#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
CARD11	84433	hgsc.bcm.edu	37	7	2962953	2962953	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:2962953G>A	ENST00000396946.4	-	16	2358	c.1955C>T	c.(1954-1956)tCg>tTg	p.S652L		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	652					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.S645L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AGAGGTGACCGAAGGCCGGAA	0.652			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - Missense(1)	lung(1)	7											31.0	36.0	34.0					7																	2962953		2190	4285	6475	2929479	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1955C>T	7.37:g.2962953G>A	ENSP00000380150:p.Ser652Leu	Somatic		Capture	Illumina HiSeq	Phase_I	2929479	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574010	0.45902	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.49432	0.78;0.78	4.89	4.89	0.63831	PDZ/DHR/GLGF (1);	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	L	0.27053	0.805	0.80722	D	1	D	0.56746	0.977	B	0.43052	0.406	T	0.31696	-0.9934	10	0.44086	T	0.13	-8.5532	16.2253	0.82286	0.0:0.0:1.0:0.0	.	652	Q9BXL7	CAR11_HUMAN	L	652;123	ENSP00000380150:S652L;ENSP00000347695:S123L	ENSP00000347695:S123L	S	-	2	0	CARD11	2929479	1.000000	0.71417	0.928000	0.36995	0.294000	0.27393	9.051000	0.93849	2.273000	0.75805	0.555000	0.69702	TCG		CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
PMS2	5395	hgsc.bcm.edu	37	7	6026616	6026616	+	Silent	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:6026616A>G	ENST00000265849.7	-	11	1885	c.1780T>C	c.(1780-1782)Tta>Cta	p.L594L	PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Silent_p.L488L|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	594					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GTATTTACTAACTTTTGACAA	0.368			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0			7											99.0	105.0	103.0					7																	6026616		2203	4300	6503	5993142	SO:0001819	synonymous_variant	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1780T>C	7.37:g.6026616A>G		Somatic		Capture	Illumina HiSeq	Phase_I	5993142	B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Silent	SNP	ENST00000265849.7	37	CCDS5343.1																																																																																				PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207353.3	NM_000535	
ANKMY2	57037	hgsc.bcm.edu	37	7	16649337	16649337	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:16649337A>G	ENST00000306999.2	-	7	1043	c.800T>C	c.(799-801)aTt>aCt	p.I267T		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	267						cilium (GO:0005929)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACTTTCTCTAATGATCTTTTC	0.393																																																	0			7											106.0	107.0	107.0					7																	16649337		2203	4300	6503	16615862	SO:0001583	missense	57037			AK001740	CCDS5361.1	7p21	2013-01-10			ENSG00000106524	ENSG00000106524		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	25370	protein-coding gene	gene with protein product						12477932	Standard	NM_020319		Approved	DKFZP564O043, ZMYND20	uc003sti.3	Q8IV38	OTTHUMG00000090806	ENST00000306999.2:c.800T>C	7.37:g.16649337A>G	ENSP00000303570:p.Ile267Thr	Somatic		Capture	Illumina HiSeq	Phase_I	16615862	A4D124|Q659G1|Q96BL3	Missense_Mutation	SNP	ENST00000306999.2	37	CCDS5361.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891196	0.72524	.	.	ENSG00000106524	ENST00000306999	D	0.82526	-1.62	6.03	6.03	0.97812	.	0.198948	0.53938	D	0.000057	D	0.84297	0.5441	M	0.76328	2.33	0.54753	D	0.999988	P	0.49253	0.921	B	0.42625	0.393	D	0.86719	0.1941	10	0.72032	D	0.01	-19.4836	16.5582	0.84512	1.0:0.0:0.0:0.0	.	267	Q8IV38	ANKY2_HUMAN	T	267	ENSP00000303570:I267T	ENSP00000303570:I267T	I	-	2	0	ANKMY2	16615862	1.000000	0.71417	0.990000	0.47175	0.958000	0.62258	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	ATT		ANKMY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207600.2	NM_020319	
DNAH11	8701	hgsc.bcm.edu	37	7	21765557	21765557	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:21765557T>C	ENST00000409508.3	+	45	7426	c.7395T>C	c.(7393-7395)gcT>gcC	p.A2465A	DNAH11_ENST00000328843.6_Silent_p.A2472A	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2472					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGCCCTGGGCTGACAAAATTG	0.403									Kartagener syndrome																																								0			7											64.0	68.0	66.0					7																	21765557		1836	4076	5912	21732082	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7395T>C	7.37:g.21765557T>C		Somatic		Capture	Illumina HiSeq	Phase_I	21732082	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37																																																																																					DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
FAM126A	84668	hgsc.bcm.edu	37	7	22999942	22999942	+	Silent	SNP	A	A	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:22999942A>C	ENST00000432176.2	-	10	1156	c.924T>G	c.(922-924)acT>acG	p.T308T	FAM126A_ENST00000409923.1_Silent_p.T308T|FAM126A_ENST00000498833.1_5'UTR	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	308					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						TTCGAGAGGAAGTTGGTGTGA	0.393																																																	0			7											273.0	242.0	253.0					7																	22999942		2203	4300	6503	22966467	SO:0001819	synonymous_variant	84668			BC018710	CCDS5377.1	7p15.3	2008-10-02			ENSG00000122591	ENSG00000122591			24587	protein-coding gene	gene with protein product	"""down regulated by Ctnnb1, a"""	610531				10910037, 16951682	Standard	NM_032581		Approved	DRCTNNB1A, HCC, HYCC1, hyccin	uc003svm.4	Q9BYI3	OTTHUMG00000128435	ENST00000432176.2:c.924T>G	7.37:g.22999942A>C		Somatic		Capture	Illumina HiSeq	Phase_I	22966467	A4D145|Q6N010|Q75MR4|Q7LDZ4|Q96MX1|Q96NQ6	Silent	SNP	ENST00000432176.2	37	CCDS5377.1	.	.	.	.	.	.	.	.	.	.	a	10.34	1.322796	0.23994	.	.	ENSG00000122591	ENST00000440481	.	.	.	5.36	1.54	0.23209	.	.	.	.	.	T	0.45135	0.1327	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23404	-1.0189	4	.	.	.	-12.2436	2.8599	0.05583	0.5586:0.1279:0.0682:0.2453	.	.	.	.	R	360	.	.	L	-	2	0	FAM126A	22966467	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.097000	0.50251	0.083000	0.17047	0.524000	0.50904	CTT		FAM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250230.1	NM_032581	
STX1A	6804	hgsc.bcm.edu	37	7	73117265	73117265	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:73117265C>A	ENST00000222812.3	-	8	614	c.588G>T	c.(586-588)gaG>gaT	p.E196D	STX1A_ENST00000484736.1_5'Flank|STX1A_ENST00000395155.3_Missense_Mutation_p.E196D|WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395154.3_Missense_Mutation_p.E196D|STX1A_ENST00000395156.3_Missense_Mutation_p.E196D	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	196	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGTGCCGCGTCTCAATCTCGC	0.602																																																	0			7											127.0	88.0	101.0					7																	73117265		2203	4300	6503	72755201	SO:0001583	missense	6804				CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.588G>T	7.37:g.73117265C>A	ENSP00000222812:p.Glu196Asp	Somatic		Capture	Illumina HiSeq	Phase_I	72755201	O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.845056	0.91197	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.26660	1.72;1.72;1.72;1.72	5.41	3.59	0.41128	t-SNARE (1);Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.44498	0.1296	M	0.86268	2.805	0.80722	D	1	P;D;P	0.57257	0.694;0.979;0.814	P;P;B	0.53988	0.739;0.703;0.356	T	0.52343	-0.8588	10	0.87932	D	0	-41.2047	10.4212	0.44352	0.0:0.835:0.0:0.165	.	196;196;196	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	D	105;196;196;196;196	ENSP00000222812:E196D;ENSP00000378585:E196D;ENSP00000378583:E196D;ENSP00000378584:E196D	ENSP00000222812:E196D	E	-	3	2	STX1A	72755201	1.000000	0.71417	0.995000	0.50966	0.813000	0.45954	3.832000	0.55783	1.295000	0.44724	0.561000	0.74099	GAG		STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603	
CACNA2D1	781	hgsc.bcm.edu	37	7	81601176	81601176	+	Silent	SNP	G	G	A	rs147499376	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:81601176G>A	ENST00000356253.5	-	26	2349	c.2094C>T	c.(2092-2094)aaC>aaT	p.N698N	CACNA2D1_ENST00000535308.1_5'Flank|CACNA2D1_ENST00000356860.3_Silent_p.N686N			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	698					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TCAAATCCGCGTTACCTAACA	0.294													G|||	6	0.00119808	0.0008	0.0	5008	,	,		14947	0.0		0.003	False		,,,				2504	0.002																0			7						G		0,4404		0,0,2202	68.0	70.0	69.0		2058	-4.7	0.8	7	dbSNP_134	69	2,8588	2.2+/-6.3	0,2,4293	no	coding-synonymous	CACNA2D1	NM_000722.2		0,2,6495	AA,AG,GG		0.0233,0.0,0.0154		686/1092	81601176	2,12992	2202	4295	6497	81439112	SO:0001819	synonymous_variant	781			M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.2094C>T	7.37:g.81601176G>A		Somatic		Capture	Illumina HiSeq	Phase_I	81439112	Q17R45|Q9UD80|Q9UD81|Q9UD82	Silent	SNP	ENST00000356253.5	37		3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	2.527	-0.309369	0.05458	0.0	2.33E-4	ENSG00000153956	ENST00000443883	.	.	.	5.22	-4.69	0.03299	.	.	.	.	.	T	0.63768	0.2539	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64647	-0.6358	4	.	.	.	-21.5342	15.1701	0.72865	0.8629:0.0:0.1371:0.0	.	.	.	.	M	197	.	.	T	-	2	0	CACNA2D1	81439112	0.275000	0.24201	0.803000	0.32268	0.463000	0.32649	0.269000	0.18589	-0.773000	0.04596	-0.203000	0.12734	ACG		CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding			
BAIAP2L1	55971	hgsc.bcm.edu	37	7	97920546	97920546	+	IGR	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:97920546C>T	ENST00000005260.8	-	0	3622				BRI3_ENST00000473967.1_3'UTR|BRI3_ENST00000539286.1_Intron|BRI3_ENST00000297290.3_Silent_p.T123T	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1						filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.T123T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GTGGAGCCACCTTCGCTTAAA	0.473																																																	1	Substitution - coding silent(1)	lung(1)	7											118.0	90.0	100.0					7																	97920546		2203	4300	6503	97758482	SO:0001628	intergenic_variant	81618			AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117		7.37:g.97920546C>T		Somatic		Capture	Illumina HiSeq	Phase_I	97758482	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Silent	SNP	ENST00000005260.8	37	CCDS34687.1																																																																																				BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842	
SLC26A4	5172	hgsc.bcm.edu	37	7	107342416	107342416	+	Missense_Mutation	SNP	G	G	A	rs199789119		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:107342416G>A	ENST00000265715.3	+	17	2172	c.1948G>A	c.(1948-1950)Gtt>Att	p.V650I	SLC26A4_ENST00000544569.1_Missense_Mutation_p.V237I|SLC26A4_ENST00000543100.1_Missense_Mutation_p.V219I|SLC26A4_ENST00000541474.1_Missense_Mutation_p.V211I	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	650	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAAAGTGAACGTTCCCAAAGT	0.463									Pendred syndrome				G|||	1	0.000199681	0.0	0.0	5008	,	,		18989	0.0		0.0	False		,,,				2504	0.001																0			7											131.0	110.0	117.0					7																	107342416		2203	4300	6503	107129652	SO:0001583	missense	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.1948G>A	7.37:g.107342416G>A	ENSP00000265715:p.Val650Ile	Somatic		Capture	Illumina HiSeq	Phase_I	107129652	B7Z266|O43170	Missense_Mutation	SNP	ENST00000265715.3	37	CCDS5746.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443248	0.63067	.	.	ENSG00000091137	ENST00000265715;ENST00000541474;ENST00000544569;ENST00000543100	D;D;D;D	0.94897	-3.21;-3.49;-3.55;-3.55	5.89	5.89	0.94794	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.067894	0.56097	D	0.000026	D	0.91727	0.7384	L	0.50919	1.6	0.37831	D	0.928733	P;P;P	0.46706	0.883;0.688;0.734	B;B;B	0.40825	0.189;0.307;0.341	D	0.91242	0.5022	10	0.27785	T	0.31	.	13.8722	0.63626	0.0781:0.0:0.9219:0.0	.	211;237;650	F5H104;B7Z6M6;O43511	.;.;S26A4_HUMAN	I	650;211;237;219	ENSP00000265715:V650I;ENSP00000439743:V211I;ENSP00000437427:V237I;ENSP00000441209:V219I	ENSP00000265715:V650I	V	+	1	0	SLC26A4	107129652	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.799000	0.75160	2.783000	0.95769	0.655000	0.94253	GTT		SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
KCND2	3751	hgsc.bcm.edu	37	7	119915600	119915600	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:119915600G>A	ENST00000331113.4	+	1	1879	c.914G>A	c.(913-915)cGc>cAc	p.R305H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	305					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	AAGTTTTCCCGCCACTCTCAA	0.512																																																	0			7											77.0	69.0	72.0					7																	119915600		2203	4300	6503	119702836	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.914G>A	7.37:g.119915600G>A	ENSP00000333496:p.Arg305His	Somatic		Capture	Illumina HiSeq	Phase_I	119702836	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.696516	0.88830	.	.	ENSG00000184408	ENST00000331113	D	0.98762	-5.12	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99281	0.9749	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99239	1.0884	9	.	.	.	.	19.5371	0.95257	0.0:0.0:1.0:0.0	.	305	Q9NZV8	KCND2_HUMAN	H	305	ENSP00000333496:R305H	.	R	+	2	0	KCND2	119702836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.706000	0.92434	0.557000	0.71058	CGC		KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
FEZF1	389549	hgsc.bcm.edu	37	7	121943863	121943863	+	Missense_Mutation	SNP	T	T	C	rs77195921		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:121943863T>C	ENST00000442488.2	-	1	696	c.629A>G	c.(628-630)gAg>gGg	p.E210G	FEZF1_ENST00000331178.4_Missense_Mutation_p.E210G|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.E160G|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	210					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AGGGTATTTCTCCACCGCCGG	0.522																																																	0			7											55.0	61.0	59.0					7																	121943863		2203	4300	6503	121731099	SO:0001583	missense	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.629A>G	7.37:g.121943863T>C	ENSP00000411145:p.Glu210Gly	Somatic		Capture	Illumina HiSeq	Phase_I	121731099	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	12.46	1.945747	0.34377	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08546	3.08;3.23;3.2	4.72	4.72	0.59763	.	0.150338	0.64402	D	0.000015	T	0.07413	0.0187	L	0.27053	0.805	0.38234	D	0.941116	B;P	0.36535	0.281;0.557	B;B	0.33890	0.057;0.172	T	0.28170	-1.0052	10	0.66056	D	0.02	-27.419	14.6406	0.68723	0.0:0.0:0.0:1.0	.	210;160	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	G	210;210;160	ENSP00000411145:E210G;ENSP00000332777:E210G;ENSP00000392727:E160G	ENSP00000332777:E210G	E	-	2	0	FEZF1	121731099	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.958000	0.49145	2.097000	0.63578	0.454000	0.30748	GAG		FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613	
IQUB	154865	hgsc.bcm.edu	37	7	123152365	123152365	+	Silent	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:123152365A>G	ENST00000466202.1	-	2	606	c.30T>C	c.(28-30)gcT>gcC	p.A10A	IQUB_ENST00000434450.1_Silent_p.A10A|IQUB_ENST00000324698.6_Silent_p.A10A|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	10					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CTATATTCTGAGCTTCATACT	0.333																																																	0			7											79.0	78.0	79.0					7																	123152365		2203	4300	6503	122939601	SO:0001819	synonymous_variant	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.30T>C	7.37:g.123152365A>G		Somatic		Capture	Illumina HiSeq	Phase_I	122939601	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	CCDS5787.1																																																																																				IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
AKR1B1	231	hgsc.bcm.edu	37	7	134134495	134134495	+	Missense_Mutation	SNP	T	T	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:134134495T>A	ENST00000285930.4	-	4	485	c.406A>T	c.(406-408)Acc>Tcc	p.T136S	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	136					C21-steroid hormone biosynthetic process (GO:0006700)|carbohydrate metabolic process (GO:0005975)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|response to stress (GO:0006950)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|electron carrier activity (GO:0009055)|glyceraldehyde oxidoreductase activity (GO:0043795)			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					Sulindac(DB00605)	AGAATGTTGGTGTCACTGGGA	0.453																																																	0			7											188.0	170.0	176.0					7																	134134495		2203	4300	6503	133785035	SO:0001583	missense	231			J04795	CCDS5831.1	7q35	2010-04-08			ENSG00000085662	ENSG00000085662	1.1.1.21	"""Aldo-keto reductases"""	381	protein-coding gene	gene with protein product		103880		ALDR1		1901827	Standard	NM_001628		Approved	AR	uc003vrp.1	P15121	OTTHUMG00000155322	ENST00000285930.4:c.406A>T	7.37:g.134134495T>A	ENSP00000285930:p.Thr136Ser	Somatic		Capture	Illumina HiSeq	Phase_I	133785035	B2R8N3|Q5U031|Q6FGA4|Q6ICP2|Q9BS21|Q9UCI9	Missense_Mutation	SNP	ENST00000285930.4	37	CCDS5831.1	.	.	.	.	.	.	.	.	.	.	T	14.50	2.554091	0.45487	.	.	ENSG00000085662	ENST00000285930	T	0.12672	2.66	5.74	2.05	0.26809	NADP-dependent oxidoreductase domain (3);	0.186853	0.56097	D	0.000021	T	0.08044	0.0201	N	0.25094	0.71	0.23440	N	0.997677	B	0.06786	0.001	B	0.06405	0.002	T	0.29882	-0.9997	10	0.36615	T	0.2	.	6.4597	0.21950	0.0:0.1382:0.1324:0.7293	.	136	P15121	ALDR_HUMAN	S	136	ENSP00000285930:T136S	ENSP00000285930:T136S	T	-	1	0	AKR1B1	133785035	0.997000	0.39634	0.002000	0.10522	0.148000	0.21650	3.808000	0.55598	0.172000	0.19760	0.459000	0.35465	ACC		AKR1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339448.2	NM_001628	
