#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
INTS1	26173	hgsc.bcm.edu	37	7	1522333	1522333	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr7:1522333G>A	ENST00000404767.3	-	27	3637	c.3552C>T	c.(3550-3552)agC>agT	p.S1184S	INTS1_ENST00000389470.4_Silent_p.S1346S	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1184					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCTGGAACTCGCTGTCGTCGG	0.647																																																	0			7											52.0	61.0	58.0					7																	1522333		2069	4205	6274	1488859	SO:0001819	synonymous_variant	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.3552C>T	7.37:g.1522333G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1488859	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Silent	SNP	ENST00000404767.3	37	CCDS47526.1																																																																																				INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1		
AKAP9	10142	hgsc.bcm.edu	37	7	91726301	91726301	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr7:91726301A>G	ENST00000359028.2	+	41	10265	c.10040A>G	c.(10039-10041)gAc>gGc	p.D3347G	AKAP9_ENST00000358100.2_Missense_Mutation_p.D3293G|AKAP9_ENST00000356239.3_Missense_Mutation_p.D3343G			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3347					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCCTCAGAGGACCTACTGAAA	0.468			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0			7											60.0	62.0	61.0					7																	91726301		2203	4300	6503	91564237	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.10040A>G	7.37:g.91726301A>G	ENSP00000351922:p.Asp3347Gly	Somatic		Capture	Illumina HiSeq	Phase_I	91564237	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	A	7.484	0.649353	0.14516	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03496	4.0;4.0;4.0;3.91	5.04	5.04	0.67666	.	0.497819	0.16965	N	0.192356	T	0.07503	0.0189	M	0.70595	2.14	0.33799	D	0.626454	P;P;P;P;P	0.42692	0.611;0.787;0.501;0.634;0.634	B;B;B;B;B	0.38803	0.282;0.23;0.058;0.124;0.124	T	0.15122	-1.0448	10	0.49607	T	0.09	.	15.2346	0.73419	1.0:0.0:0.0:0.0	.	618;3347;3347;3343;3335	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	G	3343;3347;3293;3347;1189	ENSP00000348573:D3343G;ENSP00000351922:D3347G;ENSP00000350813:D3293G;ENSP00000378042:D1189G	ENSP00000348573:D3343G	D	+	2	0	AKAP9	91564237	1.000000	0.71417	0.979000	0.43373	0.195000	0.23768	4.109000	0.57824	2.240000	0.73641	0.533000	0.62120	GAC		AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751	
TRRAP	8295	hgsc.bcm.edu	37	7	98547744	98547744	+	Silent	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr7:98547744T>C	ENST00000359863.4	+	37	5381	c.5172T>C	c.(5170-5172)cgT>cgC	p.R1724R	TRRAP_ENST00000446306.3_Silent_p.R1705R|TRRAP_ENST00000355540.3_Silent_p.R1706R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1724			R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTACTGGTCGTTTTCTCTGCA	0.418																																																	0			7											112.0	109.0	110.0					7																	98547744		2203	4300	6503	98385680	SO:0001819	synonymous_variant	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5172T>C	7.37:g.98547744T>C		Somatic		Capture	Illumina HiSeq	Phase_I	98385680	A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.360886	0.24684	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.7	1.86	0.25419	.	.	.	.	.	T	0.53384	0.1793	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39800	-0.9596	4	.	.	.	.	5.7953	0.18383	0.1186:0.3345:0.0:0.5468	.	.	.	.	A	1446	.	.	V	+	2	0	TRRAP	98385680	0.882000	0.30256	0.998000	0.56505	0.997000	0.91878	-0.005000	0.12855	0.078000	0.16900	0.459000	0.35465	GTT		TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
ZNF277	11179	hgsc.bcm.edu	37	7	111936290	111936290	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr7:111936290A>G	ENST00000361822.3	+	4	518	c.389A>G	c.(388-390)cAa>cGa	p.Q130R	ZNF277_ENST00000450657.1_Missense_Mutation_p.Q130R	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	130					cellular response to hydrogen peroxide (GO:0070301)|regulation of cellular senescence (GO:2000772)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ACAGAAGAACAAGAGAATTAT	0.313																																																	0			7											57.0	62.0	60.0					7																	111936290		2198	4283	6481	111723526	SO:0001583	missense	11179			AF209198	CCDS5755.2	7q31.1	2012-10-05	2007-10-23	2007-10-23	ENSG00000198839	ENSG00000198839			13070	protein-coding gene	gene with protein product		605465	"""zinc finger protein (C2H2 type) 277"", ""zinc finger protein 277 pseudogene"""	ZNF277P		10860669, 16213364, 16395595	Standard	NM_021994		Approved	NRIF4	uc003vge.2	Q9NRM2	OTTHUMG00000150209	ENST00000361822.3:c.389A>G	7.37:g.111936290A>G	ENSP00000354501:p.Gln130Arg	Somatic		Capture	Illumina HiSeq	Phase_I	111723526	Q75MZ2|Q75MZ3|Q8WY14	Missense_Mutation	SNP	ENST00000361822.3	37	CCDS5755.2	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972404	0.53614	.	.	ENSG00000198839	ENST00000361822;ENST00000450657	T;T	0.31769	1.49;1.48	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.49406	0.1555	M	0.72479	2.2	0.80722	D	1	D;D	0.57257	0.979;0.96	P;P	0.54270	0.747;0.51	T	0.49643	-0.8918	10	0.56958	D	0.05	-19.3218	16.8222	0.85835	1.0:0.0:0.0:0.0	.	130;130	Q9NRM2;G5E9M4	ZN277_HUMAN;.	R	130	ENSP00000354501:Q130R;ENSP00000402292:Q130R	ENSP00000354501:Q130R	Q	+	2	0	ZNF277	111723526	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.371000	0.80710	0.533000	0.62120	CAA		ZNF277-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316843.2	NM_021994	
KIAA1549	57670	hgsc.bcm.edu	37	7	138596010	138596010	+	Silent	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr7:138596010C>A	ENST00000422774.1	-	4	3075	c.3027G>T	c.(3025-3027)acG>acT	p.T1009T	KIAA1549_ENST00000440172.1_Silent_p.T1009T|KIAA1549_ENST00000242365.4_Silent_p.T959T			Q9HCM3	K1549_HUMAN	KIAA1549	1009						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CGGATATTGCCGTGTAAACGA	0.393			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)			Dom	yes		7	7q34	57670	KIAA1549		O	0			7											70.0	68.0	69.0					7																	138596010		1870	4101	5971	138246550	SO:0001819	synonymous_variant	57670				CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3027G>T	7.37:g.138596010C>A		Somatic		Capture	Illumina HiSeq	Phase_I	138246550	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	CCDS56513.1																																																																																				KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
KRBA1	84626	hgsc.bcm.edu	37	7	149423067	149423067	+	Missense_Mutation	SNP	A	A	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr7:149423067A>C	ENST00000485033.2	+	10	1390	c.1390A>C	c.(1390-1392)Acc>Ccc	p.T464P	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000319551.8_Missense_Mutation_p.T464P|KRBA1_ENST00000255992.10_Missense_Mutation_p.T464P			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	522										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAACCCCCACCAGCTTCTC	0.637																																																	0			7											25.0	28.0	27.0					7																	149423067		1864	4105	5969	149054000	SO:0001583	missense	84626			AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1390A>C	7.37:g.149423067A>C	ENSP00000420112:p.Thr464Pro	Somatic		Capture	Illumina HiSeq	Phase_I	149054000	A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37		.	.	.	.	.	.	.	.	.	.	A	6.602	0.479526	0.12581	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.35236	1.32;1.32;1.32	5.18	-2.3	0.06785	.	0.799813	0.10934	N	0.618074	T	0.15392	0.0371	N	0.12746	0.255	0.09310	N	1	B;B	0.18013	0.025;0.025	B;B	0.19946	0.027;0.027	T	0.17930	-1.0353	10	0.36615	T	0.2	-5.0205	1.1979	0.01878	0.3353:0.2774:0.0873:0.3001	.	464;464	E7ENE9;A5PL33	.;KRBA1_HUMAN	P	464	ENSP00000255992:T464P;ENSP00000317165:T464P;ENSP00000420112:T464P	ENSP00000255992:T464P	T	+	1	0	KRBA1	149054000	0.875000	0.30112	0.030000	0.17652	0.359000	0.29487	0.039000	0.13884	-0.708000	0.05015	-0.438000	0.05819	ACC		KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534	
CRNKL1	51340	hgsc.bcm.edu	37	20	20022260	20022260	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr20:20022260T>C	ENST00000377340.2	-	10	1688	c.1657A>G	c.(1657-1659)Agg>Ggg	p.R553G	CRNKL1_ENST00000536226.1_Missense_Mutation_p.R392G|CRNKL1_ENST00000377327.4_Missense_Mutation_p.R541G	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	553	Mediates interaction with HSP90. {ECO:0000250|UniProtKB:P63154}.				mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TGTCTTGTCCTCTCAGGATCC	0.343																																																	0			20											103.0	98.0	100.0					20																	20022260		2203	4300	6503	19970260	SO:0001583	missense	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.1657A>G	20.37:g.20022260T>C	ENSP00000366557:p.Arg553Gly	Somatic		Capture	Illumina HiSeq	Phase_I	19970260	A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	ENST00000377340.2	37	CCDS33446.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.235301	0.58886	.	.	ENSG00000101343	ENST00000377327;ENST00000377340;ENST00000536226	T;T;T	0.35973	1.28;1.28;1.28	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.082885	0.85682	N	0.000000	T	0.53384	0.1793	M	0.90977	3.165	0.80722	D	1	P	0.46621	0.881	P	0.45856	0.495	T	0.65475	-0.6159	10	0.87932	D	0	-14.7932	12.406	0.55441	0.0:0.0:0.1789:0.8211	.	553	Q9BZJ0	CRNL1_HUMAN	G	541;553;392	ENSP00000366544:R541G;ENSP00000366557:R553G;ENSP00000440733:R392G	ENSP00000366544:R541G	R	-	1	2	CRNKL1	19970260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.291000	0.65667	2.216000	0.71823	0.533000	0.62120	AGG		CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
RBM12	10137	hgsc.bcm.edu	37	20	34240764	34240764	+	Silent	SNP	A	A	G	rs201125389		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr20:34240764A>G	ENST00000374114.3	-	3	2744	c.2481T>C	c.(2479-2481)ccT>ccC	p.P827P	CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Silent_p.P827P|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.P827P|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	827	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			ggccggggccaggCCCAAAAG	0.627																																																	0			20											12.0	14.0	13.0					20																	34240764		2147	4263	6410	33704178	SO:0001819	synonymous_variant	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2481T>C	20.37:g.34240764A>G		Somatic		Capture	Illumina HiSeq	Phase_I	33704178	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	CCDS13261.1																																																																																				RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047	
RBM12	10137	hgsc.bcm.edu	37	20	34240767	34240767	+	Silent	SNP	C	C	G	rs202158484	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr20:34240767C>G	ENST00000374114.3	-	3	2741	c.2478G>C	c.(2476-2478)ggG>ggC	p.G826G	CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|CPNE1_ENST00000317677.5_Intron|RBM12_ENST00000374104.3_Silent_p.G826G|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397446.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Silent_p.G826G|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	826	Gly-rich.|Pro-rich.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			cggggccaggCCCAAAAGCTG	0.622																																																	0			20											12.0	14.0	13.0					20																	34240767		2148	4263	6411	33704181	SO:0001819	synonymous_variant	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2478G>C	20.37:g.34240767C>G		Somatic		Capture	Illumina HiSeq	Phase_I	33704181	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Silent	SNP	ENST00000374114.3	37	CCDS13261.1																																																																																				RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047	
RBM39	9584	hgsc.bcm.edu	37	20	34312639	34312639	+	Silent	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr20:34312639T>C	ENST00000253363.6	-	8	563	c.540A>G	c.(538-540)cgA>cgG	p.R180R	RBM39_ENST00000528062.3_Silent_p.R158R|RBM39_ENST00000361162.6_Silent_p.R180R|RBM39_ENST00000407261.4_Silent_p.R23R			Q14498	RBM39_HUMAN	RNA binding motif protein 39	180	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					TCCTCACATCTCGAACCTAGA	0.368																																																	0			20											99.0	93.0	95.0					20																	34312639		2203	4300	6503	33776053	SO:0001819	synonymous_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.540A>G	20.37:g.34312639T>C		Somatic		Capture	Illumina HiSeq	Phase_I	33776053	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Silent	SNP	ENST00000253363.6	37	CCDS13266.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.394321	0.25205	.	.	ENSG00000131051	ENST00000448303	T	0.16597	2.33	5.36	-3.6	0.04570	.	0.054147	0.64402	D	0.000001	T	0.20047	0.0482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09930	-1.0652	7	0.87932	D	0	.	4.9901	0.14209	0.5845:0.0662:0.0838:0.2656	.	.	.	.	G	53	ENSP00000394824:R53G	ENSP00000394824:R53G	R	-	1	2	RBM39	33776053	0.997000	0.39634	0.996000	0.52242	0.944000	0.59088	0.401000	0.20948	-0.253000	0.09514	0.456000	0.33151	AGA		RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2	NM_184237	
SLC12A5	57468	hgsc.bcm.edu	37	20	44673751	44673751	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr20:44673751C>T	ENST00000454036.2	+	12	1659	c.1610C>T	c.(1609-1611)tCg>tTg	p.S537L	SLC12A5_ENST00000243964.3_Missense_Mutation_p.S514L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	537					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGGCCATCTCGAGGGATGGC	0.622																																																	0			20											69.0	70.0	70.0					20																	44673751		2203	4300	6503	44107158	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1610C>T	20.37:g.44673751C>T	ENSP00000387694:p.Ser537Leu	Somatic		Capture	Illumina HiSeq	Phase_I	44107158	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757435	0.69648	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98996	-5.31;-5.31	4.32	4.32	0.51571	Amino acid permease domain (1);	0.243089	0.33364	N	0.004991	D	0.97564	0.9202	L	0.55103	1.725	0.80722	D	1	P;B	0.35363	0.497;0.035	B;B	0.33568	0.166;0.017	D	0.98922	1.0784	10	0.87932	D	0	.	15.5478	0.76123	0.0:1.0:0.0:0.0	.	537;514	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	L	537;514	ENSP00000387694:S537L;ENSP00000243964:S514L	ENSP00000243964:S514L	S	+	2	0	SLC12A5	44107158	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.304000	0.78882	2.225000	0.72522	0.313000	0.20887	TCG		SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
SMC1B	27127	hgsc.bcm.edu	37	22	45789613	45789613	+	Silent	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr22:45789613A>G	ENST00000357450.4	-	9	1445	c.1446T>C	c.(1444-1446)agT>agC	p.S482S	SMC1B_ENST00000404354.3_Silent_p.S482S	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	482					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTGCAATTCACTTCTAATAA	0.373																																																	0			22											121.0	108.0	112.0					22																	45789613		1838	4085	5923	44168277	SO:0001819	synonymous_variant	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1446T>C	22.37:g.45789613A>G		Somatic		Capture	Illumina HiSeq	Phase_I	44168277	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Silent	SNP	ENST00000357450.4	37	CCDS43027.1																																																																																				SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674	
RNASE11	122651	hgsc.bcm.edu	37	14	21052115	21052115	+	Silent	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr14:21052115A>G	ENST00000610205.1	-	3	702	c.519T>C	c.(517-519)agT>agC	p.S173S	RNASE11_ENST00000553849.1_Silent_p.S173S|RNASE11_ENST00000555841.1_Silent_p.S173S|RNASE11_ENST00000398008.2_Silent_p.S173S|RNASE11_ENST00000432835.2_Silent_p.S173S|RNASE11_ENST00000398009.2_Silent_p.S173S	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	173						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		ATGAGGTAACACTATGGTATT	0.443																																																	0			14											105.0	88.0	94.0					14																	21052115		2203	4300	6503	20121955	SO:0001819	synonymous_variant	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.519T>C	14.37:g.21052115A>G		Somatic		Capture	Illumina HiSeq	Phase_I	20121955		Silent	SNP	ENST00000610205.1	37	CCDS9553.1																																																																																				RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3	NM_145250	
MDGA2	161357	hgsc.bcm.edu	37	14	47530637	47530637	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr14:47530637C>T	ENST00000399232.2	-	7	1497	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	MDGA2_ENST00000426342.1_Missense_Mutation_p.R149H|MDGA2_ENST00000357362.3_Missense_Mutation_p.R149H|MDGA2_ENST00000439988.3_Missense_Mutation_p.R447H	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	378	Ig-like 4.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTTAATGGACGACCATTTTT	0.408																																																	0			14											142.0	127.0	132.0					14																	47530637		1885	4110	5995	46600387	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1133G>A	14.37:g.47530637C>T	ENSP00000382178:p.Arg378His	Somatic		Capture	Illumina HiSeq	Phase_I	46600387	F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37		.	.	.	.	.	.	.	.	.	.	C	27.2	4.805483	0.90623	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27	5.86	5.86	0.93980	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.48286	U	0.000185	T	0.78000	0.4215	L	0.48935	1.535	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.76838	-0.2811	10	0.51188	T	0.08	.	18.7657	0.91871	0.0:1.0:0.0:0.0	.	378	Q7Z553	MDGA2_HUMAN	H	378;149;447;149	ENSP00000400011:R378H;ENSP00000405456:R149H;ENSP00000382178:R447H;ENSP00000349925:R149H	ENSP00000349925:R149H	R	-	2	0	MDGA2	46600387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.770000	0.85390	2.776000	0.95493	0.655000	0.94253	CGT		MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830	
FCF1	51077	hgsc.bcm.edu	37	14	75200824	75200824	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr14:75200824A>G	ENST00000341162.4	+	7	553	c.499A>G	c.(499-501)Aga>Gga	p.R167G	FCF1_ENST00000553615.1_Missense_Mutation_p.R152G|FCF1_ENST00000534938.2_Missense_Mutation_p.R155G	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	167					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		CCTGAAAAGAAGAATCCGTAA	0.403																																																	0			14											119.0	94.0	103.0					14																	75200824		2203	4300	6503	74270577	SO:0001583	missense	51077			AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.499A>G	14.37:g.75200824A>G	ENSP00000344393:p.Arg167Gly	Somatic		Capture	Illumina HiSeq	Phase_I	74270577	Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438731	0.83885	.	.	ENSG00000119616	ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.86226	0.5882	H	0.94306	3.52	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.74348	0.983;0.962	D	0.90109	0.4190	9	0.72032	D	0.01	.	15.1543	0.72726	1.0:0.0:0.0:0.0	.	167;152	Q9Y324;G3V5S9	FCF1_HUMAN;.	G	167;155;152	.	ENSP00000344393:R167G	R	+	1	2	FCF1	74270577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.532000	0.67154	2.119000	0.64992	0.533000	0.62120	AGA		FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962	
KCNK13	56659	hgsc.bcm.edu	37	14	90651019	90651019	+	Missense_Mutation	SNP	C	C	T	rs369202821		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr14:90651019C>T	ENST00000282146.4	+	2	1340	c.899C>T	c.(898-900)cCg>cTg	p.P300L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	300					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGGTGCTGCCCGCAATGCCAG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20510	0.0		0.001	False		,,,				2504	0.0																0			14						C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	72.0	78.0	76.0		899	-9.4	0.0	14		76	0,8600		0,0,4300	no	missense	KCNK13	NM_022054.2	98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	300/409	90651019	1,13005	2203	4300	6503	89720772	SO:0001583	missense	56659			AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.899C>T	14.37:g.90651019C>T	ENSP00000282146:p.Pro300Leu	Somatic		Capture	Illumina HiSeq	Phase_I	89720772	B5TJL8|Q96E79	Missense_Mutation	SNP	ENST00000282146.4	37	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	C	3.611	-0.079617	0.07141	2.27E-4	0.0	ENSG00000152315	ENST00000282146	T	0.11385	2.78	4.7	-9.39	0.00619	.	1.809910	0.03410	N	0.204657	T	0.07052	0.0179	L	0.29908	0.895	0.25356	N	0.988823	B	0.20368	0.044	B	0.15870	0.014	T	0.14117	-1.0484	10	0.27785	T	0.31	.	8.7398	0.34550	0.3889:0.2149:0.3962:0.0	.	300	Q9HB14	KCNKD_HUMAN	L	300	ENSP00000282146:P300L	ENSP00000282146:P300L	P	+	2	0	KCNK13	89720772	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-0.470000	0.06639	-2.445000	0.00547	-0.181000	0.13052	CCG		KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	NM_022054	
UNC79	57578	hgsc.bcm.edu	37	14	94088768	94088768	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr14:94088768A>T	ENST00000393151.2	+	30	5189	c.5189A>T	c.(5188-5190)gAg>gTg	p.E1730V	UNC79_ENST00000256339.4_Missense_Mutation_p.E1553V|UNC79_ENST00000555664.1_Missense_Mutation_p.E1730V|UNC79_ENST00000553484.1_Missense_Mutation_p.E1752V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1730					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCAAAGCCAGAGGAGCTGCCA	0.532																																																	0			14											67.0	71.0	70.0					14																	94088768		2203	4300	6503	93158521	SO:0001583	missense	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5189A>T	14.37:g.94088768A>T	ENSP00000376858:p.Glu1730Val	Somatic		Capture	Illumina HiSeq	Phase_I	93158521	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	A	4.465	0.086224	0.08583	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.20738	2.07;2.05;2.07;2.07	5.2	2.87	0.33458	.	0.224351	0.45361	D	0.000376	T	0.12178	0.0296	N	0.19112	0.55	0.29907	N	0.823938	B	0.30973	0.302	B	0.32289	0.143	T	0.11966	-1.0566	10	0.32370	T	0.25	-13.908	7.435	0.27150	0.6874:0.0:0.3126:0.0	.	1752	C9JQL1	.	V	1553;1730;1752;1730;1752	ENSP00000256339:E1553V;ENSP00000450868:E1730V;ENSP00000451360:E1752V;ENSP00000376858:E1730V	ENSP00000256339:E1553V	E	+	2	0	KIAA1409	93158521	1.000000	0.71417	0.623000	0.29173	0.102000	0.19082	1.374000	0.34283	0.825000	0.34637	0.254000	0.18369	GAG		UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
PPP2R5C	5527	hgsc.bcm.edu	37	14	102368208	102368208	+	Silent	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr14:102368208C>T	ENST00000334743.5	+	9	1053	c.1005C>T	c.(1003-1005)gtC>gtT	p.V335V	PPP2R5C_ENST00000328724.5_Silent_p.V390V|PPP2R5C_ENST00000422945.2_Silent_p.V366V|PPP2R5C_ENST00000557095.1_Silent_p.V335V|PPP2R5C_ENST00000445439.3_Silent_p.V335V|PPP2R5C_ENST00000350249.3_Silent_p.V335V	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	335					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CCAAATGTGTCTCCAGCCCAC	0.448																																																	0			14											57.0	61.0	60.0					14																	102368208		2203	4300	6503	101437961	SO:0001819	synonymous_variant	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1005C>T	14.37:g.102368208C>T		Somatic		Capture	Illumina HiSeq	Phase_I	101437961	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Silent	SNP	ENST00000334743.5	37	CCDS9964.1																																																																																				PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719	
PLIN4	729359	hgsc.bcm.edu	37	19	4512324	4512324	+	Missense_Mutation	SNP	C	C	T	rs200529034	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:4512324C>T	ENST00000301286.3	-	3	1605	c.1606G>A	c.(1606-1608)Gtc>Atc	p.V536I		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	536	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CCCCCCTGGACGGCCCCTTTG	0.622													C|||	6	0.00119808	0.0045	0.0	5008	,	,		21464	0.0		0.0	False		,,,				2504	0.0																0			19						C	ILE/VAL	17,3887		0,17,1935	77.0	85.0	82.0		1606	2.0	0.0	19		82	5,8245		0,5,4120	yes	missense	PLIN4	NM_001080400.1	29	0,22,6055	TT,TC,CC		0.0606,0.4355,0.181	benign	536/1358	4512324	22,12132	1952	4125	6077	4463324	SO:0001583	missense	0			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1606G>A	19.37:g.4512324C>T	ENSP00000301286:p.Val536Ile	Somatic		Capture	Illumina HiSeq	Phase_I	4463324	A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	CCDS45927.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	12.12	1.842785	0.32606	0.004355	6.06E-4	ENSG00000167676	ENST00000301286	T	0.05382	3.45	5.42	1.95	0.26073	.	0.156335	0.29369	N	0.012345	T	0.04634	0.0126	L	0.52126	1.63	0.09310	N	1	B	0.23735	0.09	B	0.17098	0.017	T	0.41142	-0.9525	10	0.10377	T	0.69	-12.2784	2.9559	0.05876	0.144:0.5564:0.1399:0.1597	.	536	Q96Q06	PLIN4_HUMAN	I	536	ENSP00000301286:V536I	ENSP00000301286:V536I	V	-	1	0	PLIN4	4463324	0.000000	0.05858	0.007000	0.13788	0.002000	0.02628	0.159000	0.16442	0.669000	0.31146	-0.266000	0.10368	GTC		PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
