_ENST00000598205.1_In_Frame_Del_p.A2000del|MYH14_ENST00000601313.1_In_Frame_Del_p.A2033del|MYH14_ENST00000376970.2_In_Frame_Del_p.A2025del			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1992					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGGTCCCCACCAGCCCACCCCCA	0.695																																																	0																																										SO:0001651	inframe_deletion	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5972_5974delCAG	19.37:g.50813031_50813033delCAG	ENSP00000472819:p.Ala1992del	Somatic		WXS	SOLID	Phase_I	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	In_Frame_Del	DEL	ENST00000596571.1	37	CCDS59411.1																																																																																				0.695	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2		NM_024729	
NES	10763	hgsc.bcm.edu	37	1	156640157	156640157	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:156640157G>A	ENST00000368223.3	-	4	3955	c.3823C>T	c.(3823-3825)Ccc>Tcc	p.P1275S		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1275	Tail.		P -> L (in dbSNP:rs3748570). {ECO:0000269|PubMed:1478958, ECO:0000269|PubMed:18669648, ECO:0000269|PubMed:21406692}.		brain development (GO:0007420)|cell projection morphogenesis (GO:0048858)|central nervous system development (GO:0007417)|embryonic camera-type eye development (GO:0031076)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of catalytic activity (GO:0043086)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein binding (GO:0032091)|positive regulation of intermediate filament depolymerization (GO:0030844)|positive regulation of neural precursor cell proliferation (GO:2000179)|stem cell proliferation (GO:0072089)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	intermediate filament binding (GO:0019215)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCTCCTGGGGGCCCTCGGGG	0.652																																																	0													74.0	87.0	82.0					1																	156640157		2203	4300	6503	SO:0001583	missense	10763			X65964	CCDS1151.1	1q23	2013-01-16			ENSG00000132688	ENSG00000132688		"""Intermediate filaments type IV"""	7756	protein-coding gene	gene with protein product		600915				1478958, 9104587	Standard	NM_006617		Approved	FLJ21841	uc001fpq.3	P48681	OTTHUMG00000034299	ENST00000368223.3:c.3823C>T	1.37:g.156640157G>A	ENSP00000357206:p.Pro1275Ser	Somatic		WXS	SOLID	Phase_I	O00552|Q3LIF5|Q5SYZ6	Missense_Mutation	SNP	ENST00000368223.3	37	CCDS1151.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382819	0.25031	.	.	ENSG00000132688	ENST00000368223	D	0.85556	-2.0	4.95	3.81	0.43845	.	0.000000	0.29348	N	0.012416	T	0.56171	0.1967	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.56220	-0.8015	10	0.87932	D	0	.	11.0491	0.47876	0.1074:0.0:0.8926:0.0	.	1275	P48681	NEST_HUMAN	S	1275	ENSP00000357206:P1275S	ENSP00000357206:P1275S	P	-	1	0	NES	154906781	0.851000	0.29673	1.000000	0.80357	0.346000	0.29079	1.651000	0.37302	2.285000	0.76669	0.557000	0.71058	CCC		0.652	NES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082844.2		NM_006617	
NF1	4763	hgsc.bcm.edu	37	17	29528456	29528456	+	Missense_Mutation	SNP	A	A	G	rs587782233		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	A	G	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr17:29528456A>G	ENST00000358273.4	+	11	1596	c.1213A>G	c.(1213-1215)Aca>Gca	p.T405A	NF1_ENST00000356175.3_Missense_Mutation_p.T405A|NF1_ENST00000431387.4_Missense_Mutation_p.T405A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	405					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCACCTTCTACATTTCACTA	0.299			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)											84.0	94.0	91.0					17																	29528456		2203	4294	6497	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1213A>G	17.37:g.29528456A>G	ENSP00000351015:p.Thr405Ala	Somatic		WXS	SOLID	Phase_I	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	9.218	1.032574	0.19590	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.17	5.17	0.71159	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	N	0.21194	0.64	0.80722	D	1	B;D;B;B;B	0.56035	0.02;0.974;0.041;0.049;0.049	B;D;B;B;B	0.67725	0.017;0.953;0.032;0.028;0.008	T	0.73369	-0.4004	10	0.06757	T	0.87	.	10.8511	0.46771	0.8588:0.0:0.0:0.1412	.	405;405;405;405;405	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	A	405;405;405;71	ENSP00000412921:T405A;ENSP00000351015:T405A;ENSP00000348498:T405A;ENSP00000389907:T71A	ENSP00000348498:T405A	T	+	1	0	NF1	26552582	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.701000	0.74624	1.953000	0.56701	0.402000	0.26972	ACA		0.299	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2		NM_000267	
OLFML2B	25903	hgsc.bcm.edu;ucsc.edu	37	1	161953696	161953696	+	Silent	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:161953696G>A	ENST00000294794.3	-	8	2445	c.2022C>T	c.(2020-2022)ggC>ggT	p.G674G	OLFML2B_ENST00000367938.1_Silent_p.G157G|OLFML2B_ENST00000367940.2_Silent_p.G675G	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	674	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGAAGCAGTTGCCGTAGAAAT	0.567																																																	0													190.0	174.0	179.0					1																	161953696		2203	4300	6503	SO:0001819	synonymous_variant	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.2022C>T	1.37:g.161953696G>A		Somatic		WXS	SOLID	Phase_I	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	CCDS1236.1																																																																																				0.567	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2		NM_015441	
OR5F1	338674	hgsc.bcm.edu	37	11	55761256	55761256	+	Silent	SNP	A	A	G	rs77110658	byFrequency	TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr11:55761256A>G	ENST00000278409.1	-	1	845	c.846T>C	c.(844-846)atT>atC	p.I282I		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	282					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)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCAACATGGGAATCACCACTG	0.443													G|||	191	0.038139	0.0129	0.0389	5008	,	,		17735	0.001		0.0934	False		,,,				2504	0.0532																0								G		103,4299	814.0+/-416.2	3,97,2101	78.0	78.0	78.0		846	-0.4	0.8	11	dbSNP_131	78	669,7923	785.0+/-407.6	34,601,3661	no	coding-synonymous	OR5F1	NM_003697.1		37,698,5762	GG,GA,AA		7.7863,2.3398,5.9412		282/315	55761256	772,12222	2201	4296	6497	SO:0001819	synonymous_variant	338674			AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.846T>C	11.37:g.55761256A>G		Somatic		WXS	SOLID	Phase_I	Q495D1|Q6IFB9	Silent	SNP	ENST00000278409.1	37	CCDS31515.1																																																																																				0.443	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1		NM_003697	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52621464	52621464	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr3:52621464G>A	ENST00000296302.7	-	19	3029	c.3028C>T	c.