TAS2R5	54429	hgsc.bcm.edu	37	7	141490252	141490252	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:141490252A>C	ENST00000247883.4	+	1	236	c.91A>C	c.(91-93)Agt>Cgt	p.S31R		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	31					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GGTGGTCTGGAGTTTTAGAGA	0.498																																																	0			7											103.0	102.0	103.0					7																	141490252		2203	4300	6503	141136721	SO:0001583	missense	54429			AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.91A>C	7.37:g.141490252A>C	ENSP00000247883:p.Ser31Arg	Somatic		Capture	Illumina HiSeq	Phase_I	141136721	Q645W0|Q75MV7	Missense_Mutation	SNP	ENST00000247883.4	37	CCDS5869.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347123	0.24426	.	.	ENSG00000127366	ENST00000247883	T	0.37058	1.22	4.13	1.59	0.23543	.	.	.	.	.	T	0.42562	0.1208	L	0.36672	1.1	0.23559	N	0.997415	D	0.61697	0.99	D	0.67900	0.954	T	0.19289	-1.0310	9	0.87932	D	0	.	4.6723	0.12694	0.6061:0.201:0.0:0.1929	.	31	Q9NYW4	TA2R5_HUMAN	R	31	ENSP00000247883:S31R	ENSP00000247883:S31R	S	+	1	0	TAS2R5	141136721	0.983000	0.35010	0.155000	0.22561	0.004000	0.04260	1.665000	0.37449	0.215000	0.20761	0.459000	0.35465	AGT		TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1		
GIMAP8	155038	hgsc.bcm.edu	37	7	150174281	150174281	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:150174281C>A	ENST00000307271.3	+	5	1985	c.1411C>A	c.(1411-1413)Cag>Aag	p.Q471K		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	471	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCTCCGGGCCCAGCCAGTCAC	0.602																																																	0			7											69.0	68.0	68.0					7																	150174281		2203	4300	6503	149805214	SO:0001583	missense	155038			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1411C>A	7.37:g.150174281C>A	ENSP00000305107:p.Gln471Lys	Somatic		Capture	Illumina HiSeq	Phase_I	149805214		Missense_Mutation	SNP	ENST00000307271.3	37	CCDS34777.1	.	.	.	.	.	.	.	.	.	.	C	10.39	1.336141	0.24253	.	.	ENSG00000171115	ENST00000307271	T	0.33865	1.39	4.44	1.48	0.22813	AIG1 (1);	0.167176	0.28549	N	0.014959	T	0.16642	0.0400	N	0.25380	0.74	0.09310	N	1	B	0.15719	0.014	B	0.16289	0.015	T	0.27571	-1.0070	10	0.02654	T	1	.	4.6076	0.12385	0.393:0.5014:0.0:0.1056	.	471	Q8ND71	GIMA8_HUMAN	K	471	ENSP00000305107:Q471K	ENSP00000305107:Q471K	Q	+	1	0	GIMAP8	149805214	0.000000	0.05858	0.156000	0.22583	0.016000	0.09150	-0.515000	0.06290	1.099000	0.41499	-0.152000	0.13540	CAG		GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350701.1	NM_175571	
PDYN	5173	hgsc.bcm.edu	37	20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A	rs201486601		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr20:1961100G>A	ENST00000217305.2	-	4	859	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	PDYN_ENST00000539905.1_Missense_Mutation_p.R212W|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Missense_Mutation_p.R212W	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect; dbSNP:rs201486601). {ECO:0000269|PubMed:21035104}.		cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGAATGCGCCGCAAGAAGCCC	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16226	0.0		0.0	False		,,,				2504	0.0																0			20											102.0	113.0	109.0					20																	1961100		2203	4300	6503	1909100	SO:0001583	missense	5173				CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.634C>T	20.37:g.1961100G>A	ENSP00000217305:p.Arg212Trp	Somatic		Capture	Illumina HiSeq	Phase_I	1909100	A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	CCDS13023.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	20.2	3.944983	0.73672	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.85556	-2.0;-2.0;-2.0	5.0	-3.04	0.05412	.	0.000000	0.85682	D	0.000000	D	0.92378	0.7581	M	0.89601	3.045	0.54753	D	0.999988	D	0.89917	1.0	D	0.97110	1.0	D	0.91682	0.5359	10	0.59425	D	0.04	-24.1261	16.3704	0.83355	0.0:0.0:0.2532:0.7468	.	212	P01213	PDYN_HUMAN	W	212	ENSP00000440185:R212W;ENSP00000442259:R212W;ENSP00000217305:R212W	ENSP00000217305:R212W	R	-	1	2	PDYN	1909100	1.000000	0.71417	0.822000	0.32727	0.984000	0.73092	0.612000	0.24283	-0.750000	0.04740	0.313000	0.20887	CGG		PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2		
TGM6	343641	hgsc.bcm.edu	37	20	2397925	2397925	+	Missense_Mutation	SNP	T	T	C	rs199968743		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr20:2397925T>C	ENST00000202625.2	+	10	1445	c.1384T>C	c.(1384-1386)Ttc>Ctc	p.F462L	TGM6_ENST00000381423.1_Missense_Mutation_p.F462L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	462					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAACAGGCTGTTCGGCGTGGA	0.617																																																	0			20											34.0	29.0	31.0					20																	2397925		2203	4299	6502	2345925	SO:0001583	missense	343641			AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1384T>C	20.37:g.2397925T>C	ENSP00000202625:p.Phe462Leu	Somatic		Capture	Illumina HiSeq	Phase_I	2345925	Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	T	0.312	-0.966965	0.02232	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.79352	-1.1;-1.26	4.54	2.83	0.33086	.	0.831098	0.09649	U	0.773870	T	0.59998	0.2235	N	0.16478	0.41	0.24015	N	0.996168	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.45338	-0.9268	10	0.28530	T	0.3	-11.0013	5.3108	0.15829	0.0:0.2038:0.0:0.7962	.	462;462	O95932-2;O95932	.;TGM3L_HUMAN	L	462	ENSP00000202625:F462L;ENSP00000370831:F462L	ENSP00000202625:F462L	F	+	1	0	TGM6	2345925	0.947000	0.32204	0.675000	0.29917	0.065000	0.16274	0.151000	0.16283	0.463000	0.27118	0.460000	0.39030	TTC		TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994	
KIF16B	55614	hgsc.bcm.edu	37	20	16474981	16474981	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr20:16474981G>A	ENST00000354981.2	-	12	1414	c.1257C>T	c.(1255-1257)acC>acT	p.T419T	KIF16B_ENST00000408042.1_Silent_p.T419T|KIF16B_ENST00000355755.3_Silent_p.T419T|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	419					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCATTCCTTGGTCAATTCTT	0.308																																																	0			20											99.0	88.0	92.0					20																	16474981		2199	4297	6496	16422981	SO:0001819	synonymous_variant	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1257C>T	20.37:g.16474981G>A		Somatic		Capture	Illumina HiSeq	Phase_I	16422981	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	37	CCDS13122.1																																																																																				KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
MYL9	10398	hgsc.bcm.edu	37	20	35177484	35177484	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr20:35177484C>A	ENST00000279022.2	+	4	455	c.351C>A	c.(349-351)ttC>ttA	p.F117L	RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Missense_Mutation_p.F63L|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	117	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCGCAGGTTTCATCCATGAGG	0.602																																																	0			20											64.0	59.0	61.0					20																	35177484		2203	4300	6503	34610898	SO:0001583	missense	10398			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.351C>A	20.37:g.35177484C>A	ENSP00000279022:p.Phe117Leu	Somatic		Capture	Illumina HiSeq	Phase_I	34610898	E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277111	0.23307	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.78816	-1.21;2.98	4.7	-3.05	0.05396	EF-hand-like domain (1);	0.221758	0.46145	D	0.000303	T	0.62889	0.2465	L	0.42744	1.35	0.19300	N	0.99998	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.48222	-0.9054	10	0.16896	T	0.51	.	10.7229	0.46050	0.0:0.4035:0.0:0.5965	.	63;117	Q9BUF9;P24844	.;MYL9_HUMAN	L	117;63	ENSP00000279022:F117L;ENSP00000217313:F63L	ENSP00000279022:F117L	F	+	3	2	MYL9	34610898	0.995000	0.38212	0.610000	0.28997	0.365000	0.29674	0.485000	0.22324	-0.865000	0.04073	-0.302000	0.09304	TTC		MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097	
ZMYND8	23613	hgsc.bcm.edu	37	20	45850063	45850063	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr20:45850063G>A	ENST00000311275.7	-	20	3512	c.3259C>T	c.(3259-3261)Cag>Tag	p.Q1087*	ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.Q1061*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.Q1114*|ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.Q978*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.Q1036*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.Q1009*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.Q1061*|ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.Q955*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.Q1107*|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.Q1087*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.Q1041*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.Q1087*|ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.Q1035*	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1087					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GAGCTCCCCTGGGAGGACTTA	0.542																																																	0			20											115.0	97.0	103.0					20																	45850063		2203	4300	6503	45283470	SO:0001587	stop_gained	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.3259C>T	20.37:g.45850063G>A	ENSP00000312237:p.Gln1087*	Somatic		Capture	Illumina HiSeq	Phase_I	45283470	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Nonsense_Mutation	SNP	ENST00000311275.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.677406|6.677406	0.97755|0.97755	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000467200|ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.335390	.|0.34314	.|N	.|0.004062	T|.	0.66519|.	0.2797|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61242|.	-0.7102|.	3|.	.|0.20046	.|T	.|0.44	-0.9225|-0.9225	17.6984|17.6984	0.88288|0.88288	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	L|X	968|1036;1087;955;1042;1108;1061;1087;1114;1087;978;1061;1009;1035	.|.	.|ENSP00000262975:Q1042X	P|Q	-|-	2|1	0|0	ZMYND8|ZMYND8	45283470|45283470	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.062000|0.062000	0.15995|0.15995	6.611000|6.611000	0.74183|0.74183	2.599000|2.599000	0.87857|0.87857	0.650000|0.650000	0.86243|0.86243	CCA|CAG		ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047	
CBLN4	140689	hgsc.bcm.edu	37	20	54579076	54579076	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr20:54579076T>C	ENST00000064571.2	-	1	1452	c.152A>G	c.(151-153)gAc>gGc	p.D51G		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	51					protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GCCCTTGGAGTCCGTGGCCGG	0.682																																																	0			20											63.0	63.0	63.0					20																	54579076		2203	4300	6503	54012483	SO:0001583	missense	140689			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.152A>G	20.37:g.54579076T>C	ENSP00000064571:p.Asp51Gly	Somatic		Capture	Illumina HiSeq	Phase_I	54012483	A8K0S5	Missense_Mutation	SNP	ENST00000064571.2	37	CCDS13448.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.462394	0.63513	.	.	ENSG00000054803	ENST00000064571	D	0.85258	-1.96	5.16	5.16	0.70880	.	0.144833	0.64402	D	0.000005	D	0.82342	0.5016	M	0.66939	2.045	0.80722	D	1	P	0.37864	0.61	B	0.33521	0.165	T	0.81113	-0.1080	10	0.25106	T	0.35	-29.2465	15.2996	0.73936	0.0:0.0:0.0:1.0	.	51	Q9NTU7	CBLN4_HUMAN	G	51	ENSP00000064571:D51G	ENSP00000064571:D51G	D	-	2	0	CBLN4	54012483	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.620000	0.61226	2.073000	0.62155	0.533000	0.62120	GAC		CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079783.2	NM_080617	
ADRBK2	157	hgsc.bcm.edu	37	22	26114292	26114292	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr22:26114292C>T	ENST00000324198.6	+	19	1927	c.1735C>T	c.(1735-1737)Cgc>Tgc	p.R579C		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	579	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GTGGCAGCGTCGCTATTTTTA	0.483																																																	0			22											124.0	124.0	124.0					22																	26114292		2203	4300	6503	24444292	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1735C>T	22.37:g.26114292C>T	ENSP00000317578:p.Arg579Cys	Somatic		Capture	Illumina HiSeq	Phase_I	24444292	Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265548	0.80358	.	.	ENSG00000100077	ENST00000324198	T	0.80393	-1.37	5.3	4.25	0.50352	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.88482	0.3069	10	0.87932	D	0	-11.7234	14.4571	0.67423	0.1483:0.8517:0.0:0.0	.	579	P35626	ARBK2_HUMAN	C	579	ENSP00000317578:R579C	ENSP00000317578:R579C	R	+	1	0	ADRBK2	24444292	1.000000	0.71417	0.323000	0.25347	0.990000	0.78478	5.259000	0.65485	1.321000	0.45227	0.655000	0.94253	CGC		ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	
TTC28	23331	hgsc.bcm.edu	37	22	28503861	28503861	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr22:28503861C>T	ENST00000397906.2	-	7	2113	c.1972G>A	c.(1972-1974)Gaa>Aaa	p.E658K		NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	658					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						AGATCCTGTTCGTAGTACTTC	0.498																																																	0			22											91.0	74.0	79.0					22																	28503861		692	1591	2283	26833861	SO:0001583	missense	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.1972G>A	22.37:g.28503861C>T	ENSP00000381003:p.Glu658Lys	Somatic		Capture	Illumina HiSeq	Phase_I	26833861	K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Missense_Mutation	SNP	ENST00000397906.2	37	CCDS46678.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364528	0.82463	.	.	ENSG00000100154	ENST00000397906	D	0.89746	-2.56	6.11	6.11	0.99139	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.92987	0.7768	L	0.49256	1.55	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.91550	0.5256	10	0.42905	T	0.14	-26.1147	19.7224	0.96148	0.0:1.0:0.0:0.0	.	658	Q96AY4	TTC28_HUMAN	K	658	ENSP00000381003:E658K	ENSP00000381003:E658K	E	-	1	0	TTC28	26833861	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.298000	0.78815	2.906000	0.99361	0.655000	0.94253	GAA		TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000320930.2	XM_929318	
NF2	4771	hgsc.bcm.edu	37	22	30038259	30038259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr22:30038259C>A	ENST00000338641.4	+	4	873	c.432C>A	c.(430-432)taC>taA	p.Y144*	NF2_ENST00000361676.4_Nonsense_Mutation_p.Y102*|NF2_ENST00000413209.2_Nonsense_Mutation_p.Y144*|NF2_ENST00000361452.4_Nonsense_Mutation_p.Y103*|NF2_ENST00000353887.4_Nonsense_Mutation_p.Y61*|NF2_ENST00000334961.7_Nonsense_Mutation_p.Y61*|NF2_ENST00000347330.5_Nonsense_Mutation_p.Y61*|NF2_ENST00000403999.3_Nonsense_Mutation_p.Y144*|NF2_ENST00000361166.4_Nonsense_Mutation_p.Y144*|NF2_ENST00000397789.3_Nonsense_Mutation_p.Y144*|NF2_ENST00000403435.1_Nonsense_Mutation_p.Y144*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	144	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.V122_K149del(5)|p.Y144*(4)|p.?(2)|p.Y144fs*1(1)|p.Y144fs*5(1)|p.Y144fs*29(1)|p.K123fs*2(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGGCTTCTTACGCCGTCCAGG	0.448			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	15	Deletion - In frame(5)|Substitution - Nonsense(4)|Deletion - Frameshift(3)|Unknown(2)|Insertion - Frameshift(1)	soft_tissue(8)|meninges(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)	22	GRCh37	CM045424|CM077954	NF2	M							78.0	75.0	76.0					22																	30038259		2203	4300	6503	28368259	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.432C>A	22.37:g.30038259C>A	ENSP00000344666:p.Tyr144*	Somatic		Capture	Illumina HiSeq	Phase_I	28368259	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	37	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	33	5.290713	0.95546	.	.	ENSG00000186575	ENST00000413209;ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.24	-10.5	0.00291	.	0.059373	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.7817	0.99721	0.0:0.2486:0.0:0.7514	.	.	.	.	X	144;61;144;144;103;144;144;61;61;144;102;144	.	.	Y	+	3	2	NF2	28368259	0.003000	0.15002	0.088000	0.20740	0.887000	0.51463	-1.378000	0.02556	-2.437000	0.00552	-1.553000	0.00894	TAC		NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
APOBEC3C	27350	hgsc.bcm.edu	37	22	39411748	39411748	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr22:39411748C>T	ENST00000361441.4	+	2	446	c.166C>T	c.(166-168)Cga>Tga	p.R56*	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	56					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					GGGCGTCTTCCGAAACCAGGT	0.522																																																	0			22											74.0	71.0	72.0					22																	39411748		2203	4300	6503	37741694	SO:0001587	stop_gained	27350			AF165520	CCDS13983.1	22q13.1-q13.2	2014-01-28			ENSG00000244509	ENSG00000244509		"""Apolipoprotein B mRNA editing enzymes"""	17353	protein-coding gene	gene with protein product		607750				11863358	Standard	NM_014508		Approved	APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5	uc003awr.3	Q9NRW3	OTTHUMG00000151087	ENST00000361441.4:c.166C>T	22.37:g.39411748C>T	ENSP00000355340:p.Arg56*	Somatic		Capture	Illumina HiSeq	Phase_I	37741694	B2R884|Q5JZ92|Q7Z2N7|Q96F12	Nonsense_Mutation	SNP	ENST00000361441.4	37	CCDS13983.1	.	.	.	.	.	.	.	.	.	.	.	20.1	3.939747	0.73557	.	.	ENSG00000244509	ENST00000361441	.	.	.	2.08	-2.02	0.07388	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9283	0.05792	0.48:0.3521:0.0:0.1679	.	.	.	.	X	56	.	ENSP00000355340:R56X	R	+	1	2	APOBEC3C	37741694	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.063000	0.11655	-0.421000	0.07416	-0.451000	0.05528	CGA		APOBEC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321241.2	NM_014508	