GADD45GIP1	90480	hgsc.bcm.edu	37	19	13065203	13065203	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:13065203A>G	ENST00000316939.1	-	2	511	c.488T>C	c.(487-489)cTc>cCc	p.L163P		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	163					cell cycle (GO:0007049)|viral process (GO:0016032)	mitochondrion (GO:0005739)|nucleus (GO:0005634)				ovary(2)|prostate(1)|skin(1)	4						GTAGCCCAGGAGCTCCTGGGC	0.612																																																	0			19											65.0	68.0	67.0					19																	13065203		2203	4300	6503	12926203	SO:0001583	missense	90480			AF479749	CCDS12290.1	19p13.2	2014-02-12				ENSG00000179271			29996	protein-coding gene	gene with protein product	"""papillomavirus L2 interacting nuclear protein 1"", ""CKII beta binding protein 2"", ""CR6 interacting factor 1"", ""p53-responsive gene 6"""	605162				10441517, 12482659	Standard	NM_052850		Approved	PLINP-1, MGC4667, MGC4758, CKBBP2, PRG6, Plinp1, CRIF1, CKbetaBP2	uc002mwb.4	Q8TAE8		ENST00000316939.1:c.488T>C	19.37:g.13065203A>G	ENSP00000323065:p.Leu163Pro	Somatic		Capture	Illumina HiSeq	Phase_I	12926203	Q8IVM3|Q8TE51|Q969P9|Q9BSM6	Missense_Mutation	SNP	ENST00000316939.1	37	CCDS12290.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005444	0.35415	.	.	ENSG00000179271	ENST00000316939	.	.	.	5.02	1.23	0.21249	.	0.366329	0.23842	N	0.044034	T	0.21145	0.0509	N	0.08118	0	0.40449	D	0.980121	B	0.32939	0.391	B	0.28991	0.097	T	0.05582	-1.0876	9	0.62326	D	0.03	-12.5409	4.1128	0.10067	0.175:0.5209:0.0:0.3042	.	163	Q8TAE8	G45IP_HUMAN	P	163	.	ENSP00000323065:L163P	L	-	2	0	GADD45GIP1	12926203	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	1.486000	0.35530	0.503000	0.28060	-0.295000	0.09555	CTC		GADD45GIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452759.2	NM_052850	
CYP2A7	1549	hgsc.bcm.edu	37	19	41383249	41383249	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:41383249C>A	ENST00000301146.4	-	7	1548	c.1007G>T	c.(1006-1008)gGc>gTc	p.G336V	CYP2A7_ENST00000291764.3_Missense_Mutation_p.G285V|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	336						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.G336A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCGGTTCTTGCCGATCACTCT	0.522																																																	1	Substitution - Missense(1)	ovary(1)	19											94.0	79.0	84.0					19																	41383249		2203	4298	6501	46075089	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.1007G>T	19.37:g.41383249C>A	ENSP00000301146:p.Gly336Val	Somatic		Capture	Illumina HiSeq	Phase_I	46075089	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868736	0.51588	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.18016	4.61;2.24	2.18	2.18	0.27775	.	0.131674	0.50627	U	0.000112	T	0.50326	0.1609	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.77557	0.99;0.976;0.969	T	0.64901	-0.6298	10	0.87932	D	0	.	11.4495	0.50145	0.0:1.0:0.0:0.0	.	336;285;336	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	V	336;285	ENSP00000301146:G336V;ENSP00000291764:G285V	ENSP00000291764:G285V	G	-	2	0	CYP2A7	46075089	0.998000	0.40836	0.117000	0.21633	0.656000	0.38851	5.118000	0.64673	1.215000	0.43411	0.184000	0.17185	GGC		CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589	
CEACAM8	1088	hgsc.bcm.edu	37	19	43097788	43097788	+	Missense_Mutation	SNP	C	C	T	rs45440298	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:43097788C>T	ENST00000244336.5	-	2	430	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	110	Ig-like V-type.				immune response (GO:0006955)	anchored component of membrane (GO:0031225)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GGTGACGTTCCGCATCAGCAG	0.443													.|||	2	0.000399361	0.0015	0.0	5008	,	,		23841	0.0		0.0	False		,,,				2504	0.0																0			19						C	GLN/ARG	34,4372	39.2+/-71.8	0,34,2169	302.0	274.0	283.0		329	-1.9	0.0	19	dbSNP_127	283	0,8600		0,0,4300	yes	missense	CEACAM8	NM_001816.3	43	0,34,6469	TT,TC,CC		0.0,0.7717,0.2614	benign	110/350	43097788	34,12972	2203	4300	6503	47789628	SO:0001583	missense	1088			D90064	CCDS12610.1	19q13.2	2013-01-29			ENSG00000124469	ENSG00000124469		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1820	protein-coding gene	gene with protein product		615747		CGM6		2208113, 2306228	Standard	NM_001816		Approved	CD66b	uc002oud.2	P31997	OTTHUMG00000151124	ENST00000244336.5:c.329G>A	19.37:g.43097788C>T	ENSP00000244336:p.Arg110Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47789628	O60399|Q16574	Missense_Mutation	SNP	ENST00000244336.5	37	CCDS12610.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	0.017	-1.510913	0.00984	0.007717	0.0	ENSG00000124469	ENST00000244336	T	0.63096	-0.02	1.87	-1.87	0.07737	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13157	0.0319	N	0.00377	-1.585	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28170	-1.0052	9	0.02654	T	1	.	5.9523	0.19253	0.0:0.5434:0.0:0.4566	rs45440298	110	P31997	CEAM8_HUMAN	Q	110	ENSP00000244336:R110Q	ENSP00000244336:R110Q	R	-	2	0	CEACAM8	47789628	0.007000	0.16637	0.003000	0.11579	0.167000	0.22549	-0.142000	0.10311	-0.614000	0.05687	-0.752000	0.03492	CGG		CEACAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321430.1		
PLAUR	5329	hgsc.bcm.edu	37	19	44171781	44171781	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:44171781C>A	ENST00000340093.3	-	2	347	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S	PLAUR_ENST00000221264.4_Missense_Mutation_p.A40S|PLAUR_ENST00000601723.1_Missense_Mutation_p.A40S|PLAUR_ENST00000339082.3_Missense_Mutation_p.A40S	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	40	UPAR/Ly6 1.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TGTCCCAGGGCGCACTCTTCC	0.627																																																	0			19											124.0	95.0	105.0					19																	44171781		2203	4300	6503	48863621	SO:0001583	missense	5329				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.118G>T	19.37:g.44171781C>A	ENSP00000339328:p.Ala40Ser	Somatic		Capture	Illumina HiSeq	Phase_I	48863621	A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816304	0.70912	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.69306	-0.39;-0.39;-0.39	4.84	-5.3	0.02738	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	1.117940	0.07006	N	0.824297	T	0.57548	0.2061	M	0.63843	1.955	0.09310	N	1	B;B;B;B	0.28801	0.223;0.004;0.004;0.097	B;B;B;B	0.31547	0.06;0.018;0.018;0.132	T	0.57154	-0.7860	10	0.62326	D	0.03	-3.7332	4.2334	0.10615	0.1223:0.2472:0.4749:0.1556	.	40;40;40;40	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	S	40	ENSP00000342049:A40S;ENSP00000339328:A40S;ENSP00000221264:A40S	ENSP00000221264:A40S	A	-	1	0	PLAUR	48863621	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-1.180000	0.03088	-0.431000	0.07307	-0.305000	0.09177	GCC		PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659	
DHX34	9704	hgsc.bcm.edu	37	19	47858534	47858534	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:47858534A>G	ENST00000328771.4	+	3	1293	c.944A>G	c.(943-945)aAc>aGc	p.N315S		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	315	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GCCACCATCAACATCTCGCTC	0.597																																																	0			19											162.0	145.0	151.0					19																	47858534		2203	4300	6503	52550374	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.944A>G	19.37:g.47858534A>G	ENSP00000331907:p.Asn315Ser	Somatic		Capture	Illumina HiSeq	Phase_I	52550374	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.116371	0.77323	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.23552	1.9	4.41	4.41	0.53225	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.64402	D	0.000011	T	0.51805	0.1696	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	T	0.58092	-0.7697	10	0.72032	D	0.01	-1.5859	12.6586	0.56801	1.0:0.0:0.0:0.0	.	315;315	Q14147;B4E3G3	DHX34_HUMAN;.	S	315	ENSP00000331907:N315S	ENSP00000257252:N315S	N	+	2	0	DHX34	52550374	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.853000	0.92222	1.635000	0.50512	0.374000	0.22700	AAC		DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681	
CPT1C	126129	hgsc.bcm.edu	37	19	50212032	50212032	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:50212032G>A	ENST00000392518.4	+	14	1874	c.1502G>A	c.(1501-1503)tGc>tAc	p.C501Y	CPT1C_ENST00000598293.1_Missense_Mutation_p.C501Y|CPT1C_ENST00000405931.2_Missense_Mutation_p.C490Y|CPT1C_ENST00000323446.5_Missense_Mutation_p.C501Y|CPT1C_ENST00000354199.5_Missense_Mutation_p.C501Y	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	501					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GACGGCCACTGCAAGGGGCAC	0.607																																																	0			19											109.0	101.0	104.0					19																	50212032		2203	4300	6503	54903844	SO:0001583	missense	126129			AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.1502G>A	19.37:g.50212032G>A	ENSP00000376303:p.Cys501Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	54903844	A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196177	0.78902	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446;ENST00000295404	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.42	4.42	0.53409	.	0.000000	0.53938	D	0.000057	D	0.93028	0.7781	M	0.64997	1.995	0.52501	D	0.999954	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.987;0.996	D	0.93735	0.7045	10	0.87932	D	0	-29.5414	14.5977	0.68419	0.0:0.0:1.0:0.0	.	372;501;490;501	C9IY45;Q8TCG5-3;Q8TCG5-2;Q8TCG5	.;.;.;CPT1C_HUMAN	Y	501;501;490;501;372	ENSP00000376303:C501Y;ENSP00000346138:C501Y;ENSP00000384465:C490Y;ENSP00000319343:C501Y	ENSP00000295404:C372Y	C	+	2	0	CPT1C	54903844	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.222000	0.95196	2.292000	0.77174	0.456000	0.33151	TGC		CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359	
SIGLEC12	89858	hgsc.bcm.edu	37	19	52004723	52004723	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:52004723T>C	ENST00000291707.3	-	1	320	c.265A>G	c.(265-267)Act>Gct	p.T89A	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	89	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGTCCCGAGTCTCCTCCTGC	0.562																																																	0			19											158.0	137.0	144.0					19																	52004723		2203	4300	6503	56696535	SO:0001583	missense	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.265A>G	19.37:g.52004723T>C	ENSP00000291707:p.Thr89Ala	Somatic		Capture	Illumina HiSeq	Phase_I	56696535	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	14.03	2.413951	0.42817	.	.	ENSG00000254521	ENST00000291707	T	0.64991	-0.13	2.42	-0.0628	0.13779	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.58075	0.2097	M	0.81112	2.525	0.09310	N	1	B	0.28350	0.208	B	0.26202	0.067	T	0.56306	-0.8001	9	0.87932	D	0	.	4.1696	0.10324	0.0:0.4648:0.0:0.5352	.	89	Q96PQ1	SIG12_HUMAN	A	89	ENSP00000291707:T89A	ENSP00000291707:T89A	T	-	1	0	SIGLEC12	56696535	0.000000	0.05858	0.010000	0.14722	0.241000	0.25554	-0.856000	0.04290	0.101000	0.17610	0.325000	0.21440	ACT		SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
VSTM1	284415	hgsc.bcm.edu	37	19	54545034	54545034	+	Splice_Site	SNP	G	G	A	rs148134957	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:54545034G>A	ENST00000338372.2	-	8	765	c.590C>T	c.(589-591)tCg>tTg	p.S197L	VSTM1_ENST00000376626.1_Splice_Site_p.S166L|VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000366170.2_Splice_Site_p.S109L	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	197					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGGACTCACCGAGAGAGATAC	0.458													G|||	4	0.000798722	0.003	0.0	5008	,	,		16791	0.0		0.0	False		,,,				2504	0.0																0			19						G	LEU/SER	35,4371	39.2+/-71.8	0,35,2168	52.0	46.0	48.0		590	0.3	0.7	19	dbSNP_134	48	0,8600		0,0,4300	yes	missense-near-splice	VSTM1	NM_198481.3	145	0,35,6468	AA,AG,GG		0.0,0.7944,0.2691	benign	197/237	54545034	35,12971	2203	4300	6503	59236846	SO:0001630	splice_region_variant	284415			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.591+1C>T	19.37:g.54545034G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59236846	B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	ENST00000338372.2	37	CCDS12872.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	9.384	1.073832	0.20147	0.007944	0.0	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.49139	2.52;6.75;6.5;0.79	2.43	0.27	0.15635	.	.	.	.	.	T	0.11623	0.0283	N	0.11560	0.145	0.58432	D	0.999997	B;P	0.34826	0.238;0.471	B;B	0.15870	0.014;0.014	T	0.15378	-1.0439	9	0.08837	T	0.75	.	4.7104	0.12870	0.3136:0.0:0.6864:0.0	.	166;197	D2DJS4;Q6UX27	.;VSTM1_HUMAN	L	87;197;166;109	ENSP00000409412:S87L;ENSP00000343366:S197L;ENSP00000365813:S166L;ENSP00000444153:S109L	ENSP00000343366:S197L	S	-	2	0	VSTM1	59236846	0.001000	0.12720	0.668000	0.29813	0.082000	0.17680	-0.148000	0.10219	0.157000	0.19338	-0.176000	0.13171	TCG		VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139358.3	NM_198481	Missense_Mutation
ZSCAN5A	79149	hgsc.bcm.edu	37	19	56735071	56735071	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr19:56735071G>A	ENST00000587340.1	-	5	1212	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R173C|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R56C|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R173C|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R27C			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	173					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R173C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCCCCTGGACGCATCTGGTTC	0.612																																																	1	Substitution - Missense(1)	lung(1)	19											68.0	62.0	64.0					19																	56735071		2203	4300	6503	61426883	SO:0001583	missense	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.517C>T	19.37:g.56735071G>A	ENSP00000467631:p.Arg173Cys	Somatic		Capture	Illumina HiSeq	Phase_I	61426883	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	g	6.634	0.485382	0.12641	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06449	3.33;3.3	2.81	-0.726	0.11170	.	.	.	.	.	T	0.03783	0.0107	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.41680	-0.9495	9	0.59425	D	0.04	.	3.0903	0.06291	0.2934:0.2313:0.4753:0.0	.	56;173	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	C	173;56	ENSP00000375593:R173C;ENSP00000254165:R56C	ENSP00000254165:R56C	R	-	1	0	ZSCAN5A	61426883	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.278000	0.08490	-0.051000	0.13334	-0.820000	0.03113	CGT		ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303	
MTUS1	57509	hgsc.bcm.edu	37	8	17612589	17612589	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr8:17612589T>C	ENST00000262102.6	-	2	952	c.728A>G	c.(727-729)tAc>tGc	p.Y243C	MTUS1_ENST00000381869.3_Missense_Mutation_p.Y243C|MTUS1_ENST00000519263.1_Missense_Mutation_p.Y243C|MTUS1_ENST00000381862.3_Missense_Mutation_p.Y243C	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	243					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AAATGCTGTGTAAGTCATGTC	0.408																																																	0			8											187.0	166.0	173.0					8																	17612589		1917	4122	6039	17656869	SO:0001583	missense	57509			AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.728A>G	8.37:g.17612589T>C	ENSP00000262102:p.Tyr243Cys	Somatic		Capture	Illumina HiSeq	Phase_I	17656869	A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.324704	0.41197	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.21543	2.97;3.03;2.97;2.0	4.24	1.8	0.24995	.	0.777691	0.11551	N	0.552821	T	0.24122	0.0584	L	0.29908	0.895	0.09310	N	1	B;D;D	0.65815	0.043;0.995;0.995	B;P;P	0.60415	0.043;0.874;0.874	T	0.11012	-1.0605	9	.	.	.	-0.7227	3.7501	0.08563	0.1873:0.1028:0.0:0.7099	.	243;243;243	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	C	243	ENSP00000371293:Y243C;ENSP00000262102:Y243C;ENSP00000430167:Y243C;ENSP00000371286:Y243C	.	Y	-	2	0	MTUS1	17656869	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.077000	0.11394	0.387000	0.25024	0.533000	0.62120	TAC		MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031	
SH2D4A	63898	hgsc.bcm.edu	37	8	19192310	19192310	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr8:19192310A>G	ENST00000265807.3	+	4	866	c.455A>G	c.(454-456)aAg>aGg	p.K152R	SH2D4A_ENST00000518040.1_Missense_Mutation_p.K107R|SH2D4A_ENST00000519207.1_Missense_Mutation_p.K152R	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	152					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GTGGCAGAAAAGGAGGAACTG	0.468																																																	0			8											98.0	93.0	95.0					8																	19192310		2203	4300	6503	19236590	SO:0001583	missense	63898			AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.455A>G	8.37:g.19192310A>G	ENSP00000265807:p.Lys152Arg	Somatic		Capture	Illumina HiSeq	Phase_I	19236590	B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	A	10.99	1.508150	0.27036	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;T;T;T	0.12672	3.07;2.66;3.07;3.07	5.28	0.0601	0.14334	.	1.068720	0.07144	N	0.847838	T	0.11110	0.0271	L	0.47190	1.495	0.09310	N	1	B;B	0.24823	0.047;0.112	B;B	0.19666	0.016;0.026	T	0.40365	-0.9567	10	0.22109	T	0.4	.	4.4713	0.11714	0.578:0.1604:0.2617:0.0	.	107;152	B4DDR1;Q9H788	.;SH24A_HUMAN	R	152;107;152;138	ENSP00000265807:K152R;ENSP00000429482:K107R;ENSP00000428684:K152R;ENSP00000428048:K138R	ENSP00000265807:K152R	K	+	2	0	SH2D4A	19236590	0.123000	0.22298	0.000000	0.03702	0.001000	0.01503	0.392000	0.20801	-0.219000	0.10003	-0.290000	0.09829	AAG		SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	NM_022071	
TEX15	56154	hgsc.bcm.edu	37	8	30704086	30704086	+	Missense_Mutation	SNP	T	T	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr8:30704086T>G	ENST00000256246.2	-	1	2522	c.2448A>C	c.(2446-2448)gaA>gaC	p.E816D	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	816					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATCCTAGAATTTCTCCATCTT	0.393																																																	0			8											53.0	49.0	50.0					8																	30704086		2203	4297	6500	30823628	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.2448A>C	8.37:g.30704086T>G	ENSP00000256246:p.Glu816Asp	Somatic		Capture	Illumina HiSeq	Phase_I	30823628		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	4.775	0.144110	0.09134	.	.	ENSG00000133863	ENST00000256246	T	0.11277	2.79	5.73	3.31	0.37934	.	0.752485	0.12445	N	0.468270	T	0.06416	0.0165	N	0.19112	0.55	0.09310	N	1	P	0.41848	0.763	B	0.37144	0.242	T	0.32161	-0.9917	10	0.87932	D	0	.	3.7668	0.08626	0.1939:0.1096:0.0:0.6965	.	816	Q9BXT5	TEX15_HUMAN	D	816	ENSP00000256246:E816D	ENSP00000256246:E816D	E	-	3	2	TEX15	30823628	0.115000	0.22152	0.001000	0.08648	0.003000	0.03518	1.700000	0.37815	0.403000	0.25479	0.533000	0.62120	GAA		TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
ADAM2	2515	hgsc.bcm.edu	37	8	39613370	39613370	+	Silent	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr8:39613370T>C	ENST00000265708.4	-	16	1777	c.1674A>G	c.(1672-1674)ccA>ccG	p.P558P	AC136365.1_ENST00000408091.1_RNA|ADAM2_ENST00000347580.4_Silent_p.P539P|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	558	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TAGTGGCTCTTGGAATTTGTA	0.303																																																	0			8											68.0	71.0	70.0					8																	39613370		2202	4299	6501	39732527	SO:0001819	synonymous_variant	2515			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1674A>G	8.37:g.39613370T>C		Somatic		Capture	Illumina HiSeq	Phase_I	39732527	P78326|Q9UQQ8	Silent	SNP	ENST00000265708.4	37	CCDS34884.1																																																																																				ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464	
PRKDC	5591	hgsc.bcm.edu	37	8	48776071	48776071	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr8:48776071A>G	ENST00000314191.2	-	43	5692	c.5636T>C	c.(5635-5637)aTg>aCg	p.M1879T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M1879T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1880					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GCGAGAATACATCACGTCTAG	0.338								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0			8											169.0	166.0	167.0					8																	48776071		1847	4091	5938	48938624	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5636T>C	8.37:g.48776071A>G	ENSP00000313420:p.Met1879Thr	Somatic		Capture	Illumina HiSeq	Phase_I	48938624	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.	.	.	.	.	.	.	.	.	.	A	24.4	4.527173	0.85706	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.30981	1.51;1.51	5.86	5.86	0.93980	NUC194 (1);Armadillo-type fold (1);	0.101148	0.64402	D	0.000003	T	0.49949	0.1587	M	0.71581	2.175	0.51767	D	0.999932	P;P	0.49696	0.927;0.927	P;P	0.54856	0.762;0.762	T	0.52578	-0.8557	10	0.72032	D	0.01	.	16.2668	0.82588	1.0:0.0:0.0:0.0	.	1879;1880	E7EUY0;P78527	.;PRKDC_HUMAN	T	1879	ENSP00000313420:M1879T;ENSP00000345182:M1879T	ENSP00000313420:M1879T	M	-	2	0	PRKDC	48938624	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.910000	0.92685	2.240000	0.73641	0.533000	0.62120	ATG		PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
MMP16	4325	hgsc.bcm.edu	37	8	89209459	89209459	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr8:89209459T>C	ENST00000286614.6	-	2	490	c.209A>G	c.(208-210)cAg>cGg	p.Q70R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	70					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TAGGGCAGACTGCATGGTCTC	0.473																																																	0			8											113.0	90.0	98.0					8																	89209459		2203	4300	6503	89278575	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.209A>G	8.37:g.89209459T>C	ENSP00000286614:p.Gln70Arg	Somatic		Capture	Illumina HiSeq	Phase_I	89278575	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866877	0.51588	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.33865	1.39;1.39	6.08	6.08	0.98989	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.099857	0.64402	D	0.000001	T	0.27629	0.0679	N	0.13003	0.285	0.51012	D	0.999901	P;B	0.37083	0.581;0.046	B;B	0.42245	0.381;0.058	T	0.07616	-1.0763	10	0.11182	T	0.66	.	16.6512	0.85203	0.0:0.0:0.0:1.0	.	70;70	P51512-2;P51512	.;MMP16_HUMAN	R	70;87	ENSP00000286614:Q70R;ENSP00000429147:Q87R	ENSP00000286614:Q70R	Q	-	2	0	MMP16	89278575	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.186000	0.72026	2.333000	0.79357	0.482000	0.46254	CAG		MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941	
PRKCZ	5590	hgsc.bcm.edu	37	1	2082231	2082231	+	Silent	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:2082231C>T	ENST00000400921.2	+	6	824	c.141C>T	c.(139-141)gaC>gaT	p.D47D	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.D47D	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	230	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	CTCCCTAGGACCTTAAGCCAG	0.567																																																	0			1											66.0	60.0	62.0					1																	2082231		2203	4300	6503	2072091	SO:0001819	synonymous_variant	5590			BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.141C>T	1.37:g.2082231C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2072091	A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	37	CCDS41229.1																																																																																				PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744	
SLC2A1	6513	hgsc.bcm.edu	37	1	43392858	43392858	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:43392858A>G	ENST00000426263.3	-	10	1511	c.1333T>C	c.(1333-1335)Ttc>Ctc	p.F445L	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	445					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)	p.F445L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GTGAAGATGAAGAACAGAACC	0.517																																																	1	Substitution - Missense(1)	ovary(1)	1											86.0	68.0	74.0					1																	43392858		2203	4300	6503	43165445	SO:0001583	missense	6513			K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.1333T>C	1.37:g.43392858A>G	ENSP00000416293:p.Phe445Leu	Somatic		Capture	Illumina HiSeq	Phase_I	43165445	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	A	10.45	1.354426	0.24512	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019	T	0.73789	-0.78	5.66	5.66	0.87406	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63236	0.2494	L	0.31294	0.92	0.80722	D	1	B	0.14012	0.009	B	0.17979	0.02	T	0.58142	-0.7688	10	0.22706	T	0.39	.	13.8441	0.63457	1.0:0.0:0.0:0.0	.	445	P11166	GTR1_HUMAN	L	445;445;387	ENSP00000416293:F445L	ENSP00000361579:F445L	F	-	1	0	SLC2A1	43165445	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.978000	0.70501	2.166000	0.68216	0.454000	0.30748	TTC		SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020358.2	NM_006516	
MPL	4352	hgsc.bcm.edu	37	1	43805059	43805059	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:43805059G>A	ENST00000372470.3	+	4	551	c.509G>A	c.(508-510)cGc>cAc	p.R170H	MPL_ENST00000413998.2_Missense_Mutation_p.R170H	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	MPL proto-oncogene, thrombopoietin receptor	170					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|platelet activation (GO:0030168)|regulation of chemokine production (GO:0032642)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			Eltrombopag(DB06210)|Romiplostim(DB05332)	TACGAACTCCGCTATGGCCCC	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia																														NSCLC(52;534 1204 10016 41452 44427)		yes	Dom	yes	Familial essential thrombocythemia	1	p34	4352	"""myeloproliferative leukemia virus oncogene, thrombopoietin receptor"""	yes	L	0			1											80.0	73.0	75.0					1																	43805059		2203	4300	6503	43577646	SO:0001583	missense	4352			M90102	CCDS483.1	1p34	2014-09-17	2014-06-26		ENSG00000117400	ENSG00000117400		"""CD molecules"", ""Fibronectin type III domain containing"""	7217	protein-coding gene	gene with protein product		159530	"""myeloproliferative leukemia virus oncogene"""			1608974	Standard	NM_005373		Approved	CD110, TPOR	uc001ciw.3	P40238	OTTHUMG00000007429	ENST00000372470.3:c.509G>A	1.37:g.43805059G>A	ENSP00000361548:p.Arg170His	Somatic		Capture	Illumina HiSeq	Phase_I	43577646	Q5JUZ0	Missense_Mutation	SNP	ENST00000372470.3	37	CCDS483.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980277	0.53827	.	.	ENSG00000117400	ENST00000372468;ENST00000372470;ENST00000413998	D;D	0.86432	-2.12;-2.12	5.55	4.44	0.53790	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.306681	0.38058	N	0.001831	D	0.88317	0.6404	L	0.32530	0.975	0.35985	D	0.836287	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.76575	0.988;0.973;0.925	D	0.89609	0.3840	10	0.52906	T	0.07	-20.9461	10.1702	0.42904	0.105:0.0:0.895:0.0	.	163;170;170	Q308M1;P40238;Q5JUY5	.;TPOR_HUMAN;.	H	170	ENSP00000361548:R170H;ENSP00000414004:R170H	ENSP00000361546:R170H	R	+	2	0	MPL	43577646	1.000000	0.71417	1.000000	0.80357	0.529000	0.34654	2.294000	0.43567	2.617000	0.88574	0.555000	0.69702	CGC		MPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019522.1	NM_005373	