(3028-3030)Cga>Tga	p.R1010*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R1010*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R1025*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R978*|PBRM1_ENST00000410007.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1010	BAH 1. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R1010*(4)|p.R978*(2)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGAAATTTTCGTGTAGCCAGG	0.398			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	6	Substitution - Nonsense(6)	kidney(6)											71.0	72.0	71.0					3																	52621464		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3028C>T	3.37:g.52621464G>A	ENSP00000296302:p.Arg1010*	Somatic		WXS	SOLID	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	G	39	7.356284	0.98231	.	.	ENSG00000163939	ENST00000356770;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.92	5.03	0.67393	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0857	0.72151	0.0:0.0:0.668:0.332	.	.	.	.	X	978;1010;1010;1010;1025;1025;1009;968	.	ENSP00000296302:R1010X	R	-	1	2	PBRM1	52596504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.097000	0.50251	1.458000	0.47871	0.655000	0.94253	CGA		0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDHGA11	56105	hgsc.bcm.edu	37	5	140802854	140802856	+	In_Frame_Del	DEL	CCT	CCT	-	rs554024395	byFrequency	TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	CCT	CCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:140802854_140802856delCCT	ENST00000398587.2	+	1	2093_2095	c.2060_2062delCCT	c.(2059-2064)acctca>aca	p.S688del	PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB8P_ENST00000502926.1_RNA|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	688					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCTGAAACCTCAGACCTCTC	0.635														13	0.00259585	0.0	0.0029	5008	,	,		18106	0.0		0.005	False		,,,				2504	0.0061																0									,,,,,,,,,,,,,,,,,,,	14,4250		3,8,2121					,,,,,,,,,,,,,,,,,,,	1.1	0.0			64	94,8158		0,94,4032	no	intron,coding,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding,intron,intron,intron	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA11,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_032092.1,NM_032091.1,NM_032088.1,NM_018927.3,NM_018926.2,NM_018925.2,NM_018924.2,NM_018923.2,NM_018922.2,NM_018921.2,NM_018920.2,NM_018919.2,NM_018918.2,NM_018917.2,NM_018916.3,NM_018915.2,NM_018914.2,NM_018913.2,NM_018912.2,NM_003736.2	,,,,,,,,,,,,,,,,,,,	3,102,6153	A1A1,A1R,RR		1.1391,0.3283,0.8629	,,,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,,,,,		108,12408				SO:0001651	inframe_deletion	56105			AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.2060_2062delCCT	5.37:g.140802854_140802856delCCT	ENSP00000381589:p.Ser688del	Somatic		WXS	SOLID	Phase_I	B7ZVY8|Q9Y5D8|Q9Y5D9	In_Frame_Del	DEL	ENST00000398587.2	37	CCDS47294.1																																																																																				0.635	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1		NM_018914	
PDGFRA	5156	hgsc.bcm.edu	37	4	55133800	55133800	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:55133800A>G	ENST00000257290.5	+	7	1344	c.1013A>G	c.(1012-1014)gAg>gGg	p.E338G	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	338	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTTGTTGTAGAGGTGCGGGCC	0.448			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0													72.0	70.0	71.0					4																	55133800		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1013A>G	4.37:g.55133800A>G	ENSP00000257290:p.Glu338Gly	Somatic		WXS	SOLID	Phase_I	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	9.574	1.121743	0.20877	.	.	ENSG00000134853	ENST00000257290	T	0.68624	-0.34	5.79	4.58	0.56647	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.281890	0.18761	U	0.131900	T	0.62233	0.2411	M	0.71206	2.165	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.12837	0.008;0.002	T	0.55854	-0.8075	10	0.27785	T	0.31	.	8.0915	0.30803	0.7935:0.1369:0.0696:0.0	.	338;338	P16234-3;P16234	.;PGFRA_HUMAN	G	338	ENSP00000257290:E338G	ENSP00000257290:E338G	E	+	2	0	PDGFRA	54828557	0.876000	0.30132	0.866000	0.34008	0.498000	0.33706	3.121000	0.50438	0.990000	0.38787	0.379000	0.24179	GAG		0.448	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206	
PHACTR3	116154	hgsc.bcm.edu	37	20	58322874	58322874	+	Silent	SNP	G	G	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr20:58322874G>A	ENST00000371015.1	+	3	809	c.342G>A	c.(340-342)ctG>ctA	p.L114L	PHACTR3_ENST00000355648.4_Silent_p.L73L|PHACTR3_ENST00000395636.2_Silent_p.L73L|PHACTR3_ENST00000359926.3_Silent_p.L111L|PHACTR3_ENST00000361300.4_Silent_p.L73L|PHACTR3_ENST00000541461.1_Silent_p.L73L|PHACTR3_ENST00000395639.4_Silent_p.L73L	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	114						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGGGGCTGCTGGAGATGATGG	0.582																																																	0													151.0	129.0	136.0					20																	58322874		2203	4300	6503	SO:0001819	synonymous_variant	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.342G>A	20.37:g.58322874G>A		Somatic		WXS	SOLID	Phase_I	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	CCDS13480.1																																																																																				0.582	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3		NM_080672	
PHACTR4	65979	hgsc.bcm.edu	37	1	28785730	28785730	+	Frame_Shift_Del	DEL	A	A	-	rs550399400		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:28785730delA	ENST00000373839.3	+	3	412	c.151delA	c.(151-153)aaafs	p.K53fs	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	53					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S64fs*12(3)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAAATGGAGGAAAAAAAAAAG	0.393																																																	3	Deletion - Frameshift(3)	ovary(2)|breast(1)							,	74,3472		1,72,1700	69.0	66.0	67.0		,	4.4	1.0	1		71	172,7652		3,166,3743	no	frameshift,frameshift	PHACTR4	NM_023923.3,NM_001048183.1	,	4,238,5443	A1A1,A1R,RR		2.1984,2.0869,2.1636	,	,	28785730	246,11124	1842	4093	5935	SO:0001589	frameshift_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.151delA	1.37:g.28785730delA	ENSP00000362945:p.Lys53fs	Somatic		WXS	SOLID	Phase_I	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Del	DEL	ENST00000373839.3	37	CCDS41293.1																																																																																				0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4		NM_023923	