PDGFB	5155	hgsc.bcm.edu	37	22	39621756	39621756	+	Missense_Mutation	SNP	G	G	A	rs531185137		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr22:39621756G>A	ENST00000331163.6	-	6	1485	c.698C>T	c.(697-699)aCg>aTg	p.T233M	PDGFB_ENST00000381551.4_Missense_Mutation_p.T218M	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	233					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					CTTCAGTGCCGTCTTGTCATG	0.627			T	COL1A1	DFSP																																			Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	0			22											184.0	133.0	150.0					22																	39621756		2203	4300	6503	37951702	SO:0001583	missense	5155				CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.698C>T	22.37:g.39621756G>A	ENSP00000330382:p.Thr233Met	Somatic		Capture	Illumina HiSeq	Phase_I	37951702	G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	Missense_Mutation	SNP	ENST00000331163.6	37	CCDS13987.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261435	0.39995	.	.	ENSG00000100311	ENST00000331163;ENST00000381551	T;T	0.44881	0.91;0.91	5.3	-7.99	0.01131	.	1.136760	0.06381	N	0.715224	T	0.23492	0.0568	N	0.14661	0.345	0.09310	N	1	P;P	0.38992	0.521;0.653	B;B	0.37480	0.128;0.251	T	0.42310	-0.9459	10	0.62326	D	0.03	-3.1384	11.2086	0.48784	0.1684:0.0:0.5628:0.2688	.	233;218	P01127;G3XAG8	PDGFB_HUMAN;.	M	233;218	ENSP00000330382:T233M;ENSP00000370963:T218M	ENSP00000330382:T233M	T	-	2	0	PDGFB	37951702	0.566000	0.26618	0.099000	0.21106	0.928000	0.56348	-0.056000	0.11787	-1.289000	0.02375	-1.608000	0.00805	ACG		PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321043.1	NM_002608	
LTB4R2	56413	hgsc.bcm.edu	37	14	24780890	24780890	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr14:24780890C>T	ENST00000528054.1	+	1	2730	c.1113C>T	c.(1111-1113)cgC>cgT	p.R371R	LTB4R2_ENST00000533293.1_Silent_p.R340R|CIDEB_ENST00000258807.5_5'Flank|LTB4R_ENST00000396789.4_5'Flank|CIDEB_ENST00000336557.5_5'Flank|LTB4R2_ENST00000543919.1_Silent_p.R340R|CIDEB_ENST00000555817.1_5'Flank|LTB4R_ENST00000345363.3_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	371					chemotaxis (GO:0006935)|keratinocyte migration (GO:0051546)|negative regulation of adenylate cyclase activity (GO:0007194)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	leukotriene B4 receptor activity (GO:0001632)|leukotriene receptor activity (GO:0004974)			endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGCAGGGCCGCGGCAATGGAG	0.652																																																	0			14											32.0	40.0	37.0					14																	24780890		2192	4267	6459	23850730	SO:0001819	synonymous_variant	56413			AB008193	CCDS9625.1, CCDS9625.2	14q12	2014-04-11			ENSG00000213906	ENSG00000213906		"""GPCR / Class A : Leukotriene receptors"""	19260	protein-coding gene	gene with protein product		605773				11006272, 10934229	Standard	NM_001164692		Approved	BLTR2, BLT2, JULF2, NOP9	uc001wor.3	Q9NPC1	OTTHUMG00000186500	ENST00000528054.1:c.1113C>T	14.37:g.24780890C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23850730	Q5KU28|Q9NPE5	Silent	SNP	ENST00000528054.1	37																																																																																					LTB4R2-001	KNOWN	basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000073194.4		
SYNE3	161176	hgsc.bcm.edu	37	14	95921951	95921951	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr14:95921951T>C	ENST00000334258.5	-	5	914	c.900A>G	c.(898-900)ggA>ggG	p.G300G	SYNE3_ENST00000557275.1_Silent_p.G300G|SYNE3_ENST00000553340.1_Silent_p.G300G|SYNE3_ENST00000554873.1_Silent_p.G57G	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	300					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTTCCAGTTCTCCGGTGATCT	0.622																																																	0			14											106.0	112.0	110.0					14																	95921951		2203	4300	6503	94991704	SO:0001819	synonymous_variant	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.900A>G	14.37:g.95921951T>C		Somatic		Capture	Illumina HiSeq	Phase_I	94991704	A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	CCDS9935.1																																																																																				SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
BCL11B	64919	hgsc.bcm.edu	37	14	99642456	99642456	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr14:99642456G>A	ENST00000357195.3	-	4	726	c.717C>T	c.(715-717)caC>caT	p.H239H	BCL11B_ENST00000345514.2_Silent_p.H168H|BCL11B_ENST00000443726.2_Silent_p.H45H	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	239					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTTCTGCGCGTGCTGCAGCA	0.647			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0			14											32.0	30.0	31.0					14																	99642456		2201	4299	6500	98712209	SO:0001819	synonymous_variant	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.717C>T	14.37:g.99642456G>A		Somatic		Capture	Illumina HiSeq	Phase_I	98712209	Q9H162	Silent	SNP	ENST00000357195.3	37	CCDS9950.1																																																																																				BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576	
RTL1	388015	hgsc.bcm.edu	37	14	101349854	101349854	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr14:101349854C>T	ENST00000534062.1	-	1	1330	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	424					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGGCCTGGACCGCGACGCTGT	0.602																																																	0			14											22.0	23.0	23.0					14																	101349854		692	1591	2283	100419607	SO:0001819	synonymous_variant	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.1272G>A	14.37:g.101349854C>T		Somatic		Capture	Illumina HiSeq	Phase_I	100419607	E9PKS8	Silent	SNP	ENST00000534062.1	37	CCDS53910.1																																																																																				RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1	NM_001134888	
TMPRSS9	360200	hgsc.bcm.edu	37	19	2413777	2413777	+	Missense_Mutation	SNP	G	G	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:2413777G>C	ENST00000332578.3	+	9	1232	c.1232G>C	c.(1231-1233)gGg>gCg	p.G411A		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	411	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGAATCGGGTGTGCGGAA	0.647																																																	0			19											62.0	68.0	66.0					19																	2413777		2203	4300	6503	2364777	SO:0001583	missense	360200			AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1232G>C	19.37:g.2413777G>C	ENSP00000330264:p.Gly411Ala	Somatic		Capture	Illumina HiSeq	Phase_I	2364777	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598482	0.46318	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	D	0.89746	-2.56	3.93	3.93	0.45458	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.274143	0.25517	N	0.030132	D	0.94486	0.8225	M	0.85197	2.74	0.54753	D	0.999988	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.953	D	0.95294	0.8397	10	0.72032	D	0.01	.	14.5809	0.68288	0.0:0.0:1.0:0.0	.	411;445	Q7Z410;E7EMP4	TMPS9_HUMAN;.	A	445;411	ENSP00000330264:G411A	ENSP00000330264:G411A	G	+	2	0	TMPRSS9	2364777	1.000000	0.71417	0.100000	0.21137	0.024000	0.10985	9.769000	0.98969	1.755000	0.51935	0.555000	0.69702	GGG		TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973	
XAB2	56949	hgsc.bcm.edu	37	19	7685874	7685874	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:7685874C>T	ENST00000358368.4	-	14	1866	c.1829G>A	c.(1828-1830)cGg>cAg	p.R610Q	XAB2_ENST00000534844.1_Missense_Mutation_p.R607Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	610					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CATGGCATGCCGGGCCAGGCC	0.662								Direct reversal of damage;Nucleotide excision repair (NER)																																									0			19											14.0	13.0	13.0					19																	7685874		2177	4273	6450	7591874	SO:0001583	missense	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1829G>A	19.37:g.7685874C>T	ENSP00000351137:p.Arg610Gln	Somatic		Capture	Illumina HiSeq	Phase_I	7591874	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	ENST00000358368.4	37	CCDS32892.1	.	.	.	.	.	.	.	.	.	.	C	33	5.277297	0.95459	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.04049	3.72;3.72	4.4	4.4	0.53042	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.16300	0.0392	M	0.89214	3.015	0.80722	D	1	D	0.65815	0.995	P	0.48552	0.581	T	0.11470	-1.0586	10	0.62326	D	0.03	-29.631	15.7467	0.77949	0.0:1.0:0.0:0.0	.	610	Q9HCS7	SYF1_HUMAN	Q	610;607	ENSP00000351137:R610Q;ENSP00000438225:R607Q	ENSP00000351137:R610Q	R	-	2	0	XAB2	7591874	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.663000	0.68038	1.984000	0.57885	0.467000	0.42956	CGG		XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196	
MUC16	94025	hgsc.bcm.edu	37	19	9074564	9074564	+	Silent	SNP	G	G	A	rs370292934		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:9074564G>A	ENST00000397910.4	-	3	13085	c.12882C>T	c.(12880-12882)tcC>tcT	p.S4294S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4296	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTGGTCTCGGAGGAGCCAA	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		22938	0.001		0.0	False		,,,				2504	0.0																0			19											109.0	106.0	107.0					19																	9074564		2034	4182	6216	8935564	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12882C>T	19.37:g.9074564G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8935564	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9087432	9087432	+	Silent	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:9087432C>A	ENST00000397910.4	-	1	4586	c.4383G>T	c.(4381-4383)ctG>ctT	p.L1461L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1461	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTGGTACTCAGCCATGTTG	0.483																																																	0			19											113.0	112.0	113.0					19																	9087432		1966	4147	6113	8948432	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4383G>T	19.37:g.9087432C>A		Somatic		Capture	Illumina HiSeq	Phase_I	8948432	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF536	9745	hgsc.bcm.edu	37	19	30934886	30934886	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:30934886C>T	ENST00000355537.3	+	2	564	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	139					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.F139F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGCGCTTCCGCTTCAACA	0.637																																																	1	Substitution - coding silent(1)	ovary(1)	19											66.0	54.0	58.0					19																	30934886		2203	4300	6503	35626726	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.417C>T	19.37:g.30934886C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35626726	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
UBA2	10054	hgsc.bcm.edu	37	19	34934804	34934804	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:34934804C>T	ENST00000246548.4	+	7	707	c.637C>T	c.(637-639)Cct>Tct	p.P213S	UBA2_ENST00000439527.2_Missense_Mutation_p.P117S	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	213					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAGAGCTGACCCTGAAGCTGC	0.323																																																	0			19											95.0	97.0	96.0					19																	34934804		2203	4300	6503	39626644	SO:0001583	missense	10054			BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.637C>T	19.37:g.34934804C>T	ENSP00000246548:p.Pro213Ser	Somatic		Capture	Illumina HiSeq	Phase_I	39626644	B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Missense_Mutation	SNP	ENST00000246548.4	37	CCDS12439.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.895650	0.91962	.	.	ENSG00000126261	ENST00000542624;ENST00000246548;ENST00000439527	T;T	0.58060	0.36;1.51	5.02	5.02	0.67125	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	M	0.81802	2.56	0.80722	D	1	P	0.52170	0.951	P	0.48304	0.573	T	0.68849	-0.5300	10	0.45353	T	0.12	-11.4467	17.4857	0.87687	0.0:1.0:0.0:0.0	.	213	Q9UBT2	SAE2_HUMAN	S	86;213;117	ENSP00000246548:P213S;ENSP00000437484:P117S	ENSP00000246548:P213S	P	+	1	0	UBA2	39626644	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.313000	0.78978	2.477000	0.83638	0.591000	0.81541	CCT		UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3	NM_005499	
MEGF8	1954	hgsc.bcm.edu	37	19	42863347	42863347	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:42863347T>G	ENST00000251268.6	+	31	5441	c.5441T>G	c.(5440-5442)cTg>cGg	p.L1814R	MEGF8_ENST00000334370.4_Missense_Mutation_p.L1747R	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1814					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AGCGACGTTCTGCTCTACCAG	0.647																																																	0			19											44.0	35.0	38.0					19																	42863347		2202	4300	6502	47555187	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.5441T>G	19.37:g.42863347T>G	ENSP00000251268:p.Leu1814Arg	Somatic		Capture	Illumina HiSeq	Phase_I	47555187	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		.	.	.	.	.	.	.	.	.	.	T	19.88	3.909055	0.72868	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.62941	-0.01;-0.01	4.69	4.69	0.59074	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.143577	0.36591	N	0.002513	T	0.68091	0.2963	L	0.28556	0.865	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.72625	0.978;0.899	T	0.72124	-0.4385	10	0.87932	D	0	-9.448	13.1429	0.59444	0.0:0.0:0.0:1.0	.	1814;1747	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	R	1747;1814	ENSP00000334219:L1747R;ENSP00000251268:L1814R	ENSP00000251268:L1814R	L	+	2	0	MEGF8	47555187	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	3.708000	0.54845	1.756000	0.51951	0.374000	0.22700	CTG		MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
SIGLEC5	8778	hgsc.bcm.edu	37	19	52130922	52130922	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:52130922G>A	ENST00000534261.2	-	7	1474	c.1075C>T	c.(1075-1077)Ccg>Tcg	p.P359S	SIGLEC5_ENST00000429354.3_Missense_Mutation_p.P359S|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.P359S|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.P359S|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.P359S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	359					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAGGGGGCCGGCCGGGCTCGA	0.672																																																	0			19											10.0	13.0	12.0					19																	52130922		2190	4284	6474	56822734	SO:0001583	missense	8778			U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.1075C>T	19.37:g.52130922G>A	ENSP00000473238:p.Pro359Ser	Somatic		Capture	Illumina HiSeq	Phase_I	56822734		Missense_Mutation	SNP	ENST00000534261.2	37	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	G	11.64	1.697842	0.30142	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	D;D	0.95377	-3.69;-3.69	4.15	4.15	0.48705	.	3.326270	0.01401	N	0.013593	D	0.98283	0.9431	M	0.88181	2.935	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	D	0.87290	0.2298	10	0.87932	D	0	.	12.1214	0.53893	0.0:0.0:1.0:0.0	.	359	O15389	SIGL5_HUMAN	S	359	ENSP00000222107:P359S;ENSP00000415200:P359S	ENSP00000222107:P359S	P	-	1	0	SIGLEC5	56822734	0.780000	0.28664	0.024000	0.17045	0.005000	0.04900	4.107000	0.57811	2.311000	0.77944	0.551000	0.68910	CCG		SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830	
NLRP12	91662	hgsc.bcm.edu	37	19	54313398	54313398	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:54313398G>T	ENST00000324134.6	-	3	1683	c.1515C>A	c.(1513-1515)aaC>aaA	p.N505K	NLRP12_ENST00000351894.4_Missense_Mutation_p.N505K|NLRP12_ENST00000354278.3_Missense_Mutation_p.N505K|NLRP12_ENST00000391773.1_Missense_Mutation_p.N505K|NLRP12_ENST00000391775.3_Missense_Mutation_p.N505K|NLRP12_ENST00000535162.1_Missense_Mutation_p.N505K|NLRP12_ENST00000345770.5_Missense_Mutation_p.N505K|NLRP12_ENST00000391772.1_Missense_Mutation_p.N505K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	505	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)	p.N505N(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACCTCTCACAGTTGATGTCCT	0.527																																																	1	Substitution - coding silent(1)	ovary(1)	19											119.0	120.0	119.0					19																	54313398		2203	4300	6503	59005210	SO:0001583	missense	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.1515C>A	19.37:g.54313398G>T	ENSP00000319377:p.Asn505Lys	Somatic		Capture	Illumina HiSeq	Phase_I	59005210	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	ENST00000324134.6	37	CCDS12864.1	.	.	.	.	.	.	.	.	.	.	G	9.879	1.200950	0.22121	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	4.43	0.696	0.18075	NACHT nucleoside triphosphatase (1);	0.832776	0.10064	N	0.720507	T	0.68751	0.3035	N	0.02802	-0.49	0.58432	D	0.999996	B;B;B;B	0.12013	0.005;0.001;0.001;0.001	B;B;B;B	0.08055	0.003;0.002;0.002;0.002	T	0.54423	-0.8296	10	0.22109	T	0.4	.	9.2723	0.37679	0.0:0.2867:0.5665:0.1468	.	505;505;505;505	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	505	ENSP00000319377:N505K;ENSP00000438030:N505K;ENSP00000340473:N505K;ENSP00000346231:N505K;ENSP00000375655:N505K;ENSP00000375653:N505K;ENSP00000375652:N505K	ENSP00000319377:N505K	N	-	3	2	NLRP12	59005210	0.001000	0.12720	0.421000	0.26609	0.833000	0.47200	1.098000	0.31000	0.407000	0.25591	0.485000	0.47835	AAC		NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000134340.1	NM_144687	