LRRC8D	55144	hgsc.bcm.edu	37	1	90400935	90400935	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:90400935C>A	ENST00000337338.5	+	3	2715	c.2308C>A	c.(2308-2310)Caa>Aaa	p.Q770K	LRRC8D_ENST00000394593.3_Missense_Mutation_p.Q770K	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	770					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TCTGCCAAAACAATTGTTTAA	0.423																																																	0			1											96.0	94.0	95.0					1																	90400935		2203	4300	6503	90173523	SO:0001583	missense	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.2308C>A	1.37:g.90400935C>A	ENSP00000338887:p.Gln770Lys	Somatic		Capture	Illumina HiSeq	Phase_I	90173523	D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	CCDS726.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.796115	0.31777	.	.	ENSG00000171492	ENST00000337338;ENST00000394593	T;T	0.56611	0.45;0.45	6.07	6.07	0.98685	.	0.137764	0.50627	D	0.000111	T	0.31544	0.0800	L	0.43152	1.355	0.45035	D	0.998057	B	0.19935	0.04	B	0.20184	0.028	T	0.06991	-1.0796	9	.	.	.	.	15.3709	0.74564	0.1393:0.8606:0.0:0.0	.	770	Q7L1W4	LRC8D_HUMAN	K	770	ENSP00000338887:Q770K;ENSP00000378093:Q770K	.	Q	+	1	0	LRRC8D	90173523	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	3.886000	0.56190	2.884000	0.98904	0.655000	0.94253	CAA		LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103	
KCNA10	3744	hgsc.bcm.edu	37	1	111060317	111060317	+	Missense_Mutation	SNP	C	C	T	rs190117605		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:111060317C>T	ENST00000369771.2	-	1	1480	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	365					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	AGTGTTTGCCCGAGGATCTGC	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		20618	0.0		0.001	False		,,,				2504	0.0																0			1											98.0	95.0	96.0					1																	111060317		2203	4300	6503	110861840	SO:0001583	missense	3744			U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1093G>A	1.37:g.111060317C>T	ENSP00000358786:p.Gly365Arg	Somatic		Capture	Illumina HiSeq	Phase_I	110861840		Missense_Mutation	SNP	ENST00000369771.2	37	CCDS826.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	16.76	3.211498	0.58343	.	.	ENSG00000143105	ENST00000369771	D	0.98701	-5.08	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99287	0.9751	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99544	1.0964	10	0.87932	D	0	.	18.3064	0.90184	0.0:1.0:0.0:0.0	.	365	Q16322	KCA10_HUMAN	R	365	ENSP00000358786:G365R	ENSP00000358786:G365R	G	-	1	0	KCNA10	110861840	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	7.815000	0.86186	2.676000	0.91093	0.558000	0.71614	GGG		KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549	
CD101	9398	hgsc.bcm.edu	37	1	117554415	117554415	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:117554415A>G	ENST00000256652.4	+	3	726	c.668A>G	c.(667-669)cAg>cGg	p.Q223R	CD101_ENST00000369470.1_Missense_Mutation_p.Q223R	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	223	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGTGACGTACAGCTCAACAAA	0.507																																																	0			1											85.0	75.0	78.0					1																	117554415		2203	4300	6503	117355938	SO:0001583	missense	9398			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.668A>G	1.37:g.117554415A>G	ENSP00000256652:p.Gln223Arg	Somatic		Capture	Illumina HiSeq	Phase_I	117355938	Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	CCDS891.1	.	.	.	.	.	.	.	.	.	.	A	0.004	-2.338193	0.00224	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.64991	-0.13;-0.13	5.57	1.64	0.23874	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.608916	0.15180	N	0.276180	T	0.04497	0.0123	N	0.00146	-1.995	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44742	-0.9308	10	0.02654	T	1	-6.3817	5.4565	0.16594	0.2318:0.0:0.6273:0.1409	.	223	Q93033	IGSF2_HUMAN	R	223	ENSP00000256652:Q223R;ENSP00000358482:Q223R	ENSP00000256652:Q223R	Q	+	2	0	CD101	117355938	0.006000	0.16342	0.000000	0.03702	0.002000	0.02628	1.079000	0.30766	0.063000	0.16370	-0.202000	0.12741	CAG		CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258	
HIST2H2AC	8338	hgsc.bcm.edu	37	1	149858598	149858598	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:149858598A>G	ENST00000331380.2	+	1	74	c.74A>G	c.(73-75)cAg>cGg	p.Q25R	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	25						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCTGGCCTCCAGTTCCCGGTA	0.652																																																	0			1											68.0	75.0	72.0					1																	149858598		2203	4299	6502	148125222	SO:0001583	missense	8338			AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.74A>G	1.37:g.149858598A>G	ENSP00000332194:p.Gln25Arg	Somatic		Capture	Illumina HiSeq	Phase_I	148125222	Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	CCDS937.1	.	.	.	.	.	.	.	.	.	.	A	16.77	3.213734	0.58452	.	.	ENSG00000184260	ENST00000331380	T	0.66995	-0.24	5.81	4.66	0.58398	Histone-fold (2);Histone core (1);Histone H2A (3);	0.000000	0.42053	D	0.000761	T	0.78848	0.4348	H	0.95470	3.675	0.41055	D	0.985331	P	0.35793	0.521	P	0.50405	0.64	T	0.82303	-0.0524	10	0.87932	D	0	.	12.0124	0.53295	0.855:0.145:0.0:0.0	.	25	Q16777	H2A2C_HUMAN	R	25	ENSP00000332194:Q25R	ENSP00000332194:Q25R	Q	+	2	0	HIST2H2AC	148125222	1.000000	0.71417	0.989000	0.46669	0.940000	0.58332	6.119000	0.71590	0.995000	0.38917	0.533000	0.62120	CAG		HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517	
ECM1	1893	hgsc.bcm.edu	37	1	150485845	150485845	+	Missense_Mutation	SNP	C	C	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:150485845C>G	ENST00000369047.4	+	10	1650	c.1525C>G	c.(1525-1527)Cta>Gta	p.L509V	ECM1_ENST00000470432.1_3'UTR|LINC00568_ENST00000416894.1_lincRNA|ECM1_ENST00000369049.4_Missense_Mutation_p.L536V|ECM1_ENST00000346569.6_Missense_Mutation_p.L384V	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	509					angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GAACGTGGCTCTAGTGTCTGG	0.542																																					Melanoma(156;1696 2560 11093 19685)												0			1											108.0	99.0	102.0					1																	150485845		2203	4300	6503	148752469	SO:0001583	missense	1893			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1525C>G	1.37:g.150485845C>G	ENSP00000358043:p.Leu509Val	Somatic		Capture	Illumina HiSeq	Phase_I	148752469	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.129237	0.37533	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	T;T;T	0.76578	-1.03;-1.03;-1.03	4.85	-1.24	0.09435	.	0.831604	0.10134	N	0.711736	T	0.37320	0.0999	L	0.35723	1.085	0.19945	N	0.999946	B;P;B	0.46859	0.228;0.885;0.02	B;B;B	0.41374	0.128;0.355;0.04	T	0.42932	-0.9422	10	0.02654	T	1	-1.118	6.1281	0.20189	0.0:0.2745:0.5154:0.2101	.	536;384;509	Q16610-4;Q16610-2;Q16610	.;.;ECM1_HUMAN	V	536;509;384	ENSP00000358045:L536V;ENSP00000358043:L509V;ENSP00000271630:L384V	ENSP00000271630:L384V	L	+	1	2	ECM1	148752469	0.016000	0.18221	0.960000	0.40013	0.880000	0.50808	-1.287000	0.02785	-0.065000	0.13021	0.563000	0.77884	CTA		ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425	
SMG5	23381	hgsc.bcm.edu	37	1	156230371	156230371	+	Silent	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:156230371T>C	ENST00000361813.5	-	15	2298	c.2154A>G	c.(2152-2154)gaA>gaG	p.E718E	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	718					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.E718E(1)		NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					GGTCAGGCAGTTCACAACCTT	0.567																																																	1	Substitution - coding silent(1)	ovary(1)	1											79.0	65.0	69.0					1																	156230371		2203	4300	6503	154496995	SO:0001819	synonymous_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.2154A>G	1.37:g.156230371T>C		Somatic		Capture	Illumina HiSeq	Phase_I	154496995	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	ENST00000361813.5	37	CCDS1137.1																																																																																				SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046308.1	NM_015327	
RABIF	5877	hgsc.bcm.edu	37	1	202858154	202858154	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:202858154G>A	ENST00000367262.3	-	1	109	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C		NM_002871.4	NP_002862.2	P47224	MSS4_HUMAN	RAB interacting factor	25					membrane fusion (GO:0061025)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(2)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGCCGCAACGCTGGCACAGC	0.682																																																	0			1											29.0	27.0	28.0					1																	202858154		2200	4299	6499	201124777	SO:0001583	missense	5877			S78873	CCDS1428.1	1q32.1	2008-05-14			ENSG00000183155	ENSG00000183155			9797	protein-coding gene	gene with protein product		603417		RASGRF3		9441742, 7619808	Standard	NM_002871		Approved	mss4	uc001gyl.3	P47224	OTTHUMG00000041400	ENST00000367262.3:c.73C>T	1.37:g.202858154G>A	ENSP00000356231:p.Arg25Cys	Somatic		Capture	Illumina HiSeq	Phase_I	201124777	B2R4P4|Q92992	Missense_Mutation	SNP	ENST00000367262.3	37	CCDS1428.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063654	0.76187	.	.	ENSG00000183155	ENST00000367262	.	.	.	4.69	2.81	0.32909	Mss4-like (1);Mss4/translationally controlled tumour-associated TCTP (1);	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.76008	-0.3116	9	0.56958	D	0.05	-7.4854	8.1289	0.31016	0.0853:0.1589:0.7558:0.0	.	25	P47224	MSS4_HUMAN	C	25	.	ENSP00000356231:R25C	R	-	1	0	RABIF	201124777	1.000000	0.71417	0.956000	0.39512	0.996000	0.88848	5.978000	0.70501	0.575000	0.29434	0.655000	0.94253	CGT		RABIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099183.1		
MFSD4	148808	hgsc.bcm.edu	37	1	205549974	205549974	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:205549974G>A	ENST00000367147.4	+	3	708	c.615G>A	c.(613-615)acG>acA	p.T205T	MFSD4_ENST00000536357.1_Intron|MFSD4_ENST00000539267.1_Silent_p.T205T	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	205					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			CCAACCAGACGTTCCCAGGGC	0.622																																																	0			1											78.0	64.0	69.0					1																	205549974		2203	4300	6503	203816597	SO:0001819	synonymous_variant	148808			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.615G>A	1.37:g.205549974G>A		Somatic		Capture	Illumina HiSeq	Phase_I	203816597	B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Silent	SNP	ENST00000367147.4	37	CCDS1455.1																																																																																				MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090391.1	NM_181644	
USH2A	7399	hgsc.bcm.edu	37	1	215963508	215963508	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:215963508A>G	ENST00000307340.3	-	51	10461	c.10075T>C	c.(10075-10077)Tgt>Cgt	p.C3359R	USH2A_ENST00000366943.2_Missense_Mutation_p.C3359R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3359					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCAGTCTCACAGCATTTTACT	0.388										HNSCC(13;0.011)																																							0			1											133.0	127.0	129.0					1																	215963508		2203	4300	6503	214030131	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10075T>C	1.37:g.215963508A>G	ENSP00000305941:p.Cys3359Arg	Somatic		Capture	Illumina HiSeq	Phase_I	214030131	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.986175	0.74589	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.42513	0.97;0.97	5.76	5.76	0.90799	Fibronectin, type III (2);	0.000000	0.49305	D	0.000150	T	0.66218	0.2767	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.71424	-0.4597	10	0.87932	D	0	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	3359	O75445	USH2A_HUMAN	R	3359	ENSP00000305941:C3359R;ENSP00000355910:C3359R	ENSP00000305941:C3359R	C	-	1	0	USH2A	214030131	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.478000	0.90428	2.191000	0.70037	0.533000	0.62120	TGT		USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
IFITM3	10410	hgsc.bcm.edu	37	11	319855	319855	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:319855A>G	ENST00000399808.4	-	2	621	c.385T>C	c.(385-387)Ttc>Ctc	p.F129L	RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.10_ENST00000534271.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.F108L|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.F108L	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	129	Interaction with VAPA.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.F129V(1)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TAGGCCTGGAAGATCAGCACT	0.587																																																	1	Substitution - Missense(1)	central_nervous_system(1)	11											68.0	70.0	70.0					11																	319855		2029	4178	6207	309855	SO:0001583	missense	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.385T>C	11.37:g.319855A>G	ENSP00000382707:p.Phe129Leu	Somatic		Capture	Illumina HiSeq	Phase_I	309855	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	0.348|0.348	-0.946328|-0.946328	0.02304|0.02304	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000399808;ENST00000526811|ENST00000270031	T;T|.	0.78126|.	-0.9;-1.15|.	2.58|2.58	-5.16|-5.16	0.02857|0.02857	.|.	.|0.215683	.|0.25981	.|U	.|0.027064	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.11665|0.11665	-1.0578|-1.0578	9|7	0.05833|0.51188	T|T	0.94|0.08	1.4325|1.4325	2.1432|2.1432	0.03780|0.03780	0.1561:0.2923:0.4058:0.1459|0.1561:0.2923:0.4058:0.1459	.|.	129|.	Q01628|.	IFM3_HUMAN|.	L|P	129;108|109	ENSP00000382707:F129L;ENSP00000432108:F108L|.	ENSP00000382707:F129L|ENSP00000372047:L109P	F|L	-|-	1|2	0|0	IFITM3|IFITM3	309855|309855	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-6.554000|-6.554000	0.00061|0.00061	-2.050000|-2.050000	0.00905|0.00905	-0.420000|-0.420000	0.06012|0.06012	TTC|CTT		IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
DNHD1	144132	hgsc.bcm.edu	37	11	6530177	6530177	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:6530177G>T	ENST00000527990.2	+	3	988	c.988G>T	c.(988-990)Ggg>Tgg	p.G330W	DNHD1_ENST00000354685.3_Missense_Mutation_p.G330W|DNHD1_ENST00000254579.6_Missense_Mutation_p.G330W			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	330					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)	p.G330R(2)		NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTCTCCCTTTGGGATCTTGCA	0.517																																																	2	Substitution - Missense(2)	ovary(2)	11											178.0	151.0	160.0					11																	6530177		2201	4296	6497	6486753	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.988G>T	11.37:g.6530177G>T	ENSP00000436180:p.Gly330Trp	Somatic		Capture	Illumina HiSeq	Phase_I	6486753	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.689592	0.68271	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.19669	2.13;2.13;2.13	5.83	4.9	0.64082	.	0.317593	0.27464	N	0.019259	T	0.51346	0.1669	M	0.87381	2.88	0.36656	D	0.877663	D;D	0.89917	0.958;1.0	P;D	0.97110	0.665;1.0	T	0.66670	-0.5865	10	0.87932	D	0	.	13.3274	0.60467	0.0:0.0:0.8415:0.1585	.	330;330	Q96M86;Q96M86-4	DNHD1_HUMAN;.	W	330	ENSP00000254579:G330W;ENSP00000346716:G330W;ENSP00000436180:G330W	ENSP00000254579:G330W	G	+	1	0	DNHD1	6486753	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	5.429000	0.66495	1.418000	0.47098	0.650000	0.86243	GGG		DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
IGSF22	283284	hgsc.bcm.edu	37	11	18735425	18735425	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:18735425G>A	ENST00000513874.1	-	14	2208	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	690	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CAGAGTGGCCGTGGCTGAGCC	0.642																																																	0			11											42.0	47.0	45.0					11																	18735425		2169	4258	6427	18692001	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2069C>T	11.37:g.18735425G>A	ENSP00000421191:p.Thr690Met	Somatic		Capture	Illumina HiSeq	Phase_I	18692001	A6NNA0|D6RGV7	Missense_Mutation	SNP	ENST00000513874.1	37	CCDS41625.2	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101415	0.37048	.	.	ENSG00000179057	ENST00000513874	T	0.70164	-0.46	3.97	3.05	0.35203	.	0.000000	0.37906	U	0.001891	T	0.71879	0.3392	M	0.83774	2.66	0.09310	N	1	D	0.60575	0.988	P	0.53224	0.721	T	0.62623	-0.6815	10	0.37606	T	0.19	.	5.3709	0.16138	0.3017:0.0:0.6983:0.0	.	690	D6RGV7	.	M	690	ENSP00000421191:T690M	ENSP00000322422:T690M	T	-	2	0	IGSF22	18692001	0.013000	0.17824	0.013000	0.15412	0.811000	0.45836	1.572000	0.36461	0.891000	0.36235	0.442000	0.29010	ACG		IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	NM_173588	
METTL15	196074	hgsc.bcm.edu	37	11	28135029	28135029	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:28135029G>T	ENST00000407364.3	+	3	500	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	METTL15_ENST00000379199.2_Missense_Mutation_p.D50Y|METTL15_ENST00000303459.6_Missense_Mutation_p.D50Y|METTL15_ENST00000403099.1_Missense_Mutation_p.D50Y|METTL15_ENST00000406787.3_Missense_Mutation_p.D50Y|METTL15_ENST00000342303.5_Missense_Mutation_p.D50Y			A6NJ78	MET15_HUMAN	methyltransferase like 15	50							methyltransferase activity (GO:0008168)	p.D50Y(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						GGAGCAAACAGATCAAACTCA	0.383																																																	1	Substitution - Missense(1)	ovary(1)	11											52.0	59.0	57.0					11																	28135029		2202	4299	6501	28091605	SO:0001583	missense	196074			AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.148G>T	11.37:g.28135029G>T	ENSP00000384369:p.Asp50Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	28091605	A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Missense_Mutation	SNP	ENST00000407364.3	37	CCDS44559.1	.	.	.	.	.	.	.	.	.	.	G	3.329	-0.137051	0.06711	.	.	ENSG00000169519	ENST00000406787;ENST00000342303;ENST00000403099;ENST00000407364;ENST00000379199;ENST00000303459	T;T;T;T;T;T	0.46063	1.43;1.46;0.88;1.88;0.88;1.46	5.68	0.285	0.15705	.	1.560150	0.03265	N	0.183849	T	0.28466	0.0704	N	0.16478	0.41	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.08055	0.0;0.001;0.003	T	0.23190	-1.0195	10	0.46703	T	0.11	.	6.4548	0.21924	0.1468:0.0:0.3386:0.5146	.	50;50;50	A6NJ78;A6NJ78-2;A6NJ78-4	MET15_HUMAN;.;.	Y	50	ENSP00000385507:D50Y;ENSP00000342259:D50Y;ENSP00000385860:D50Y;ENSP00000384369:D50Y;ENSP00000368497:D50Y;ENSP00000307251:D50Y	ENSP00000307251:D50Y	D	+	1	0	METTL15	28091605	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.901000	0.04093	0.089000	0.17243	-0.230000	0.12252	GAT		METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636	
OR5B21	219968	hgsc.bcm.edu	37	11	58275303	58275303	+	Silent	SNP	G	G	A	rs146345059	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:58275303G>A	ENST00000360374.2	-	1	275	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACATCCATCGTAGGAGATGG	0.532													G|||	4	0.000798722	0.0	0.0058	5008	,	,		21630	0.0		0.0	False		,,,				2504	0.0																0			11						G		0,4402		0,0,2201	122.0	96.0	105.0		276	2.2	0.5	11	dbSNP_134	105	8,8582	6.4+/-24.3	0,8,4287	no	coding-synonymous	OR5B21	NM_001005218.1		0,8,6488	AA,AG,GG		0.0931,0.0,0.0616		92/310	58275303	8,12984	2201	4295	6496	58031879	SO:0001819	synonymous_variant	219968				CCDS31552.1	11q12.1	2012-08-09			ENSG00000198283	ENSG00000198283		"""GPCR / Class A : Olfactory receptors"""	19616	protein-coding gene	gene with protein product							Standard	NM_001005218		Approved		uc010rki.2	A6NL26	OTTHUMG00000167519	ENST00000360374.2:c.276C>T	11.37:g.58275303G>A		Somatic		Capture	Illumina HiSeq	Phase_I	58031879		Silent	SNP	ENST00000360374.2	37	CCDS31552.1																																																																																				OR5B21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394891.1	NM_001005218	
VPS37C	55048	hgsc.bcm.edu	37	11	60901542	60901542	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:60901542G>A	ENST00000301765.5	-	3	463	c.231C>T	c.(229-231)ctC>ctT	p.L77L		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	77					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						ACCGCTCCACGAGCTTCCGGA	0.627																																																	0			11											67.0	68.0	68.0					11																	60901542		2203	4299	6502	60658118	SO:0001819	synonymous_variant	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.231C>T	11.37:g.60901542G>A		Somatic		Capture	Illumina HiSeq	Phase_I	60658118	Q8N3K4	Silent	SNP	ENST00000301765.5	37	CCDS31573.1																																																																																				VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1	NM_017966	
ADAMTS15	170689	hgsc.bcm.edu	37	11	130343260	130343260	+	Silent	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:130343260T>C	ENST00000299164.2	+	8	2397	c.2397T>C	c.(2395-2397)taT>taC	p.Y799Y		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	799	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		ACTCCTTCTATCTGCCCAAAG	0.647																																																	0			11											98.0	113.0	108.0					11																	130343260		2201	4296	6497	129848470	SO:0001819	synonymous_variant	170689			AJ315733	CCDS8488.1	11q25	2008-02-01	2005-08-19		ENSG00000166106	ENSG00000166106		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	16305	protein-coding gene	gene with protein product		607509	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15"""			11867212	Standard	NM_139055		Approved		uc010scd.2	Q8TE58	OTTHUMG00000165657	ENST00000299164.2:c.2397T>C	11.37:g.130343260T>C		Somatic		Capture	Illumina HiSeq	Phase_I	129848470	Q32MI6	Silent	SNP	ENST00000299164.2	37	CCDS8488.1																																																																																				ADAMTS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385638.1	NM_139055	
DAAM2	23500	hgsc.bcm.edu	37	6	39824089	39824089	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr6:39824089G>A	ENST00000398904.2	+	2	193	c.11G>A	c.(10-12)cGc>cAc	p.R4H	DAAM2_ENST00000538976.1_Missense_Mutation_p.R4H|DAAM2_ENST00000405961.3_Missense_Mutation_p.R4H|DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.R4H			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	4					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATGGCCCCCCGCAAGAGGAGC	0.617																																																	0			6											20.0	23.0	22.0					6																	39824089		1992	4156	6148	39932067	SO:0001583	missense	23500			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.11G>A	6.37:g.39824089G>A	ENSP00000381876:p.Arg4His	Somatic		Capture	Illumina HiSeq	Phase_I	39932067	G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623445	0.87460	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976;ENST00000405961	D;D;D	0.81499	-1.5;-1.5;-1.5	5.92	5.05	0.67936	.	0.106857	0.64402	N	0.000012	T	0.80003	0.4544	M	0.66939	2.045	0.47737	D	0.999501	B;B;D	0.69078	0.003;0.002;0.997	B;B;P	0.52481	0.005;0.002;0.7	T	0.83021	-0.0167	10	0.66056	D	0.02	.	13.9184	0.63916	0.074:0.0:0.926:0.0	.	4;4;4	G5EA45;Q86T65;F2Z2Q2	.;DAAM2_HUMAN;.	H	4	ENSP00000274867:R4H;ENSP00000381876:R4H;ENSP00000437808:R4H	ENSP00000274867:R4H	R	+	2	0	DAAM2	39932067	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.243000	0.72384	1.499000	0.48617	0.655000	0.94253	CGC		DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1		
NFKBIE	4794	hgsc.bcm.edu	37	6	44233393	44233393	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr6:44233393G>A	ENST00000275015.5	-	1	107	c.108C>T	c.(106-108)gcC>gcT	p.A36A		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	36					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			gcccccggcgggcgcTTCCGG	0.731																																																	0			6											2.0	2.0	2.0					6																	44233393		1090	2156	3246	44341371	SO:0001819	synonymous_variant	4794			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.108C>T	6.37:g.44233393G>A		Somatic		Capture	Illumina HiSeq	Phase_I	44341371	Q5T9V9	Silent	SNP	ENST00000275015.5	37	CCDS34463.1																																																																																				NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2		
MEP1A	4224	hgsc.bcm.edu	37	6	46793169	46793169	+	Silent	SNP	C	C	T	rs146158038		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr6:46793169C>T	ENST00000230588.4	+	8	726	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	239	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ACTCCATTATCGGACAGCGCC	0.428																																																	0			6						C		0,4406		0,0,2203	139.0	122.0	128.0		717	0.9	1.0	6	dbSNP_134	128	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MEP1A	NM_005588.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		239/747	46793169	1,13005	2203	4300	6503	46901128	SO:0001819	synonymous_variant	4224				CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.717C>T	6.37:g.46793169C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46901128	A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	CCDS4918.1																																																																																				MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588	
IMPG1	3617	hgsc.bcm.edu	37	6	76731915	76731915	+	Missense_Mutation	SNP	C	C	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr6:76731915C>G	ENST00000369950.3	-	6	773	c.584G>C	c.(583-585)gGg>gCg	p.G195A	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGGAAAGGCCCAAGTGAGAC	0.383																																					Pancreas(37;839 1141 2599 26037)												0			6											150.0	134.0	139.0					6																	76731915		2203	4300	6503	76788635	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.584G>C	6.37:g.76731915C>G	ENSP00000358966:p.Gly195Ala	Somatic		Capture	Illumina HiSeq	Phase_I	76788635		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.977841	0.00452	.	.	ENSG00000112706	ENST00000369950	T	0.18174	2.23	5.2	-4.11	0.03928	.	3.564720	0.00802	N	0.001427	T	0.03263	0.0095	L	0.41236	1.265	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.30736	-0.9968	10	0.14252	T	0.57	.	4.2295	0.10596	0.0942:0.1515:0.4908:0.2635	.	195	Q17R60	IMPG1_HUMAN	A	195	ENSP00000358966:G195A	ENSP00000358966:G195A	G	-	2	0	IMPG1	76788635	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.582000	0.05814	-0.376000	0.07943	-0.355000	0.07637	GGG		IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