POTED	317754	hgsc.bcm.edu	37	21	15013880	15013880	+	Missense_Mutation	SNP	A	A	G	rs199555161		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr21:15013880A>G	ENST00000299443.5	+	11	1800	c.1748A>G	c.(1747-1749)aAt>aGt	p.N583S		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	583						plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						ACGAAAACCAATATTTAAGTA	0.358																																																	0																																										SO:0001583	missense	317754			AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.1748A>G	21.37:g.15013880A>G	ENSP00000299443:p.Asn583Ser	Somatic		WXS	SOLID	Phase_I	C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	CCDS13562.1	538	0.24633699633699635	132	0.2682926829268293	53	0.1464088397790055	187	0.3269230769230769	166	0.21899736147757257	A	0.001	-3.501032	0.00010	.	.	ENSG00000166351	ENST00000299443	T	0.26223	1.75	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	7	0.06891	T	0.86	.	.	.	.	.	583	Q86YR6	POTED_HUMAN	S	583	ENSP00000299443:N583S	ENSP00000299443:N583S	N	+	2	0	POTED	13935751	0.002000	0.14202	0.002000	0.10522	0.001000	0.01503	-0.414000	0.07114	-1.299000	0.02344	-1.288000	0.01363	AAT		0.358	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1		NM_174981	
PPARD	5467	hgsc.bcm.edu	37	6	35392338	35392338	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:35392338A>G	ENST00000311565.4	+	8	1209	c.860A>G	c.(859-861)cAc>cGc	p.H287R	PPARD_ENST00000360694.3_Missense_Mutation_p.H287R|PPARD_ENST00000540939.1_Missense_Mutation_p.H184R|PPARD_ENST00000444397.1_Missense_Mutation_p.H287R|PPARD_ENST00000418635.2_Missense_Mutation_p.H189R|PPARD_ENST00000448077.2_Missense_Mutation_p.H248R|PPARD_ENST00000337400.2_Missense_Mutation_p.H287R	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	287	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TATGGCGTGCACGAGGCCATC	0.602																																																	0													95.0	77.0	83.0					6																	35392338		2203	4300	6503	SO:0001583	missense	5467			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.860A>G	6.37:g.35392338A>G	ENSP00000310928:p.His287Arg	Somatic		WXS	SOLID	Phase_I	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.279542	0.80692	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.97209	-4.29;-4.29;-4.29;-4.29;-4.29;-4.29;-4.29	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97939	0.9322	M	0.70595	2.14	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.97	D	0.98552	1.0637	10	0.54805	T	0.06	.	16.1814	0.81903	1.0:0.0:0.0:0.0	.	189;248;287;287	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	R	248;287;189;287;287;287;184	ENSP00000414372:H248R;ENSP00000353916:H287R;ENSP00000413314:H189R;ENSP00000410837:H287R;ENSP00000310928:H287R;ENSP00000337063:H287R;ENSP00000443759:H184R	ENSP00000310928:H287R	H	+	2	0	PPARD	35500316	1.000000	0.71417	0.952000	0.39060	0.984000	0.73092	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	CAC		0.602	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1		NM_006238	
PPP1R15A	23645	hgsc.bcm.edu	37	19	49377208	49377208	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr19:49377208A>G	ENST00000200453.5	+	2	987	c.718A>G	c.(718-720)Agt>Ggt	p.S240G		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	240	Glu-rich.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		AACAGAAAGAAGTAAAGGAGC	0.567																																																	0													68.0	78.0	75.0					19																	49377208		2203	4300	6503	SO:0001583	missense	23645			U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		ENST00000200453.5:c.718A>G	19.37:g.49377208A>G	ENSP00000200453:p.Ser240Gly	Somatic		WXS	SOLID	Phase_I	B4DKQ3|Q6IA96|Q9NVU6	Missense_Mutation	SNP	ENST00000200453.5	37	CCDS12738.1	.	.	.	.	.	.	.	.	.	.	A	11.19	1.565390	0.27915	.	.	ENSG00000087074	ENST00000200453;ENST00000540695;ENST00000544084	T	0.05382	3.45	3.92	0.7	0.18099	.	2.114120	0.01652	N	0.024611	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	P	0.39216	0.664	B	0.33454	0.164	T	0.33085	-0.9882	10	0.23891	T	0.37	1.1235	5.6885	0.17817	0.6369:0.0:0.3631:0.0	.	240	O75807	PR15A_HUMAN	G	240;80;198	ENSP00000200453:S240G	ENSP00000200453:S240G	S	+	1	0	PPP1R15A	54069020	0.001000	0.12720	0.000000	0.03702	0.026000	0.11368	0.607000	0.24209	0.213000	0.20722	0.459000	0.35465	AGT		0.567	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1		NM_014330	
PRAMEF22	653606	hgsc.bcm.edu	37	1	13038119	13038119	+	Missense_Mutation	SNP	G	G	C	rs202041730		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:13038119G>C	ENST00000376187.1	+	3	1184	c.1184G>C	c.(1183-1185)gGt>gCt	p.G395A	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	395					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						TCCATGGATGGTCTGAAGGAC	0.562																																																	0													1.0	1.0	1.0					1																	13038119		13	46	59	SO:0001583	missense	653606					1p36.21	2013-01-17			ENSG00000204508			"""-"""	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.1184G>C	1.37:g.13038119G>C	ENSP00000365358:p.Gly395Ala	Somatic		WXS	SOLID	Phase_I	A6NMM3	Missense_Mutation	SNP	ENST00000376187.1	37	CCDS41256.1	1226	0.5613553113553114	266	0.540650406504065	207	0.5718232044198895	352	0.6153846153846154	401	0.5290237467018469	.	0.005	-2.169174	0.00315	.	.	ENSG00000204508	ENST00000376187	T	0.61510	0.1	1.23	-1.52	0.08637	.	2.708670	0.01331	N	0.011249	T	0.00012	0.0000	N	0.01197	-0.965	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.36601	-0.9741	9	0.06891	T	0.86	.	2.9042	0.05715	0.0:0.367:0.2412:0.3918	.	395	A3QJZ6	PRA22_HUMAN	A	395	ENSP00000365358:G395A	ENSP00000365358:G395A	G	+	2	0	PRAMEF22	12960706	0.000000	0.05858	0.001000	0.08648	0.056000	0.15407	-3.898000	0.00339	-1.100000	0.03030	-1.116000	0.02052	GGT		0.562	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158511.1		NM_001100631	
PSMD7	5713	hgsc.bcm.edu;ucsc.edu	37	16	74334042	74334042	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr16:74334042T>G	ENST00000219313.4	+	2	244	c.104T>G	c.(103-105)gTt>gGt	p.V35G	PSMD7_ENST00000568615.2_Missense_Mutation_p.V35G|PSMD7_ENST00000540379.1_5'UTR|PSMD7_ENST00000567958.1_Missense_Mutation_p.V35G	NM_002811.4	NP_002802.2	P51665	PSMD7_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 7	35	MPN.				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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	protein homodimerization activity (GO:0042803)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	15						CAGAAGCGTGTTGTTGGTGTG	0.403																																																	0													146.0	121.0	129.0					16																	74334042		2198	4300	6498	SO:0001583	missense	5713			D50063	CCDS10910.1	16q22.3	2010-10-15	2007-07-06		ENSG00000103035	ENSG00000103035		"""Proteasome (prosome, macropain) subunits"""	9565	protein-coding gene	gene with protein product	"""Mov34 homolog"""	157970	"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 7 (Mov34 homolog)"""			7755639	Standard	NM_002811		Approved	S12, P40, MOV34, Rpn8	uc002fcq.3	P51665	OTTHUMG00000137601	ENST00000219313.4:c.104T>G	16.37:g.74334042T>G	ENSP00000219313:p.Val35Gly	Somatic		WXS	SOLID	Phase_I	D3DWS9|Q6PKI2|Q96E97	Missense_Mutation	SNP	ENST00000219313.4	37	CCDS10910.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.850580	0.91277	.	.	ENSG00000103035	ENST00000219313	T	0.66460	-0.21	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.87649	0.6230	H	0.96175	3.78	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91563	0.5266	10	0.87932	D	0	-43.2565	15.9444	0.79782	0.0:0.0:0.0:1.0	.	35	P51665	PSD7_HUMAN	G	35	ENSP00000219313:V35G	ENSP00000219313:V35G	V	+	2	0	PSMD7	72891543	1.000000	0.71417	0.932000	0.37286	0.910000	0.53928	7.981000	0.88123	2.173000	0.68751	0.482000	0.46254	GTT		0.403	PSMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269010.2		NM_002811	