PEG3	5178	hgsc.bcm.edu	37	19	57325595	57325595	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr19:57325595T>G	ENST00000326441.9	-	10	4578	c.4215A>C	c.(4213-4215)gaA>gaC	p.E1405D	PEG3_ENST00000593695.1_Missense_Mutation_p.E1279D|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E1281D|PEG3_ENST00000423103.2_Missense_Mutation_p.E1405D|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1405	3 X 7 AA repeat of P-E-V-E-A-A-E.|Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGCCTCCACTTCTGGCTCGG	0.572																																																	0			19											44.0	47.0	46.0					19																	57325595		2180	4254	6434	62017407	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4215A>C	19.37:g.57325595T>G	ENSP00000326581:p.Glu1405Asp	Somatic		Capture	Illumina HiSeq	Phase_I	62017407	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454787	0.43634	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02737	4.18;4.18	3.93	-7.13	0.01532	.	0.000000	0.41823	D	0.000806	T	0.01800	0.0057	L	0.29908	0.895	.	.	.	P;P;P	0.47762	0.9;0.9;0.9	B;B;B	0.42112	0.376;0.376;0.376	T	0.19160	-1.0314	9	0.56958	D	0.05	-16.9672	4.9568	0.14046	0.129:0.5741:0.1304:0.1665	.	1281;1405;1340	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	D	1405	ENSP00000326581:E1405D;ENSP00000403051:E1405D	ENSP00000326581:E1405D	E	-	3	2	ZIM2	62017407	0.000000	0.05858	0.018000	0.16275	0.428000	0.31595	-2.927000	0.00690	-1.613000	0.01577	-0.326000	0.08463	GAA		PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
CSMD1	64478	hgsc.bcm.edu	37	8	2964063	2964063	+	Silent	SNP	G	G	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr8:2964063G>C	ENST00000520002.1	-	47	7494	c.6939C>G	c.(6937-6939)ctC>ctG	p.L2313L	CSMD1_ENST00000400186.3_Silent_p.L2313L|CSMD1_ENST00000602723.1_Silent_p.L2313L|CSMD1_ENST00000542608.1_Silent_p.L2312L|CSMD1_ENST00000602557.1_Silent_p.L2313L|CSMD1_ENST00000537824.1_Silent_p.L2312L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2313	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACATGTTGGGAGAGAACCCT	0.428																																																	0			8											58.0	56.0	57.0					8																	2964063		1904	4135	6039	2951470	SO:0001819	synonymous_variant	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6939C>G	8.37:g.2964063G>C		Somatic		Capture	Illumina HiSeq	Phase_I	2951470	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	0.011	-1.721894	0.00700	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.31	0.182	0.15077	.	.	.	.	.	T	0.41396	0.1157	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21655	-1.0239	4	.	.	.	.	1.0933	0.01668	0.3438:0.2449:0.2792:0.1321	.	.	.	.	A	1793	.	.	P	-	1	0	CSMD1	2951470	0.643000	0.27269	0.003000	0.11579	0.002000	0.02628	-0.224000	0.09164	-0.280000	0.09154	-0.259000	0.10710	CCC		CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
PRSS55	203074	hgsc.bcm.edu	37	8	10396009	10396009	+	Silent	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr8:10396009C>A	ENST00000328655.3	+	5	805	c.765C>A	c.(763-765)gtC>gtA	p.V255V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Intron	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	255	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGCCTCTGGTCTGCACCCCAG	0.587																																																	0			8											58.0	64.0	62.0					8																	10396009		2203	4300	6503	10433419	SO:0001819	synonymous_variant	0			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.765C>A	8.37:g.10396009C>A		Somatic		Capture	Illumina HiSeq	Phase_I	10433419	E5RJX5	Silent	SNP	ENST00000328655.3	37	CCDS5976.1																																																																																				PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464	
ADAM28	10863	hgsc.bcm.edu	37	8	24192996	24192996	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr8:24192996A>G	ENST00000265769.4	+	14	1519	c.1409A>G	c.(1408-1410)gAt>gGt	p.D470G	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.D470G|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.D217G|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.D237G|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	470	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCAGCAAAAGATGAGTGCGAC	0.433																																					NSCLC(193;488 2149 22258 34798 40734)												0			8											134.0	125.0	128.0					8																	24192996		2203	4300	6503	24248941	SO:0001583	missense	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1409A>G	8.37:g.24192996A>G	ENSP00000265769:p.Asp470Gly	Somatic		Capture	Illumina HiSeq	Phase_I	24248941	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884561	0.51908	.	.	ENSG00000042980	ENST00000265769;ENST00000397649;ENST00000540823;ENST00000437154	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.8	5.8	0.92144	Blood coagulation inhibitor, Disintegrin (5);	.	.	.	.	T	0.14527	0.0351	N	0.13299	0.325	0.50467	D	0.999872	P;P;P;P	0.52170	0.868;0.951;0.951;0.913	P;P;P;P	0.59012	0.85;0.665;0.665;0.767	T	0.24835	-1.0149	9	0.27082	T	0.32	.	14.0996	0.65046	1.0:0.0:0.0:0.0	.	237;470;470;470	B4DDY3;B2RMV5;Q9UKQ2;Q9UKQ2-2	.;.;ADA28_HUMAN;.	G	470;217;237;470	ENSP00000265769:D470G;ENSP00000380770:D217G;ENSP00000443743:D237G;ENSP00000393699:D470G	ENSP00000265769:D470G	D	+	2	0	ADAM28	24248941	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.162000	0.71874	2.213000	0.71641	0.528000	0.53228	GAT		ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ADRB3	155	hgsc.bcm.edu	37	8	37823677	37823677	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr8:37823677G>A	ENST00000345060.3	-	1	806	c.311C>T	c.(310-312)cCg>cTg	p.P104L	ADRB3_ENST00000520341.1_5'Flank	NM_000025.2	NP_000016.1	P13945	ADRB3_HUMAN	adrenoceptor beta 3	104					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|aging (GO:0007568)|brown fat cell differentiation (GO:0050873)|carbohydrate metabolic process (GO:0005975)|diet induced thermogenesis (GO:0002024)|eating behavior (GO:0042755)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|generation of precursor metabolites and energy (GO:0006091)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of MAPK cascade (GO:0043410)|response to antibiotic (GO:0046677)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta-adrenergic receptor activity (GO:0004939)|beta3-adrenergic receptor activity (GO:0015052)|epinephrine binding (GO:0051379)|norepinephrine binding (GO:0051380)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)	9	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)		Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Bethanidine(DB00217)|Bopindolol(DB08807)|Bupranolol(DB08808)|Clenbuterol(DB01407)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Isoprenaline(DB01064)|Mephentermine(DB01365)|Mirabegron(DB08893)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Propranolol(DB00571)|Trimipramine(DB00726)	GGCGCCCAACGGCCAGTGGCC	0.682																																																	0			8											15.0	17.0	16.0					8																	37823677		2150	4234	6384	37942834	SO:0001583	missense	155			AY487247	CCDS6099.1	8p12	2012-08-08	2012-05-09			ENSG00000188778		"""GPCR / Class A : Adrenoceptors : beta"""	288	protein-coding gene	gene with protein product		109691	"""adrenergic, beta-3-, receptor"""			7898940, 15123695	Standard	NM_000025		Approved		uc003xkr.2	P13945		ENST00000345060.3:c.311C>T	8.37:g.37823677G>A	ENSP00000343782:p.Pro104Leu	Somatic		Capture	Illumina HiSeq	Phase_I	37942834	Q4JFT4	Missense_Mutation	SNP	ENST00000345060.3	37	CCDS6099.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087481	0.36855	.	.	ENSG00000188778	ENST00000345060	T	0.26067	1.76	4.51	3.63	0.41609	GPCR, rhodopsin-like superfamily (1);	0.294943	0.33290	N	0.005072	T	0.11239	0.0274	N	0.11673	0.155	0.46927	D	0.999252	B	0.31879	0.344	B	0.24155	0.051	T	0.16748	-1.0392	10	0.24483	T	0.36	.	9.0423	0.36325	0.1716:0.0:0.8284:0.0	.	104	P13945	ADRB3_HUMAN	L	104	ENSP00000343782:P104L	ENSP00000343782:P104L	P	-	2	0	ADRB3	37942834	0.933000	0.31639	1.000000	0.80357	0.969000	0.65631	1.004000	0.29822	1.263000	0.44181	0.313000	0.20887	CCG		ADRB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376826.1	NM_000025	
DPYS	1807	hgsc.bcm.edu	37	8	105459697	105459697	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr8:105459697T>C	ENST00000351513.2	-	3	590	c.458A>G	c.(457-459)aAa>aGa	p.K153R		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	153					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTAACACCTTTATCTTGCAC	0.363																																																	0			8											123.0	112.0	115.0					8																	105459697		2203	4300	6503	105528873	SO:0001583	missense	1807			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.458A>G	8.37:g.105459697T>C	ENSP00000276651:p.Lys153Arg	Somatic		Capture	Illumina HiSeq	Phase_I	105528873		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466352	0.43839	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.90197	-2.49;-2.63	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.046077	0.85682	D	0.000000	D	0.87075	0.6087	L	0.42581	1.335	0.44073	D	0.996824	B	0.06786	0.001	B	0.12837	0.008	T	0.82313	-0.0519	10	0.19590	T	0.45	-24.7732	16.5494	0.84464	0.0:0.0:0.0:1.0	.	153	Q14117	DPYS_HUMAN	R	153;100	ENSP00000276651:K153R;ENSP00000430246:K100R	ENSP00000276651:K153R	K	-	2	0	DPYS	105528873	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.942000	0.70203	2.299000	0.77371	0.528000	0.53228	AAA		DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
GLI4	2738	hgsc.bcm.edu	37	8	144351679	144351679	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr8:144351679G>A	ENST00000523522.1	+	1	152	c.113G>A	c.(112-114)gGg>gAg	p.G38E	GLI4_ENST00000521682.1_Missense_Mutation_p.G38E|GLI4_ENST00000344692.3_Missense_Mutation_p.G38E|ZFP41_ENST00000522452.1_Intron|GLI4_ENST00000340042.1_Missense_Mutation_p.G38E|GLI4_ENST00000517468.1_Missense_Mutation_p.G38E			P10075	GLI4_HUMAN	GLI family zinc finger 4	38					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G38V(1)		endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CACCTCCATGGGCATCAACAT	0.647																																																	1	Substitution - Missense(1)	endometrium(1)	8											184.0	172.0	176.0					8																	144351679		2203	4300	6503	144423054	SO:0001583	missense	2738				CCDS6398.1	8q24.3	2013-01-08	2009-03-05		ENSG00000250571	ENSG00000250571		"""Zinc fingers, C2H2-type"""	4320	protein-coding gene	gene with protein product		165280	"""GLI-Kruppel family member GLI4"", ""glioma-associated oncogene family zinc finger 4"""			2850480	Standard	NM_138465		Approved	HKR4, ZNF928	uc003yxx.3	P10075	OTTHUMG00000164952	ENST00000523522.1:c.113G>A	8.37:g.144351679G>A	ENSP00000430987:p.Gly38Glu	Somatic		Capture	Illumina HiSeq	Phase_I	144423054	Q96CK9	Missense_Mutation	SNP	ENST00000523522.1	37	CCDS6398.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686410	0.47991	.	.	ENSG00000250571	ENST00000521682;ENST00000340042;ENST00000344692;ENST00000517468;ENST00000523522;ENST00000520021;ENST00000517530	T;T	0.05513	3.43;3.43	4.39	0.636	0.17729	.	.	.	.	.	T	0.04182	0.0116	L	0.27053	0.805	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.41161	-0.9524	9	0.45353	T	0.12	.	3.0576	0.06189	0.358:0.2214:0.4205:0.0	.	38	P10075	GLI4_HUMAN	E	38;38;38;38;38;38;15	ENSP00000345024:G38E;ENSP00000430987:G38E	ENSP00000345024:G38E	G	+	2	0	GLI4	144423054	0.001000	0.12720	0.001000	0.08648	0.877000	0.50540	0.982000	0.29539	0.272000	0.22027	0.563000	0.77884	GGG		GLI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381128.2		
ADCK5	203054	hgsc.bcm.edu	37	8	145618211	145618211	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr8:145618211C>T	ENST00000308860.6	+	15	1709	c.1665C>T	c.(1663-1665)acC>acT	p.T555T	MIR939_ENST00000401314.1_RNA|CPSF1_ENST00000531727.1_5'Flank	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	555						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCGGCTGACCGCCCTCCTGG	0.716																																																	0			8											27.0	24.0	25.0					8																	145618211		2181	4291	6472	145589019	SO:0001819	synonymous_variant	203054			BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1665C>T	8.37:g.145618211C>T		Somatic		Capture	Illumina HiSeq	Phase_I	145589019	B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Silent	SNP	ENST00000308860.6	37	CCDS34965.1																																																																																				ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	
USP24	23358	hgsc.bcm.edu	37	1	55612633	55612633	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:55612633G>A	ENST00000294383.6	-	19	2218	c.2219C>T	c.(2218-2220)aCt>aTt	p.T740I	USP24_ENST00000407756.1_Missense_Mutation_p.T580I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	740					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ATCCTGGCCAGTTACAAGACA	0.388																																																	0			1											116.0	111.0	113.0					1																	55612633		1862	4105	5967	55385221	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2219C>T	1.37:g.55612633G>A	ENSP00000294383:p.Thr740Ile	Somatic		Capture	Illumina HiSeq	Phase_I	55385221	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854533	0.71719	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02258	4.37;4.37	5.71	5.71	0.89125	.	0.061993	0.64402	D	0.000004	T	0.02970	0.0088	L	0.29908	0.895	0.49299	D	0.999774	B	0.30482	0.281	B	0.26969	0.075	T	0.60161	-0.7317	10	0.39692	T	0.17	.	19.8535	0.96748	0.0:0.0:1.0:0.0	.	580	B7WPF4	.	I	740;580	ENSP00000294383:T740I;ENSP00000385700:T580I	ENSP00000294383:T740I	T	-	2	0	USP24	55385221	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.686000	0.91538	0.585000	0.79938	ACT		USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2		
FGGY	55277	hgsc.bcm.edu	37	1	59812054	59812054	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:59812054T>G	ENST00000303721.7	+	4	623	c.449T>G	c.(448-450)cTt>cGt	p.L150R	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000371218.4_Missense_Mutation_p.L150R|FGGY_ENST00000474476.1_3'UTR	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	150					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCCCCGAAACTTCTGTGGCTG	0.512																																																	0			1											116.0	89.0	98.0					1																	59812054		2203	4300	6503	59584642	SO:0001583	missense	55277				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.449T>G	1.37:g.59812054T>G	ENSP00000305922:p.Leu150Arg	Somatic		Capture	Illumina HiSeq	Phase_I	59584642	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321772	0.81580	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721	T;T;T	0.61742	0.08;0.08;0.08	5.5	5.5	0.81552	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.82504	0.5051	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.87522	0.2447	9	.	.	.	-14.8172	15.4464	0.75235	0.0:0.0:0.0:1.0	.	150;150;150	Q96C11-3;F2Z2V1;Q96C11	.;.;FGGY_HUMAN	R	150	ENSP00000406607:L150R;ENSP00000360262:L150R;ENSP00000305922:L150R	.	L	+	2	0	FGGY	59584642	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.979000	0.76154	2.308000	0.77769	0.533000	0.62120	CTT		FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	
NEXN	91624	hgsc.bcm.edu	37	1	78383900	78383900	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:78383900A>G	ENST00000334785.7	+	5	573	c.389A>G	c.(388-390)gAg>gGg	p.E130G	NEXN_ENST00000294624.8_Missense_Mutation_p.E130G|NEXN_ENST00000457030.1_Missense_Mutation_p.E130G|NEXN_ENST00000330010.8_Missense_Mutation_p.E66G	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CGCAGAATTGAGCAGGATATG	0.378																																																	0			1											130.0	127.0	128.0					1																	78383900		1908	4116	6024	78156488	SO:0001583	missense	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.389A>G	1.37:g.78383900A>G	ENSP00000333938:p.Glu130Gly	Somatic		Capture	Illumina HiSeq	Phase_I	78156488		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.26|19.26	3.792549|3.792549	0.70452|0.70452	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T;T|.	0.70631|.	-0.46;0.04;-0.28;-0.5;-0.0;-0.3|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.53938|.	D|.	0.000060|.	T|T	0.68467|0.68467	0.3004|0.3004	M|M	0.73962|0.73962	2.25|2.25	0.43255|0.43255	D|D	0.995187|0.995187	P;P;P;P|.	0.50819|.	0.807;0.939;0.899;0.594|.	B;P;B;B|.	0.45610|.	0.231;0.487;0.421;0.231|.	T|T	0.69580|0.69580	-0.5107|-0.5107	10|5	0.62326|.	D|.	0.03|.	-16.3273|-16.3273	15.5278|15.5278	0.75925|0.75925	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	66;130;130;66|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	G|G	66;130;66;130;130;130|30	ENSP00000383814:E66G;ENSP00000388048:E130G;ENSP00000327363:E66G;ENSP00000294624:E130G;ENSP00000333938:E130G;ENSP00000411902:E130G|.	ENSP00000294624:E130G|.	E|S	+|+	2|1	0|0	NEXN|NEXN	78156488|78156488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	5.907000|5.907000	0.69908|0.69908	2.320000|2.320000	0.78422|0.78422	0.528000|0.528000	0.53228|0.53228	GAG|AGC		NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
PTGFR	5737	hgsc.bcm.edu	37	1	78958857	78958857	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:78958857T>C	ENST00000370757.3	+	2	666	c.429T>C	c.(427-429)caT>caC	p.H143H	PTGFR_ENST00000370758.1_Silent_p.H143H|PTGFR_ENST00000370756.3_Silent_p.H143H	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	143					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	CAATATTTCATTCTACGAAAA	0.418																																																	0			1											163.0	157.0	159.0					1																	78958857		2203	4300	6503	78731445	SO:0001819	synonymous_variant	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.429T>C	1.37:g.78958857T>C		Somatic		Capture	Illumina HiSeq	Phase_I	78731445	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Silent	SNP	ENST00000370757.3	37	CCDS686.1																																																																																				PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959	