FYN	2534	hgsc.bcm.edu	37	6	112017653	112017653	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr6:112017653C>A	ENST00000354650.3	-	10	1475	c.869G>T	c.(868-870)tGg>tTg	p.W290L	FYN_ENST00000368682.3_Missense_Mutation_p.W287L|FYN_ENST00000368678.4_Missense_Mutation_p.W287L|FYN_ENST00000229470.5_Missense_Mutation_p.W238L|FYN_ENST00000229471.4_Missense_Mutation_p.W235L|FYN_ENST00000356013.2_Missense_Mutation_p.W235L|FYN_ENST00000368667.2_Missense_Mutation_p.W290L|FYN_ENST00000538466.1_Missense_Mutation_p.W287L|FYN_ENST00000476769.2_5'UTR	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GTTTCCATTCCAGGTACCTAC	0.398																																																	0			6											102.0	90.0	94.0					6																	112017653		2203	4300	6503	112124346	SO:0001583	missense	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.869G>T	6.37:g.112017653C>A	ENSP00000346671:p.Trp290Leu	Somatic		Capture	Illumina HiSeq	Phase_I	112124346	B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Missense_Mutation	SNP	ENST00000354650.3	37	CCDS5094.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125707	0.94429	.	.	ENSG00000010810	ENST00000368682;ENST00000354650;ENST00000229471;ENST00000368667;ENST00000368678;ENST00000229470;ENST00000356013;ENST00000538466;ENST00000544792	T;T;T;T;T;T;T;T	0.81163	-1.46;1.84;-1.46;1.84;-1.46;1.84;-1.46;-1.46	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	N	0.01742	-0.745	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.977;0.96;1.0	D	0.84793	0.0780	10	0.87932	D	0	.	19.7367	0.96208	0.0:1.0:0.0:0.0	.	290;235;287	P06241;P06241-3;E1P556	FYN_HUMAN;.;.	L	287;290;235;290;287;238;235;287;238	ENSP00000357671:W287L;ENSP00000346671:W290L;ENSP00000229471:W235L;ENSP00000357656:W290L;ENSP00000357667:W287L;ENSP00000229470:W238L;ENSP00000348295:W235L;ENSP00000440646:W287L	ENSP00000229470:W238L	W	-	2	0	FYN	112124346	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.787000	0.85759	2.656000	0.90262	0.655000	0.94253	TGG		FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043655.1		
PNLDC1	154197	hgsc.bcm.edu	37	6	160231096	160231096	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr6:160231096C>A	ENST00000610273.1	+	10	960	c.789C>A	c.(787-789)caC>caA	p.H263Q	PNLDC1_ENST00000392167.3_Missense_Mutation_p.H274Q	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	263						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		ACCTGCTGCACCTCCATGAGA	0.453																																																	0			6											121.0	108.0	112.0					6																	160231096		2203	4300	6503	160151086	SO:0001583	missense	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.789C>A	6.37:g.160231096C>A	ENSP00000476448:p.His263Gln	Somatic		Capture	Illumina HiSeq	Phase_I	160151086	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557719	0.45590	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	T;T	0.26373	1.74;1.74	4.95	-0.543	0.11851	Ribonuclease H-like (1);	0.202450	0.34245	N	0.004125	T	0.15349	0.0370	M	0.66439	2.03	0.35373	D	0.789181	B;P	0.42941	0.151;0.794	B;P	0.45377	0.164;0.478	T	0.04481	-1.0948	10	0.39692	T	0.17	.	8.8362	0.35113	0.0:0.4946:0.0:0.5054	.	274;263	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	Q	263;274	ENSP00000275275:H263Q;ENSP00000376007:H274Q	ENSP00000275275:H263Q	H	+	3	2	PNLDC1	160151086	0.731000	0.28111	0.994000	0.49952	0.942000	0.58702	-0.600000	0.05693	0.029000	0.15352	-0.471000	0.05019	CAC		PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
THBS2	7058	hgsc.bcm.edu	37	6	169648555	169648555	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr6:169648555C>T	ENST00000366787.3	-	4	815	c.566G>A	c.(565-567)cGg>cAg	p.R189Q		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	189	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R189P(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACGTACATCCGGCTCTTTTC	0.612																																					Esophageal Squamous(91;219 1934 18562 44706)												1	Substitution - Missense(1)	ovary(1)	6											101.0	104.0	103.0					6																	169648555		2203	4300	6503	169390480	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.566G>A	6.37:g.169648555C>T	ENSP00000355751:p.Arg189Gln	Somatic		Capture	Illumina HiSeq	Phase_I	169390480	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223377	0.39300	.	.	ENSG00000186340	ENST00000366787	T	0.02216	4.39	4.5	3.6	0.41247	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.159155	0.28268	U	0.015970	T	0.00906	0.0030	L	0.41573	1.285	0.26483	N	0.975079	B	0.25772	0.134	B	0.17433	0.018	T	0.45963	-0.9225	10	0.45353	T	0.12	-39.3345	9.9005	0.41344	0.0:0.8357:0.0:0.1643	.	189	P35442	TSP2_HUMAN	Q	189	ENSP00000355751:R189Q	ENSP00000355751:R189Q	R	-	2	0	THBS2	169390480	1.000000	0.71417	1.000000	0.80357	0.347000	0.29111	2.330000	0.43885	2.204000	0.70986	0.563000	0.77884	CGG		THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	
MPRIP	23164	hgsc.bcm.edu	37	17	17061869	17061869	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr17:17061869G>T	ENST00000341712.4	+	14	1599	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	MPRIP_ENST00000444976.1_Missense_Mutation_p.E495D|MPRIP_ENST00000395811.5_Missense_Mutation_p.E533D|MPRIP_ENST00000395804.3_Missense_Mutation_p.E533D			Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	533						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCGCACGGGAGCGGAGGCGAG	0.677																																																	0			17											15.0	18.0	17.0					17																	17061869		2202	4298	6500	17002594	SO:0001583	missense	23164			BC014102	CCDS32578.1, CCDS42268.1	17p11.2	2013-01-10			ENSG00000133030	ENSG00000133030		"""Pleckstrin homology (PH) domain containing"""	30321	protein-coding gene	gene with protein product	"""Rho interacting protein 3"""	612935				10048485	Standard	NM_201274		Approved	RHOIP3, M-RIP, p116Rip	uc002gqy.2	Q6WCQ1	OTTHUMG00000059276	ENST00000341712.4:c.1599G>T	17.37:g.17061869G>T	ENSP00000342379:p.Glu533Asp	Somatic		Capture	Illumina HiSeq	Phase_I	17002594	Q3KQZ5|Q5FB94|Q6DHW2|Q7Z5Y2|Q8N390|Q96G40	Missense_Mutation	SNP	ENST00000341712.4	37	CCDS32578.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.53|16.53	3.149821|3.149821	0.57151|0.57151	.|.	.|.	ENSG00000133030|ENSG00000133030	ENST00000444976;ENST00000395811;ENST00000395804;ENST00000341712|ENST00000423885	T;T;T;T|.	0.26957|.	1.7;2.01;2.0;2.0|.	5.63|5.63	3.3|3.3	0.37823|0.37823	.|.	.|.	.|.	.|.	.|.	T|T	0.64405|0.64405	0.2595|0.2595	M|M	0.71581|0.71581	2.175|2.175	0.38798|0.38798	D|D	0.955146|0.955146	P;D|.	0.76494|.	0.939;0.999|.	P;D|.	0.77557|.	0.796;0.99|.	T|T	0.65861|0.65861	-0.6065|-0.6065	9|5	0.29301|.	T|.	0.29|.	.|.	9.0526|9.0526	0.36385|0.36385	0.3296:0.0:0.6704:0.0|0.3296:0.0:0.6704:0.0	.|.	533;533|.	Q6WCQ1-2;Q6WCQ1|.	.;MPRIP_HUMAN|.	D|I	495;533;533;533|20	ENSP00000400189:E495D;ENSP00000379156:E533D;ENSP00000379149:E533D;ENSP00000342379:E533D|.	ENSP00000342379:E533D|.	E|S	+|+	3|2	2|0	MPRIP|MPRIP	17002594|17002594	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.523000|0.523000	0.34469|0.34469	2.026000|2.026000	0.41069|0.41069	1.390000|1.390000	0.46547|0.46547	0.563000|0.563000	0.77884|0.77884	GAG|AGC		MPRIP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131587.1	NM_015134	
KLHL10	317719	hgsc.bcm.edu	37	17	39998267	39998267	+	Silent	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr17:39998267C>T	ENST00000293303.4	+	2	540	c.387C>T	c.(385-387)tgC>tgT	p.C129C	KLHL10_ENST00000485613.1_3'UTR	NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	129					cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia morphogenesis (GO:0048808)|male gonad development (GO:0008584)|protein ubiquitination (GO:0016567)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)		p.C129C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GGGGTTGCTGCGAGTTCCTCA	0.507																																																	1	Substitution - coding silent(1)	breast(1)	17											122.0	113.0	116.0					17																	39998267		1995	4175	6170	37251793	SO:0001819	synonymous_variant	317719			AK057224	CCDS42340.1	17q21.2	2013-01-30	2013-01-30		ENSG00000161594	ENSG00000161594		"""Kelch-like"", ""BTB/POZ domain containing"""	18829	protein-coding gene	gene with protein product		608778	"""kelch-like 10 (Drosophila)"""				Standard	NM_152467		Approved	FLJ32662	uc010cxr.3	Q6JEL2	OTTHUMG00000152510	ENST00000293303.4:c.387C>T	17.37:g.39998267C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37251793	Q6NW28|Q96MC0	Silent	SNP	ENST00000293303.4	37	CCDS42340.1																																																																																				KLHL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326535.1	NM_152467	
MARCH10	162333	hgsc.bcm.edu	37	17	60821765	60821765	+	Silent	SNP	A	A	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr17:60821765A>T	ENST00000311269.5	-	5	781	c.507T>A	c.(505-507)ccT>ccA	p.P169P	MARCH10_ENST00000456609.2_Silent_p.P169P|MARCH10_ENST00000583600.1_Silent_p.P207P|MARCH10_ENST00000544856.2_Silent_p.P168P	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	169					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCACCTTTGCAGGCCACTGCT	0.552																																																	0			17											110.0	107.0	108.0					17																	60821765		2203	4300	6503	58175497	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.507T>A	17.37:g.60821765A>T		Somatic		Capture	Illumina HiSeq	Phase_I	58175497	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																				MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1	NM_152598	
FASN	2194	hgsc.bcm.edu	37	17	80044289	80044289	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr17:80044289G>A	ENST00000306749.2	-	22	3791	c.3573C>T	c.(3571-3573)aaC>aaT	p.N1191N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1191					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GCAGGTTCCCGTTGAGCTGAA	0.687																																					Colon(59;314 1043 11189 28578 32273)												0			17											19.0	21.0	20.0					17																	80044289		2196	4287	6483	77637578	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3573C>T	17.37:g.80044289G>A		Somatic		Capture	Illumina HiSeq	Phase_I	77637578	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	ENST00000306749.2	37	CCDS11801.1																																																																																				FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104	
CCDC154	645811	hgsc.bcm.edu	37	16	1484686	1484686	+	Silent	SNP	G	G	A	rs34602472|rs545464337		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr16:1484686G>A	ENST00000389176.3	-	16	2047	c.1881C>T	c.(1879-1881)ggC>ggT	p.G627G	CCDC154_ENST00000409671.1_Silent_p.G475G	NM_001143980.1	NP_001137452.1	A6NI56	CC154_HUMAN	coiled-coil domain containing 154	627						endosome (GO:0005768)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)	5						CCTGGTACACGCCCCAGCAGT	0.711													G|||	1	0.000199681	0.0	0.0	5008	,	,		10192	0.001		0.0	False		,,,				2504	0.0																0			16											28.0	32.0	31.0					16																	1484686		692	1589	2281	1424687	SO:0001819	synonymous_variant	645811					16p13.3	2012-12-13			ENSG00000197599	ENSG00000197599			34454	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 29"""	C16orf29			Standard	NM_001143980		Approved	LOC645811	uc010uve.2	A6NI56	OTTHUMG00000154097	ENST00000389176.3:c.1881C>T	16.37:g.1484686G>A		Somatic		Capture	Illumina HiSeq	Phase_I	1424687	G9JV18	Silent	SNP	ENST00000389176.3	37																																																																																					CCDC154-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001143980	
SRCAP	10847	hgsc.bcm.edu	37	16	30731533	30731533	+	Silent	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr16:30731533T>C	ENST00000262518.4	+	19	3253	c.2868T>C	c.(2866-2868)tcT>tcC	p.S956S	SRCAP_ENST00000395059.2_Silent_p.S956S|SRCAP_ENST00000344771.4_Silent_p.S956S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	956					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCGTGTCTCTCGATATGAGG	0.542																																																	0			16											190.0	191.0	190.0					16																	30731533		2197	4300	6497	30639034	SO:0001819	synonymous_variant	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.2868T>C	16.37:g.30731533T>C		Somatic		Capture	Illumina HiSeq	Phase_I	30639034	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	CCDS10689.2																																																																																				SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
ZNF646	9726	hgsc.bcm.edu	37	16	31091794	31091794	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr16:31091794G>A	ENST00000394979.2	+	1	4572	c.4149G>A	c.(4147-4149)ctG>ctA	p.L1383L	ZNF646_ENST00000300850.5_Silent_p.L1383L			O15015	ZN646_HUMAN	zinc finger protein 646	1383					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						AGCGGCACCTGCGGGAGCATG	0.677																																																	0			16											31.0	35.0	33.0					16																	31091794		2197	4299	6496	30999295	SO:0001819	synonymous_variant	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.4149G>A	16.37:g.31091794G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30999295	Q8IVD8	Silent	SNP	ENST00000394979.2	37																																																																																					ZNF646-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000108510.2	NM_014699	
RBL2	5934	hgsc.bcm.edu	37	16	53498217	53498217	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr16:53498217C>A	ENST00000262133.6	+	12	1777	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.P331H	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	547	Domain A.|Pocket; binds E1A.				chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TATAAGCCTCCTGGGAATTTT	0.338																																																	0			16											90.0	93.0	92.0					16																	53498217		2198	4300	6498	52055718	SO:0001583	missense	5934			X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.1640C>A	16.37:g.53498217C>A	ENSP00000262133:p.Pro547His	Somatic		Capture	Illumina HiSeq	Phase_I	52055718	B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.676974	0.47886	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000379935;ENST00000544545	D;D;D	0.86865	-2.18;-2.18;-2.18	5.86	5.86	0.93980	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.050790	0.85682	D	0.000000	D	0.93766	0.8007	M	0.79475	2.455	0.45354	D	0.998345	D;D;P;D	0.89917	0.998;0.999;0.542;1.0	D;D;P;D	0.72338	0.947;0.976;0.489;0.977	D	0.93547	0.6883	10	0.66056	D	0.02	-15.6206	20.1996	0.98256	0.0:1.0:0.0:0.0	.	331;547;257;547	B7Z913;Q8NE70;E9PG04;Q08999	.;.;.;RBL2_HUMAN	H	547;473;257;331	ENSP00000262133:P547H;ENSP00000443744:P473H;ENSP00000444685:P331H	ENSP00000262133:P547H	P	+	2	0	RBL2	52055718	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.599000	0.54045	2.776000	0.95493	0.650000	0.86243	CCT		RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611	
ANKRD11	29123	hgsc.bcm.edu	37	16	89346415	89346415	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr16:89346415C>T	ENST00000301030.4	-	9	6995	c.6535G>A	c.(6535-6537)Gtt>Att	p.V2179I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V2179I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2179	Pro-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACGGTGGAAACATCCCCACCG	0.632																																																	0			16											18.0	23.0	21.0					16																	89346415		2106	4109	6215	87873916	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.6535G>A	16.37:g.89346415C>T	ENSP00000301030:p.Val2179Ile	Somatic		Capture	Illumina HiSeq	Phase_I	87873916	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344705	0.24426	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.38077	1.16;1.16	5.08	0.539	0.17156	.	0.977772	0.08335	N	0.961668	T	0.17066	0.0410	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28839	-1.0031	10	0.19147	T	0.46	.	6.9562	0.24572	0.0:0.5044:0.2584:0.2372	.	2179	Q6UB99	ANR11_HUMAN	I	2179	ENSP00000301030:V2179I;ENSP00000367581:V2179I	ENSP00000301030:V2179I	V	-	1	0	ANKRD11	87873916	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.190000	0.09615	0.537000	0.28751	0.450000	0.29827	GTT		ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
PIK3C3	5289	hgsc.bcm.edu	37	18	39576651	39576651	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr18:39576651A>G	ENST00000262039.4	+	9	1027	c.941A>G	c.(940-942)gAt>gGt	p.D314G	PIK3C3_ENST00000398870.3_Missense_Mutation_p.D251G	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	314	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GAAGAACAAGATCTTGTTTGG	0.269										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0			18											79.0	86.0	83.0					18																	39576651		2202	4277	6479	37830649	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.941A>G	18.37:g.39576651A>G	ENSP00000262039:p.Asp314Gly	Somatic		Capture	Illumina HiSeq	Phase_I	37830649	Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370983	0.82573	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.64260	-0.09;-0.09	5.36	5.36	0.76844	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	M	0.67569	2.06	0.80722	D	1	B;P	0.38048	0.426;0.616	B;B	0.37091	0.074;0.241	T	0.62572	-0.6826	9	.	.	.	.	15.3393	0.74284	1.0:0.0:0.0:0.0	.	251;314	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	G	314;251	ENSP00000262039:D314G;ENSP00000381845:D251G	.	D	+	2	0	PIK3C3	37830649	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.852000	0.75430	2.027000	0.59764	0.383000	0.25322	GAT		PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	
EPG5	57724	hgsc.bcm.edu	37	18	43450590	43450590	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr18:43450590C>T	ENST00000282041.5	-	36	6201	c.6167G>A	c.(6166-6168)cGg>cAg	p.R2056Q	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	2056			R -> W (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.R2056Q(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGGCAGTTTCCGGTACGTGCT	0.517																																																	1	Substitution - Missense(1)	large_intestine(1)	18											106.0	107.0	107.0					18																	43450590		1993	4170	6163	41704588	SO:0001583	missense	57724			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.6167G>A	18.37:g.43450590C>T	ENSP00000282041:p.Arg2056Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41704588	A2BDF3|Q9H8C8	Missense_Mutation	SNP	ENST00000282041.5	37	CCDS11926.2	.	.	.	.	.	.	.	.	.	.	C	8.527	0.870095	0.17322	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.09817	2.94	6.03	-12.1	0.00011	.	.	.	.	.	T	0.05960	0.0155	N	0.03154	-0.405	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.58126	-0.7691	9	0.21014	T	0.42	-0.1748	29.0522	0.99999	0.0:0.8579:0.0:0.1421	.	2056	Q9HCE0	EPG5_HUMAN	Q	2056;931	ENSP00000282041:R2056Q	ENSP00000282041:R2056Q	R	-	2	0	EPG5	41704588	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.613000	0.02059	-2.940000	0.00297	-0.880000	0.02959	CGG		EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1	NM_020964	
POLI	11201	hgsc.bcm.edu	37	18	51810308	51810308	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr18:51810308A>G	ENST00000579534.1	+	7	1135	c.992A>G	c.(991-993)gAt>gGt	p.D331G	POLI_ENST00000217800.5_Missense_Mutation_p.D205G|POLI_ENST00000406285.3_Missense_Mutation_p.D252G|POLI_ENST00000579434.1_Missense_Mutation_p.D228G	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	331	DNA binding.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D306V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGTGAAGAAGATTCATTTAAA	0.279								DNA polymerases (catalytic subunits)																																									1	Substitution - Missense(1)	kidney(1)	18											48.0	49.0	49.0					18																	51810308		2199	4289	6488	50064306	SO:0001583	missense	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.992A>G	18.37:g.51810308A>G	ENSP00000462664:p.Asp331Gly	Somatic		Capture	Illumina HiSeq	Phase_I	50064306	Q8N590|Q9H0S1|Q9NYH6	Missense_Mutation	SNP	ENST00000579534.1	37	CCDS11954.2	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280632	0.40294	.	.	ENSG00000101751	ENST00000406285;ENST00000217800	T	0.37584	1.19	5.5	5.5	0.81552	DNA polymerase, Y-family, little finger domain (2);	0.053964	0.64402	D	0.000001	T	0.62295	0.2416	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.971;0.985	T	0.64939	-0.6289	10	0.42905	T	0.14	-16.9681	14.8826	0.70545	1.0:0.0:0.0:0.0	.	251;331	B7Z780;Q9UNA4	.;POLI_HUMAN	G	252;331	ENSP00000385196:D252G	ENSP00000217800:D331G	D	+	2	0	POLI	50064306	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.580000	0.74040	2.213000	0.71641	0.528000	0.53228	GAT		POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
DSEL	92126	hgsc.bcm.edu	37	18	65180784	65180784	+	Silent	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr18:65180784A>G	ENST00000310045.7	-	2	2565	c.1092T>C	c.(1090-1092)aaT>aaC	p.N364N	CTD-2541J13.2_ENST00000583493.1_RNA|RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	354					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTCCAGCTCCATTCTTTAAGA	0.423																																																	0			18											111.0	111.0	111.0					18																	65180784		2203	4300	6503	63331764	SO:0001819	synonymous_variant	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1092T>C	18.37:g.65180784A>G		Somatic		Capture	Illumina HiSeq	Phase_I	63331764	Q17RH1|Q6P5Z3	Silent	SNP	ENST00000310045.7	37	CCDS11995.1																																																																																				DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
ZNF407	55628	hgsc.bcm.edu	37	18	72775977	72775977	+	Silent	SNP	C	C	T	rs527541602		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr18:72775977C>T	ENST00000299687.5	+	8	6300	c.6300C>T	c.(6298-6300)gaC>gaT	p.D2100D		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2100					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGTCAAGGACGGTGTCACCC	0.657																																																	0			18											36.0	42.0	40.0					18																	72775977		2145	4231	6376	70904965	SO:0001819	synonymous_variant	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.6300C>T	18.37:g.72775977C>T		Somatic		Capture	Illumina HiSeq	Phase_I	70904965	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																				ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
FGD5	152273	hgsc.bcm.edu	37	3	14949172	14949172	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr3:14949172T>C	ENST00000285046.5	+	10	3400	c.3290T>C	c.(3289-3291)aTt>aCt	p.I1097T	FGD5_ENST00000543601.1_Missense_Mutation_p.I856T|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1097					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CTGGTCCACATTGAGCACAGC	0.627																																																	0			3											51.0	57.0	55.0					3																	14949172		1987	4155	6142	14924176	SO:0001583	missense	152273			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3290T>C	3.37:g.14949172T>C	ENSP00000285046:p.Ile1097Thr	Somatic		Capture	Illumina HiSeq	Phase_I	14924176	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861150	0.71949	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.35048	1.33;1.33	5.24	5.24	0.73138	Dbl homology (DH) domain (1);Pleckstrin homology-type (1);	0.000000	0.56097	D	0.000024	T	0.51669	0.1688	L	0.55990	1.75	0.54753	D	0.999988	D;D	0.71674	0.996;0.998	D;D	0.66602	0.945;0.945	T	0.53767	-0.8392	10	0.66056	D	0.02	-20.0142	11.5498	0.50715	0.0:0.0:0.0:1.0	.	856;1097	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	T	1097;856	ENSP00000285046:I1097T;ENSP00000445949:I856T	ENSP00000285046:I1097T	I	+	2	0	FGD5	14924176	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.447000	0.66606	1.979000	0.57680	0.482000	0.46254	ATT		FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
SLC4A7	9497	hgsc.bcm.edu	37	3	27436596	27436596	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr3:27436596G>A	ENST00000295736.5	-	19	2757	c.2687C>T	c.(2686-2688)cCa>cTa	p.P896L	SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P772L|SLC4A7_ENST00000455077.1_Missense_Mutation_p.P777L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P888L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P781L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P905L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P777L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P446L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P892L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P892L	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	896					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.P896L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCCTCTCTCTGGATGAGTAGG	0.363																																																	1	Substitution - Missense(1)	central_nervous_system(1)	3											61.0	60.0	60.0					3																	27436596		2203	4300	6503	27411600	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2687C>T	3.37:g.27436596G>A	ENSP00000295736:p.Pro896Leu	Somatic		Capture	Illumina HiSeq	Phase_I	27411600	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596990	0.46318	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	6.06	4.1	0.47936	Bicarbonate transporter, C-terminal (1);	0.308279	0.38217	N	0.001764	T	0.76111	0.3942	M	0.66560	2.04	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.26041	0.14;0.063;0.063;0.083;0.075;0.061;0.115;0.14;0.033	B;B;B;B;B;B;B;B;B	0.29176	0.099;0.063;0.063;0.099;0.099;0.096;0.06;0.099;0.063	T	0.76958	-0.2766	10	0.72032	D	0.01	.	12.6185	0.56590	0.0:0.0:0.4453:0.5547	.	892;777;888;892;905;446;772;896;777	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	L	447;896;772;905;892;777;888;777;892;781;446;792	ENSP00000411031:P447L;ENSP00000295736:P896L;ENSP00000416368:P772L;ENSP00000390394:P905L;ENSP00000414797:P892L;ENSP00000394252:P777L;ENSP00000406605:P888L;ENSP00000407382:P777L;ENSP00000406804:P892L;ENSP00000395336:P781L;ENSP00000373429:P446L;ENSP00000388703:P792L	ENSP00000295736:P896L	P	-	2	0	SLC4A7	27411600	1.000000	0.71417	0.986000	0.45419	0.573000	0.36030	2.202000	0.42743	1.560000	0.49568	0.655000	0.94253	CCA		SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