PTPN11	5781	hgsc.bcm.edu	37	12	112893798	112893798	+	Silent	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:112893798A>G	ENST00000351677.2	+	6	885	c.687A>G	c.(685-687)agA>agG	p.R229R	PTPN11_ENST00000392597.1_Silent_p.R229R	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	229					abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TAGAAAGCAGAGTTCGAGAAC	0.358			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	0													58.0	56.0	57.0					12																	112893798		2203	4300	6503	SO:0001819	synonymous_variant	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.687A>G	12.37:g.112893798A>G		Somatic		WXS	SOLID	Phase_I	A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	10.63	1.404884	0.25378	.	.	ENSG00000179295	ENST00000530818	.	.	.	5.03	-6.37	0.01963	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44390	-0.9331	4	.	.	.	.	1.0352	0.01547	0.3229:0.0913:0.2342:0.3515	.	.	.	.	G	74	.	.	E	+	2	0	PTPN11	111378181	0.052000	0.20516	0.987000	0.45799	0.996000	0.88848	-0.782000	0.04643	-0.600000	0.05790	0.374000	0.22700	GAG		0.358	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2			
PXN	5829	hgsc.bcm.edu	37	12	120650285	120650285	+	Silent	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr12:120650285A>G	ENST00000228307.7	-	12	1749	c.1608T>C	c.(1606-1608)tcT>tcC	p.S536S	PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Silent_p.S534S|PXN-AS1_ENST00000542265.1_RNA|PXN_ENST00000397506.3_Silent_p.S348S|PXN_ENST00000267257.7_Silent_p.S550S|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000538804.1_RNA|PXN_ENST00000424649.2_Silent_p.S502S|PXN_ENST00000458477.2_Silent_p.S369S|PXN-AS1_ENST00000539446.1_RNA|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	536	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTGGCAGCCAGAACACAGCG	0.617																																																	0													45.0	56.0	52.0					12																	120650285		2079	4201	6280	SO:0001819	synonymous_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.1608T>C	12.37:g.120650285A>G		Somatic		WXS	SOLID	Phase_I	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Silent	SNP	ENST00000228307.7	37	CCDS44997.1																																																																																				0.617	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4		NM_002859	
RFWD2	64326	hgsc.bcm.edu;ucsc.edu	37	1	176132093	176132093	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:176132093C>A	ENST00000367669.3	-	5	1188	c.674G>T	c.(673-675)tGg>tTg	p.W225L	RFWD2_ENST00000308769.8_Missense_Mutation_p.W221L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	225					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGTTCCCAACCAATCTTGAAA	0.378																																					Ovarian(134;1413 1765 5706 35534 51541)												0													90.0	87.0	88.0					1																	176132093		2203	4300	6503	SO:0001583	missense	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.674G>T	1.37:g.176132093C>A	ENSP00000356641:p.Trp225Leu	Somatic		WXS	SOLID	Phase_I	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	37	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	C	2.698	-0.271694	0.05716	.	.	ENSG00000143207	ENST00000367669;ENST00000367666;ENST00000308769;ENST00000498306;ENST00000436424	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.65	4.52	0.55395	.	0.246394	0.34435	N	0.003972	T	0.02929	0.0087	N	0.00583	-1.355	0.21020	N	0.9998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.40979	-0.9534	10	0.09590	T	0.72	0.0382	12.6729	0.56876	0.8606:0.1394:0.0:0.0	.	221;225;225	Q8NHY2-2;Q8NHY2;Q504W6	.;RFWD2_HUMAN;.	L	225;80;221;84;225	ENSP00000356641:W225L;ENSP00000356638:W80L;ENSP00000310943:W221L;ENSP00000433810:W84L	ENSP00000310943:W221L	W	-	2	0	RFWD2	174398716	1.000000	0.71417	0.578000	0.28575	0.983000	0.72400	5.740000	0.68629	0.974000	0.38366	-0.347000	0.07816	TGG		0.378	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2		NM_022457	
RGS17	26575	hgsc.bcm.edu;ucsc.edu	37	6	153332893	153332894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr6:153332893_153332894insT	ENST00000367225.2	-	4	472_473	c.448_449insA	c.(448-450)agtfs	p.S150fs	RGS17_ENST00000206262.1_Frame_Shift_Ins_p.S150fs			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	150	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AGAATCAAGACTGACCTAAAAA	0.317																																					Esophageal Squamous(78;500 1236 6775 24364 49058)												0																																										SO:0001589	frameshift_variant	26575			AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.449dupA	6.37:g.153332894_153332894dupT	ENSP00000356194:p.Ser150fs	Somatic		WXS	SOLID	Phase_I	Q5TF49|Q8TD61|Q9UJS8	Frame_Shift_Ins	INS	ENST00000367225.2	37	CCDS5244.1																																																																																				0.317	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			
ROBO2	6092	hgsc.bcm.edu	37	3	77626662	77626662	+	Missense_Mutation	SNP	C	C	G	rs201453939		TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr3:77626662C>G	ENST00000461745.1	+	15	3125	c.2225C>G	c.(2224-2226)tCt>tGt	p.S742C	ROBO2_ENST00000332191.8_Missense_Mutation_p.S742C|ROBO2_ENST00000487694.3_Missense_Mutation_p.S758C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	742	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCACCACAGTCTGTCACTGTA	0.423																																																	0													87.0	89.0	88.0					3																	77626662		1899	4116	6015	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2225C>G	3.37:g.77626662C>G	ENSP00000417164:p.Ser742Cys	Somatic		WXS	SOLID	Phase_I	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	50	0.022893772893772892	4	0.008130081300813009	0	0.0	9	0.015734265734265736	37	0.048812664907651716	C	20.4	3.990730	0.74589	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57752	0.38;0.38;0.38	5.66	5.66	0.87406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000339	T	0.29749	0.0743	L	0.58810	1.83	0.40575	D	0.981331	D;D;D	0.67145	0.984;0.996;0.984	P;P;P	0.62649	0.905;0.893;0.905	T	0.57493	-0.7802	9	0.72032	D	0.01	.	19.7501	0.96265	0.0:1.0:0.0:0.0	.	758;742;742	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	C	758;758;762;742;742;463	ENSP00000417335:S758C;ENSP00000417164:S742C;ENSP00000327536:S742C	ENSP00000327536:S742C	S	+	2	0	ROBO2	77709352	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.244000	0.72391	2.667000	0.90743	0.491000	0.48974	TCT		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2		XM_031246	