NBPF10	100132406	hgsc.bcm.edu	37	1	145323656	145323656	+	Missense_Mutation	SNP	A	A	T	rs75252120	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:145323656A>T	ENST00000342960.5	+	27	3528	c.3493A>T	c.(3493-3495)Att>Ttt	p.I1165F	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	752						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.I1165F(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TATTGCAGGAATTAAAAAGGA	0.473																																																	3	Substitution - Missense(3)	endometrium(2)|kidney(1)	1																																								144035013	SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3493A>T	1.37:g.145323656A>T	ENSP00000345684:p.Ile1165Phe	Somatic		Capture	Illumina HiSeq	Phase_I	144035013	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	7.524	0.657305	0.14580	.	.	ENSG00000163386	ENST00000342960	T	0.03441	3.93	.	.	.	.	.	.	.	.	T	0.02342	0.0072	M	0.67953	2.075	0.09310	N	1	.	.	.	.	.	.	T	0.44065	-0.9352	5	0.28530	T	0.3	.	.	.	.	.	.	.	.	F	1165	ENSP00000345684:I1165F	ENSP00000345684:I1165F	I	+	1	0	NBPF10	144035013	0.353000	0.24904	0.005000	0.12908	0.123000	0.20343	1.122000	0.31295	0.386000	0.24997	0.128000	0.15822	ATT		NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
RORC	6097	hgsc.bcm.edu	37	1	151789209	151789209	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:151789209G>A	ENST00000318247.6	-	4	336	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	RORC_ENST00000392697.3_Missense_Mutation_p.R131C|RORC_ENST00000356728.6_Missense_Mutation_p.R56C|RORC_ENST00000480719.1_5'Flank	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	77					adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CGGCTGGTGCGGTCGATGGGG	0.652																																																	0			1											34.0	28.0	30.0					1																	151789209		2201	4300	6501	150055833	SO:0001583	missense	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.229C>T	1.37:g.151789209G>A	ENSP00000327025:p.Arg77Cys	Somatic		Capture	Illumina HiSeq	Phase_I	150055833	Q5SZR9|Q8N5V7|Q8NCY8	Missense_Mutation	SNP	ENST00000318247.6	37	CCDS1004.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429552	0.83776	.	.	ENSG00000143365	ENST00000356728;ENST00000392697;ENST00000318247	D;D;D	0.97665	-4.48;-4.48;-4.48	5.24	5.24	0.73138	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (3);	0.000000	0.64402	U	0.000008	D	0.98308	0.9439	M	0.89353	3.025	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.983;0.999;1.0;1.0	D	0.99153	1.0859	10	0.87932	D	0	.	11.4353	0.50064	0.0:0.0:0.8198:0.1802	.	77;131;77;56	B6ZGS6;B4DPR1;P51449;F1D8P6	.;.;RORG_HUMAN;.	C	56;131;77	ENSP00000349164:R56C;ENSP00000376461:R131C;ENSP00000327025:R77C	ENSP00000327025:R77C	R	-	1	0	RORC	150055833	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.480000	0.66820	2.436000	0.82500	0.563000	0.77884	CGC		RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036626.1		
FLG	2312	hgsc.bcm.edu	37	1	152277299	152277299	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:152277299C>G	ENST00000368799.1	-	3	10098	c.10063G>C	c.(10063-10065)Gtg>Ctg	p.V3355L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3355	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCTGACACTGACTGTGTG	0.567									Ichthyosis																																								0			1											355.0	358.0	357.0					1																	152277299		2203	4300	6503	150543923	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10063G>C	1.37:g.152277299C>G	ENSP00000357789:p.Val3355Leu	Somatic		Capture	Illumina HiSeq	Phase_I	150543923	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835906	0.32421	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.00801	5.68	3.92	0.711	0.18162	.	.	.	.	.	T	0.00637	0.0021	M	0.79805	2.47	0.09310	N	1	B	0.30146	0.27	B	0.32533	0.147	T	0.37526	-0.9702	9	0.41790	T	0.15	0.1891	7.0783	0.25217	0.1818:0.4831:0.3351:0.0	.	3355	P20930	FILA_HUMAN	L	3355;293	ENSP00000357789:V3355L	ENSP00000357786:V293L	V	-	1	0	FLG	150543923	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.105000	0.10907	0.048000	0.15891	0.454000	0.30748	GTG		FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
INSRR	3645	hgsc.bcm.edu	37	1	156823762	156823762	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:156823762C>T	ENST00000368195.3	-	2	815	c.419G>A	c.(418-420)cGt>cAt	p.R140H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	140					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTTCTCCACACGCACAGCCCC	0.627																																																	0			1											60.0	54.0	56.0					1																	156823762		2203	4300	6503	155090386	SO:0001583	missense	3645			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.419G>A	1.37:g.156823762C>T	ENSP00000357178:p.Arg140His	Somatic		Capture	Illumina HiSeq	Phase_I	155090386	O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919867	0.92249	.	.	ENSG00000027644	ENST00000368195	T	0.80123	-1.34	5.06	5.06	0.68205	EGF receptor, L domain (1);	0.000000	0.48767	D	0.000164	D	0.88362	0.6416	.	.	.	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.89995	0.4110	9	0.87932	D	0	.	15.916	0.79517	0.0:1.0:0.0:0.0	.	140	P14616	INSRR_HUMAN	H	140	ENSP00000357178:R140H	ENSP00000357178:R140H	R	-	2	0	INSRR	155090386	1.000000	0.71417	0.949000	0.38748	0.989000	0.77384	7.811000	0.86092	2.367000	0.80283	0.557000	0.71058	CGT		INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
CD1A	909	hgsc.bcm.edu	37	1	158226761	158226761	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:158226761G>A	ENST00000289429.5	+	4	1323	c.790G>A	c.(790-792)Gca>Aca	p.A264T		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	264	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.A264T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTATCTCCGCGCAACCCTGGA	0.627																																																	1	Substitution - Missense(1)	large_intestine(1)	1											91.0	84.0	87.0					1																	158226761		2203	4300	6503	156493385	SO:0001583	missense	913			M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.790G>A	1.37:g.158226761G>A	ENSP00000289429:p.Ala264Thr	Somatic		Capture	Illumina HiSeq	Phase_I	156493385	D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Missense_Mutation	SNP	ENST00000289429.5	37	CCDS1174.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.349793	0.41599	.	.	ENSG00000158477	ENST00000289429	T	0.02863	4.13	3.84	0.883	0.19177	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	1.471120	0.04702	N	0.416033	T	0.03348	0.0097	M	0.65498	2.005	0.09310	N	1	D	0.54964	0.969	P	0.54238	0.746	T	0.35847	-0.9772	10	0.59425	D	0.04	-0.5712	6.7352	0.23405	0.2614:0.0:0.7386:0.0	.	264	P06126	CD1A_HUMAN	T	264	ENSP00000289429:A264T	ENSP00000289429:A264T	A	+	1	0	CD1A	156493385	0.000000	0.05858	0.000000	0.03702	0.265000	0.26407	-0.065000	0.11617	0.080000	0.16959	0.491000	0.48974	GCA		CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763	
DPT	1805	hgsc.bcm.edu	37	1	168683528	168683529	+	Missense_Mutation	DNP	TC	TC	AA	rs143369045	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T|C	T|C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:168683528_168683529TC>AA	ENST00000367817.3	-	2	450_451	c.361_362GA>TT	c.(361-363)GAg>TTg	p.E121L		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	121	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E121Q(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CAGCACTGACTCGAAGTAGCGG	0.540																																																	1	Substitution - Missense(1)	ovary(1)	1																																								166950152|166950153	SO:0001583	missense	1805			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.361_362delinsAA	1.37:g.168683528_168683529delinsAA	ENSP00000356791:p.Glu121Leu	Somatic		Capture	Illumina HiSeq	Phase_I	166950152|166950153	A8K981|Q8N4R2|Q9UIX8	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000367817.3	37	CCDS1275.1																																																																																				DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937	
SLC9C2	284525	hgsc.bcm.edu	37	1	173545824	173545824	+	Missense_Mutation	SNP	G	G	T	rs540891244		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:173545824G>T	ENST00000367714.3	-	8	1300	c.878C>A	c.(877-879)cCg>cAg	p.P293Q	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.P191Q|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	293					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TTCGATCTTCGGTTTAAAAGT	0.398																																																	0			1											75.0	74.0	74.0					1																	173545824		2203	4300	6503	171812447	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.878C>A	1.37:g.173545824G>T	ENSP00000356687:p.Pro293Gln	Somatic		Capture	Illumina HiSeq	Phase_I	171812447	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986817	0.53934	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.19669	2.13;2.13	5.48	5.48	0.80851	Cation/H+ exchanger (1);	0.112631	0.39985	N	0.001220	T	0.32466	0.0830	M	0.63843	1.955	0.29726	N	0.838259	D	0.76494	0.999	D	0.76071	0.987	T	0.07121	-1.0789	10	0.54805	T	0.06	-7.2997	14.8871	0.70579	0.0:0.0:1.0:0.0	.	293	Q5TAH2	S9A11_HUMAN	Q	293;191	ENSP00000356687:P293Q;ENSP00000445437:P191Q	ENSP00000356687:P293Q	P	-	2	0	SLC9A11	171812447	0.998000	0.40836	0.932000	0.37286	0.323000	0.28346	4.334000	0.59291	2.572000	0.86782	0.655000	0.94253	CCG		SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
CENPF	1063	hgsc.bcm.edu	37	1	214795474	214795474	+	Silent	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:214795474A>G	ENST00000366955.3	+	7	1086	c.918A>G	c.(916-918)aaA>aaG	p.K306K		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.K306K(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GACATGAAAAAGAAATGAAAG	0.343																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - coding silent(1)	ovary(1)	1											102.0	106.0	105.0					1																	214795474		2203	4300	6503	212862097	SO:0001819	synonymous_variant	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.918A>G	1.37:g.214795474A>G		Somatic		Capture	Illumina HiSeq	Phase_I	212862097	Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	CCDS31023.1																																																																																				CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
OBSCN	84033	hgsc.bcm.edu	37	1	228526606	228526606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:228526606C>T	ENST00000422127.1	+	69	17181	c.17137C>T	c.(17137-17139)Cag>Tag	p.Q5713*	OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q3347*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q6670*|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.Q2832*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q5713*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5713	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.Q6295*(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGAGCTGCAGTTCCTGCA	0.652																																																	1	Substitution - Nonsense(1)	breast(1)	1											14.0	17.0	16.0					1																	228526606		1973	4029	6002	226593229	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17137C>T	1.37:g.228526606C>T	ENSP00000409493:p.Gln5713*	Somatic		Capture	Illumina HiSeq	Phase_I	226593229	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	81.266435|81.266435	0.99994|0.99994	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	.|.	.|.	.|.	4.97|4.97	3.99|3.99	0.46301|0.46301	.|.	.|0.469539	.|0.21692	.|N	.|0.070550	T|.	0.74291|.	0.3697|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.81152|.	-0.1063|.	3|.	.|0.66056	.|D	.|0.02	.|.	15.9294|15.9294	0.79648|0.79648	0.144:0.856:0.0:0.0|0.144:0.856:0.0:0.0	.|.	.|.	.|.	.|.	V|X	328|5713;5713;3347;2832	.|.	.|ENSP00000284548:Q5713X	A|Q	+|+	2|1	0|0	OBSCN|OBSCN	226593229|226593229	0.992000|0.992000	0.36948|0.36948	1.000000|1.000000	0.80357|0.80357	0.963000|0.963000	0.63663|0.63663	0.640000|0.640000	0.24705|0.24705	2.597000|2.597000	0.87782|0.87782	0.491000|0.491000	0.48974|0.48974	GCA|CAG		OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
TRIM67	440730	hgsc.bcm.edu	37	1	231342439	231342439	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:231342439T>C	ENST00000366653.5	+	7	1722	c.1722T>C	c.(1720-1722)ggT>ggC	p.G574G	TRIM67_ENST00000449018.3_Silent_p.G512G|TRIM67_ENST00000366652.2_Silent_p.G574G|TRIM67_ENST00000444294.3_Silent_p.G572G			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	574	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				CCATCGACGGTCTTCACTTCA	0.507																																																	0			1											79.0	86.0	84.0					1																	231342439		2069	4223	6292	229409062	SO:0001819	synonymous_variant	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1722T>C	1.37:g.231342439T>C		Somatic		Capture	Illumina HiSeq	Phase_I	229409062	Q5TER7|Q5TER8|Q7Z4K7	Silent	SNP	ENST00000366653.5	37	CCDS44333.1																																																																																				TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3	NM_001004342	
ACTN2	88	hgsc.bcm.edu	37	1	236850015	236850015	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:236850015C>G	ENST00000366578.4	+	1	208	c.42C>G	c.(40-42)taC>taG	p.Y14*	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Y14*	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	14	Actin-binding.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACTACGTGTACGACGAGGATG	0.672																																																	0			1											57.0	51.0	53.0					1																	236850015		2203	4300	6503	234916638	SO:0001587	stop_gained	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.42C>G	1.37:g.236850015C>G	ENSP00000355537:p.Tyr14*	Somatic		Capture	Illumina HiSeq	Phase_I	234916638	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	39	7.600613	0.98384	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	.	.	.	3.74	2.77	0.32553	.	0.615537	0.16663	N	0.204709	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.7388	0.28829	0.0:0.7504:0.0:0.2496	.	.	.	.	X	14	.	ENSP00000355537:Y14X	Y	+	3	2	ACTN2	234916638	0.662000	0.27439	0.991000	0.47740	0.984000	0.73092	-0.254000	0.08781	0.687000	0.31509	0.407000	0.27541	TAC		ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
MUC5B	727897	hgsc.bcm.edu	37	11	1261118	1261118	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:1261118G>A	ENST00000529681.1	+	28	3731	c.3673G>A	c.(3673-3675)Gga>Aga	p.G1225R	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G1228R	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1225	Cys-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.G1228R(1)|p.G1225R(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGACAAGGACGGAAACTACTA	0.652																																																	2	Substitution - Missense(2)	endometrium(2)	11											32.0	33.0	33.0					11																	1261118		2044	4187	6231	1217694	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.3673G>A	11.37:g.1261118G>A	ENSP00000436812:p.Gly1225Arg	Somatic		Capture	Illumina HiSeq	Phase_I	1217694	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639688	0.29157	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20332	2.08;2.25	4.36	2.41	0.29592	.	.	.	.	.	T	0.34308	0.0893	M	0.84082	2.675	0.09310	N	1	D;D	0.57899	0.981;0.981	P;P	0.48270	0.474;0.572	T	0.21861	-1.0233	9	0.87932	D	0	.	10.5492	0.45079	0.1615:0.0:0.8385:0.0	.	1918;1228	A7Y9J9;E9PBJ0	.;.	R	1225;1228;1226;1295	ENSP00000436812:G1225R;ENSP00000415793:G1228R	ENSP00000343037:G1226R	G	+	1	0	MUC5B	1217694	1.000000	0.71417	0.005000	0.12908	0.016000	0.09150	6.351000	0.73022	0.835000	0.34877	0.442000	0.29010	GGA		MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR52I2	143502	hgsc.bcm.edu	37	11	4608250	4608250	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:4608250T>G	ENST00000312614.4	+	1	230	c.208T>G	c.(208-210)Tta>Gta	p.L70V		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	70						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATAGCCCTGTTAGGAAACAC	0.498																																																	0			11											263.0	247.0	252.0					11																	4608250		2201	4298	6499	4564826	SO:0001583	missense	143502			BK004264	CCDS31355.1	11p15.4	2012-08-09			ENSG00000226288	ENSG00000226288		"""GPCR / Class A : Olfactory receptors"""	15221	protein-coding gene	gene with protein product							Standard	NM_001005170		Approved		uc010qyh.2	Q8NH67	OTTHUMG00000165721	ENST00000312614.4:c.208T>G	11.37:g.4608250T>G	ENSP00000308764:p.Leu70Val	Somatic		Capture	Illumina HiSeq	Phase_I	4564826	B2RNJ5|B9EKV8|Q6IFJ8	Missense_Mutation	SNP	ENST00000312614.4	37	CCDS31355.1	.	.	.	.	.	.	.	.	.	.	T	0.027	-1.363268	0.01235	.	.	ENSG00000226288	ENST00000312614	T	0.02656	4.21	4.1	-7.17	0.01511	.	0.735006	0.11170	N	0.592079	T	0.01222	0.0040	N	0.22421	0.69	0.09310	N	1	B	0.24651	0.108	B	0.23275	0.045	T	0.48352	-0.9043	10	0.05436	T	0.98	-0.2694	2.299	0.04157	0.1103:0.234:0.3686:0.2871	.	70	Q8NH67	O52I2_HUMAN	V	70	ENSP00000308764:L70V	ENSP00000308764:L70V	L	+	1	2	OR52I2	4564826	0.000000	0.05858	0.015000	0.15790	0.286000	0.27126	-5.642000	0.00107	-0.935000	0.03728	-0.516000	0.04426	TTA		OR52I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385946.1	NM_001005170	