GOLGA4	2803	hgsc.bcm.edu	37	3	37365330	37365330	+	Silent	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr3:37365330A>G	ENST00000361924.2	+	14	2327	c.1953A>G	c.(1951-1953)caA>caG	p.Q651Q	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Silent_p.Q673Q	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	651	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTGTGAACAAGAAAAAGAAA	0.368																																																	0			3											52.0	53.0	53.0					3																	37365330		2203	4300	6503	37340334	SO:0001819	synonymous_variant	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1953A>G	3.37:g.37365330A>G		Somatic		Capture	Illumina HiSeq	Phase_I	37340334	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Silent	SNP	ENST00000361924.2	37	CCDS2666.1																																																																																				GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
PCOLCE2	26577	hgsc.bcm.edu	37	3	142542457	142542457	+	Splice_Site	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr3:142542457C>T	ENST00000295992.3	-	7	1172	c.866G>A	c.(865-867)gGt>gAt	p.G289D	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	289					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGGTTTTAAACCTTAATTCAA	0.363																																																	0			3											61.0	65.0	63.0					3																	142542457		2203	4300	6503	144025147	SO:0001630	splice_region_variant	26577			AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.866-1G>A	3.37:g.142542457C>T		Somatic		Capture	Illumina HiSeq	Phase_I	144025147	B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	C	5.938	0.357014	0.11239	.	.	ENSG00000163710	ENST00000295992	T	0.19105	2.17	5.41	4.55	0.56014	.	0.237201	0.49305	N	0.000146	T	0.10723	0.0262	N	0.22421	0.69	0.80722	D	1	B	0.21520	0.057	B	0.14023	0.01	T	0.11060	-1.0603	10	0.08381	T	0.77	.	6.1878	0.20508	0.1371:0.6555:0.1327:0.0747	.	289	Q9UKZ9	PCOC2_HUMAN	D	289	ENSP00000295992:G289D	ENSP00000295992:G289D	G	-	2	0	PCOLCE2	144025147	1.000000	0.71417	0.999000	0.59377	0.589000	0.36550	1.595000	0.36708	1.518000	0.48934	0.655000	0.94253	GGT		PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363	Missense_Mutation
SLCO1B1	10599	hgsc.bcm.edu	37	12	21377773	21377773	+	Splice_Site	SNP	C	C	T	rs368052440		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:21377773C>T	ENST00000256958.2	+	14	1961	c.1865C>T	c.(1864-1866)tCa>tTa	p.S622L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	622					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	ACATCATTTTCGTAAGTTGTC	0.289																																																	0			12						C	LEU/SER	0,4406		0,0,2203	93.0	91.0	91.0		1865	2.8	1.0	12		91	1,8599		0,1,4299	no	missense-near-splice	SLCO1B1	NM_006446.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	622/692	21377773	1,13005	2203	4300	6503	21269040	SO:0001630	splice_region_variant	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1865+1C>T	12.37:g.21377773C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21269040	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.329494	0.24167	0.0	1.16E-4	ENSG00000134538	ENST00000256958	T	0.41065	1.01	3.66	2.76	0.32466	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.452872	0.21445	N	0.074438	T	0.28962	0.0719	N	0.20986	0.625	0.27379	N	0.955479	P	0.39391	0.671	B	0.38655	0.278	T	0.13388	-1.0511	10	0.66056	D	0.02	.	10.1303	0.42674	0.0:0.2185:0.7815:0.0	.	622	Q9Y6L6	SO1B1_HUMAN	L	622	ENSP00000256958:S622L	ENSP00000256958:S622L	S	+	2	0	SLCO1B1	21269040	1.000000	0.71417	0.994000	0.49952	0.339000	0.28857	2.021000	0.41020	0.726000	0.32339	-0.499000	0.04595	TCA		SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1	NM_006446	Missense_Mutation
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	12											91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	Somatic		Capture	Illumina HiSeq	Phase_I	25289551	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
PCED1B	91523	hgsc.bcm.edu	37	12	47629680	47629680	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:47629680G>A	ENST00000546455.1	+	4	1565	c.834G>A	c.(832-834)ccG>ccA	p.P278P	RP11-493L12.3_ENST00000547748.1_RNA|PCED1B_ENST00000432328.1_Silent_p.P278P			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	278	Pro-rich.						hydrolase activity (GO:0016787)										TCGAAGGGCCGCCCCAGGCCA	0.672																																																	0			12											19.0	23.0	22.0					12																	47629680		2190	4264	6454	45915947	SO:0001819	synonymous_variant	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.834G>A	12.37:g.47629680G>A		Somatic		Capture	Illumina HiSeq	Phase_I	45915947	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																				PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
TRPV4	59341	hgsc.bcm.edu	37	12	110221492	110221492	+	Missense_Mutation	SNP	G	G	C	rs571407723		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:110221492G>C	ENST00000418703.2	-	15	2644	c.2550C>G	c.(2548-2550)aaC>aaG	p.N850K	TRPV4_ENST00000392719.2_Missense_Mutation_p.N803K|TRPV4_ENST00000536838.1_Missense_Mutation_p.N816K|TRPV4_ENST00000346520.2_Missense_Mutation_p.N790K|TRPV4_ENST00000261740.2_Missense_Mutation_p.N850K|TRPV4_ENST00000537083.1_Missense_Mutation_p.N790K|TRPV4_ENST00000541794.1_Missense_Mutation_p.N803K|TRPV4_ENST00000544971.1_Missense_Mutation_p.N743K	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	850					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGCAGCGGGGGTTCCCCATGC	0.652																																																	0			12											68.0	57.0	60.0					12																	110221492		2203	4300	6503	108705875	SO:0001583	missense	59341			AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.2550C>G	12.37:g.110221492G>C	ENSP00000406191:p.Asn850Lys	Somatic		Capture	Illumina HiSeq	Phase_I	108705875	B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	9.557	1.117341	0.20795	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.88354	-2.36;-2.36;-2.16;-2.37;-2.16;-2.37;-2.16;-2.36	5.39	0.116	0.14647	.	0.424674	0.24005	N	0.042436	T	0.72661	0.3488	N	0.08118	0	0.24486	N	0.994328	B;B;B;B;B	0.14012	0.0;0.0;0.0;0.0;0.009	B;B;B;B;B	0.15870	0.001;0.0;0.0;0.001;0.014	T	0.60271	-0.7296	10	0.33940	T	0.23	-4.5003	6.2548	0.20867	0.2267:0.3715:0.4018:0.0	.	790;850;743;803;816	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	K	850;850;803;790;743;790;803;816	ENSP00000406191:N850K;ENSP00000261740:N850K;ENSP00000376480:N803K;ENSP00000319003:N790K;ENSP00000443611:N743K;ENSP00000442738:N790K;ENSP00000442167:N803K;ENSP00000444336:N816K	ENSP00000261740:N850K	N	-	3	2	TRPV4	108705875	0.008000	0.16893	0.986000	0.45419	0.299000	0.27559	-0.034000	0.12225	-0.012000	0.14223	-1.080000	0.02220	AAC		TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625	
PTPN11	5781	hgsc.bcm.edu	37	12	112888190	112888190	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:112888190A>G	ENST00000351677.2	+	3	404	c.206A>G	c.(205-207)gAg>gGg	p.E69G	PTPN11_ENST00000392597.1_Missense_Mutation_p.E69G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	69	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.		E -> K (in JMML; also in myelodysplastic syndrome). {ECO:0000269|PubMed:12717436}.|E -> Q (in NS1). {ECO:0000269|PubMed:12634870}.		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						TATGGAGGGGAGAAATTTGCC	0.428			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	0			12											152.0	141.0	145.0					12																	112888190		2203	4300	6503	111372573	SO:0001583	missense	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.206A>G	12.37:g.112888190A>G	ENSP00000340944:p.Glu69Gly	Somatic		Capture	Illumina HiSeq	Phase_I	111372573	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	32	5.124235	0.94429	.	.	ENSG00000179295	ENST00000392597;ENST00000351677;ENST00000392596	D;D	0.89270	-2.49;-2.49	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.94348	0.8183	M	0.76938	2.355	0.80722	D	1	P;D	0.89917	0.952;1.0	P;D	0.78314	0.672;0.991	D	0.94883	0.8041	10	0.87932	D	0	.	16.3291	0.83001	1.0:0.0:0.0:0.0	.	69;69	Q06124-2;Q06124-3	.;.	G	69	ENSP00000376376:E69G;ENSP00000340944:E69G	ENSP00000340944:E69G	E	+	2	0	PTPN11	111372573	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.332000	0.96446	2.257000	0.74773	0.528000	0.53228	GAG		PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
IQCD	115811	hgsc.bcm.edu	37	12	113645406	113645406	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:113645406T>C	ENST00000416617.2	-	2	756	c.566A>G	c.(565-567)gAg>gGg	p.E189G	IQCD_ENST00000299732.2_Missense_Mutation_p.E189G|IQCD_ENST00000546692.1_Missense_Mutation_p.E189G			Q96DY2	IQCD_HUMAN	IQ motif containing D	189										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ACCACGGAGCTCTATCAGGCT	0.478																																																	0			12											100.0	95.0	97.0					12																	113645406		2203	4300	6503	112129789	SO:0001583	missense	115811			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.566A>G	12.37:g.113645406T>C	ENSP00000400669:p.Glu189Gly	Somatic		Capture	Illumina HiSeq	Phase_I	112129789	Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37		.	.	.	.	.	.	.	.	.	.	T	20.3	3.963493	0.74016	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.12361	2.69;2.69;2.69	5.25	5.25	0.73442	.	0.137587	0.47852	D	0.000205	T	0.37265	0.0997	M	0.74258	2.255	0.54753	D	0.999985	D;D	0.89917	0.999;1.0	D;D	0.72982	0.974;0.979	T	0.20773	-1.0265	10	0.87932	D	0	-29.2873	14.1294	0.65242	0.0:0.0:0.0:1.0	.	189;189	F8VZV9;Q96DY2-2	.;.	G	189	ENSP00000299732:E189G;ENSP00000400669:E189G;ENSP00000446623:E189G	ENSP00000299732:E189G	E	-	2	0	IQCD	112129789	0.993000	0.37304	0.044000	0.18714	0.004000	0.04260	4.086000	0.57664	1.977000	0.57605	0.460000	0.39030	GAG		IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451	
EP400	57634	hgsc.bcm.edu	37	12	132554068	132554068	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:132554068G>A	ENST00000333577.4	+	52	9120	c.9011G>A	c.(9010-9012)gGc>gAc	p.G3004D	EP400_ENST00000389561.2_Missense_Mutation_p.G2968D|EP400_ENST00000330386.6_Missense_Mutation_p.G2887D|EP400_ENST00000332482.4_Missense_Mutation_p.G2931D|EP400_ENST00000389562.2_Missense_Mutation_p.G2967D			Q96L91	EP400_HUMAN	E1A binding protein p400	3004					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACCACCCCTGGCGCGCAGCAG	0.652																																																	0			12											74.0	75.0	75.0					12																	132554068		2203	4300	6503	131120021	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.9011G>A	12.37:g.132554068G>A	ENSP00000333602:p.Gly3004Asp	Somatic		Capture	Illumina HiSeq	Phase_I	131120021	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	12.47	1.947282	0.34377	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.90004	-2.58;-2.58;-2.6;-2.58;-2.57	5.01	5.01	0.66863	.	0.776328	0.12125	N	0.497365	D	0.90061	0.6896	N	0.19112	0.55	0.37178	D	0.903355	D;P;P;P	0.89917	1.0;0.763;0.763;0.763	D;P;P;P	0.83275	0.996;0.463;0.463;0.463	D	0.89882	0.4031	10	0.56958	D	0.05	.	13.1353	0.59405	0.0:0.2996:0.7004:0.0	.	3004;2968;2887;2967	Q96L91;Q96L91-2;Q96L91-4;Q96L91-5	EP400_HUMAN;.;.;.	D	3004;2968;2967;2931;2887;2968	ENSP00000333602:G3004D;ENSP00000374212:G2968D;ENSP00000374213:G2967D;ENSP00000331737:G2931D;ENSP00000330620:G2887D	ENSP00000330620:G2887D	G	+	2	0	EP400	131120021	.	.	0.995000	0.50966	0.006000	0.05464	.	.	2.295000	0.77249	0.491000	0.48974	GGC		EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
FBN1	2200	hgsc.bcm.edu	37	15	48773887	48773887	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr15:48773887C>T	ENST00000316623.5	-	32	4384	c.3929G>A	c.(3928-3930)gGc>gAc	p.G1310D		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1310	EGF-like 21; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCCGGAGTAGCCCATATCACA	0.373																																																	0			15	GRCh37	CM077262	FBN1	M							138.0	135.0	136.0					15																	48773887		2198	4296	6494	46561179	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.3929G>A	15.37:g.48773887C>T	ENSP00000325527:p.Gly1310Asp	Somatic		Capture	Illumina HiSeq	Phase_I	46561179	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640429	0.87859	.	.	ENSG00000166147	ENST00000316623	D	0.92397	-3.03	5.39	5.39	0.77823	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97252	0.9898	10	0.87932	D	0	.	19.0959	0.93251	0.0:1.0:0.0:0.0	.	1310	P35555	FBN1_HUMAN	D	1310	ENSP00000325527:G1310D	ENSP00000325527:G1310D	G	-	2	0	FBN1	46561179	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.727000	0.84838	2.674000	0.91012	0.467000	0.42956	GGC		FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
PTPLAD1	51495	hgsc.bcm.edu	37	15	65849211	65849211	+	Silent	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr15:65849211A>G	ENST00000261875.5	+	4	505	c.339A>G	c.(337-339)gaA>gaG	p.E113E	PTPLAD1_ENST00000565299.1_Silent_p.E151E|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000442729.2_Intron|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000568793.1_Silent_p.E88E	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	113					activation of JUN kinase activity (GO:0007257)|fatty acid biosynthetic process (GO:0006633)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|positive regulation of GTPase activity (GO:0043547)|Rac protein signal transduction (GO:0016601)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)	GTPase activator activity (GO:0005096)|lyase activity (GO:0016829)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGCTGGATGAATCTGATGCGG	0.473																																																	0			15											96.0	91.0	92.0					15																	65849211		1959	4161	6120	63636264	SO:0001819	synonymous_variant	51495				CCDS45282.1	15q22.2	2005-11-11				ENSG00000074696			24175	protein-coding gene	gene with protein product		615940				10747961, 11042152	Standard	NM_016395		Approved	B-ind1, HSPC121	uc002apc.3	Q9P035		ENST00000261875.5:c.339A>G	15.37:g.65849211A>G		Somatic		Capture	Illumina HiSeq	Phase_I	63636264	A0PJA1|B4DRF4|Q280Z3|Q6PD63|Q8IUI5|Q8NC86|Q8NCB1|Q96T12|Q9NQA7	Silent	SNP	ENST00000261875.5	37	CCDS45282.1																																																																																				PTPLAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419739.1	NM_016395	
FAM47C	442444	hgsc.bcm.edu	37	X	37026704	37026704	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chrX:37026704A>G	ENST00000358047.3	+	1	273	c.221A>G	c.(220-222)gAc>gGc	p.D74G		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	74										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TGTCGCCGTGACGAGTTTTTA	0.532																																																	0			X											78.0	71.0	73.0					X																	37026704		2202	4300	6502	36936625	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.221A>G	X.37:g.37026704A>G	ENSP00000367913:p.Asp74Gly	Somatic		Capture	Illumina HiSeq	Phase_I	36936625	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	A	9.225	1.034436	0.19590	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	0.502	0.502	0.16932	.	.	.	.	.	T	0.22044	0.0531	L	0.56769	1.78	0.09310	N	1	P	0.41313	0.745	B	0.43623	0.425	T	0.13872	-1.0493	8	0.32370	T	0.25	.	.	.	.	.	74	Q5HY64	FA47C_HUMAN	G	74	ENSP00000367913:D74G	ENSP00000367913:D74G	D	+	2	0	FAM47C	36936625	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.154000	0.16343	0.400000	0.25396	0.242000	0.17961	GAC		FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
PCDH19	57526	hgsc.bcm.edu	37	X	99551325	99551325	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chrX:99551325G>A	ENST00000373034.4	-	6	5072	c.3397C>T	c.(3397-3399)Cgc>Tgc	p.R1133C	PCDH19_ENST00000255531.7_Missense_Mutation_p.R1086C|PCDH19_ENST00000420881.2_Missense_Mutation_p.R1085C|PCDH19_ENST00000464981.1_5'Flank	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1133					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCTTTGTTGCGACCTTCCTTC	0.512																																																	0			X											125.0	118.0	120.0					X																	99551325		2025	4167	6192	99437981	SO:0001583	missense	57575			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.3397C>T	X.37:g.99551325G>A	ENSP00000362125:p.Arg1133Cys	Somatic		Capture	Illumina HiSeq	Phase_I	99437981	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768672	0.31320	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.54279	0.58;0.59;0.58	5.52	4.65	0.58169	.	0.188065	0.45867	N	0.000334	T	0.44829	0.1312	L	0.27053	0.805	0.80722	D	1	D;B;B	0.69078	0.997;0.007;0.004	P;B;B	0.50231	0.635;0.003;0.001	T	0.46359	-0.9197	10	0.87932	D	0	.	6.1926	0.20532	0.1553:0.0:0.6211:0.2237	.	1133;1086;1085	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	C	1085;1133;1086	ENSP00000400327:R1085C;ENSP00000362125:R1133C;ENSP00000255531:R1086C	ENSP00000255531:R1086C	R	-	1	0	PCDH19	99437981	1.000000	0.71417	0.805000	0.32314	0.923000	0.55619	2.070000	0.41491	1.082000	0.41137	0.600000	0.82982	CGC		PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
SMARCA1	6594	hgsc.bcm.edu	37	X	128599877	128599877	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chrX:128599877G>A	ENST00000371122.4	-	22	2890	c.2761C>T	c.(2761-2763)Cgt>Tgt	p.R921C	SMARCA1_ENST00000371123.1_Missense_Mutation_p.R909C|SMARCA1_ENST00000371121.3_Missense_Mutation_p.R909C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	921					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						GCTTCTCCACGTTCAATTTGA	0.323																																																	0			X											162.0	140.0	147.0					X																	128599877		2203	4300	6503	128427558	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2761C>T	X.37:g.128599877G>A	ENSP00000360163:p.Arg921Cys	Somatic		Capture	Illumina HiSeq	Phase_I	128427558	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.631321	0.67015	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91843	-2.92;-2.92;-2.91;-2.91	5.73	4.86	0.63082	SLIDE (1);Homeodomain-like (1);	0.000000	0.64402	D	0.000009	D	0.95878	0.8658	M	0.86028	2.79	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.68943	0.961;0.961;0.934;0.961	D	0.95903	0.8917	10	0.72032	D	0.01	-7.2706	13.0145	0.58749	0.0:0.0:0.7073:0.2927	.	900;921;909;921	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	C	909;909;921;900	ENSP00000360162:R909C;ENSP00000360164:R909C;ENSP00000360163:R921C;ENSP00000404275:R900C	ENSP00000360162:R909C	R	-	1	0	SMARCA1	128427558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.160000	0.64929	1.154000	0.42482	0.600000	0.82982	CGT		SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
ZNF280C	55609	hgsc.bcm.edu	37	X	129377605	129377605	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chrX:129377605A>G	ENST00000370978.4	-	5	466	c.313T>C	c.(313-315)Tcg>Ccg	p.S105P		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	105	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						AATCTAGGCGAGGCAGCCACT	0.353																																																	0			X											63.0	66.0	65.0					X																	129377605		2203	4300	6503	129205286	SO:0001583	missense	55609			AL834333	CCDS14622.1	Xq25	2008-05-02	2007-09-20	2007-09-20	ENSG00000056277	ENSG00000056277			25955	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 3 (Drosophila)"""	SUHW3		12477932	Standard	NM_017666		Approved	FLJ20095, ZNF633	uc004evm.3	Q8ND82	OTTHUMG00000022393	ENST00000370978.4:c.313T>C	X.37:g.129377605A>G	ENSP00000360017:p.Ser105Pro	Somatic		Capture	Illumina HiSeq	Phase_I	129205286	A8K2V8|Q9NXR3	Missense_Mutation	SNP	ENST00000370978.4	37	CCDS14622.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.581225	0.28180	.	.	ENSG00000056277	ENST00000066465;ENST00000370978;ENST00000447817	T;T	0.25912	1.77;1.77	3.62	3.62	0.41486	.	.	.	.	.	T	0.29491	0.0735	L	0.39898	1.24	0.09310	N	1	B;P	0.42993	0.004;0.797	B;P	0.51101	0.021;0.659	T	0.07046	-1.0793	9	0.34782	T	0.22	.	7.8624	0.29517	1.0:0.0:0.0:0.0	.	105;105	Q9UJJ2;Q8ND82	.;Z280C_HUMAN	P	105	ENSP00000360017:S105P;ENSP00000408521:S105P	ENSP00000066465:S105P	S	-	1	0	ZNF280C	129205286	0.006000	0.16342	0.013000	0.15412	0.011000	0.07611	1.588000	0.36633	1.441000	0.47550	0.412000	0.27726	TCG		ZNF280C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058251.1	NM_017666	
CDR1	1038	hgsc.bcm.edu	37	X	139865857	139865857	+	Missense_Mutation	SNP	T	T	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chrX:139865857T>A	ENST00000370532.2	-	1	866	c.675A>T	c.(673-675)agA>agT	p.R225S		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	225										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGAAAAATCTACGTCTTC	0.443																																																	0			X											119.0	113.0	115.0					X																	139865857		2203	4300	6503	139693523	SO:0001583	missense	1038				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.675A>T	X.37:g.139865857T>A	ENSP00000359563:p.Arg225Ser	Somatic		Capture	Illumina HiSeq	Phase_I	139693523	Q5JXH6	Missense_Mutation	SNP	ENST00000370532.2	37	CCDS14670.1	.	.	.	.	.	.	.	.	.	.	T	15.46	2.841546	0.51057	.	.	ENSG00000184258	ENST00000370532	.	.	.	4.58	1.97	0.26223	.	.	.	.	.	T	0.15349	0.0370	N	0.08118	0	0.09310	N	1	B	0.21606	0.058	B	0.16722	0.016	T	0.25152	-1.0140	7	.	.	.	.	3.8074	0.08783	0.1919:0.116:0.0:0.6921	.	225	P51861	CDR1_HUMAN	S	225	.	.	R	-	3	2	CDR1	139693523	0.000000	0.05858	0.001000	0.08648	0.184000	0.23303	0.560000	0.23500	0.664000	0.31047	0.345000	0.21793	AGA		CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065	
FAT4	79633	hgsc.bcm.edu	37	4	126241591	126241591	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr4:126241591C>T	ENST00000394329.3	+	1	4038	c.4025C>T	c.(4024-4026)tCc>tTc	p.S1342F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1342	Cadherin 13. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAACTGATTCCGATTCAGGT	0.393																																																	0			4											139.0	132.0	134.0					4																	126241591		1893	4109	6002	126461041	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.4025C>T	4.37:g.126241591C>T	ENSP00000377862:p.Ser1342Phe	Somatic		Capture	Illumina HiSeq	Phase_I	126461041	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121238	0.37436	.	.	ENSG00000196159	ENST00000394329	T	0.01887	4.58	4.83	3.98	0.46160	Cadherin (4);Cadherin-like (1);	0.000000	0.31624	U	0.007321	T	0.07638	0.0192	L	0.52573	1.65	0.80722	D	1	D	0.55385	0.971	P	0.62560	0.904	T	0.10776	-1.0615	10	0.59425	D	0.04	.	12.71	0.57083	0.0:0.9212:0.0:0.0788	.	1342	Q6V0I7	FAT4_HUMAN	F	1342	ENSP00000377862:S1342F	ENSP00000377862:S1342F	S	+	2	0	FAT4	126461041	1.000000	0.71417	0.536000	0.28039	0.877000	0.50540	4.537000	0.60643	1.262000	0.44165	0.655000	0.94253	TCC		FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
PCDH18	54510	hgsc.bcm.edu	37	4	138451837	138451837	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr4:138451837C>T	ENST00000344876.4	-	1	1792	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PCDH18_ENST00000412923.2_Missense_Mutation_p.R469Q|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.R249Q|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	469	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AAATTCATATCGGCTTCTCTG	0.428																																																	0			4											125.0	123.0	124.0					4																	138451837		2203	4300	6503	138671287	SO:0001583	missense	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.1406G>A	4.37:g.138451837C>T	ENSP00000355082:p.Arg469Gln	Somatic		Capture	Illumina HiSeq	Phase_I	138671287	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050864	0.36181	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846	T;T;T	0.60672	0.17;0.17;0.17	5.93	5.08	0.68730	Cadherin (3);Cadherin-like (1);	0.216136	0.22434	N	0.060103	T	0.39860	0.1094	N	0.10945	0.07	0.80722	D	1	B;B;B	0.17667	0.005;0.003;0.023	B;B;B	0.14578	0.011;0.003;0.007	T	0.15492	-1.0435	10	0.29301	T	0.29	.	15.5028	0.75713	0.0:0.933:0.0:0.067	.	249;469;469	D6RIG4;Q9HCL0-2;Q9HCL0	.;.;PCD18_HUMAN	Q	469;469;249	ENSP00000355082:R469Q;ENSP00000390688:R469Q;ENSP00000425903:R249Q	ENSP00000355082:R469Q	R	-	2	0	PCDH18	138671287	0.999000	0.42202	0.987000	0.45799	0.993000	0.82548	3.974000	0.56852	1.479000	0.48272	0.563000	0.77884	CGA		PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
ADAM29	11086	hgsc.bcm.edu	37	4	175898913	175898913	+	Missense_Mutation	SNP	C	C	T	rs142711835		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr4:175898913C>T	ENST00000359240.3	+	5	2907	c.2237C>T	c.(2236-2238)aCg>aTg	p.T746M	ADAM29_ENST00000445694.1_Missense_Mutation_p.T746M|ADAM29_ENST00000514159.1_Missense_Mutation_p.T746M|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.T746M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	746	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T746M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACGCCTTCCCAG	0.537																																					Ovarian(140;1727 1835 21805 25838 41440)												2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4											149.0	132.0	138.0					4																	175898913		2203	4300	6503	176135488	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2237C>T	4.37:g.175898913C>T	ENSP00000352177:p.Thr746Met	Somatic		Capture	Illumina HiSeq	Phase_I	176135488	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866447	0.17250	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	1.54	0.582	0.17412	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.45998	0.5	T	0.53005	-0.8499	8	.	.	.	.	6.1783	0.20457	0.0:0.802:0.0:0.198	.	746	Q9UKF5	ADA29_HUMAN	M	746	ENSP00000352177:T746M;ENSP00000414544:T746M;ENSP00000384229:T746M;ENSP00000423517:T746M	.	T	+	2	0	ADAM29	176135488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.798000	0.04565	-0.059000	0.13154	0.478000	0.44815	ACG		ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