ROPN1L	83853	hgsc.bcm.edu	37	5	10461349	10461350	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:10461349_10461350delGG	ENST00000503804.1	+	5	992_993	c.471_472delGG	c.(469-474)gagggcfs	p.G159fs	ROPN1L_ENST00000274134.4_Frame_Shift_Del_p.G159fs|ROPN1L_ENST00000510520.1_3'UTR			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	159					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ACGATCCGGAGGGCGGGCCCGC	0.569																																																	0																																										SO:0001589	frameshift_variant	83853			AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.471_472delGG	5.37:g.10461349_10461350delGG	ENSP00000421405:p.Gly159fs	Somatic		WXS	SOLID	Phase_I	D3DTC9|Q9BZX0	Frame_Shift_Del	DEL	ENST00000503804.1	37	CCDS3879.1																																																																																				0.569	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1		NM_031916	
RPS6KA6	27330	hgsc.bcm.edu;ucsc.edu	37	X	83320077	83320077	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chrX:83320077A>G	ENST00000262752.2	-	21	2021	c.2014T>C	c.(2014-2016)Tat>Cat	p.Y672H	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.Y672H	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	672	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TCAGCAGTATACCGCTGATGT	0.338																																																	0													165.0	139.0	148.0					X																	83320077		2203	4300	6503	SO:0001583	missense	27330			AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.2014T>C	X.37:g.83320077A>G	ENSP00000262752:p.Tyr672His	Somatic		WXS	SOLID	Phase_I	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	37	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.119664	0.77323	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.40476	1.03;1.03	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060180	0.64402	D	0.000002	T	0.52980	0.1768	L	0.49699	1.58	0.58432	D	0.999999	P;P	0.48911	0.837;0.917	P;P	0.56343	0.722;0.796	T	0.56914	-0.7900	10	0.87932	D	0	.	13.6714	0.62427	1.0:0.0:0.0:0.0	.	672;672	B7ZL90;Q9UK32	.;KS6A6_HUMAN	H	672	ENSP00000262752:Y672H;ENSP00000440830:Y672H	ENSP00000262752:Y672H	Y	-	1	0	RPS6KA6	83206733	1.000000	0.71417	0.990000	0.47175	0.890000	0.51754	6.648000	0.74359	1.670000	0.50864	0.486000	0.48141	TAT		0.338	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1		NM_014496	
RXRG	6258	hgsc.bcm.edu	37	1	165398156	165398156	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:165398156A>C	ENST00000359842.5	-	2	399	c.97T>G	c.(97-99)Ttg>Gtg	p.L33V		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	33	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	CCTGTGGACAAGGCTGCTGAT	0.587																																																	0													63.0	55.0	58.0					1																	165398156		2203	4300	6503	SO:0001583	missense	6258			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.97T>G	1.37:g.165398156A>C	ENSP00000352900:p.Leu33Val	Somatic		WXS	SOLID	Phase_I	A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	A	8.243	0.807289	0.16467	.	.	ENSG00000143171	ENST00000359842	D	0.92149	-2.98	4.71	-0.379	0.12493	.	0.845551	0.10190	N	0.704793	T	0.67942	0.2947	N	0.22421	0.69	0.35298	D	0.782795	B	0.02656	0.0	B	0.04013	0.001	T	0.42361	-0.9456	9	0.13853	T	0.58	.	4.9662	0.14091	0.3328:0.1954:0.4719:0.0	.	33	P48443	RXRG_HUMAN	V	33	ENSP00000352900:L33V	ENSP00000352900:L33V	L	-	1	2	RXRG	163664780	0.918000	0.31147	1.000000	0.80357	0.993000	0.82548	-0.019000	0.12546	0.313000	0.23062	0.459000	0.35465	TTG		0.587	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		NM_006917	
SAFB2	9667	hgsc.bcm.edu;ucsc.edu	37	19	5621374	5621374	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr19:5621374T>C	ENST00000252542.4	-	2	484	c.220A>G	c.(220-222)Att>Gtt	p.I74V	SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000588852.1_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000433404.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	74					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TCGATGCCAATTTCATCAGGA	0.438																																					Ovarian(127;888 1728 23957 44128 52668)												0													330.0	303.0	312.0					19																	5621374		2203	4300	6503	SO:0001583	missense	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.220A>G	19.37:g.5621374T>C	ENSP00000252542:p.Ile74Val	Somatic		WXS	SOLID	Phase_I	B4DKG3|Q8TB13	Missense_Mutation	SNP	ENST00000252542.4	37	CCDS32879.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153724	0.57259	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542;ENST00000536849	T	0.11385	2.78	4.44	-3.05	0.05396	DNA-binding SAP (1);	0.624763	0.13707	N	0.368361	T	0.07324	0.0185	L	0.35288	1.05	0.24104	N	0.995865	B;B	0.15473	0.01;0.013	B;B	0.15870	0.014;0.004	T	0.30794	-0.9966	10	0.33940	T	0.23	-0.7676	9.3049	0.37870	0.0:0.0765:0.5473:0.3762	.	74;74	A0PJ47;Q14151	.;SAFB2_HUMAN	V	74;74;74;74;53	ENSP00000252542:I74V	ENSP00000252542:I74V	I	-	1	0	SAFB2	5572374	0.534000	0.26362	0.002000	0.10522	0.861000	0.49209	0.429000	0.21412	-0.604000	0.05760	0.379000	0.24179	ATT		0.438	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451016.1		NM_014649	
SREK1	140890	hgsc.bcm.edu;ucsc.edu	37	5	65455094	65455094	+	5'UTR	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:65455094C>T	ENST00000380918.3	+	0	655				SREK1_ENST00000284041.3_3'UTR|SREK1_ENST00000334121.6_Missense_Mutation_p.P115S	NM_139168.3	NP_631907.1	Q8WXA9	SREK1_HUMAN	splicing regulatory glutamine/lysine-rich protein 1						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						GGCTCCTGCTCCAACCATGAC	0.443																																					GBM(10;31 347 27684 38976 41583)												0													87.0	88.0	88.0					5																	65455094		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AF459094	CCDS3991.1, CCDS43323.1, CCDS75253.1	5q11.2-q12.1	2013-02-12	2010-09-08	2010-09-08	ENSG00000153914	ENSG00000153914		"""RNA binding motif (RRM) containing"""	17882	protein-coding gene	gene with protein product	"""serine-arginine-rich splicing regulatory protein 508"""	609268	"""splicing factor, arginine/serine-rich 12"""	SFRS12		12043562	Standard	NM_001077199		Approved	DKFZp564B176, SRrp86, SRrp508	uc003jun.4	Q8WXA9	OTTHUMG00000097809	ENST00000380918.3:c.-6C>T	5.37:g.65455094C>T		Somatic		WXS	SOLID	Phase_I	A4FTW3|Q2M1J0|Q86X37	Missense_Mutation	SNP	ENST00000380918.3	37	CCDS3991.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.856079	0.32791	.	.	ENSG00000153914	ENST00000334121;ENST00000537482	T	0.46063	0.88	5.54	5.54	0.83059	.	0.205181	0.41823	D	0.000814	T	0.25568	0.0622	N	0.14661	0.345	0.80722	D	1	P	0.37370	0.592	B	0.32289	0.143	T	0.09015	-1.0694	10	0.08837	T	0.75	.	19.479	0.95002	0.0:1.0:0.0:0.0	.	115	Q8WXA9-2	.	S	115	ENSP00000334538:P115S	ENSP00000334538:P115S	P	+	1	0	SREK1	65490850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.978000	0.40598	2.589000	0.87451	0.591000	0.81541	CCA		0.443	SREK1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381118.1		NM_001077199	