OR51F2	119694	hgsc.bcm.edu	37	11	4843563	4843563	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:4843563C>T	ENST00000322110.5	+	1	1013	c.948C>T	c.(946-948)gcC>gcT	p.A316A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	316						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAAAAGGCCATTATCAAGG	0.373																																																	0			11											120.0	120.0	120.0					11																	4843563		2201	4298	6499	4800139	SO:0001819	synonymous_variant	119694			BK004281	CCDS31361.1	11p15.4	2012-08-09			ENSG00000176925	ENSG00000176925		"""GPCR / Class A : Olfactory receptors"""	15197	protein-coding gene	gene with protein product							Standard	NM_001004753		Approved		uc010qyn.2	Q8NH61	OTTHUMG00000066508	ENST00000322110.5:c.948C>T	11.37:g.4843563C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4800139	Q6IFI1	Silent	SNP	ENST00000322110.5	37	CCDS31361.1																																																																																				OR51F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142181.1	NM_001004753	
KIAA1549L	25758	hgsc.bcm.edu	37	11	33689562	33689562	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:33689562G>A	ENST00000321505.4	+	20	5592	c.5412G>A	c.(5410-5412)tcG>tcA	p.S1804S	KIAA1549L_ENST00000389726.3_Silent_p.S1810S|RP4-541C22.5_ENST00000534431.1_RNA			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1804						integral component of membrane (GO:0016021)											CAGCGGCCTCGCAGCAGAGCC	0.677																																																	0			11											40.0	47.0	45.0					11																	33689562		2030	4186	6216	33646138	SO:0001819	synonymous_variant	25758			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.5412G>A	11.37:g.33689562G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33646138	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2																																																																																				KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
OR5D18	219438	hgsc.bcm.edu	37	11	55587289	55587289	+	Missense_Mutation	SNP	T	T	C	rs199935417		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:55587289T>C	ENST00000333976.4	+	1	204	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCCCATGTACTTTTTCCTCAG	0.428																																																	0			11											258.0	237.0	244.0					11																	55587289		2200	4296	6496	55343865	SO:0001583	missense	219438			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.184T>C	11.37:g.55587289T>C	ENSP00000335025:p.Phe62Leu	Somatic		Capture	Illumina HiSeq	Phase_I	55343865	Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	CCDS31510.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	.	14.69	2.611751	0.46631	.	.	ENSG00000186119	ENST00000333976	T	0.00551	6.65	4.94	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001140	T	0.00754	0.0025	M	0.74467	2.265	0.32381	N	0.554556	P	0.35872	0.525	B	0.36418	0.224	T	0.25710	-1.0124	10	0.62326	D	0.03	-37.1952	6.5929	0.22656	0.1543:0.0:0.1609:0.6847	.	62	Q8NGL1	OR5DI_HUMAN	L	62	ENSP00000335025:F62L	ENSP00000335025:F62L	F	+	1	0	OR5D18	55343865	0.330000	0.24705	1.000000	0.80357	0.997000	0.91878	0.677000	0.25262	0.834000	0.34852	0.514000	0.50259	TTT		OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952	
STX5	6811	hgsc.bcm.edu	37	11	62595063	62595063	+	Missense_Mutation	SNP	C	C	T	rs542193132		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:62595063C>T	ENST00000294179.3	-	3	419	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	STX5_ENST00000541317.1_5'UTR|STX5_ENST00000377897.4_Missense_Mutation_p.R89Q|STX5_ENST00000394690.1_Missense_Mutation_p.R35Q	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	89					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)	p.R89Q(1)		breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						ACTGCGTTGTCGGACAGCACG	0.483																																																	1	Substitution - Missense(1)	endometrium(1)	11											133.0	120.0	125.0					11																	62595063		2201	4299	6500	62351639	SO:0001583	missense	6811			U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.266G>A	11.37:g.62595063C>T	ENSP00000294179:p.Arg89Gln	Somatic		Capture	Illumina HiSeq	Phase_I	62351639	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	C	13.47	2.245997	0.39697	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690	T;T;T	0.41065	1.57;1.57;1.01	5.37	5.37	0.77165	t-SNARE (1);	0.168259	0.44902	D	0.000401	T	0.18509	0.0444	N	0.08118	0	0.80722	D	1	B;B	0.24618	0.039;0.107	B;B	0.12837	0.008;0.004	T	0.12734	-1.0536	10	0.05959	T	0.93	-4.9805	10.1035	0.42519	0.0:0.9093:0.0:0.0907	.	89;89	F8W8Q9;Q13190	.;STX5_HUMAN	Q	89;89;35	ENSP00000367129:R89Q;ENSP00000294179:R89Q;ENSP00000378182:R35Q	ENSP00000294179:R89Q	R	-	2	0	STX5	62351639	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.704000	0.37857	2.524000	0.85096	0.655000	0.94253	CGA		STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290113.1	NM_003164	
RELA	5970	hgsc.bcm.edu	37	11	65427176	65427176	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:65427176G>A	ENST00000406246.3	-	6	781	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	RELA_ENST00000525693.1_Missense_Mutation_p.R174C|RELA_ENST00000308639.9_Missense_Mutation_p.R171C	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	174	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|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)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGCGGCAGGCGGAGGGGCCTG	0.602																																																	0			11											56.0	60.0	58.0					11																	65427176		2201	4296	6497	65183752	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.520C>T	11.37:g.65427176G>A	ENSP00000384273:p.Arg174Cys	Somatic		Capture	Illumina HiSeq	Phase_I	65183752	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	CCDS31609.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.724104|2.724104	0.48728|0.48728	.|.	.|.	ENSG00000173039|ENSG00000173039	ENST00000532879|ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749	.|T;T;T;T;T;T	.|0.45668	.|0.89;0.89;0.89;0.89;0.89;0.89	4.71|4.71	3.77|3.77	0.43336|0.43336	.|Rel homology (3);p53-like transcription factor, DNA-binding (1);	.|0.455930	.|0.21823	.|N	.|0.068595	T|T	0.25827|0.25827	0.0629|0.0629	N|N	0.20986|0.20986	0.625|0.625	0.40244|0.40244	D|D	0.977997|0.977997	.|P;P;D;P;D;P	.|0.56521	.|0.818;0.742;0.976;0.75;0.963;0.633	.|B;B;B;B;B;B	.|0.37692	.|0.063;0.228;0.192;0.256;0.203;0.068	T|T	0.11446|0.11446	-1.0587|-1.0587	6|10	0.72032|0.44086	D|T	0.01|0.13	-9.0333|-9.0333	12.0832|12.0832	0.53682|0.53682	0.0:0.2216:0.7784:0.0|0.0:0.2216:0.7784:0.0	.|.	.|174;161;171;174;185;174	.|Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.|.;.;.;TF65_HUMAN;.;.	L|C	154|174;174;171;174;185;185;165;143	.|ENSP00000384273:R174C;ENSP00000432537:R174C;ENSP00000311508:R171C;ENSP00000433526:R185C;ENSP00000434372:R165C;ENSP00000436545:R143C	ENSP00000432922:P124L|ENSP00000311508:R171C	P|R	-|-	2|1	0|0	RELA|RELA	65183752|65183752	0.966000|0.966000	0.33281|0.33281	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	1.863000|1.863000	0.39459|0.39459	2.163000|2.163000	0.67991|0.67991	0.455000|0.455000	0.32223|0.32223	CCG|CGC		RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975	
ATM	472	hgsc.bcm.edu	37	11	108098353	108098353	+	Start_Codon_SNP	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:108098353T>C	ENST00000452508.2	+	3	191	c.2T>C	c.(1-3)aTg>aCg	p.M1T	Y_RNA_ENST00000384240.1_RNA|ATM_ENST00000278616.4_Start_Codon_SNP_p.M1T			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGTGAACCATGAGTCTAGTA	0.313			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11	GRCh37	CM960095	ATM	M							134.0	131.0	132.0					11																	108098353		2201	4297	6498	107603563	SO:0001582	initiator_codon_variant	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.2T>C	11.37:g.108098353T>C	ENSP00000388058:p.Met1Thr	Somatic		Capture	Illumina HiSeq	Phase_I	107603563	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	19.52	3.843051	0.71488	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000527891;ENST00000532931;ENST00000452508	T;T;T;T;T	0.39406	3.99;4.45;1.53;1.08;4.45	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	.	.	.	0.80722	D	1	P;P	0.52842	0.956;0.872	P;B	0.47528	0.549;0.396	T	0.56335	-0.7996	9	0.87932	D	0	.	15.1482	0.72674	0.0:0.0:0.0:1.0	.	1;1	Q6P7P1;Q13315	.;ATM_HUMAN	T	1	ENSP00000435747:M1T;ENSP00000278616:M1T;ENSP00000433955:M1T;ENSP00000432318:M1T;ENSP00000388058:M1T	ENSP00000278616:M1T	M	+	2	0	ATM	107603563	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.193000	0.65120	2.042000	0.60477	0.460000	0.39030	ATG		ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Missense_Mutation
OPCML	4978	hgsc.bcm.edu	37	11	132527052	132527052	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:132527052T>G	ENST00000331898.7	-	2	908	c.330A>C	c.(328-330)gaA>gaC	p.E110D	OPCML_ENST00000541867.1_Missense_Mutation_p.E110D|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Missense_Mutation_p.E103D|OPCML_ENST00000374778.4_Missense_Mutation_p.E69D	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	110	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGTACGGACCTTCGTCATACA	0.502																																																	0			11											255.0	198.0	218.0					11																	132527052		2201	4297	6498	132032262	SO:0001583	missense	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.330A>C	11.37:g.132527052T>G	ENSP00000330862:p.Glu110Asp	Somatic		Capture	Illumina HiSeq	Phase_I	132032262	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145134	0.77888	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.83	-2.65	0.06095	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	M	0.72576	2.205	0.49213	D	0.999763	D;D;D;D	0.58620	0.983;0.983;0.983;0.983	P;P;P;P	0.59948	0.866;0.866;0.866;0.866	T	0.45963	-0.9225	10	0.34782	T	0.22	-18.1468	13.2901	0.60267	0.0:0.5498:0.0:0.4502	.	110;103;110;110	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	D	110;103;69;77;110	ENSP00000330862:E110D;ENSP00000434750:E103D;ENSP00000363910:E69D;ENSP00000445496:E110D	ENSP00000330862:E110D	E	-	3	2	OPCML	132032262	0.996000	0.38824	0.965000	0.40720	0.941000	0.58515	0.439000	0.21575	-0.236000	0.09753	0.533000	0.62120	GAA		OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
HUS1B	135458	hgsc.bcm.edu	37	6	656918	656918	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:656918G>A	ENST00000380907.2	-	1	45	c.27C>T	c.(25-27)ggC>ggT	p.G9G	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	9					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)	checkpoint clamp complex (GO:0030896)|nucleolus (GO:0005730)				endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GACAGCCTTTGCCGGTGATCT	0.652																																																	0			6											65.0	62.0	63.0					6																	656918		2198	4287	6485	601918	SO:0001819	synonymous_variant	135458			AF508547	CCDS4470.1	6p25.3	2008-08-08	2001-11-28		ENSG00000188996	ENSG00000188996			16485	protein-coding gene	gene with protein product		609713	"""HUS1 (S. pombe) checkpoint homolog b"""			11944979	Standard	NM_148959		Approved		uc003mtg.3	Q8NHY5	OTTHUMG00000090059	ENST00000380907.2:c.27C>T	6.37:g.656918G>A		Somatic		Capture	Illumina HiSeq	Phase_I	601918	Q5T4Z2	Silent	SNP	ENST00000380907.2	37	CCDS4470.1																																																																																				HUS1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205617.2	NM_148959	
RREB1	6239	hgsc.bcm.edu	37	6	7248754	7248754	+	Silent	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:7248754A>G	ENST00000349384.6	+	12	4931	c.4617A>G	c.(4615-4617)ccA>ccG	p.P1539P	RREB1_ENST00000379933.3_Silent_p.P1539P|RREB1_ENST00000334984.6_Silent_p.P1328P|RREB1_ENST00000379938.2_Silent_p.P1594P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1539					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGAAAGGCCATACAAATGTC	0.542																																																	0			6											69.0	66.0	67.0					6																	7248754		2203	4300	6503	7193753	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4617A>G	6.37:g.7248754A>G		Somatic		Capture	Illumina HiSeq	Phase_I	7193753	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																				RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
HIST1H4I	8294	hgsc.bcm.edu	37	6	27107355	27107355	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:27107355G>A	ENST00000354348.2	+	1	280	c.268G>A	c.(268-270)Gcg>Acg	p.A90T	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	90					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(1)	1						CGTGGTCTACGCGCTCAAGCG	0.592			T	BCL6	NHL																																			Dom	yes		6	6p21.3	8294	"""histone 1, H4i (H4FM)"""		L	0			6											65.0	62.0	63.0					6																	27107355		2203	4300	6503	27215334	SO:0001583	missense	8294			AB000905	CCDS4620.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198339	ENSG00000276180		"""Histones / Replication-dependent"""	4793	protein-coding gene	gene with protein product		602833	"""H4 histone family, member M"", ""histone 1, H4i"""	H4FM		8988030, 9439656, 12408966	Standard	NM_003495		Approved	H4/m	uc003niy.1	P62805	OTTHUMG00000014471	ENST00000354348.2:c.268G>A	6.37:g.27107355G>A	ENSP00000346316:p.Ala90Thr	Somatic		Capture	Illumina HiSeq	Phase_I	27215334	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000354348.2	37	CCDS4620.1	.	.	.	.	.	.	.	.	.	.	.	15.38	2.815543	0.50527	.	.	ENSG00000198339	ENST00000354348	T	0.80033	-1.33	3.8	3.8	0.43715	.	0.000000	0.40302	U	0.001138	D	0.88206	0.6374	M	0.90425	3.115	0.47476	D	0.999432	.	.	.	.	.	.	D	0.90226	0.4275	8	0.62326	D	0.03	.	13.9996	0.64424	0.0:0.0:1.0:0.0	.	.	.	.	T	90	ENSP00000346316:A90T	ENSP00000346316:A90T	A	+	1	0	HIST1H4I	27215334	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	5.891000	0.69782	2.068000	0.61886	0.655000	0.94253	GCG		HIST1H4I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040139.1	NM_003495	
BAI3	577	hgsc.bcm.edu	37	6	70048837	70048837	+	Missense_Mutation	SNP	C	C	T	rs376079687		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:70048837C>T	ENST00000370598.1	+	25	4039	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M	BAI3_ENST00000546190.1_Missense_Mutation_p.T37M|BAI3_ENST00000238918.8_Missense_Mutation_p.T279M	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1073					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AGCGGTTTGACGCTCAAATGT	0.413																																																	0			6						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	224.0	220.0	221.0		3218	6.2	1.0	6		221	0,8600		0,0,4300	no	missense	BAI3	NM_001704.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1073/1523	70048837	1,13005	2203	4300	6503	70105558	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.3218C>T	6.37:g.70048837C>T	ENSP00000359630:p.Thr1073Met	Somatic		Capture	Illumina HiSeq	Phase_I	70105558	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146269	0.77888	2.27E-4	0.0	ENSG00000135298	ENST00000370598;ENST00000238918;ENST00000546190	T;T;T	0.46063	2.0;2.63;0.88	6.16	6.16	0.99307	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.49778	1.585	0.53688	D	0.999976	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.78314	0.98;0.91;0.991	T	0.29731	-1.0002	10	0.33940	T	0.23	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	279;1073;1073	B7Z356;A8K0Y1;O60242	.;.;BAI3_HUMAN	M	1073;279;37	ENSP00000359630:T1073M;ENSP00000238918:T279M;ENSP00000441821:T37M	ENSP00000238918:T279M	T	+	2	0	BAI3	70105558	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.920000	0.70017	2.937000	0.99478	0.650000	0.86243	ACG		BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
FILIP1	27145	hgsc.bcm.edu	37	6	76072581	76072581	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:76072581A>C	ENST00000237172.7	-	3	659	c.329T>G	c.(328-330)gTt>gGt	p.V110G	FILIP1_ENST00000370020.1_Missense_Mutation_p.V11G|RP11-415D17.3_ENST00000415457.2_RNA|RP11-415D17.3_ENST00000609544.1_RNA|RP11-415D17.3_ENST00000591821.2_RNA|RP11-415D17.3_ENST00000440220.1_RNA|RP11-415D17.3_ENST00000419709.1_RNA|RP11-415D17.3_ENST00000588761.1_RNA|FILIP1_ENST00000393004.2_Missense_Mutation_p.V110G	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	110										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGCCTCCAGAACCTCAGGCTT	0.507																																																	0			6											132.0	131.0	131.0					6																	76072581		2203	4300	6503	76129301	SO:0001583	missense	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.329T>G	6.37:g.76072581A>C	ENSP00000237172:p.Val110Gly	Somatic		Capture	Illumina HiSeq	Phase_I	76129301	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.737673	0.30774	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.50548	0.74;0.74;0.74	5.99	2.39	0.29439	Cortactin-binding protein-2, N-terminal (1);	0.311269	0.35870	N	0.002923	T	0.19208	0.0461	L	0.38175	1.15	0.80722	D	1	B;B;B	0.32653	0.379;0.091;0.074	B;B;B	0.31101	0.089;0.124;0.076	T	0.05053	-1.0909	10	0.49607	T	0.09	-7.0988	9.2961	0.37815	0.7983:0.0:0.2017:0.0	.	110;110;110	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	G	110;110;11	ENSP00000376728:V110G;ENSP00000237172:V110G;ENSP00000359037:V11G	ENSP00000237172:V110G	V	-	2	0	FILIP1	76129301	0.999000	0.42202	1.000000	0.80357	0.389000	0.30415	1.513000	0.35823	0.517000	0.28361	0.533000	0.62120	GTT		FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