NRBP1	29959	hgsc.bcm.edu	37	2	27664625	27664625	+	Silent	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:27664625C>T	ENST00000233557.3	+	19	2386	c.1554C>T	c.(1552-1554)ttC>ttT	p.F518F	NRBP1_ENST00000379863.3_Silent_p.F526F|KRTCAP3_ENST00000407293.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank|NRBP1_ENST00000379852.3_Silent_p.F518F|KRTCAP3_ENST00000543753.1_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	518					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TGAACAAGTTCAATTTTGCCA	0.562																																																	0			2											173.0	175.0	174.0					2																	27664625		2203	4300	6503	27518129	SO:0001819	synonymous_variant	29959			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1554C>T	2.37:g.27664625C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27518129	B3KV40|D6W558|Q53FZ5|Q96SU3	Silent	SNP	ENST00000233557.3	37	CCDS1753.1																																																																																				NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392	
FAM179A	165186	hgsc.bcm.edu	37	2	29221082	29221082	+	Silent	SNP	G	G	T	rs201622059		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:29221082G>T	ENST00000379558.4	+	3	453	c.102G>T	c.(100-102)ccG>ccT	p.P34P	FAM179A_ENST00000403861.2_Silent_p.P34P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	34										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGTGCTCCCGCCTGGAAGCA	0.652																																																	0			2											20.0	22.0	22.0					2																	29221082		1949	4142	6091	29074586	SO:0001819	synonymous_variant	165186			AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.102G>T	2.37:g.29221082G>T		Somatic		Capture	Illumina HiSeq	Phase_I	29074586	Q6ZUF5	Silent	SNP	ENST00000379558.4	37	CCDS1769.2																																																																																				FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280	
LRP2	4036	hgsc.bcm.edu	37	2	170044659	170044659	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:170044659A>G	ENST00000263816.3	-	49	9434	c.9149T>C	c.(9148-9150)gTc>gCc	p.V3050A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3050	LDL-receptor class A 24. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTCATCACAGACGAAGGTTTT	0.517																																																	0			2											149.0	136.0	141.0					2																	170044659		2203	4300	6503	169752905	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9149T>C	2.37:g.170044659A>G	ENSP00000263816:p.Val3050Ala	Somatic		Capture	Illumina HiSeq	Phase_I	169752905	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	7.493	0.651109	0.14516	.	.	ENSG00000081479	ENST00000263816	D	0.95885	-3.84	5.68	-0.881	0.10607	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.728006	0.13884	N	0.356140	D	0.92747	0.7694	M	0.64260	1.97	0.09310	N	0.999999	B	0.29341	0.242	B	0.36766	0.232	T	0.81165	-0.1057	10	0.09338	T	0.73	.	10.3329	0.43833	0.6849:0.0:0.3151:0.0	.	3050	P98164	LRP2_HUMAN	A	3050	ENSP00000263816:V3050A	ENSP00000263816:V3050A	V	-	2	0	LRP2	169752905	0.997000	0.39634	0.004000	0.12327	0.479000	0.33129	3.878000	0.56130	-0.137000	0.11455	0.528000	0.53228	GTC		LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
TTN	7273	hgsc.bcm.edu	37	2	179495016	179495016	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:179495016C>T	ENST00000591111.1	-	189	39534	c.39310G>A	c.(39310-39312)Gat>Aat	p.D13104N	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D5872N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D5805N|TTN_ENST00000460472.2_Missense_Mutation_p.D5680N|TTN_ENST00000342992.6_Missense_Mutation_p.D12177N|TTN_ENST00000589042.1_Missense_Mutation_p.D14745N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13104					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTGGAAATCCACCCCACCC	0.393																																																	0			2											84.0	88.0	87.0					2																	179495016		1860	4086	5946	179203261	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.39310G>A	2.37:g.179495016C>T	ENSP00000465570:p.Asp13104Asn	Somatic		Capture	Illumina HiSeq	Phase_I	179203261	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.21	3.059148	0.55325	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43033	0.1229	L	0.57536	1.79	0.49213	D	0.999765	B;B;B;B	0.31383	0.321;0.321;0.321;0.321	B;B;B;B	0.33454	0.164;0.164;0.164;0.164	T	0.33929	-0.9849	9	0.87932	D	0	.	20.5948	0.99439	0.0:1.0:0.0:0.0	.	5680;5805;5872;13104	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	12177;5680;5872;5805;5680	ENSP00000343764:D12177N;ENSP00000434586:D5680N;ENSP00000340554:D5872N;ENSP00000352154:D5805N	ENSP00000340554:D5872N	D	-	1	0	TTN	179203261	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.044000	0.71012	2.873000	0.98535	0.563000	0.77884	GAT		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179669343	179669343	+	Silent	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:179669343C>T	ENST00000591111.1	-	2	251	c.27G>A	c.(25-27)acG>acA	p.T9T	TTN_ENST00000342175.6_Silent_p.T9T|TTN_ENST00000360870.5_Silent_p.T9T|TTN_ENST00000359218.5_Silent_p.T9T|TTN_ENST00000460472.2_Silent_p.T9T|TTN_ENST00000342992.6_Silent_p.T9T|TTN_ENST00000589042.1_Silent_p.T9T			Q8WZ42	TITIN_HUMAN	titin	32620	Ig-like 1.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACGGCTGCGTAAACGTCG	0.448																																																	0			2											125.0	103.0	110.0					2																	179669343		2203	4300	6503	179377588	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.27G>A	2.37:g.179669343C>T		Somatic		Capture	Illumina HiSeq	Phase_I	179377588	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	hgsc.bcm.edu	37	2	179770212	179770212	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:179770212C>T	ENST00000409284.1	-	8	1226	c.1109G>A	c.(1108-1110)gGa>gAa	p.G370E	CCDC141_ENST00000420890.2_Missense_Mutation_p.G370E			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	370										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTCAACTCTTCCAAGTACATC	0.363																																																	0			2																																								179478457	SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1109G>A	2.37:g.179770212C>T	ENSP00000386503:p.Gly370Glu	Somatic		Capture	Illumina HiSeq	Phase_I	179478457	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000409284.1	37		.	.	.	.	.	.	.	.	.	.	C	16.05	3.013900	0.54468	.	.	ENSG00000163492	ENST00000420890;ENST00000443758;ENST00000446116;ENST00000409284	T;T	0.40756	1.02;1.64	5.8	5.8	0.92144	.	.	.	.	.	T	0.37945	0.1022	M	0.67953	2.075	0.80722	D	1	P	0.43169	0.8	B	0.36534	0.227	T	0.29274	-1.0017	8	.	.	.	.	9.4139	0.38510	0.0:0.8754:0.0:0.1245	.	370	B8ZZB3	.	E	370;370;305;370	ENSP00000395995:G370E;ENSP00000390190:G370E	.	G	-	2	0	CCDC141	179478457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.380000	0.44327	2.745000	0.94114	0.650000	0.86243	GGA		CCDC141-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000335873.1	NM_173648	
ERBB4	2066	hgsc.bcm.edu	37	2	212293151	212293151	+	Missense_Mutation	SNP	T	T	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:212293151T>A	ENST00000342788.4	-	22	3011	c.2701A>T	c.(2701-2703)Agt>Tgt	p.S901C	ERBB4_ENST00000436443.1_Missense_Mutation_p.S901C|ERBB4_ENST00000402597.1_Missense_Mutation_p.S891C	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	901	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CAAACGTCACTCTGATGGGTG	0.299										TSP Lung(8;0.080)																																							0			2											90.0	92.0	91.0					2																	212293151		2203	4294	6497	212001396	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2701A>T	2.37:g.212293151T>A	ENSP00000342235:p.Ser901Cys	Somatic		Capture	Illumina HiSeq	Phase_I	212001396	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528108	0.85706	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.89485	-2.52;-2.52;-2.52	5.59	5.59	0.84812	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.036917	0.85682	D	0.000000	D	0.94443	0.8212	M	0.80508	2.5	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.77004	0.981;0.984;0.981;0.989	D	0.95116	0.8242	10	0.87932	D	0	.	15.7639	0.78110	0.0:0.0:0.0:1.0	.	891;891;901;901	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	C	901;901;891	ENSP00000342235:S901C;ENSP00000403204:S901C;ENSP00000385565:S891C	ENSP00000342235:S901C	S	-	1	0	ERBB4	212001396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.865000	0.87049	2.125000	0.65367	0.528000	0.53228	AGT		ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ACSL3	2181	hgsc.bcm.edu	37	2	223783820	223783820	+	Silent	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:223783820C>A	ENST00000357430.3	+	7	1236	c.705C>A	c.(703-705)atC>atA	p.I235I	AC097461.4_ENST00000446709.1_RNA|ACSL3_ENST00000392066.3_Silent_p.I235I	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	235					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCACATCATCACTGTTGATG	0.498			T	ETV1	prostate																																			Dom	yes		2	2q36	2181	acyl-CoA synthetase long-chain family member 3		E	0			2											119.0	101.0	107.0					2																	223783820		2203	4300	6503	223492064	SO:0001819	synonymous_variant	2181			D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.705C>A	2.37:g.223783820C>A		Somatic		Capture	Illumina HiSeq	Phase_I	223492064	Q60I92|Q8IUM9	Silent	SNP	ENST00000357430.3	37	CCDS2455.1																																																																																				ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
DGKD	8527	hgsc.bcm.edu	37	2	234296986	234296986	+	Silent	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:234296986A>G	ENST00000264057.2	+	2	252	c.240A>G	c.(238-240)cgA>cgG	p.R80R	DGKD_ENST00000489613.1_3'UTR|DGKD_ENST00000409813.3_Silent_p.R36R|AC019221.4_ENST00000442524.1_RNA	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	80	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCGAGGGCGAACGCTTTACT	0.512																																																	0			2											106.0	100.0	102.0					2																	234296986		2203	4300	6503	233961725	SO:0001819	synonymous_variant	8527			D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.240A>G	2.37:g.234296986A>G		Somatic		Capture	Illumina HiSeq	Phase_I	233961725	Q14158|Q6PK55|Q8NG53	Silent	SNP	ENST00000264057.2	37	CCDS2504.1																																																																																				DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257072.2	NM_003648	
ILKAP	80895	hgsc.bcm.edu	37	2	239092718	239092718	+	Missense_Mutation	SNP	C	C	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:239092718C>G	ENST00000254654.3	-	7	744	c.569G>C	c.(568-570)tGc>tCc	p.C190S		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	190	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GTCCAAAAGGCATCTCTTCAC	0.418																																																	0			2											135.0	132.0	133.0					2																	239092718		2203	4300	6503	238757457	SO:0001583	missense	80895			AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.569G>C	2.37:g.239092718C>G	ENSP00000254654:p.Cys190Ser	Somatic		Capture	Illumina HiSeq	Phase_I	238757457	B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983431	0.74474	.	.	ENSG00000132323	ENST00000254654;ENST00000450411;ENST00000457149	T;T;T	0.16457	2.34;2.34;2.34	5.42	5.42	0.78866	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.10035	0.0246	N	0.04880	-0.145	0.80722	D	1	B	0.28470	0.213	B	0.28139	0.086	T	0.30592	-0.9973	10	0.28530	T	0.3	0.0342	16.1473	0.81578	0.0:1.0:0.0:0.0	.	190	Q9H0C8	ILKAP_HUMAN	S	190;7;188	ENSP00000254654:C190S;ENSP00000406254:C7S;ENSP00000395301:C188S	ENSP00000254654:C190S	C	-	2	0	ILKAP	238757457	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.247000	0.58750	2.549000	0.85964	0.655000	0.94253	TGC		ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768	
CDKN2A	1029	hgsc.bcm.edu	37	9	21968228	21968228	+	Nonstop_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr9:21968228T>C	ENST00000304494.5	-	3	741	c.471A>G	c.(469-471)tgA>tgG	p.*157W	CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000578845.2_Nonstop_Mutation_p.*106W|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000494262.1_Nonstop_Mutation_p.*106W|CDKN2A_ENST00000498124.1_3'UTR|CDKN2A_ENST00000579122.1_Missense_Mutation_p.K133E|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000498628.2_Nonstop_Mutation_p.*106W|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(4)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTGGTTCTTTCAATCGGGGA	0.557		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1320	Whole gene deletion(1316)|Unknown(4)	haematopoietic_and_lymphoid_tissue(277)|skin(165)|central_nervous_system(163)|lung(140)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(45)|ovary(33)|breast(30)|kidney(29)|pancreas(29)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	9											98.0	96.0	96.0					9																	21968228		2203	4300	6503	21958228	SO:0001578	stop_lost	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.471A>G	9.37:g.21968228T>C	ENSP00000307101:p.*157Cysext*13	Somatic		Capture	Illumina HiSeq	Phase_I	21958228	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	1.489	-0.555047	0.03967	.	.	ENSG00000147889	ENST00000304494	.	.	.	2.65	0.029	0.14161	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.2576	0.06837	0.2383:0.0:0.2459:0.5158	.	.	.	.	W	157	.	.	X	-	3	0	CDKN2A	21958228	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.584000	0.05800	0.005000	0.14708	0.528000	0.53228	TGA		CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	
ODF2	4957	hgsc.bcm.edu	37	9	131262506	131262506	+	Missense_Mutation	SNP	C	C	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr9:131262506C>G	ENST00000434106.3	+	21	2825	c.2462C>G	c.(2461-2463)cCc>cGc	p.P821R	ODF2_ENST00000604420.1_Missense_Mutation_p.P821R|ODF2_ENST00000351030.3_Missense_Mutation_p.P816R|ODF2_ENST00000393527.3_Missense_Mutation_p.P797R|ODF2_ENST00000372807.5_Missense_Mutation_p.P816R|ODF2_ENST00000444119.2_Missense_Mutation_p.P797R	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	821					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						ACTAGCTCTCCCATCCGCTCC	0.552																																																	0			9											210.0	173.0	185.0					9																	131262506		2203	4300	6503	130302327	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.2462C>G	9.37:g.131262506C>G	ENSP00000403453:p.Pro821Arg	Somatic		Capture	Illumina HiSeq	Phase_I	130302327	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124756	0.56613	.	.	ENSG00000136811	ENST00000351030;ENST00000372796;ENST00000303890	T;T;T	0.31510	1.56;1.49;1.55	5.5	5.5	0.81552	.	0.146167	0.47093	D	0.000252	T	0.44726	0.1307	L	0.29908	0.895	0.80722	D	1	B;D;B;D	0.76494	0.001;0.999;0.018;0.998	B;D;B;D	0.66351	0.003;0.94;0.008;0.943	T	0.41610	-0.9499	10	0.87932	D	0	-17.391	18.3854	0.90465	0.0:1.0:0.0:0.0	.	816;166;821;797	Q5BJF6-4;Q6PJQ8;Q5BJF6;Q5BJF6-3	.;.;ODFP2_HUMAN;.	R	816;821;797	ENSP00000342581:P816R;ENSP00000361882:P821R;ENSP00000307781:P797R	ENSP00000307781:P797R	P	+	2	0	ODF2	130302327	0.778000	0.28640	1.000000	0.80357	0.890000	0.51754	2.680000	0.46918	2.581000	0.87130	0.561000	0.74099	CCC		ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		
RALGDS	5900	hgsc.bcm.edu	37	9	135982063	135982063	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr9:135982063G>T	ENST00000372050.3	-	8	1507	c.1486C>A	c.(1486-1488)Cgt>Agt	p.R496S	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393160.3_Missense_Mutation_p.R441S|RALGDS_ENST00000372062.3_Missense_Mutation_p.R467S|RALGDS_ENST00000372047.3_Missense_Mutation_p.R484S|RALGDS_ENST00000542690.1_Missense_Mutation_p.R567S|RALGDS_ENST00000393157.3_Missense_Mutation_p.R495S	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	496	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.		R -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTCTTCAGACGGTGGATGGAG	0.602			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)			Dom	yes		9	9q34.3	5900	ral guanine nucleotide dissociation stimulator		L	0			9											63.0	54.0	57.0					9																	135982063		2200	4300	6500	134971884	SO:0001583	missense	5900			AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.1486C>A	9.37:g.135982063G>T	ENSP00000361120:p.Arg496Ser	Somatic		Capture	Illumina HiSeq	Phase_I	134971884	B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868390	0.51588	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000372051;ENST00000393157;ENST00000542690;ENST00000372062;ENST00000424572	T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.95	5.05	0.67936	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.87414	0.6171	H	0.96175	3.78	0.54753	D	0.999984	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;0.998;0.999;0.999;1.0	D	0.91482	0.5205	10	0.87932	D	0	.	15.3623	0.74487	0.0:0.0:0.8593:0.1407	.	567;467;496;484;441;495;484;496	F5H6M6;E7ER93;Q12967-2;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;.;GNDS_HUMAN	S	496;484;441;193;495;567;467;56	ENSP00000361120:R496S;ENSP00000361117:R484S;ENSP00000376867:R441S;ENSP00000376864:R495S;ENSP00000437518:R567S;ENSP00000361132:R467S;ENSP00000391814:R56S	ENSP00000361117:R484S	R	-	1	0	RALGDS	134971884	1.000000	0.71417	0.998000	0.56505	0.033000	0.12548	2.102000	0.41796	1.504000	0.48704	0.655000	0.94253	CGT		RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266	
FLT1	2321	hgsc.bcm.edu	37	13	28893602	28893602	+	Missense_Mutation	SNP	C	C	T	rs142586121		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr13:28893602C>T	ENST00000282397.4	-	24	3495	c.3244G>A	c.(3244-3246)Gtg>Atg	p.V1082M	FLT1_ENST00000543394.1_Missense_Mutation_p.V105M|FLT1_ENST00000540678.1_Missense_Mutation_p.V300M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1082	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|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 receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TAAGACCACACGTCGCTCTTG	0.453																																																	0			13						C	MET/VAL	2,4404	4.2+/-10.8	0,2,2201	88.0	78.0	81.0		3244	5.5	1.0	13	dbSNP_134	81	0,8600		0,0,4300	yes	missense	FLT1	NM_002019.4	21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1082/1339	28893602	2,13004	2203	4300	6503	27791602	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3244G>A	13.37:g.28893602C>T	ENSP00000282397:p.Val1082Met	Somatic		Capture	Illumina HiSeq	Phase_I	27791602	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.008863	0.93346	4.54E-4	0.0	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	D;D;D	0.88431	-2.38;-2.38;-2.38	5.49	5.49	0.81192	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94118	0.8114	M	0.67569	2.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94196	0.7445	10	0.87932	D	0	.	19.7347	0.96198	0.0:1.0:0.0:0.0	.	1082	P17948	VGFR1_HUMAN	M	1082;105;300	ENSP00000282397:V1082M;ENSP00000437841:V105M;ENSP00000443311:V300M	ENSP00000282397:V1082M	V	-	1	0	FLT1	27791602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.746000	0.94184	0.655000	0.94253	GTG		FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BRCA2	675	hgsc.bcm.edu	37	13	32913406	32913406	+	Silent	SNP	A	A	G	rs201431881		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr13:32913406A>G	ENST00000380152.3	+	11	5147	c.4914A>G	c.(4912-4914)aaA>aaG	p.K1638K	BRCA2_ENST00000544455.1_Silent_p.K1638K			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1638	Interaction with POLH.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGAAAGTTAAAGTACATGAAA	0.318			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A|||	1	0.000199681	0.0008	0.0	5008	,	,		19494	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13											34.0	37.0	36.0					13																	32913406		2201	4297	6498	31811406	SO:0001819	synonymous_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4914A>G	13.37:g.32913406A>G		Somatic		Capture	Illumina HiSeq	Phase_I	31811406	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																				BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
RB1	5925	hgsc.bcm.edu	37	13	48941672	48941672	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr13:48941672A>G	ENST00000267163.4	+	10	1120	c.982A>G	c.(982-984)Aat>Gat	p.N328D		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	328					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)|p.N328H(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTATCTTAAAAATAAAGATCT	0.299		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	23	Whole gene deletion(15)|Unknown(7)|Substitution - Missense(1)	bone(11)|breast(5)|eye(2)|adrenal_gland(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											61.0	73.0	69.0					13																	48941672		2190	4283	6473	47839673	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.982A>G	13.37:g.48941672A>G	ENSP00000267163:p.Asn328Asp	Somatic		Capture	Illumina HiSeq	Phase_I	47839673	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	11.99	1.804433	0.31869	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.92048	-2.96	5.43	5.43	0.79202	.	0.094778	0.64402	D	0.000001	D	0.87521	0.6198	L	0.44542	1.39	0.38926	D	0.957846	B	0.25007	0.116	B	0.19148	0.024	D	0.85192	0.1010	10	0.44086	T	0.13	.	10.3957	0.44198	0.8539:0.0:0.0:0.1461	.	328	P06400	RB_HUMAN	D	307;328	ENSP00000267163:N328D	ENSP00000267163:N328D	N	+	1	0	RB1	47839673	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.868000	0.63021	2.039000	0.60335	0.482000	0.46254	AAT		RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
SLITRK5	26050	hgsc.bcm.edu	37	13	88329438	88329438	+	Missense_Mutation	SNP	G	G	C	rs377281360		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr13:88329438G>C	ENST00000325089.6	+	2	2014	c.1795G>C	c.(1795-1797)Gct>Cct	p.A599P	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A358P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	599	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAAAAAATTCGCTGAGACCGA	0.547																																																	0			13											167.0	151.0	156.0					13																	88329438		2203	4300	6503	87127439	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1795G>C	13.37:g.88329438G>C	ENSP00000366283:p.Ala599Pro	Somatic		Capture	Illumina HiSeq	Phase_I	87127439	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905879	0.52333	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.55760	0.67;0.5	5.47	5.47	0.80525	Cysteine-rich flanking region, C-terminal (1);	0.127931	0.51477	D	0.000097	T	0.66607	0.2806	M	0.79926	2.475	0.48040	D	0.99957	P;P	0.46912	0.886;0.754	P;B	0.50708	0.648;0.443	T	0.68969	-0.5269	9	.	.	.	-10.7401	16.8036	0.85620	0.0:0.0:1.0:0.0	.	358;599	B4DSH5;O94991	.;SLIK5_HUMAN	P	599;358	ENSP00000366283:A599P;ENSP00000442244:A358P	.	A	+	1	0	SLITRK5	87127439	0.986000	0.35501	0.998000	0.56505	0.984000	0.73092	1.896000	0.39789	2.554000	0.86153	0.555000	0.69702	GCT		SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3		
SLITRK5	26050	hgsc.bcm.edu	37	13	88329444	88329444	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr13:88329444A>G	ENST00000325089.6	+	2	2020	c.1801A>G	c.(1801-1803)Acc>Gcc	p.T601A	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T360A	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	601	LRRCT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ATTCGCTGAGACCGACATGCG	0.552																																																	0			13											168.0	152.0	158.0					13																	88329444		2203	4300	6503	87127445	SO:0001583	missense	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1801A>G	13.37:g.88329444A>G	ENSP00000366283:p.Thr601Ala	Somatic		Capture	Illumina HiSeq	Phase_I	87127445	B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	A	4.256	0.046544	0.08243	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.51817	0.69;0.73	5.47	5.47	0.80525	Cysteine-rich flanking region, C-terminal (1);	0.433164	0.24130	N	0.041274	T	0.33789	0.0875	N	0.24115	0.695	0.27793	N	0.942752	B;B	0.12630	0.006;0.002	B;B	0.14578	0.008;0.011	T	0.14811	-1.0459	9	.	.	.	-4.2483	13.4865	0.61369	1.0:0.0:0.0:0.0	.	360;601	B4DSH5;O94991	.;SLIK5_HUMAN	A	601;360	ENSP00000366283:T601A;ENSP00000442244:T360A	.	T	+	1	0	SLITRK5	87127445	0.997000	0.39634	0.969000	0.41365	0.976000	0.68499	2.911000	0.48774	2.065000	0.61736	0.454000	0.30748	ACC		SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3		
C1QL3	389941	hgsc.bcm.edu	37	10	16562533	16562533	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:16562533G>A	ENST00000298943.3	-	1	1471	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	178	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCGCGCATCAGGACGTGGTAG	0.657																																																	0			10											94.0	93.0	93.0					10																	16562533		2203	4300	6503	16602539	SO:0001819	synonymous_variant	389941				CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.532C>T	10.37:g.16562533G>A		Somatic		Capture	Illumina HiSeq	Phase_I	16602539	A0PJY4|A0PJY5	Silent	SNP	ENST00000298943.3	37	CCDS31156.1																																																																																				C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305	