SLC12A2	6558	hgsc.bcm.edu;ucsc.edu	37	5	127477609	127477609	+	Nonsense_Mutation	SNP	T	T	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr5:127477609T>G	ENST00000262461.2	+	10	1898	c.1709T>G	c.(1708-1710)tTa>tGa	p.L570*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.L570*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	570					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GCCTGCAAATTAAACTTTGAT	0.388																																																	0													205.0	186.0	192.0					5																	127477609		2203	4300	6503	SO:0001587	stop_gained	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1709T>G	5.37:g.127477609T>G	ENSP00000262461:p.Leu570*	Somatic		WXS	SOLID	Phase_I	Q8N713|Q8WWH7	Nonsense_Mutation	SNP	ENST00000262461.2	37	CCDS4144.1	.	.	.	.	.	.	.	.	.	.	T	39	7.359854	0.98235	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	4.5	4.5	0.54988	.	0.320825	0.29273	N	0.012640	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9923	0.64374	0.0:0.0:0.0:1.0	.	.	.	.	X	570	.	ENSP00000262461:L570X	L	+	2	0	SLC12A2	127505508	0.868000	0.29978	1.000000	0.80357	0.994000	0.84299	5.709000	0.68384	1.887000	0.54652	0.528000	0.53228	TTA		0.388	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1		NM_001046	
SLC7A2	6542	hgsc.bcm.edu;ucsc.edu	37	8	17401011	17401011	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr8:17401011C>A	ENST00000494857.1	+	3	381	c.163C>A	c.(163-165)Ctc>Atc	p.L55I	SLC7A2_ENST00000398090.3_Missense_Mutation_p.L95I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L55I|SLC7A2_ENST00000470360.1_Missense_Mutation_p.L95I|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L95I	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	55					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTTTATGTCCTCGCTGGGGA	0.602																																																	0													68.0	57.0	61.0					8																	17401011		2203	4300	6503	SO:0001583	missense	6542			D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.163C>A	8.37:g.17401011C>A	ENSP00000419140:p.Leu55Ile	Somatic		WXS	SOLID	Phase_I	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807849	0.50421	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.64	5.64	0.86602	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.95884	0.8660	M	0.83223	2.63	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.945;0.945;0.998	D	0.95621	0.8681	10	0.66056	D	0.02	.	20.0897	0.97814	0.0:1.0:0.0:0.0	.	95;95;55	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	I	55;55;95;95;95	ENSP00000419140:L55I;ENSP00000430464:L55I;ENSP00000419873:L95I;ENSP00000004531:L95I;ENSP00000381164:L95I	ENSP00000004531:L95I	L	+	1	0	SLC7A2	17445390	0.998000	0.40836	0.297000	0.24988	0.038000	0.13279	3.787000	0.55439	2.832000	0.97577	0.655000	0.94253	CTC		0.602	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3		NM_003046	
SMEK1	55671	hgsc.bcm.edu;ucsc.edu	37	14	91937228	91937228	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr14:91937228C>A	ENST00000554943.1	-	10	1728	c.1613G>T	c.(1612-1614)cGg>cTg	p.R538L	SMEK1_ENST00000555462.1_Missense_Mutation_p.R299L|SMEK1_ENST00000337238.4_Missense_Mutation_p.R525L|SMEK1_ENST00000554684.1_Missense_Mutation_p.R525L|SMEK1_ENST00000428424.2_Missense_Mutation_p.R299L			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	538					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TAGCACTCTCCGGAGGATATC	0.353																																																	0													119.0	121.0	120.0					14																	91937228		2203	4300	6503	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1613G>T	14.37:g.91937228C>A	ENSP00000450883:p.Arg538Leu	Somatic		WXS	SOLID	Phase_I	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37		.	.	.	.	.	.	.	.	.	.	C	34	5.376668	0.95945	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72003	0.3407	M	0.84846	2.72	0.80722	D	1	D;D;D	0.76494	0.992;0.989;0.999	D;P;D	0.72982	0.969;0.9;0.979	T	0.68762	-0.5323	10	0.23302	T	0.38	-7.1543	19.7741	0.96385	0.0:1.0:0.0:0.0	.	299;538;525	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	L	525;525;299;538;299;525	ENSP00000450864:R525L;ENSP00000337125:R525L;ENSP00000392704:R299L;ENSP00000450883:R538L;ENSP00000450891:R299L;ENSP00000452596:R525L	ENSP00000337125:R525L	R	-	2	0	SMEK1	91006981	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.066000	0.71185	2.673000	0.90976	0.557000	0.71058	CGG		0.353	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1		NM_032560	
STOX2	56977	hgsc.bcm.edu;ucsc.edu	37	4	184930539	184930539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr4:184930539C>A	ENST00000308497.4	+	3	1983	c.548C>A	c.(547-549)tCa>tAa	p.S183*	STOX2_ENST00000438269.1_Nonsense_Mutation_p.S183*	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	183					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCCTCTGCCTCAGGCTGTGTC	0.567																																																	0													94.0	99.0	97.0					4																	184930539		2142	4243	6385	SO:0001587	stop_gained	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.548C>A	4.37:g.184930539C>A	ENSP00000311257:p.Ser183*	Somatic		WXS	SOLID	Phase_I	A6H8U4|Q9NPS8	Nonsense_Mutation	SNP	ENST00000308497.4	37	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	49	15.807595	0.99845	.	.	ENSG00000173320	ENST00000308497;ENST00000438269;ENST00000512520	.	.	.	5.25	5.25	0.73442	.	0.131155	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.0551	19.3982	0.94617	0.0:1.0:0.0:0.0	.	.	.	.	X	183;183;121	.	ENSP00000311257:S183X	S	+	2	0	STOX2	185167533	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.416000	0.80143	2.894000	0.99253	0.655000	0.94253	TCA		0.567	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3		NM_020225	
SVIL	6840	hgsc.bcm.edu	37	10	29840075	29840075	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:29840075A>G	ENST00000355867.4	-	6	1030	c.278T>C	c.(277-279)aTg>aCg	p.M93T	SVIL_ENST00000375400.3_Missense_Mutation_p.M93T|SVIL_ENST00000375398.2_Missense_Mutation_p.M93T	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	93	Interaction with MYLK. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GTGGGTGTCCATGGTACCCGA	0.502																																																	0													152.0	129.0	137.0					10																	29840075		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.278T>C	10.37:g.29840075A>G	ENSP00000348128:p.Met93Thr	Somatic		WXS	SOLID	Phase_I	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	A	0.016	-1.514222	0.00975	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.39592	1.07;1.07;1.07	5.27	1.54	0.23209	.	0.502533	0.23674	N	0.045684	T	0.33933	0.0880	M	0.66939	2.045	0.80722	D	1	B;P	0.37914	0.002;0.611	B;B	0.33750	0.002;0.169	T	0.04811	-1.0925	9	.	.	.	-14.1323	6.4929	0.22125	0.7281:0.1317:0.1403:0.0	.	93;93	O95425-2;O95425	.;SVIL_HUMAN	T	93	ENSP00000364549:M93T;ENSP00000364547:M93T;ENSP00000348128:M93T	.	M	-	2	0	SVIL	29880081	1.000000	0.71417	0.637000	0.29366	0.296000	0.27459	3.850000	0.55918	0.009000	0.14813	0.482000	0.46254	ATG		0.502	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			