MCHR2	84539	hgsc.bcm.edu	37	6	100403984	100403984	+	Missense_Mutation	SNP	C	C	T	rs142259467		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:100403984C>T	ENST00000281806.2	-	2	354	c.40G>A	c.(40-42)Gaa>Aaa	p.E14K	MCHR2_ENST00000369212.2_Missense_Mutation_p.E14K	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E14K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTTAAAAGTTCGGCAGAGGTG	0.388																																																	2	Substitution - Missense(2)	large_intestine(1)|skin(1)	6											144.0	145.0	145.0					6																	100403984		2203	4300	6503	100510705	SO:0001583	missense	84539			AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.40G>A	6.37:g.100403984C>T	ENSP00000281806:p.Glu14Lys	Somatic		Capture	Illumina HiSeq	Phase_I	100510705	B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320291	0.41096	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.69306	-0.39;-0.39;-0.39	4.86	3.98	0.46160	.	0.459428	0.18287	N	0.145830	T	0.25306	0.0615	L	0.27053	0.805	0.23325	N	0.9979	B	0.27853	0.191	B	0.15052	0.012	T	0.10245	-1.0638	10	0.06099	T	0.92	.	11.704	0.51587	0.0:0.9058:0.0:0.0942	.	14	Q969V1	MCHR2_HUMAN	K	14	ENSP00000403490:E14K;ENSP00000281806:E14K;ENSP00000358214:E14K	ENSP00000281806:E14K	E	-	1	0	MCHR2	100510705	0.715000	0.27946	0.967000	0.41034	0.528000	0.34623	1.606000	0.36826	2.386000	0.81285	0.561000	0.74099	GAA		MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503	
FAM184A	79632	hgsc.bcm.edu	37	6	119301435	119301435	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:119301435C>T	ENST00000338891.7	-	10	2612	c.2169G>A	c.(2167-2169)acG>acA	p.T723T	FAM184A_ENST00000368475.4_Silent_p.T603T|FAM184A_ENST00000521531.1_Silent_p.T723T|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Silent_p.T603T	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	723						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTCGTTCTTGCGTAAACTGGG	0.433																																																	0			6											104.0	100.0	101.0					6																	119301435		1904	4121	6025	119343134	SO:0001819	synonymous_variant	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.2169G>A	6.37:g.119301435C>T		Somatic		Capture	Illumina HiSeq	Phase_I	119343134	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Silent	SNP	ENST00000338891.7	37	CCDS43499.1																																																																																				FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
TRMT11	60487	hgsc.bcm.edu	37	6	126317171	126317171	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:126317171G>T	ENST00000334379.5	+	3	318	c.197G>T	c.(196-198)cGg>cTg	p.R66L	TRMT11_ENST00000450358.1_Missense_Mutation_p.R66L|TRMT11_ENST00000368332.3_Missense_Mutation_p.R66L|TRMT11_ENST00000489934.1_3'UTR	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	66					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)|tRNA binding (GO:0000049)	p.R66L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		TTGATGAAACGGACAGTGTGT	0.363											OREG0017650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	ovary(1)	6											150.0	132.0	138.0					6																	126317171		2203	4300	6503	126358864	SO:0001583	missense	60487			AF182423	CCDS35496.1	6q11.1-q22.33	2009-06-15	2006-11-28	2006-11-28	ENSG00000066651	ENSG00000066651			21080	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 75"""	C6orf75			Standard	XM_006715546		Approved	MDS024, dJ187J11.2, TRM11, TRMT11-1	uc003qam.3	Q7Z4G4	OTTHUMG00000015515	ENST00000334379.5:c.197G>T	6.37:g.126317171G>T	ENSP00000333934:p.Arg66Leu	Somatic	1548	Capture	Illumina HiSeq	Phase_I	126358864	E1P570|Q5JY11|Q6PGQ5|Q9HC13	Missense_Mutation	SNP	ENST00000334379.5	37	CCDS35496.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977274	0.92982	.	.	ENSG00000066651	ENST00000334379;ENST00000450358;ENST00000368332;ENST00000444121;ENST00000446681	T;T;T	0.70045	-0.45;-0.38;-0.43	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.85699	0.5757	M	0.93420	3.415	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88965	0.3396	10	0.87932	D	0	-3.7565	19.4836	0.95020	0.0:0.0:1.0:0.0	.	66;66	Q7Z4G4-2;Q7Z4G4	.;TRM11_HUMAN	L	66;66;66;3;3	ENSP00000333934:R66L;ENSP00000405140:R66L;ENSP00000357316:R66L	ENSP00000333934:R66L	R	+	2	0	TRMT11	126358864	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.548000	0.90669	2.595000	0.87683	0.555000	0.69702	CGG		TRMT11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_021820	
MYB	4602	hgsc.bcm.edu	37	6	135521267	135521267	+	Missense_Mutation	SNP	C	C	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:135521267C>G	ENST00000367814.4	+	11	1577	c.1391C>G	c.(1390-1392)cCa>cGa	p.P464R	MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Missense_Mutation_p.P569R|MYB_ENST00000527615.1_Missense_Mutation_p.P464R|MYB_ENST00000528774.1_Missense_Mutation_p.P582R|MYB_ENST00000341911.5_Missense_Mutation_p.P585R|MYB_ENST00000534044.1_Missense_Mutation_p.P464R|MYB_ENST00000316528.8_Missense_Mutation_p.P464R|MYB_ENST00000533624.1_Missense_Mutation_p.P429R|MYB_ENST00000525369.1_Missense_Mutation_p.P379R|MYB_ENST00000442647.2_Missense_Mutation_p.P461R	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	464	Negative regulatory domain. {ECO:0000250}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	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 positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GAAAGCTCTCCAAGAACTCCT	0.368			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0			6											94.0	99.0	97.0					6																	135521267		2203	4300	6503	135562960	SO:0001583	missense	4602				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.1391C>G	6.37:g.135521267C>G	ENSP00000356788:p.Pro464Arg	Somatic		Capture	Illumina HiSeq	Phase_I	135562960	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	ENST00000367814.4	37	CCDS5174.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749078	0.69533	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624	T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.8	5.8	0.92144	C-myb, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.74921	0.3780	M	0.86651	2.83	0.80722	D	1	B;B;B;D;D;D;D;P;B	0.89917	0.04;0.148;0.082;1.0;1.0;1.0;1.0;0.473;0.148	B;B;B;D;D;D;D;B;B	0.97110	0.057;0.133;0.039;1.0;0.999;1.0;0.999;0.347;0.133	T	0.78342	-0.2241	10	0.87932	D	0	-9.958	20.0545	0.97645	0.0:1.0:0.0:0.0	.	429;464;461;582;379;569;585;464;464	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	R	585;461;464;464;464;464;379;582;569;464;429	ENSP00000339992:P585R;ENSP00000410825:P461R;ENSP00000326328:P464R;ENSP00000356788:P464R;ENSP00000433227:P464R;ENSP00000435938:P379R;ENSP00000434723:P582R;ENSP00000432851:P569R;ENSP00000435055:P464R;ENSP00000436605:P429R	ENSP00000237302:P464R	P	+	2	0	MYB	135562960	1.000000	0.71417	0.968000	0.41197	0.998000	0.95712	7.757000	0.85209	2.748000	0.94277	0.655000	0.94253	CCA		MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042347.4		
TAB2	23118	hgsc.bcm.edu	37	6	149691206	149691206	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:149691206G>A	ENST00000367456.1	+	3	650	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	TAB2_ENST00000538427.1_Missense_Mutation_p.E25K|TAB2_ENST00000392282.1_Missense_Mutation_p.E25K|TAB2_ENST00000286332.5_Missense_Mutation_p.E25K|TAB2_ENST00000536230.1_Intron			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	25	CUE. {ECO:0000255|PROSITE- ProRule:PRU00468}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TGAAGTACCTGAAGTTGTTGT	0.373																																																	0			6											141.0	130.0	133.0					6																	149691206		2203	4300	6503	149732899	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.73G>A	6.37:g.149691206G>A	ENSP00000356426:p.Glu25Lys	Somatic		Capture	Illumina HiSeq	Phase_I	149732899	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	G	35	5.539501	0.96474	.	.	ENSG00000055208	ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T	0.76709	-1.04;-0.93;-0.93;-0.93	5.68	5.68	0.88126	Ubiquitin system component Cue (3);	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	L	0.29908	0.895	0.80722	D	1	P	0.45348	0.856	P	0.48454	0.578	T	0.75513	-0.3291	10	0.72032	D	0.01	-13.2666	20.1467	0.98079	0.0:0.0:1.0:0.0	.	25	Q9NYJ8	TAB2_HUMAN	K	25	ENSP00000376106:E25K;ENSP00000445752:E25K;ENSP00000356426:E25K;ENSP00000286332:E25K	ENSP00000286332:E25K	E	+	1	0	TAB2	149732899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.384000	0.97219	2.838000	0.97847	0.655000	0.94253	GAA		TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3		
RSPH3	83861	hgsc.bcm.edu	37	6	159401923	159401923	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:159401923C>T	ENST00000252655.1	-	6	1357	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	RSPH3_ENST00000367069.2_Missense_Mutation_p.E248K|RSPH3_ENST00000449822.1_Missense_Mutation_p.E152K|RSPH3_ENST00000297262.3_Missense_Mutation_p.E294K	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	390								p.E390K(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TGTGATGTCTCGTTGTGCTTG	0.502																																																	1	Substitution - Missense(1)	ovary(1)	6											250.0	199.0	216.0					6																	159401923		2203	4300	6503	159321911	SO:0001583	missense	83861			AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.1168G>A	6.37:g.159401923C>T	ENSP00000252655:p.Glu390Lys	Somatic		Capture	Illumina HiSeq	Phase_I	159321911	Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103879	0.76983	.	.	ENSG00000130363	ENST00000367069;ENST00000449822;ENST00000252655;ENST00000297262	T;T;T;T	0.19250	2.16;2.16;2.16;2.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.41949	0.1181	M	0.81614	2.55	0.51767	D	0.99993	D;D	0.89917	0.999;1.0	D;D	0.72982	0.972;0.979	T	0.17592	-1.0364	10	0.39692	T	0.17	-34.8515	18.2981	0.90154	0.0:1.0:0.0:0.0	.	294;390	Q86UC2-2;Q86UC2	.;RSPH3_HUMAN	K	248;152;390;294	ENSP00000356036:E248K;ENSP00000393195:E152K;ENSP00000252655:E390K;ENSP00000297262:E294K	ENSP00000252655:E390K	E	-	1	0	RSPH3	159321911	1.000000	0.71417	0.001000	0.08648	0.063000	0.16089	7.148000	0.77389	2.660000	0.90430	0.467000	0.42956	GAG		RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924	
FNDC1	84624	hgsc.bcm.edu	37	6	159652961	159652961	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:159652961G>A	ENST00000297267.9	+	11	1617	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E410K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	473					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGGAAACCCGAAAAACCTGA	0.507																																																	0			6											45.0	48.0	47.0					6																	159652961		1942	4151	6093	159572951	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1417G>A	6.37:g.159652961G>A	ENSP00000297267:p.Glu473Lys	Somatic		Capture	Illumina HiSeq	Phase_I	159572951	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.477|5.477	0.273055|0.273055	0.10349|0.10349	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	T;T|.	0.06687|.	3.27;4.09|.	5.69|5.69	-1.57|-1.57	0.08506|0.08506	.|.	3.116370|.	0.01366|.	N|.	0.012416|.	T|T	0.04272|0.04272	0.0118|0.0118	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.14805|.	0.011;0.006|.	B;B|.	0.14578|.	0.011;0.003|.	T|T	0.38607|0.38607	-0.9653|-0.9653	10|5	0.07813|.	T|.	0.8|.	-0.8896|-0.8896	2.8561|2.8561	0.05572|0.05572	0.1938:0.3902:0.2961:0.1198|0.1938:0.3902:0.2961:0.1198	.|.	410;473|.	Q4ZHG4-2;Q4ZHG4|.	.;FNDC1_HUMAN|.	K|Q	473;410|368	ENSP00000297267:E473K;ENSP00000342460:E410K|.	ENSP00000297267:E473K|.	E|R	+|+	1|2	0|0	FNDC1|FNDC1	159572951|159572951	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.032000|0.032000	0.12392|0.12392	0.243000|0.243000	0.18106|0.18106	-0.197000|-0.197000	0.10350|0.10350	-0.211000|-0.211000	0.12701|0.12701	GAA|CGA		FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
FNDC1	84624	hgsc.bcm.edu	37	6	159660580	159660580	+	Silent	SNP	C	C	T	rs368545994		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr6:159660580C>T	ENST00000297267.9	+	14	4412	c.4212C>T	c.(4210-4212)gaC>gaT	p.D1404D	FNDC1-IT1_ENST00000419703.1_RNA|FNDC1_ENST00000340366.6_Silent_p.D1341D	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1404					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGAGTCCTGACGGCCTCCCAC	0.512																																																	0			6						C		0,3730		0,0,1865	21.0	25.0	24.0		4212	-9.6	1.0	6		24	1,8205		0,1,4102	no	coding-synonymous	FNDC1	NM_032532.2		0,1,5967	TT,TC,CC		0.0122,0.0,0.0084		1404/1895	159660580	1,11935	1865	4103	5968	159580570	SO:0001819	synonymous_variant	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.4212C>T	6.37:g.159660580C>T		Somatic		Capture	Illumina HiSeq	Phase_I	159580570	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Silent	SNP	ENST00000297267.9	37	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	C	9.217	1.032473	0.19590	0.0	1.22E-4	ENSG00000164694	ENST00000329629	.	.	.	5.11	-9.55	0.00569	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40175	-0.9577	4	.	.	.	-16.8429	3.206	0.06666	0.0951:0.3525:0.1944:0.3579	.	.	.	.	W	1300	.	.	R	+	1	2	FNDC1	159580570	0.006000	0.16342	0.956000	0.39512	0.993000	0.82548	-1.636000	0.02016	-1.966000	0.01009	-0.136000	0.14681	CGG		FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
TP53	7157	hgsc.bcm.edu	37	17	7579361	7579361	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr17:7579361A>C	ENST00000269305.4	-	4	515	c.326T>G	c.(325-327)tTc>tGc	p.F109C	TP53_ENST00000413465.2_Missense_Mutation_p.F109C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.F109C|TP53_ENST00000445888.2_Missense_Mutation_p.F109C|TP53_ENST00000455263.2_Missense_Mutation_p.F109C|TP53_ENST00000420246.2_Missense_Mutation_p.F109C	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	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)	GCCCAGACGGAAACCGTAGCT	0.612		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"""	31	Substitution - Missense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Complex - deletion inframe(2)	upper_aerodigestive_tract(5)|large_intestine(5)|stomach(4)|bone(4)|breast(4)|central_nervous_system(2)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|ovary(1)	17											62.0	59.0	60.0					17																	7579361		2203	4300	6503	7520086	SO:0001583	missense	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.326T>G	17.37:g.7579361A>C	ENSP00000269305:p.Phe109Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7520086	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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.104070	0.76983	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99853	-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18;-7.18	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.104685	0.64402	D	0.000004	D	0.99866	0.9937	M	0.90977	3.165	0.47862	D	0.999536	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.997;0.999;0.999;1.0;0.999;0.998	D	0.96432	0.9320	10	0.87932	D	0	-31.6488	12.5363	0.56144	1.0:0.0:0.0:0.0	.	70;109;109;109;109;109;109	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	109	ENSP00000410739:F109C;ENSP00000352610:F109C;ENSP00000269305:F109C;ENSP00000398846:F109C;ENSP00000391127:F109C;ENSP00000391478:F109C;ENSP00000424104:F109C;ENSP00000426252:F109C	ENSP00000269305:F109C	F	-	2	0	TP53	7520086	1.000000	0.71417	0.868000	0.34077	0.936000	0.57629	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	TTC		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYH1	4619	hgsc.bcm.edu	37	17	10408265	10408265	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr17:10408265C>T	ENST00000226207.5	-	22	2647	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	851					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGCCATCTCCTTCTCTGTCT	0.448																																																	0			17											148.0	137.0	141.0					17																	10408265		2203	4300	6503	10348990	SO:0001819	synonymous_variant	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.2553G>A	17.37:g.10408265C>T		Somatic		Capture	Illumina HiSeq	Phase_I	10348990	Q14CA4|Q9Y622	Silent	SNP	ENST00000226207.5	37	CCDS11155.1																																																																																				MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
DNAH9	1770	hgsc.bcm.edu	37	17	11583192	11583192	+	Missense_Mutation	SNP	C	C	T	rs8070501	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr17:11583192C>T	ENST00000262442.4	+	18	3540	c.3472C>T	c.(3472-3474)Cgg>Tgg	p.R1158W	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1158W	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1158	Stem. {ECO:0000250}.		R -> W (in dbSNP:rs8070501).		cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGTTAAAGAACGGCAGAGTAA	0.408													C|||	57	0.0113818	0.0408	0.0029	5008	,	,		18781	0.001		0.0	False		,,,				2504	0.0																0			17						C	TRP/ARG	164,4242	111.6+/-149.8	6,152,2045	136.0	129.0	132.0		3472	2.5	0.9	17	dbSNP_116	132	2,8598	1.2+/-3.3	0,2,4298	yes	missense	DNAH9	NM_001372.3	101	6,154,6343	TT,TC,CC		0.0233,3.7222,1.2763	probably-damaging	1158/4487	11583192	166,12840	2203	4300	6503	11523917	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3472C>T	17.37:g.11583192C>T	ENSP00000262442:p.Arg1158Trp	Somatic		Capture	Illumina HiSeq	Phase_I	11523917	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	10	0.004578754578754579	9	0.018292682926829267	1	0.0027624309392265192	0	0.0	0	0.0	C	14.02	2.409862	0.42715	0.037222	2.33E-4	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.25414	1.8;1.8	5.69	2.5	0.30297	.	0.257159	0.32343	N	0.006221	T	0.25717	0.0626	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.60865	-0.7178	10	0.87932	D	0	.	16.2874	0.82727	0.6259:0.3741:0.0:0.0	rs8070501;rs52812603;rs56633662;rs8070501	1158	Q9NYC9	DYH9_HUMAN	W	1158	ENSP00000262442:R1158W;ENSP00000414874:R1158W	ENSP00000262442:R1158W	R	+	1	2	DNAH9	11523917	0.585000	0.26774	0.926000	0.36857	0.245000	0.25701	0.963000	0.29293	0.294000	0.22547	0.650000	0.86243	CGG		DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