FAM13C	220965	hgsc.bcm.edu	37	10	61062600	61062600	+	Silent	SNP	C	C	T	rs114236655	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:61062600C>T	ENST00000373868.2	-	5	555	c.468G>A	c.(466-468)tcG>tcA	p.S156S	FAM13C_ENST00000422313.2_Silent_p.S156S|FAM13C_ENST00000435852.2_Silent_p.S156S|FAM13C_ENST00000277705.6_Silent_p.S156S|FAM13C_ENST00000468840.2_Silent_p.S73S|FAM13C_ENST00000442566.3_Silent_p.S156S|FAM13C_ENST00000419214.2_Silent_p.S156S|FAM13C_ENST00000373867.3_Silent_p.S73S|FAM13C_ENST00000510215.2_5'UTR	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	156										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATCCTTTGGCGAAATGGCAG	0.358													C|||	39	0.00778754	0.0287	0.0014	5008	,	,		17975	0.0		0.0	False		,,,				2504	0.0																0			10						C	,,,	71,4335	65.3+/-102.7	2,67,2134	112.0	108.0	109.0		468,219,219,468	3.1	1.0	10	dbSNP_132	109	0,8600	1.2+/-3.3	0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FAM13C	NM_001001971.2,NM_001143773.1,NM_001166698.1,NM_198215.3	,,,	2,67,6434	TT,TC,CC		0.0,1.6114,0.5459	,,,	156/488,73/503,73/502,156/586	61062600	71,12935	2203	4300	6503	60732606	SO:0001819	synonymous_variant	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.468G>A	10.37:g.61062600C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60732606	B7ZB77|Q5T631|Q6P2M3|Q99787	Silent	SNP	ENST00000373868.2	37	CCDS7255.1																																																																																				FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
ZSWIM8	23053	hgsc.bcm.edu	37	10	75550776	75550776	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:75550776G>A	ENST00000605216.1	+	8	1202	c.985G>A	c.(985-987)Gct>Act	p.A329T	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.A329T|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.A329T|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.A329T|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.A329T	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	329							zinc ion binding (GO:0008270)										GCCGCCAGCCGCTGCTGAATG	0.557																																																	0			10											59.0	64.0	62.0					10																	75550776		2016	4184	6200	75220782	SO:0001583	missense	23053			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.985G>A	10.37:g.75550776G>A	ENSP00000474748:p.Ala329Thr	Somatic		Capture	Illumina HiSeq	Phase_I	75220782	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.41|17.41	3.382929|3.382929	0.61845|0.61845	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000433366	T|.	0.59364|.	0.27|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.56097|.	U|.	0.000023|.	T|T	0.78175|0.78175	0.4242|0.4242	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.80764|.	0.99;0.994;0.99|.	T|T	0.77536|0.77536	-0.2551|-0.2551	10|5	0.66056|.	D|.	0.02|.	-3.4753|-3.4753	19.2662|19.2662	0.93985|0.93985	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	329;329;329|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	T|H	329|51	ENSP00000381693:A329T|.	ENSP00000381693:A329T|.	A|R	+|+	1|2	0|0	KIAA0913|KIAA0913	75220782|75220782	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.982000|0.982000	0.71751|0.71751	8.953000|8.953000	0.93041|0.93041	2.789000|2.789000	0.95967|0.95967	0.591000|0.591000	0.81541|0.81541	GCT|CGC		ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
INA	9118	hgsc.bcm.edu	37	10	105046867	105046867	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:105046867G>T	ENST00000369849.4	+	2	1190	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	381	Coil 2.|Rod.				cell differentiation (GO:0030154)|neurofilament cytoskeleton organization (GO:0060052)|substantia nigra development (GO:0021762)	cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular space (GO:0005615)|neurofilament (GO:0005883)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGAATACCAGGACTTGCTCAA	0.468																																																	0			10											121.0	100.0	107.0					10																	105046867		2203	4300	6503	105036857	SO:0001583	missense	9118			S78296	CCDS7545.1	10q24	2013-01-16			ENSG00000148798	ENSG00000148798		"""Intermediate filaments type IV"""	6057	protein-coding gene	gene with protein product		605338		NEF5		7769995	Standard	NM_032727		Approved	NF-66	uc001kws.3	Q16352	OTTHUMG00000018986	ENST00000369849.4:c.1141G>T	10.37:g.105046867G>T	ENSP00000358865:p.Asp381Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	105036857	B1AQK0|Q9BRC5	Missense_Mutation	SNP	ENST00000369849.4	37	CCDS7545.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442687	0.83993	.	.	ENSG00000148798	ENST00000369849	D	0.89485	-2.52	5.43	4.52	0.55395	Filament (1);	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	H	0.96080	3.765	0.53688	D	0.999977	D	0.89917	1.0	D	0.97110	1.0	D	0.97183	0.9852	10	0.87932	D	0	.	13.8489	0.63485	0.0739:0.0:0.9261:0.0	.	381	Q16352	AINX_HUMAN	Y	381	ENSP00000358865:D381Y	ENSP00000358865:D381Y	D	+	1	0	INA	105036857	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.527000	0.98044	1.521000	0.48983	0.655000	0.94253	GAC		INA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050145.1	NM_032727	
PDCD11	22984	hgsc.bcm.edu	37	10	105204330	105204330	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:105204330C>T	ENST00000369797.3	+	35	5429	c.5335C>T	c.(5335-5337)Cgg>Tgg	p.R1779W		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1779					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.R1779W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGATGCAGAGCGGGCCAAAGC	0.547																																																	1	Substitution - Missense(1)	central_nervous_system(1)	10											134.0	107.0	116.0					10																	105204330		2203	4300	6503	105194320	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5335C>T	10.37:g.105204330C>T	ENSP00000358812:p.Arg1779Trp	Somatic		Capture	Illumina HiSeq	Phase_I	105194320	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210380	0.79240	.	.	ENSG00000148843	ENST00000369797	T	0.56275	0.47	5.57	4.65	0.58169	Tetratricopeptide-like helical (1);Suppressor of forked (1);Tetratricopeptide repeat-containing (1);	0.242285	0.39407	N	0.001369	T	0.77384	0.4122	M	0.89715	3.055	0.52501	D	0.999954	D	0.89917	1.0	D	0.78314	0.991	T	0.83241	-0.0058	10	0.87932	D	0	-20.5552	15.6725	0.77289	0.1383:0.8617:0.0:0.0	.	1779	Q14690	RRP5_HUMAN	W	1779	ENSP00000358812:R1779W	ENSP00000358812:R1779W	R	+	1	2	PDCD11	105194320	1.000000	0.71417	0.999000	0.59377	0.963000	0.63663	3.116000	0.50399	1.315000	0.45114	0.561000	0.74099	CGG		PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
NRAP	4892	hgsc.bcm.edu	37	10	115356930	115356930	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:115356930T>C	ENST00000359988.3	-	37	4590	c.4346A>G	c.(4345-4347)aAa>aGa	p.K1449R	NRAP_ENST00000369358.4_Missense_Mutation_p.K1457R|NRAP_ENST00000360478.3_Missense_Mutation_p.K1414R|NRAP_ENST00000369360.3_Missense_Mutation_p.K1422R	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein											autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTCTGGTTTTTTACGGTACTT	0.448																																																	0			10											276.0	250.0	259.0					10																	115356930		2203	4300	6503	115346920	SO:0001583	missense	65083				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4346A>G	10.37:g.115356930T>C	ENSP00000353078:p.Lys1449Arg	Somatic		Capture	Illumina HiSeq	Phase_I	115346920		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.248405	0.39797	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.16743	2.45;2.41;2.41;2.32	5.99	-0.506	0.11989	.	0.380721	0.32918	N	0.005481	T	0.10895	0.0266	L	0.34521	1.04	0.26122	N	0.98054	B;B;B;B	0.10296	0.003;0.0;0.0;0.0	B;B;B;B	0.10450	0.003;0.003;0.005;0.003	T	0.16512	-1.0400	10	0.52906	T	0.07	.	6.5573	0.22468	0.0:0.2468:0.1153:0.6379	.	607;1449;1414;1449	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	R	1457;1422;1449;1414;607	ENSP00000358365:K1457R;ENSP00000358367:K1422R;ENSP00000353078:K1449R;ENSP00000353666:K1414R	ENSP00000353078:K1449R	K	-	2	0	NRAP	115346920	1.000000	0.71417	0.565000	0.28409	0.962000	0.63368	2.895000	0.48648	-0.316000	0.08690	-0.912000	0.02778	AAA		NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2	NM_006175	
PNLIPRP2	5408	hgsc.bcm.edu	37	10	118383592	118383592	+	RNA	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:118383592A>G	ENST00000298771.7	+	0	211				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACACAAATGAAAATCCAAACA	0.498																																																	0			10											96.0	92.0	94.0					10																	118383592		1923	4144	6067	118373582			5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118383592A>G		Somatic		Capture	Illumina HiSeq	Phase_I	118373582	A8K627|Q6IB55	Missense_Mutation	SNP	ENST00000298771.7	37																																																																																					PNLIPRP2-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000050546.6	NM_005396	
MKI67	4288	hgsc.bcm.edu	37	10	129906140	129906140	+	Silent	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:129906140G>A	ENST00000368654.3	-	13	4339	c.3964C>T	c.(3964-3966)Ctg>Ttg	p.L1322L	MKI67_ENST00000368653.3_Silent_p.L962L	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1322	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTCTGTCAGGTCCAGTTTC	0.502																																																	0			10											198.0	194.0	196.0					10																	129906140		2203	4300	6503	129796130	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3964C>T	10.37:g.129906140G>A		Somatic		Capture	Illumina HiSeq	Phase_I	129796130	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
TUBGCP2	10844	hgsc.bcm.edu	37	10	135111468	135111468	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:135111468C>T	ENST00000252936.3	-	4	643	c.604G>A	c.(604-606)Gct>Act	p.A202T	RP11-122K13.12_ENST00000424450.1_RNA|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.A202T|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.A72T|TUBGCP2_ENST00000368563.2_Missense_Mutation_p.A202T|TUBGCP2_ENST00000470829.1_5'Flank			Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	202					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		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;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		ATCGGCAAAGCGGTGTCTGTG	0.537																																																	0			10											164.0	139.0	147.0					10																	135111468		2203	4300	6503	134961458	SO:0001583	missense	10844			AF042379	CCDS7676.1, CCDS58104.1, CCDS58105.1	10q26.3	2008-07-28			ENSG00000130640	ENSG00000130640			18599	protein-coding gene	gene with protein product						9566967	Standard	NM_001256617		Approved	GCP2, Spc97p, SPBC97	uc010qvc.2	Q9BSJ2	OTTHUMG00000019319	ENST00000252936.3:c.604G>A	10.37:g.135111468C>T	ENSP00000252936:p.Ala202Thr	Somatic		Capture	Illumina HiSeq	Phase_I	134961458	B4DM18|B7ZKL8|F5H4E0|F5H4L0|O43632|Q5VWX7	Missense_Mutation	SNP	ENST00000252936.3	37	CCDS7676.1	.	.	.	.	.	.	.	.	.	.	C	8.006	0.756417	0.15846	.	.	ENSG00000130640	ENST00000252936;ENST00000417178;ENST00000368563;ENST00000543663	T;T;T;T	0.18657	2.46;2.2;2.46;2.49	5.24	3.37	0.38596	.	0.445404	0.27700	N	0.018219	T	0.08223	0.0205	N	0.04508	-0.205	0.09310	N	0.999999	B;B;B	0.12630	0.006;0.004;0.003	B;B;B	0.10450	0.005;0.002;0.002	T	0.36986	-0.9725	10	0.14252	T	0.57	-2.1915	7.5796	0.27957	0.0:0.672:0.0:0.328	.	202;202;202	F5H4L0;B7ZKL8;Q9BSJ2	.;.;GCP2_HUMAN	T	202;72;202;202	ENSP00000252936:A202T;ENSP00000395666:A72T;ENSP00000357551:A202T;ENSP00000446093:A202T	ENSP00000252936:A202T	A	-	1	0	TUBGCP2	134961458	0.020000	0.18652	0.062000	0.19696	0.357000	0.29423	0.260000	0.18424	0.697000	0.31718	0.561000	0.74099	GCT		TUBGCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051148.1		
DNAH5	1767	hgsc.bcm.edu	37	5	13754367	13754367	+	Silent	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:13754367T>C	ENST00000265104.4	-	62	10604	c.10500A>G	c.(10498-10500)aaA>aaG	p.K3500K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3500					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K3500K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCATCTTTCTTTTTCACCTG	0.413									Kartagener syndrome																																								1	Substitution - coding silent(1)	ovary(1)	5											119.0	116.0	117.0					5																	13754367		2203	4300	6503	13807367	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10500A>G	5.37:g.13754367T>C		Somatic		Capture	Illumina HiSeq	Phase_I	13807367	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
ACTBL2	345651	hgsc.bcm.edu	37	5	56777934	56777934	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:56777934A>G	ENST00000423391.1	-	1	702	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	201						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GTGGTGGTGAAGTTATAGCCT	0.542																																																	0			5											102.0	83.0	89.0					5																	56777934		2203	4300	6503	56813691	SO:0001583	missense	345651				CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.601T>C	5.37:g.56777934A>G	ENSP00000416706:p.Phe201Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56813691	B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.045855	0.36085	.	.	ENSG00000169067	ENST00000423391	D	0.94497	-3.44	4.91	4.91	0.64330	.	0.000000	0.64402	D	0.000002	D	0.95300	0.8475	L	0.54908	1.71	0.45822	D	0.998693	B	0.25206	0.12	P	0.46758	0.526	D	0.94630	0.7821	10	0.87932	D	0	.	12.5346	0.56135	1.0:0.0:0.0:0.0	.	201	Q562R1	ACTBL_HUMAN	L	201	ENSP00000416706:F201L	ENSP00000416706:F201L	F	-	1	0	ACTBL2	56813691	1.000000	0.71417	1.000000	0.80357	0.722000	0.41435	9.131000	0.94446	2.057000	0.61298	0.533000	0.62120	TTC		ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
POC5	134359	hgsc.bcm.edu	37	5	74984855	74984855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:74984855G>A	ENST00000428202.2	-	9	1300	c.1111C>T	c.(1111-1113)Caa>Taa	p.Q371*	POC5_ENST00000514838.2_Nonsense_Mutation_p.Q343*|POC5_ENST00000510798.1_Nonsense_Mutation_p.Q254*|POC5_ENST00000446329.2_Nonsense_Mutation_p.Q346*|POC5_ENST00000380475.2_Nonsense_Mutation_p.Q254*	NM_001099271.1	NP_001092741.1	Q8NA72	POC5_HUMAN	POC5 centriolar protein	371					cell cycle (GO:0007049)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTTCTGTTTTGAAATATAGTC	0.333																																																	0			5											69.0	64.0	66.0					5																	74984855		1811	4066	5877	75020611	SO:0001587	stop_gained	0			AK093098	CCDS47236.1, CCDS47237.1	5q13.3	2013-08-05	2013-08-05	2010-03-26	ENSG00000152359	ENSG00000152359			26658	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 37"", ""POC5 centriolar protein homolog (Chlamydomonas)"""	C5orf37		19349582	Standard	NM_152408		Approved	FLJ35779, MGC120442, MGC120443, MGC120444, hPOC5	uc003keh.4	Q8NA72	OTTHUMG00000162487	ENST00000428202.2:c.1111C>T	5.37:g.74984855G>A	ENSP00000410216:p.Gln371*	Somatic		Capture	Illumina HiSeq	Phase_I	75020611	B4DJG7|Q494X7|Q494X9|Q6P085	Nonsense_Mutation	SNP	ENST00000428202.2	37	CCDS47236.1	.	.	.	.	.	.	.	.	.	.	G	37	6.350628	0.97498	.	.	ENSG00000152359	ENST00000428202;ENST00000514838;ENST00000380475;ENST00000510798;ENST00000446329	.	.	.	5.66	5.66	0.87406	.	0.266501	0.44097	D	0.000494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-19.0937	19.7537	0.96281	0.0:0.0:1.0:0.0	.	.	.	.	X	371;343;254;254;346	.	ENSP00000369842:Q254X	Q	-	1	0	POC5	75020611	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.820000	0.62671	2.676000	0.91093	0.655000	0.94253	CAA		POC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369124.1	NM_152408	
AP3B1	8546	hgsc.bcm.edu	37	5	77471654	77471654	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:77471654T>C	ENST00000255194.6	-	10	1224	c.1049A>G	c.(1048-1050)cAg>cGg	p.Q350R	AP3B1_ENST00000519295.1_Missense_Mutation_p.Q301R	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	350					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GACAATATACTGCACCTCCCT	0.308									Hermansky-Pudlak syndrome																																								0			5											139.0	146.0	144.0					5																	77471654		2202	4296	6498	77507410	SO:0001583	missense	8546	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1049A>G	5.37:g.77471654T>C	ENSP00000255194:p.Gln350Arg	Somatic		Capture	Illumina HiSeq	Phase_I	77507410	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.980124	0.74474	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.19806	2.12;2.12	4.82	4.82	0.62117	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39937	0.1097	M	0.89287	3.02	0.80722	D	1	P	0.36086	0.536	B	0.42798	0.398	T	0.49021	-0.8982	10	0.87932	D	0	-11.1184	14.3773	0.66886	0.0:0.0:0.0:1.0	.	350	O00203	AP3B1_HUMAN	R	350;301;350;254	ENSP00000255194:Q350R;ENSP00000430597:Q301R	ENSP00000255194:Q350R	Q	-	2	0	AP3B1	77507410	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	7.698000	0.84413	1.797000	0.52628	0.383000	0.25322	CAG		AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
CAMK4	814	hgsc.bcm.edu	37	5	110819926	110819926	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:110819926T>C	ENST00000282356.4	+	11	1582	c.1184T>C	c.(1183-1185)aTg>aCg	p.M395T	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.M395T	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	395					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTGAGCTGATGAAGGTGCAA	0.507																																																	0			5											63.0	66.0	65.0					5																	110819926		2202	4300	6502	110847825	SO:0001583	missense	814			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.1184T>C	5.37:g.110819926T>C	ENSP00000282356:p.Met395Thr	Somatic		Capture	Illumina HiSeq	Phase_I	110847825	D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180397	0.38511	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.65916	-0.18;-0.18	5.55	-7.1	0.01547	.	0.843495	0.10143	N	0.710635	T	0.29850	0.0746	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21724	-1.0237	10	0.17832	T	0.49	.	1.0194	0.01514	0.2558:0.1598:0.3567:0.2277	.	395	Q16566	KCC4_HUMAN	T	395	ENSP00000422634:M395T;ENSP00000282356:M395T	ENSP00000282356:M395T	M	+	2	0	CAMK4	110847825	0.000000	0.05858	0.001000	0.08648	0.228000	0.25075	-0.316000	0.08071	-0.593000	0.05844	0.482000	0.46254	ATG		CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744	
APC	324	hgsc.bcm.edu	37	5	112163701	112163701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:112163701C>T	ENST00000457016.1	+	13	2004	c.1624C>T	c.(1624-1626)Cag>Tag	p.Q542*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q542*|CTC-554D6.1_ENST00000520401.1_Silent_p.S37S|APC_ENST00000508376.2_Nonsense_Mutation_p.Q542*			P25054	APC_HUMAN	adenomatous polyposis coli	542	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q542*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGACTTACAGCAGGTACTATT	0.418		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Substitution - Nonsense(1)|Unknown(1)	large_intestine(1)|skin(1)	5	GRCh37	CM071554	APC	M							87.0	83.0	84.0					5																	112163701		2202	4300	6502	112191600	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.1624C>T	5.37:g.112163701C>T	ENSP00000413133:p.Gln542*	Somatic		Capture	Illumina HiSeq	Phase_I	112191600	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	39	7.719132	0.98450	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.6611	19.6223	0.95663	0.0:1.0:0.0:0.0	.	.	.	.	X	542;524;542;542;542	.	ENSP00000257430:Q542X	Q	+	1	0	APC	112191600	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.421000	0.80204	2.707000	0.92482	0.655000	0.94253	CAG		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175271	112175271	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:112175271C>A	ENST00000457016.1	+	16	4360	c.3980C>A	c.(3979-3981)tCa>tAa	p.S1327*	APC_ENST00000257430.4_Nonsense_Mutation_p.S1327*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.S1327*			P25054	APC_HUMAN	adenomatous polyposis coli	1327	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.			AVSQHPR -> SSVHSTLE (in Ref. 1; AAA60353/ AAA60354). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.S1327*(4)|p.K1192fs*3(1)|p.?(1)|p.V1326fs*3(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCAGCAGTGTCACAGCACCCT	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	7	Substitution - Nonsense(4)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(5)|soft_tissue(1)|skin(1)	5											61.0	64.0	63.0					5																	112175271		2202	4300	6502	112203170	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3980C>A	5.37:g.112175271C>A	ENSP00000413133:p.Ser1327*	Somatic		Capture	Illumina HiSeq	Phase_I	112203170	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	34	5.366503	0.95900	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	6.03	0.97812	.	0.312416	0.32518	N	0.005998	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.4033	13.3889	0.60811	0.0:0.9279:0.0:0.0721	.	.	.	.	X	1327	.	.	S	+	2	0	APC	112203170	0.701000	0.27806	0.185000	0.23176	0.118000	0.20060	5.764000	0.68826	2.861000	0.98227	0.655000	0.94253	TCA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
GRAMD3	65983	hgsc.bcm.edu	37	5	125828621	125828621	+	Silent	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:125828621A>G	ENST00000285689.3	+	14	1733	c.1272A>G	c.(1270-1272)ttA>ttG	p.L424L	GRAMD3_ENST00000543198.1_3'UTR|GRAMD3_ENST00000544396.1_Silent_p.L320L|GRAMD3_ENST00000513040.1_Silent_p.L439L|GRAMD3_ENST00000511134.1_Silent_p.L408L|GRAMD3_ENST00000502348.1_Silent_p.L315L|GRAMD3_ENST00000542322.1_Silent_p.L432L|GRAMD3_ENST00000515200.1_Silent_p.L402L|RP11-517I3.1_ENST00000515808.1_RNA|RP11-517I3.1_ENST00000512500.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	424						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AAAATAACTTACAGAAGTTGC	0.353																																																	0			5											61.0	60.0	60.0					5																	125828621		2203	4300	6503	125856520	SO:0001819	synonymous_variant	65983			BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.1272A>G	5.37:g.125828621A>G		Somatic		Capture	Illumina HiSeq	Phase_I	125856520	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Silent	SNP	ENST00000285689.3	37	CCDS4136.1																																																																																				GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	
NR3C1	2908	hgsc.bcm.edu	37	5	142661473	142661473	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:142661473A>G	ENST00000343796.2	-	9	3308	c.2315T>C	c.(2314-2316)cTt>cCt	p.L772P	NR3C1_ENST00000231509.3_Missense_Mutation_p.L773P|NR3C1_ENST00000394466.2_Missense_Mutation_p.L773P|NR3C1_ENST00000504572.1_Missense_Mutation_p.L773P|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000416954.2_Missense_Mutation_p.L375P|NR3C1_ENST00000503201.1_Missense_Mutation_p.L772P|NR3C1_ENST00000424646.2_Missense_Mutation_p.L746P|NR3C1_ENST00000394464.2_Missense_Mutation_p.L772P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	772	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.L773P(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ATGAAACAGAAGTTTTTTGAT	0.318																																																	1	Substitution - Missense(1)	ovary(1)	5											87.0	90.0	89.0					5																	142661473		2202	4300	6502	142641666	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2315T>C	5.37:g.142661473A>G	ENSP00000343205:p.Leu772Pro	Somatic		Capture	Illumina HiSeq	Phase_I	142641666	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593056	0.66219	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	5.93	5.93	0.95920	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97948	1.0330	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	772;773	P04150;E5KQF6	GCR_HUMAN;.	P	772;772;588;746;773;773;773;375;772	ENSP00000377977:L772P;ENSP00000343205:L772P;ENSP00000405282:L746P;ENSP00000422518:L773P;ENSP00000377979:L773P;ENSP00000231509:L773P;ENSP00000404218:L375P;ENSP00000427672:L772P	ENSP00000231509:L773P	L	-	2	0	NR3C1	142641666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	CTT		NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
AFAP1L1	134265	hgsc.bcm.edu	37	5	148697481	148697481	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:148697481G>A	ENST00000296721.4	+	12	1555	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R486Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	486	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGCAACCGGCAGGAGGTG	0.627																																																	0			5											23.0	20.0	21.0					5																	148697481		2197	4299	6496	148677674	SO:0001583	missense	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1457G>A	5.37:g.148697481G>A	ENSP00000296721:p.Arg486Gln	Somatic		Capture	Illumina HiSeq	Phase_I	148677674	Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Missense_Mutation	SNP	ENST00000296721.4	37	CCDS34274.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043862	0.93685	.	.	ENSG00000157510	ENST00000296721;ENST00000515000	T;T	0.11277	2.79;2.79	5.17	5.17	0.71159	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.178082	0.49305	D	0.000143	T	0.12092	0.0294	L	0.29908	0.895	0.29351	N	0.865348	P;P	0.52463	0.933;0.953	B;B	0.43052	0.345;0.406	T	0.01472	-1.1346	10	0.72032	D	0.01	-23.5609	18.853	0.92240	0.0:0.0:1.0:0.0	.	486;486	Q8TED9-2;Q8TED9	.;AF1L1_HUMAN	Q	486	ENSP00000296721:R486Q;ENSP00000424427:R486Q	ENSP00000296721:R486Q	R	+	2	0	AFAP1L1	148677674	0.967000	0.33354	0.999000	0.59377	0.998000	0.95712	3.990000	0.56965	2.700000	0.92200	0.561000	0.74099	CGG		AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373443.1	NM_152406	
BCL9	607	hgsc.bcm.edu	37	1	147086225	147086225	+	Splice_Site	SNP	G	G	T			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:147086225G>T	ENST00000234739.3	+	6	1110		c.e6-1		BCL9_ENST00000473292.1_Splice_Site	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9						canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TATTCTTTTAGAATGTAATTC	0.433			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0			1											74.0	77.0	76.0					1																	147086225		2203	4300	6503	145552849	SO:0001630	splice_region_variant	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.371-1G>T	1.37:g.147086225G>T		Somatic		Capture	Illumina HiSeq	Phase_I	145552849	Q5T489	Splice_Site	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.291838	0.80914	.	.	ENSG00000116128	ENST00000234739	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6982	0.96039	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BCL9	145552849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.672000	0.74477	2.894000	0.99253	0.655000	0.94253	.		BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	Intron