THNSL2	55258	hgsc.bcm.edu	37	2	88485426	88485426	+	Silent	SNP	G	G	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr2:88485426G>T	ENST00000324166.5	+	8	2930	c.1239G>T	c.(1237-1239)cgG>cgT	p.R413R	THNSL2_ENST00000358591.2_Silent_p.R413R|THNSL2_ENST00000496844.1_3'UTR|THNSL2_ENST00000377254.3_Missense_Mutation_p.V363L|THNSL2_ENST00000343544.4_3'UTR|THNSL2_ENST00000449349.1_Missense_Mutation_p.G239V	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	413					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCACTCCCCGGTGCTGCCTCG	0.622																																																	0													16.0	20.0	19.0					2																	88485426		2128	4238	6366	SO:0001819	synonymous_variant	55258				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.1239G>T	2.37:g.88485426G>T		Somatic		WXS	SOLID	Phase_I	B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	ENST00000324166.5	37	CCDS2002.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.99|15.99	2.994583|2.994583	0.54041|0.54041	.|.	.|.	ENSG00000144115|ENSG00000144115	ENST00000449349|ENST00000377254;ENST00000544063	T|T	0.16324|0.13901	2.35|2.55	5.98|5.98	-2.62|-2.62	0.06152|0.06152	.|.	.|.	.|.	.|.	.|.	T|T	0.08313|0.08313	0.0207|0.0207	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	P|B	0.47106|0.23806	0.89|0.091	P|B	0.48368|0.26094	0.575|0.066	T|T	0.31280|0.31280	-0.9949|-0.9949	8|8	0.72032|0.20519	D|T	0.01|0.43	.|.	9.4524|9.4524	0.38734|0.38734	0.1889:0.3871:0.4239:0.0|0.1889:0.3871:0.4239:0.0	.|.	239|205	C9JU10|A8K0C1	.|.	V|L	239|363;205	ENSP00000407553:G239V|ENSP00000366464:V363L	ENSP00000407553:G239V|ENSP00000366464:V363L	G|V	+|+	2|1	0|0	THNSL2|THNSL2	88266541|88266541	1.000000|1.000000	0.71417|0.71417	0.737000|0.737000	0.30932|0.30932	0.920000|0.920000	0.55202|0.55202	0.874000|0.874000	0.28065|0.28065	-0.364000|-0.364000	0.08088|0.08088	0.655000|0.655000	0.94253|0.94253	GGT|GTG		0.622	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252662.1		NM_018271	
TMEM196	256130	hgsc.bcm.edu;ucsc.edu	37	7	19765340	19765340	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr7:19765340T>A	ENST00000405764.3	-	3	952	c.256A>T	c.(256-258)Aat>Tat	p.N86Y	TMEM196_ENST00000493519.1_Missense_Mutation_p.N18Y|TMEM196_ENST00000422233.1_Missense_Mutation_p.N18Y|TMEM196_ENST00000433641.1_Missense_Mutation_p.N18Y|TMEM196_ENST00000405844.1_Missense_Mutation_p.N86Y	NM_152774.3	NP_689987.3	Q5HYL7	TM196_HUMAN	transmembrane protein 196	92						integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						AACTGAAAATTCAGGATGCCC	0.493																																																	0													91.0	93.0	92.0					7																	19765340		2203	4300	6503	SO:0001583	missense	256130				CCDS34607.2	7p15.3	2007-11-21			ENSG00000173452	ENSG00000173452			22431	protein-coding gene	gene with protein product							Standard	NM_152774		Approved	MGC42090	uc011jyg.2	Q5HYL7	OTTHUMG00000152504	ENST00000405764.3:c.256A>T	7.37:g.19765340T>A	ENSP00000384234:p.Asn86Tyr	Somatic		WXS	SOLID	Phase_I	Q8N6I6	Missense_Mutation	SNP	ENST00000405764.3	37	CCDS34607.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.024190	0.75390	.	.	ENSG00000173452	ENST00000405844;ENST00000405764;ENST00000422233;ENST00000433641;ENST00000493519	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.66713	0.2817	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.70554	-0.4840	9	0.87932	D	0	3.0915	16.0518	0.80769	0.0:0.0:0.0:1.0	.	86	Q5HYL7-4	.	Y	86;86;18;18;18	.	ENSP00000384234:N86Y	N	-	1	0	TMEM196	19731865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.491000	0.81471	2.191000	0.70037	0.533000	0.62120	AAT		0.493	TMEM196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326499.1		NM_152774	
TP53BP2	7159	hgsc.bcm.edu	37	1	223986157	223986157	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr1:223986157G>T	ENST00000343537.7	-	12	1999	c.1708C>A	c.(1708-1710)Caa>Aaa	p.Q570K	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000391878.2_Missense_Mutation_p.Q441K	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	564					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTCTGGTCTTGGCCAACCGAA	0.547																																																	0													163.0	175.0	171.0					1																	223986157		2203	4300	6503	SO:0001583	missense	7159			U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1708C>A	1.37:g.223986157G>T	ENSP00000341957:p.Gln570Lys	Somatic		WXS	SOLID	Phase_I	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	ENST00000343537.7	37	CCDS44319.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640105	0.47153	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.47177	0.85;1.02	5.88	5.88	0.94601	.	0.192439	0.37012	N	0.002294	T	0.47875	0.1469	M	0.63428	1.95	0.80722	D	1	B;B	0.32245	0.361;0.061	B;B	0.27608	0.081;0.024	T	0.44345	-0.9334	10	0.45353	T	0.12	.	18.4228	0.90597	0.0:0.0:1.0:0.0	.	570;564	B4DG66;Q13625	.;ASPP2_HUMAN	K	441;570	ENSP00000375750:Q441K;ENSP00000341957:Q570K	ENSP00000341957:Q570K	Q	-	1	0	TP53BP2	222052780	1.000000	0.71417	0.912000	0.35992	0.280000	0.26924	8.539000	0.90637	2.782000	0.95742	0.655000	0.94253	CAA		0.547	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3		NM_001031685, NM_005426	
TUBAL3	79861	hgsc.bcm.edu;ucsc.edu	37	10	5442885	5442885	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr10:5442885C>T	ENST00000380419.3	-	2	206	c.169G>A	c.(169-171)Gat>Aat	p.D57N	TUBAL3_ENST00000479328.1_Missense_Mutation_p.D17N	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	57					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						AAGAAGGTATCGAAAGATGCA	0.443																																																	0													218.0	190.0	199.0					10																	5442885		2203	4300	6503	SO:0001583	missense	79861			AK025318	CCDS7066.2, CCDS53491.1	10p15.1	2007-03-15			ENSG00000178462	ENSG00000178462		"""Tubulins"""	23534	protein-coding gene	gene with protein product							Standard	NM_024803		Approved	FLJ21665	uc001ihy.3	A6NHL2	OTTHUMG00000017595	ENST00000380419.3:c.169G>A	10.37:g.5442885C>T	ENSP00000369784:p.Asp57Asn	Somatic		WXS	SOLID	Phase_I	B4DKL2|Q4QQJ5|Q9H6Z0	Missense_Mutation	SNP	ENST00000380419.3	37	CCDS7066.2	.	.	.	.	.	.	.	.	.	.	C	3.059	-0.193721	0.06259	.	.	ENSG00000178462	ENST00000380419;ENST00000479328	T;T	0.70164	-0.46;-0.46	3.93	-0.397	0.12423	Tubulin/FtsZ, GTPase domain (4);	1.656400	0.03630	N	0.237847	T	0.36138	0.0956	N	0.01817	-0.705	0.25963	N	0.9826	B;B	0.11235	0.001;0.004	B;B	0.10450	0.001;0.005	T	0.42413	-0.9453	10	0.02654	T	1	.	8.512	0.33224	0.0:0.6364:0.0:0.3636	.	17;57	A6NHL2-2;A6NHL2	.;TBAL3_HUMAN	N	57;17	ENSP00000369784:D57N;ENSP00000418799:D17N	ENSP00000369784:D57N	D	-	1	0	TUBAL3	5432885	0.000000	0.05858	0.009000	0.14445	0.174000	0.22865	-0.083000	0.11286	-0.200000	0.10300	0.563000	0.77884	GAT		0.443	TUBAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046548.2		NM_024803	