IQGAP2	10788	hgsc.bcm.edu	37	5	75866404	75866404	+	Splice_Site	SNP	G	G	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr5:75866404G>C	ENST00000274364.6	+	4	600		c.e4-1		IQGAP2_ENST00000379730.3_Splice_Site	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2						negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		CGTCACTTTAGAAGTCTGGCC	0.418																																																	0			5											148.0	142.0	144.0					5																	75866404		2203	4300	6503	75902160	SO:0001630	splice_region_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.304-1G>C	5.37:g.75866404G>C		Somatic		Capture	Illumina HiSeq	Phase_I	75902160	A8K4V1|B7Z8A4|J3KR91	Splice_Site	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657727	0.47467	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7421	0.96237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IQGAP2	75902160	1.000000	0.71417	0.924000	0.36721	0.221000	0.24807	6.242000	0.72376	2.666000	0.90696	0.650000	0.86243	.		IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	Intron
L1TD1	54596	hgsc.bcm.edu	37	1	62675645	62675674	+	In_Frame_Del	DEL	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	-	rs141196718|rs199552452|rs201629799|rs200503897|rs200931139|rs532563709|rs386631745|rs145231033|rs200789118	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:62675645_62675674delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	ENST00000498273.1	+	4	1494_1523	c.1199_1228delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	c.(1198-1230)acctcagggctggaggaggaggaggaagagccc>acc	p.SGLEEEEEEP401del	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	401	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GATGAAGATACCTCAGGGCTggaggaggaggaggaagagccctcagggct	0.535																																																	0			1							,	335,3925		13,309,1808					,	-4.7	0.0			50	405,7849		12,381,3734	no	coding,coding	L1TD1	NM_019079.4,NM_001164835.1	,	25,690,5542	A1A1,A1R,RR		4.9067,7.8638,5.9134	,	,		740,11774				62448262	SO:0001651	inframe_deletion	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1199_1228delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	1.37:g.62675645_62675674delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	ENSP00000419901:p.Ser401_Pro410del	Somatic		Capture	Illumina HiSeq	Phase_I	62448233	Q8NDA1|Q9NUV8|Q9NV78	In_Frame_Del	DEL	ENST00000498273.1	37	CCDS619.1																																																																																				L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
MUC4	4585	hgsc.bcm.edu	37	3	195505908	195505955	+	In_Frame_Del	DEL	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	-	rs573106893|rs374377441|rs201002111|rs558861219|rs574445078|rs577069816|rs201499581|rs55789594|rs543820459|rs200786826|rs377017763|rs199963450	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr3:195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENST00000463781.3	-	2	12955_13002	c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	c.(12496-12543)gcttcctcagtgtccacaggtcacggcacccctcttcctgtcaccagcdel	p.ASSVSTGHGTPLPVTS4166del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.ASSVSTGHGTPLPVTS4166del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A4166_S4181delASSVSTGHGTPLPVTS(2)|p.V4169V(1)|p.A4166T(1)|p.V4169A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA	0.585																																																	5	Substitution - Missense(2)|Deletion - In frame(2)|Substitution - coding silent(1)	stomach(4)|upper_aerodigestive_tract(1)	3							,,	336,2928		86,164,1382					,,		0.0			13	856,5568		218,420,2574	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	304,584,3956	A1A1,A1R,RR		13.325,10.2941,12.3039	,,	,,		1192,8496				196990734	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	3.37:g.195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENSP00000417498:p.Ala4166_Ser4181del	Somatic		Capture	Illumina HiSeq	Phase_I	196990687	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
RP1L1	94137	hgsc.bcm.edu	37	8	10466004	10466024	+	In_Frame_Del	DEL	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC	-	rs199577777|rs199959237|rs535482422|rs558932296|rs181718385|rs542254783	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr8:10466004_10466024delCTGGGCCTCCCCTTCAGCCTC	ENST00000382483.3	-	4	5807_5827	c.5584_5604delGAGGCTGAAGGGGAGGCCCAG	c.(5584-5604)gaggctgaaggggaggcccagdel	p.EAEGEAQ1862del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1942					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1862E(1)|p.A1863D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCCCCTTCAGCCTCCTGGGCATCC	0.633																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)	8								85,3535		3,79,1728						0.5	0.0			170	854,7024		39,776,3124	no	coding	RP1L1	NM_178857.5		42,855,4852	A1A1,A1R,RR		10.8403,2.3481,8.1666				939,10559				10503434	SO:0001651	inframe_deletion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5584_5604delGAGGCTGAAGGGGAGGCCCAG	8.37:g.10466004_10466024delCTGGGCCTCCCCTTCAGCCTC	ENSP00000371923:p.Glu1862_Gln1868del	Somatic		Capture	Illumina HiSeq	Phase_I	10503414	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
TCF7L2	6934	hgsc.bcm.edu	37	10	114901049	114901050	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:114901049_114901050insA	ENST00000355995.4	+	6	1166_1167	c.659_660insA	c.(658-663)ttaccafs	p.P221fs	TCF7L2_ENST00000534894.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000349937.2_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000352065.5_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000545257.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000369389.1_5'Flank|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.P245fs|TCF7L2_ENST00000369395.1_Frame_Shift_Ins_p.P246fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	221	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P221fs*107(1)|p.P198fs*107(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCTCCACACTTACCAGCCGACG	0.589			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	2	Insertion - Frameshift(2)	large_intestine(2)	10																																								114891040	SO:0001589	frameshift_variant	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.660dupA	10.37:g.114901050_114901050dupA	ENSP00000348274:p.Pro221fs	Somatic		Capture	Illumina HiSeq	Phase_I	114891039	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Ins	INS	ENST00000355995.4	37																																																																																					TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
NDUFS8	4728	hgsc.bcm.edu	37	11	67795378	67795379	+	5'Flank	INS	-	-	C	rs11436139|rs397801590|rs58238184		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:67795378_67795379insC	ENST00000313468.5	+	0	0				NDUFS8_ENST00000528492.1_5'Flank|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Splice_Site|ALDH3B1_ENST00000539229.1_Splice_Site|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Splice_Site	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						GGCCATGGAGGCCAAGGCTGCA	0.703													CCC|CC|CCC|deletion	5007	0.9998	0.9992	1.0	5008	,	,		16547	1.0		1.0	False		,,,				2504	1.0				Colon(116;1205 2770 20054)												0			11							,,	4124,30		2052,20,5					,,	-1.9	0.2		dbSNP_120	21	8086,22		4038,10,6	no	frameshift,frameshift,frameshift	ALDH3B1	NM_001161473.1,NM_001030010.1,NM_000694.2	,,	6090,30,11	A1A1,A1R,RR		0.2713,0.7222,0.4241	,,	,,		12210,52				67551955	SO:0001631	upstream_gene_variant	221			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331		11.37:g.67795380_67795380dupC	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	67551954	B2RB86|Q0VDA8	Frame_Shift_Ins	INS	ENST00000313468.5	37	CCDS8176.1																																																																																				NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496	
PRB1	5542	hgsc.bcm.edu	37	12	11506416	11506417	+	Intron	INS	-	-	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:11506416_11506417insC	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCGGGACTTGTCTCCTTGTGG	0.614																																																	0			12																																								11397684	SO:0001627	intron_variant	5933				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-92->G	12.37:g.11506416_11506417insC		Somatic		Capture	Illumina HiSeq	Phase_I	11397683	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Ins	INS	ENST00000500254.2	37	CCDS8642.1																																																																																				PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs|KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs	Somatic		Capture	Illumina HiSeq	Phase_I	51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del	Somatic		Capture	Illumina HiSeq	Phase_I	120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT		Somatic		Capture	Illumina HiSeq	Phase_I	263602		Frame_Shift_Del	DEL		37																																																																																				0								
TP53	7157	hgsc.bcm.edu	37	17	7578194	7578195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr17:7578194_7578195insC	ENST00000269305.4	-	6	843_844	c.654_655insG	c.(652-657)gtgcccfs	p.P219fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.P219fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P219fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P219fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P219fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P219fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	219	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> C (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.V218del(5)|p.Y220fs*27(4)|p.P219S(4)|p.P219T(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.T211fs*28(1)|p.V218_P219insX(1)|p.V218V(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.P219C(1)|p.V216_Y220delVVVPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCTCATAGGGCACCACCACAC	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	46	Unknown(11)|Deletion - In frame(9)|Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(7)|Insertion - In frame(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(6)|endometrium(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|liver(3)|urinary_tract(2)|cervix(1)|vulva(1)|stomach(1)|soft_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	17	GRCh37	CM941330	TP53	M																																				7518920	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.655dupG	17.37:g.7578195_7578195dupC	ENSP00000269305:p.Pro219fs	Somatic		Capture	Illumina HiSeq	Phase_I	7518919	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TGIF1	7050	hgsc.bcm.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510|rs557543525|rs202189171	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr18:3452223delT	ENST00000330513.5	+	1	549	c.246delT	c.(244-246)cctfs	p.P85fs	TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000401449.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													T|T|-|deletion	1280	0.255591	0.3419	0.2349	5008	,	,		10884	0.0109		0.4304	False		,,,				2504	0.226																1	Deletion - Frameshift(1)	large_intestine(1)	18											10.0	11.0	10.0					18																	3452223		2031	3818	5849	3442223	SO:0001589	frameshift_variant	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.246delT	18.37:g.3452223delT	ENSP00000327959:p.Pro85fs	Somatic		Capture	Illumina HiSeq	Phase_I	3442223	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Frame_Shift_Del	DEL	ENST00000330513.5	37	CCDS11834.1																																																																																				TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	Somatic		Capture	Illumina HiSeq	Phase_I	44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
L1TD1	54596	hgsc.bcm.edu	37	1	62675645	62675674	+	In_Frame_Del	DEL	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	-	rs141196718|rs199552452|rs201629799|rs200503897|rs200931139|rs532563709|rs386631745|rs145231033|rs200789118	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	CCTCAGGGCTGGAGGAGGAGGAGGAAGAGC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr1:62675645_62675674delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	ENST00000498273.1	+	4	1494_1523	c.1199_1228delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	c.(1198-1230)acctcagggctggaggaggaggaggaagagccc>acc	p.SGLEEEEEEP401del	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	401	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						GATGAAGATACCTCAGGGCTggaggaggaggaggaagagccctcagggct	0.535																																																	0			1							,	335,3925		13,309,1808					,	-4.7	0.0			50	405,7849		12,381,3734	no	coding,coding	L1TD1	NM_019079.4,NM_001164835.1	,	25,690,5542	A1A1,A1R,RR		4.9067,7.8638,5.9134	,	,		740,11774				62448262	SO:0001651	inframe_deletion	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.1199_1228delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	1.37:g.62675645_62675674delCCTCAGGGCTGGAGGAGGAGGAGGAAGAGC	ENSP00000419901:p.Ser401_Pro410del	Somatic		Capture	Illumina HiSeq	Phase_I	62448233	Q8NDA1|Q9NUV8|Q9NV78	In_Frame_Del	DEL	ENST00000498273.1	37	CCDS619.1																																																																																				L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1	NM_019079	
Unknown	0	hgsc.bcm.edu	37	2	98123521	98123522	+	IGR	INS	-	-	G			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr2:98123521_98123522insG								AC159540.1 (32472 upstream) : ANKRD36B (40505 downstream)																							CTCAAACACCTGCAGCATCTGA	0.327																																																	0			2																																								97489954	SO:0001628	intergenic_variant	57730																															2.37:g.98123522_98123522dupG		Somatic		Capture	Illumina HiSeq	Phase_I	97489953		Frame_Shift_Ins	INS		37																																																																																				0								
MUC4	4585	hgsc.bcm.edu	37	3	195505908	195505955	+	In_Frame_Del	DEL	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	-	rs573106893|rs374377441|rs201002111|rs558861219|rs574445078|rs577069816|rs201499581|rs55789594|rs543820459|rs200786826|rs377017763|rs199963450	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr3:195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENST00000463781.3	-	2	12955_13002	c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	c.(12496-12543)gcttcctcagtgtccacaggtcacggcacccctcttcctgtcaccagcdel	p.ASSVSTGHGTPLPVTS4166del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.ASSVSTGHGTPLPVTS4166del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A4166_S4181delASSVSTGHGTPLPVTS(2)|p.V4169V(1)|p.A4166T(1)|p.V4169A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA	0.585																																																	5	Substitution - Missense(2)|Deletion - In frame(2)|Substitution - coding silent(1)	stomach(4)|upper_aerodigestive_tract(1)	3							,,	336,2928		86,164,1382					,,		0.0			13	856,5568		218,420,2574	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	304,584,3956	A1A1,A1R,RR		13.325,10.2941,12.3039	,,	,,		1192,8496				196990734	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	3.37:g.195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENSP00000417498:p.Ala4166_Ser4181del	Somatic		Capture	Illumina HiSeq	Phase_I	196990687	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
RP1L1	94137	hgsc.bcm.edu	37	8	10466004	10466024	+	In_Frame_Del	DEL	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC	-	rs199577777|rs199959237|rs535482422|rs558932296|rs181718385|rs542254783	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	CTGGGCCTCCCCTTCAGCCTC	CTGGGCCTCCCCTTCAGCCTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr8:10466004_10466024delCTGGGCCTCCCCTTCAGCCTC	ENST00000382483.3	-	4	5807_5827	c.5584_5604delGAGGCTGAAGGGGAGGCCCAG	c.(5584-5604)gaggctgaaggggaggcccagdel	p.EAEGEAQ1862del		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1942					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1862E(1)|p.A1863D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCCCCTTCAGCCTCCTGGGCATCC	0.633																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(2)	8								85,3535		3,79,1728						0.5	0.0			170	854,7024		39,776,3124	no	coding	RP1L1	NM_178857.5		42,855,4852	A1A1,A1R,RR		10.8403,2.3481,8.1666				939,10559				10503434	SO:0001651	inframe_deletion	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5584_5604delGAGGCTGAAGGGGAGGCCCAG	8.37:g.10466004_10466024delCTGGGCCTCCCCTTCAGCCTC	ENSP00000371923:p.Glu1862_Gln1868del	Somatic		Capture	Illumina HiSeq	Phase_I	10503414	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	In_Frame_Del	DEL	ENST00000382483.3	37	CCDS43708.1																																																																																				RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
PNPLA7	375775	hgsc.bcm.edu	37	9	140444627	140444628	+	Frame_Shift_Ins	INS	-	-	T	rs372921391|rs372038516	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr9:140444627_140444628insT	ENST00000277531.4	-	1	208_209	c.22_23insA	c.(22-24)agcfs	p.S8fs	PNPLA7_ENST00000406427.1_Frame_Shift_Ins_p.S8fs|MRPL41_ENST00000371443.5_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	8					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TACCTGTGGGCTGTCATCTTTC	0.559													C|T|TT|complex_insertion	13	0.00259585	0.0	0.0043	5008	,	,		18178	0.0		0.0099	False		,,,				2504	0.0																0			9							,	12,4252		0,12,2120					,	0.2	0.0			114	100,8154		0,100,4027	no	frameshift,frameshift	PNPLA7	NM_152286.3,NM_001098537.1	,	0,112,6147	A1A1,A1R,RR		1.2115,0.2814,0.8947	,	,		112,12406				139564449	SO:0001589	frameshift_variant	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.23dupA	9.37:g.140444628_140444628dupT	ENSP00000277531:p.Ser8fs	Somatic		Capture	Illumina HiSeq	Phase_I	139564448	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Ins	INS	ENST00000277531.4	37	CCDS7045.1																																																																																				PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
TCF7L2	6934	hgsc.bcm.edu	37	10	114901049	114901050	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr10:114901049_114901050insA	ENST00000355995.4	+	6	1166_1167	c.659_660insA	c.(658-663)ttaccafs	p.P221fs	TCF7L2_ENST00000534894.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000349937.2_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000352065.5_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000369397.4_Frame_Shift_Ins_p.P198fs|TCF7L2_ENST00000538897.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000545257.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000536810.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000543371.1_Frame_Shift_Ins_p.P221fs|TCF7L2_ENST00000369389.1_5'Flank|TCF7L2_ENST00000355717.4_Frame_Shift_Ins_p.P245fs|TCF7L2_ENST00000369395.1_Frame_Shift_Ins_p.P246fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	221	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P221fs*107(1)|p.P198fs*107(1)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCTCCACACTTACCAGCCGACG	0.589			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	2	Insertion - Frameshift(2)	large_intestine(2)	10																																								114891040	SO:0001589	frameshift_variant	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.660dupA	10.37:g.114901050_114901050dupA	ENSP00000348274:p.Pro221fs	Somatic		Capture	Illumina HiSeq	Phase_I	114891039	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Frame_Shift_Ins	INS	ENST00000355995.4	37																																																																																					TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
NDUFS8	4728	hgsc.bcm.edu	37	11	67795378	67795379	+	5'Flank	INS	-	-	C	rs11436139|rs397801590|rs58238184		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr11:67795378_67795379insC	ENST00000313468.5	+	0	0				NDUFS8_ENST00000528492.1_5'Flank|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000007633.8_Splice_Site|ALDH3B1_ENST00000539229.1_Splice_Site|RP5-901A4.1_ENST00000532296.1_RNA|ALDH3B1_ENST00000316367.6_Intron|ALDH3B1_ENST00000342456.6_Splice_Site	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						GGCCATGGAGGCCAAGGCTGCA	0.703													CCC|CC|CCC|deletion	5007	0.9998	0.9992	1.0	5008	,	,		16547	1.0		1.0	False		,,,				2504	1.0				Colon(116;1205 2770 20054)												0			11							,,	4124,30		2052,20,5					,,	-1.9	0.2		dbSNP_120	21	8086,22		4038,10,6	no	frameshift,frameshift,frameshift	ALDH3B1	NM_001161473.1,NM_001030010.1,NM_000694.2	,,	6090,30,11	A1A1,A1R,RR		0.2713,0.7222,0.4241	,,	,,		12210,52				67551955	SO:0001631	upstream_gene_variant	221			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331		11.37:g.67795380_67795380dupC	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	67551954	B2RB86|Q0VDA8	Frame_Shift_Ins	INS	ENST00000313468.5	37	CCDS8176.1																																																																																				NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496	
PRB1	5542	hgsc.bcm.edu	37	12	11506416	11506417	+	Intron	INS	-	-	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:11506416_11506417insC	ENST00000500254.2	-	4	351				PRB1_ENST00000546254.1_Intron|PRB1_ENST00000545626.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region (GO:0005576)				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCGGGACTTGTCTCCTTGTGG	0.614																																																	0			12																																								11397684	SO:0001627	intron_variant	5933				CCDS8642.1, CCDS55805.1	12p13.2	2012-10-02							9337	protein-coding gene	gene with protein product		180989				8317492	Standard	NM_199353		Approved	PM, PMF, PMS, PRB1M, PRB1L	uc001qzu.1	P04280		ENST00000500254.2:c.314-92->G	12.37:g.11506416_11506417insC		Somatic		Capture	Illumina HiSeq	Phase_I	11397683	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Frame_Shift_Ins	INS	ENST00000500254.2	37	CCDS8642.1																																																																																				PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs|KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs	Somatic		Capture	Illumina HiSeq	Phase_I	51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del	Somatic		Capture	Illumina HiSeq	Phase_I	120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT		Somatic		Capture	Illumina HiSeq	Phase_I	263602		Frame_Shift_Del	DEL		37																																																																																				0								
TP53	7157	hgsc.bcm.edu	37	17	7578194	7578195	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr17:7578194_7578195insC	ENST00000269305.4	-	6	843_844	c.654_655insG	c.(652-657)gtgcccfs	p.P219fs	TP53_ENST00000413465.2_Frame_Shift_Ins_p.P219fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Frame_Shift_Ins_p.P219fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P219fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.P219fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P219fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	219	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> C (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.V218del(5)|p.Y220fs*27(4)|p.P219S(4)|p.P219T(2)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.T211fs*28(1)|p.V218_P219insX(1)|p.V218V(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.P219C(1)|p.V216_Y220delVVVPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCTCATAGGGCACCACCACAC	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	46	Unknown(11)|Deletion - In frame(9)|Deletion - Frameshift(9)|Whole gene deletion(8)|Substitution - Missense(7)|Insertion - In frame(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(6)|endometrium(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|oesophagus(4)|bone(4)|central_nervous_system(3)|liver(3)|urinary_tract(2)|cervix(1)|vulva(1)|stomach(1)|soft_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	17	GRCh37	CM941330	TP53	M																																				7518920	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.655dupG	17.37:g.7578195_7578195dupC	ENSP00000269305:p.Pro219fs	Somatic		Capture	Illumina HiSeq	Phase_I	7518919	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TGIF1	7050	hgsc.bcm.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510|rs557543525|rs202189171	byFrequency	TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr18:3452223delT	ENST00000330513.5	+	1	549	c.246delT	c.(244-246)cctfs	p.P85fs	TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000401449.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													T|T|-|deletion	1280	0.255591	0.3419	0.2349	5008	,	,		10884	0.0109		0.4304	False		,,,				2504	0.226																1	Deletion - Frameshift(1)	large_intestine(1)	18											10.0	11.0	10.0					18																	3452223		2031	3818	5849	3442223	SO:0001589	frameshift_variant	7050			X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.246delT	18.37:g.3452223delT	ENSP00000327959:p.Pro85fs	Somatic		Capture	Illumina HiSeq	Phase_I	3442223	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Frame_Shift_Del	DEL	ENST00000330513.5	37	CCDS11834.1																																																																																				TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254368.4	NM_170695	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-AF-4110-01A-02D-1733-10	TCGA-AF-4110-10A-01D-1733-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	2794481a-dadf-4ccc-a915-e5189600c7e4	97a7e45c-67dd-4039-b8ea-6f7a385986a2	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	Somatic		Capture	Illumina HiSeq	Phase_I	44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