UBR1	197131	hgsc.bcm.edu;ucsc.edu	37	15	43367229	43367229	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr15:43367229G>C	ENST00000290650.4	-	4	554	c.476C>G	c.(475-477)aCt>aGt	p.T159S	UBR1_ENST00000382177.2_Missense_Mutation_p.T159S	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	159					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAAAGGGCCAGTTTTCCATGC	0.358																																																	0													179.0	191.0	187.0					15																	43367229		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.476C>G	15.37:g.43367229G>C	ENSP00000290650:p.Thr159Ser	Somatic		WXS	SOLID	Phase_I	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336730	0.24253	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	D;D	0.82081	-1.57;-1.57	5.18	5.18	0.71444	Zinc finger, N-recognin, metazoa (1);Zinc finger, N-recognin (2);	0.278041	0.33916	N	0.004432	T	0.68632	0.3022	N	0.11870	0.19	0.37886	D	0.930541	B;P	0.39352	0.372;0.669	B;B	0.34931	0.158;0.192	T	0.70615	-0.4823	10	0.13470	T	0.59	0.0962	18.6932	0.91590	0.0:0.0:1.0:0.0	.	159;159	B4DYL2;Q8IWV7	.;UBR1_HUMAN	S	159	ENSP00000290650:T159S;ENSP00000371612:T159S	ENSP00000290650:T159S	T	-	2	0	UBR1	41154521	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	4.006000	0.57083	2.399000	0.81585	0.561000	0.74099	ACT		0.358	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1		NM_174916	
WDR13	64743	hgsc.bcm.edu;ucsc.edu	37	X	48462751	48462751	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chrX:48462751A>C	ENST00000218056.5	+	8	1751	c.1246A>C	c.(1246-1248)Atg>Ctg	p.M416L	WDR13_ENST00000376729.5_Missense_Mutation_p.M416L	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	416						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CTGTCCCCTCATGTCCTTCCG	0.637																																																	0													69.0	51.0	57.0					X																	48462751		2203	4300	6503	SO:0001583	missense	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1246A>C	X.37:g.48462751A>C	ENSP00000218056:p.Met416Leu	Somatic		WXS	SOLID	Phase_I	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.013769	0.54468	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.69306	-0.39;-0.39	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	L	0.37630	1.12	0.58432	D	0.999998	B	0.06786	0.001	B	0.12156	0.007	T	0.50206	-0.8855	10	0.12766	T	0.61	0.4528	12.7506	0.57306	1.0:0.0:0.0:0.0	.	416	Q9H1Z4	WDR13_HUMAN	L	416	ENSP00000365919:M416L;ENSP00000218056:M416L	ENSP00000218056:M416L	M	+	1	0	WDR13	48347695	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	8.496000	0.90485	1.918000	0.55548	0.483000	0.47432	ATG		0.637	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			
ZEB2	9839	hgsc.bcm.edu	37	2	145155963	145155963	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr2:145155963A>C	ENST00000558170.2	-	8	3975	c.2791T>G	c.(2791-2793)Ttc>Gtc	p.F931V	ZEB2_ENST00000303660.4_Missense_Mutation_p.F931V|ZEB2_ENST00000539609.3_Missense_Mutation_p.F907V|ZEB2_ENST00000409487.3_Missense_Mutation_p.F931V	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	931					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGTGGTAGGAAGCTCATCTGA	0.498																																					Melanoma(33;1235 1264 5755 16332)												0													149.0	143.0	145.0					2																	145155963		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2791T>G	2.37:g.145155963A>C	ENSP00000454157:p.Phe931Val	Somatic		WXS	SOLID	Phase_I	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217036	0.58560	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14640	2.5;2.49;2.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	L	0.56769	1.78	0.80722	D	1	P;D;D;D	0.63880	0.954;0.993;0.981;0.981	P;D;D;D	0.70227	0.672;0.968;0.954;0.954	T	0.01146	-1.1437	10	0.38643	T	0.18	-9.1512	16.2147	0.82198	1.0:0.0:0.0:0.0	.	907;796;930;931	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	V	907;931;931	ENSP00000443792:F907V;ENSP00000302501:F931V;ENSP00000386854:F931V	ENSP00000302501:F931V	F	-	1	0	ZEB2	144872433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	TTC		0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5		NM_014795	
ZNF273	10793	hgsc.bcm.edu	37	7	64388663	64388663	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr7:64388663T>A	ENST00000476120.1	+	4	1028	c.957T>A	c.(955-957)aaT>aaA	p.N319K	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Missense_Mutation_p.N254K	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	319					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(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AACCCTACAATTGTGAAGAAT	0.333																																					Ovarian(154;605 895 6696 7659 15316 19321 21716 23848 32322 36932)												0													35.0	40.0	38.0					7																	64388663		2203	4299	6502	SO:0001583	missense	10793			X78932	CCDS5528.2	7q11.21	2013-01-08				ENSG00000198039		"""Zinc fingers, C2H2-type"", ""-"""	13067	protein-coding gene	gene with protein product		604756				7865130	Standard	NR_003099		Approved	HZF9	uc003tto.3	Q14593		ENST00000476120.1:c.957T>A	7.37:g.64388663T>A	ENSP00000418719:p.Asn319Lys	Somatic		WXS	SOLID	Phase_I	B3KQZ5|Q6P3V4	Missense_Mutation	SNP	ENST00000476120.1	37	CCDS5528.2	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.224468	0.00283	.	.	ENSG00000198039	ENST00000476120;ENST00000319636	T;T	0.15372	2.43;2.43	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02083	0.0065	N	0.00098	-2.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	9	0.02654	T	1	.	2.4206	0.04447	0.5197:0.2325:0.0:0.2478	.	319	Q14593	ZN273_HUMAN	K	319;254	ENSP00000418719:N319K;ENSP00000324518:N254K	ENSP00000324518:N254K	N	+	3	2	ZNF273	64026098	0.000000	0.05858	0.283000	0.24790	0.282000	0.26991	-2.644000	0.00862	-1.140000	0.02877	-1.166000	0.01754	AAT		0.333	ZNF273-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313502.1			
ZNF462	58499	hgsc.bcm.edu	37	9	109688141	109688141	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3460-01A-02D-1361-10	TCGA-AK-3460-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcd65e5d-a076-4c08-994a-78979a212d5b	40b5509c-dc6b-4999-a1ff-8218cdb5e9e2	g.chr9:109688141T>A	ENST00000277225.5	+	3	2237	c.1948T>A	c.(1948-1950)Tct>Act	p.S650T	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.S650T			Q96JM2	ZN462_HUMAN	zinc finger protein 462	650					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGCCACCCCTCTTCCAGCAA	0.463																																																	0													215.0	224.0	221.0					9																	109688141		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.1948T>A	9.37:g.109688141T>A	ENSP00000277225:p.Ser650Thr	Somatic		WXS	SOLID	Phase_I	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.974060	0.53720	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.05580	3.42;3.86	5.48	5.48	0.80851	.	0.106801	0.64402	D	0.000003	T	0.13286	0.0322	N	0.22421	0.69	0.80722	D	1	D;P	0.61697	0.99;0.948	D;B	0.72982	0.979;0.404	T	0.21793	-1.0235	9	.	.	.	.	14.431	0.67251	0.0:0.0:0.0:1.0	.	650;650	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	T	650	ENSP00000277225:S650T;ENSP00000414570:S650T	.	S	+	1	0	ZNF462	108727962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.853000	0.39358	2.205000	0.71048	0.528000	0.53228	TCT		0.463	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224	