PIGS	94005	hgsc.bcm.edu	37	17	26887161	26887161	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr17:26887161T>C	ENST00000308360.7	-	7	1100	c.725A>G	c.(724-726)gAt>gGt	p.D242G	PIGS_ENST00000543734.1_Missense_Mutation_p.D181G|PIGS_ENST00000395346.2_Missense_Mutation_p.D234G|PIGS_ENST00000465444.1_5'UTR	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	242					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.D242G(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCAGTAGACATCATGGGACTT	0.532																																																	1	Substitution - Missense(1)	kidney(1)	17											86.0	76.0	80.0					17																	26887161		2203	4300	6503	23911288	SO:0001583	missense	94005				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.725A>G	17.37:g.26887161T>C	ENSP00000309430:p.Asp242Gly	Somatic		Capture	Illumina HiSeq	Phase_I	23911288	Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.391179	0.42410	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.44482	0.92;0.92;0.92	5.95	4.88	0.63580	.	0.228534	0.51477	D	0.000091	T	0.41696	0.1170	M	0.68952	2.095	0.41399	D	0.987667	P;P	0.44344	0.833;0.799	B;B	0.43445	0.42;0.295	T	0.27739	-1.0065	10	0.22706	T	0.39	-10.7882	8.9431	0.35742	0.0:0.0658:0.1266:0.8076	.	242;234	Q96S52;Q96S52-2	PIGS_HUMAN;.	G	234;242;181	ENSP00000378755:D234G;ENSP00000309430:D242G;ENSP00000438447:D181G	ENSP00000309430:D242G	D	-	2	0	PIGS	23911288	0.982000	0.34865	0.998000	0.56505	0.363000	0.29612	2.418000	0.44662	1.088000	0.41272	-0.256000	0.11100	GAT		PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198	
NF1	4763	hgsc.bcm.edu	37	17	29562982	29562982	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr17:29562982G>T	ENST00000358273.4	+	29	4300	c.3917G>T	c.(3916-3918)cGa>cTa	p.R1306L	NF1_ENST00000356175.3_Missense_Mutation_p.R1306L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1306	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTTTATTACGAATTGTGATC	0.363			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											140.0	130.0	133.0					17																	29562982		2203	4300	6503	26587108	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3917G>T	17.37:g.29562982G>T	ENSP00000351015:p.Arg1306Leu	Somatic		Capture	Illumina HiSeq	Phase_I	26587108	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774539	0.90108	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.79352	-0.2;-1.26;-1.26	5.94	5.94	0.96194	Rho GTPase activation protein (1);Armadillo-type fold (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	D	0.85809	0.5783	L	0.48986	1.54	0.80722	D	1	P;B;D;B	0.63046	0.808;0.023;0.992;0.339	P;B;D;B	0.72982	0.496;0.024;0.979;0.195	T	0.83326	-0.0015	10	0.39692	T	0.17	.	20.3552	0.98837	0.0:0.0:1.0:0.0	.	1306;356;1306;1306	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	L	1306;1306;972	ENSP00000351015:R1306L;ENSP00000348498:R1306L;ENSP00000389907:R972L	ENSP00000348498:R1306L	R	+	2	0	NF1	26587108	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.592000	0.82676	2.812000	0.96745	0.557000	0.71058	CGA		NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
CD79B	974	hgsc.bcm.edu	37	17	62009607	62009607	+	Silent	SNP	C	C	T	rs199930415		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr17:62009607C>T	ENST00000006750.3	-	1	107	c.15G>A	c.(13-15)gcG>gcA	p.A5A	CD79B_ENST00000392795.3_Silent_p.A5A|CD79B_ENST00000349817.2_Silent_p.A5A	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	5					B cell receptor signaling pathway (GO:0050853)|immune response (GO:0006955)|signal transduction (GO:0007165)	B cell receptor complex (GO:0019815)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.A5A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						CAGGAGACAACGCCAGCCTGG	0.622			"""Mis, O"""		DLBCL																																			Dom	yes		17	17q23	974	"""CD79b molecule, immunoglobulin-associated beta"""		L	1	Substitution - coding silent(1)	kidney(1)	17											88.0	68.0	75.0					17																	62009607		2203	4300	6503	59363339	SO:0001819	synonymous_variant	974			L27587	CCDS11655.1, CCDS11656.1, CCDS42372.1	17q23	2014-09-17	2006-03-28			ENSG00000007312		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1699	protein-coding gene	gene with protein product		147245	"""CD79B antigen (immunoglobulin-associated beta)"""	IGB		9545642	Standard	XM_005257858		Approved	B29	uc002jdp.1	P40259		ENST00000006750.3:c.15G>A	17.37:g.62009607C>T		Somatic		Capture	Illumina HiSeq	Phase_I	59363339	Q53FS2|Q9BU06	Silent	SNP	ENST00000006750.3	37	CCDS11655.1																																																																																				CD79B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417711.1		
QRICH2	84074	hgsc.bcm.edu	37	17	74288735	74288735	+	Silent	SNP	G	G	A	rs368383298		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr17:74288735G>A	ENST00000262765.5	-	4	1754	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	525	Gln-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CACCAGGTTGGACCAAGCCAG	0.532																																																	0			17											164.0	133.0	143.0					17																	74288735		2203	4300	6503	71800330	SO:0001819	synonymous_variant	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1575C>T	17.37:g.74288735G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71800330	A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	CCDS32741.1																																																																																				QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134	
TPTE	7179	hgsc.bcm.edu	37	21	10934966	10934966	+	Missense_Mutation	SNP	C	C	G	rs200020621		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr21:10934966C>G	ENST00000361285.4	-	15	1156	c.827G>C	c.(826-828)cGa>cCa	p.R276P	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.R258P|TPTE_ENST00000342420.5_Missense_Mutation_p.R238P	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	276	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R258Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAGTGGTTTCGGTGTTTCTT	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)	21											255.0	227.0	236.0					21																	10934966		2203	4300	6503	9956837	SO:0001583	missense	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.827G>C	21.37:g.10934966C>G	ENSP00000355208:p.Arg276Pro	Somatic		Capture	Illumina HiSeq	Phase_I	9956837	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.359451	0.00016	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.25579	1.79;1.79;1.79	2.25	-4.5	0.03493	Phosphatase tensin type (1);	0.874116	0.10137	N	0.711356	T	0.05547	0.0146	N	0.00966	-1.09	0.09310	N	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.002;0.002;0.003	T	0.30327	-0.9982	10	0.06625	T	0.88	-0.2719	5.8332	0.18593	0.0:0.3712:0.3367:0.2922	.	238;258;276	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	P	258;276;238	ENSP00000298232:R258P;ENSP00000355208:R276P;ENSP00000344441:R238P	ENSP00000298232:R258P	R	-	2	0	TPTE	9956837	0.000000	0.05858	0.003000	0.11579	0.047000	0.14425	-2.618000	0.00880	-1.604000	0.01595	-1.247000	0.01520	CGA		TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
KRTAP24-1	643803	hgsc.bcm.edu	37	21	31655095	31655095	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr21:31655095T>G	ENST00000340345.4	-	1	181	c.156A>C	c.(154-156)caA>caC	p.Q52H		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	52						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGAGATTTCCTTGGTAGCTAC	0.488																																																	0			21											91.0	90.0	91.0					21																	31655095		1933	4155	6088	30576966	SO:0001583	missense	643803			AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.156A>C	21.37:g.31655095T>G	ENSP00000339238:p.Gln52His	Somatic		Capture	Illumina HiSeq	Phase_I	30576966	Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183720	0.38609	.	.	ENSG00000188694	ENST00000340345	T	0.05139	3.49	5.06	2.69	0.31865	.	0.243752	0.32533	N	0.005977	T	0.05960	0.0155	L	0.41824	1.3	0.31815	N	0.626742	B	0.28760	0.221	B	0.33846	0.171	T	0.07252	-1.0782	10	0.46703	T	0.11	-6.5804	4.5767	0.12238	0.0:0.0989:0.1992:0.7019	.	52	Q3LI83	KR241_HUMAN	H	52	ENSP00000339238:Q52H	ENSP00000339238:Q52H	Q	-	3	2	KRTAP24-1	30576966	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.799000	0.27028	0.983000	0.38602	0.482000	0.46254	CAA		KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	NM_001085455	
E4F1	1877	hgsc.bcm.edu	37	16	2282783	2282783	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:2282783T>C	ENST00000301727.4	+	6	805	c.757T>C	c.(757-759)Tgt>Cgt	p.C253R	E4F1_ENST00000565090.1_Missense_Mutation_p.C253R|RP11-304L19.12_ENST00000564055.1_lincRNA|E4F1_ENST00000564139.1_Missense_Mutation_p.C253R	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	253	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.C253G(1)		ovary(1)	1						GTGCTCCAAGTGTGGAAAGAG	0.612																																																	1	Substitution - Missense(1)	ovary(1)	16											60.0	68.0	65.0					16																	2282783		2197	4300	6497	2222784	SO:0001583	missense	1877			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.757T>C	16.37:g.2282783T>C	ENSP00000301727:p.Cys253Arg	Somatic		Capture	Illumina HiSeq	Phase_I	2222784	A8K2R4|O00146	Missense_Mutation	SNP	ENST00000301727.4	37	CCDS32370.1	.	.	.	.	.	.	.	.	.	.	T	17.68	3.448737	0.63178	.	.	ENSG00000167967	ENST00000301727	D	0.85955	-2.05	5.84	5.84	0.93424	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.94036	0.8089	M	0.92691	3.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95240	0.8350	10	0.87932	D	0	-8.6789	15.0285	0.71687	0.0:0.0:0.0:1.0	.	249;253;253	E9PFZ8;E7EMF7;Q66K89	.;.;E4F1_HUMAN	R	253	ENSP00000301727:C253R	ENSP00000301727:C253R	C	+	1	0	E4F1	2222784	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.846000	0.86887	2.234000	0.73211	0.459000	0.35465	TGT		E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424	
CREBBP	1387	hgsc.bcm.edu	37	16	3786078	3786078	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:3786078T>C	ENST00000262367.5	-	28	5496	c.4687A>G	c.(4687-4689)Agg>Ggg	p.R1563G	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1525G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1563	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCTTTTTCCTCTCCTCTTCT	0.517			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0			16											308.0	220.0	250.0					16																	3786078		2197	4300	6497	3726079	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4687A>G	16.37:g.3786078T>C	ENSP00000262367:p.Arg1563Gly	Somatic		Capture	Illumina HiSeq	Phase_I	3726079	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	t	15.42	2.827625	0.50845	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93547	-3.24;-3.24	5.2	4.09	0.47781	.	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.88640	2.97	0.58432	D	0.999999	D;D	0.62365	0.991;0.991	D;D	0.78314	0.991;0.991	D	0.96435	0.9322	10	0.62326	D	0.03	-24.6377	11.8222	0.52245	0.0:0.0:0.1466:0.8534	.	1593;1563	Q4LE28;Q92793	.;CBP_HUMAN	G	1563;1593;1525;152	ENSP00000262367:R1563G;ENSP00000371502:R1525G	ENSP00000262367:R1563G	R	-	1	2	CREBBP	3726079	0.722000	0.28017	0.998000	0.56505	0.989000	0.77384	0.982000	0.29539	0.898000	0.36418	0.454000	0.30748	AGG		CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
GRIN2A	2903	hgsc.bcm.edu	37	16	10031897	10031897	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:10031897T>G	ENST00000396573.2	-	4	1235	c.926A>C	c.(925-927)aAg>aCg	p.K309T	GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152T|GRIN2A_ENST00000566670.1_5'Flank|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	309					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.K309T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTAGGAGAACTTCTCCAGCAT	0.572																																																	1	Substitution - Missense(1)	lung(1)	16											79.0	64.0	69.0					16																	10031897		2197	4300	6497	9939398	SO:0001583	missense	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.926A>C	16.37:g.10031897T>G	ENSP00000379818:p.Lys309Thr	Somatic		Capture	Illumina HiSeq	Phase_I	9939398	O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	t	14.78	2.637115	0.47049	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.2	-2.02	0.07388	.	0.317437	0.37577	N	0.002032	T	0.10294	0.0252	L	0.51422	1.61	0.35392	D	0.790814	B;B;B	0.30146	0.082;0.27;0.005	B;B;B	0.41135	0.113;0.348;0.013	T	0.18999	-1.0319	9	.	.	.	.	10.4219	0.44354	0.0:0.376:0.0:0.624	.	152;309;309	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	309;309;152;309;309	ENSP00000379818:K309T;ENSP00000385872:K309T;ENSP00000441572:K152T;ENSP00000332549:K309T;ENSP00000379820:K309T	.	K	-	2	0	GRIN2A	9939398	0.997000	0.39634	0.224000	0.23877	0.936000	0.57629	2.671000	0.46842	-0.579000	0.05952	-0.441000	0.05720	AAG		GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3		
GPR139	124274	hgsc.bcm.edu	37	16	20043451	20043451	+	Missense_Mutation	SNP	G	G	A	rs144787739	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:20043451G>A	ENST00000570682.1	-	2	968	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	223					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGTCTTCCCCGTGGAGTAGCC	0.527																																																	0			16											79.0	82.0	81.0					16																	20043451		2203	4300	6503	19950952	SO:0001583	missense	124274			AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.668C>T	16.37:g.20043451G>A	ENSP00000458791:p.Thr223Met	Somatic		Capture	Illumina HiSeq	Phase_I	19950952	A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996335	0.54147	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.049812	0.85682	D	0.000000	T	0.36635	0.0974	N	0.19112	0.55	0.80722	D	1	P	0.43314	0.803	B	0.30782	0.12	T	0.35847	-0.9772	9	0.48119	T	0.1	-18.7989	18.8873	0.92383	0.0:0.0:1.0:0.0	.	223	Q6DWJ6	GP139_HUMAN	M	223	.	ENSP00000370779:T223M	T	-	2	0	GPR139	19950952	1.000000	0.71417	0.956000	0.39512	0.988000	0.76386	9.230000	0.95299	2.708000	0.92522	0.655000	0.94253	ACG		GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911	
PRKCB	5579	hgsc.bcm.edu	37	16	24046770	24046770	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:24046770T>C	ENST00000321728.7	+	5	606	c.431T>C	c.(430-432)gTg>gCg	p.V144A	PRKCB_ENST00000303531.7_Missense_Mutation_p.V144A	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	144			V -> M (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AAGCGCTGCGTGATGAATGTT	0.632																																																	0			16											116.0	95.0	102.0					16																	24046770		2197	4300	6497	23954271	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.431T>C	16.37:g.24046770T>C	ENSP00000318315:p.Val144Ala	Somatic		Capture	Illumina HiSeq	Phase_I	23954271	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	T	12.18	1.862083	0.32884	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	D;D	0.92699	-3.09;-3.09	5.07	5.07	0.68467	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);Diacylglycerol/phorbol-ester binding (1);	0.070149	0.56097	D	0.000028	D	0.85474	0.5705	N	0.20328	0.56	0.80722	D	1	B;B	0.23540	0.033;0.087	B;B	0.32090	0.086;0.14	T	0.80027	-0.1554	10	0.08599	T	0.76	.	13.9459	0.64084	0.0:0.0:0.0:1.0	.	144;144	P05771-2;P05771	.;KPCB_HUMAN	A	144	ENSP00000318315:V144A;ENSP00000305355:V144A	ENSP00000305355:V144A	V	+	2	0	PRKCB	23954271	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.621000	0.83083	2.030000	0.59900	0.460000	0.39030	GTG		PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
SPN	6693	hgsc.bcm.edu	37	16	29675098	29675098	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:29675098G>A	ENST00000360121.3	+	2	141	c.49G>A	c.(49-51)Gct>Act	p.A17T	SPN_ENST00000395389.2_Missense_Mutation_p.A17T	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	O75398	DEAF1_HUMAN	sialophorin	0	Ala-rich.				anatomical structure morphogenesis (GO:0009653)|embryonic skeletal system development (GO:0048706)|germ cell development (GO:0007281)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A17T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AAGCCCAGACGCTCTGGGGAG	0.592																																																	1	Substitution - Missense(1)	skin(1)	16											117.0	127.0	124.0					16																	29675098		2197	4300	6497	29582599	SO:0001583	missense	10522			J04536	CCDS10650.1	16p11.2	2008-07-31	2008-07-31		ENSG00000197471	ENSG00000197471		"""CD molecules"""	11249	protein-coding gene	gene with protein product	"""leukosialin"""	182160	"""sialophorin (gpL115, leukosialin, CD43)"""			2784859, 2521952	Standard	NM_001030288		Approved	LSN, CD43, GPL115	uc002dtm.4	P16150	OTTHUMG00000097765	ENST00000360121.3:c.49G>A	16.37:g.29675098G>A	ENSP00000353238:p.Ala17Thr	Somatic		Capture	Illumina HiSeq	Phase_I	29582599	A8K1F8|A8K5R8|C7T5V5|O15152|O75399|O75510|O75511|O75512|O75513|Q9UET1	Missense_Mutation	SNP	ENST00000360121.3	37	CCDS10650.1	.	.	.	.	.	.	.	.	.	.	.	16.32	3.090097	0.55968	.	.	ENSG00000197471	ENST00000395389;ENST00000436527;ENST00000360121	T;T;T	0.31247	1.5;1.5;1.5	3.17	-6.35	0.01975	.	2.233910	0.02623	N	0.103463	T	0.13200	0.0320	N	0.22421	0.69	0.09310	N	1	B	0.18610	0.029	B	0.09377	0.004	T	0.25537	-1.0129	10	0.07175	T	0.84	6.5025	0.342	0.00335	0.3716:0.2307:0.1396:0.2581	.	17	P16150	LEUK_HUMAN	T	17	ENSP00000378787:A17T;ENSP00000412907:A17T;ENSP00000353238:A17T	ENSP00000353238:A17T	A	+	1	0	SPN	29582599	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.774000	0.00777	-1.645000	0.01515	0.561000	0.74099	GCT		SPN-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215001.2		
CMTM1	113540	hgsc.bcm.edu	37	16	66611099	66611099	+	Silent	SNP	C	C	T	rs140837467	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:66611099C>T	ENST00000457188.2	+	3	454	c.333C>T	c.(331-333)gtC>gtT	p.V111V	CMTM1_ENST00000533953.1_Silent_p.V180V|CMTM2_ENST00000379486.2_5'Flank|CMTM2_ENST00000268595.2_5'Flank|CMTM1_ENST00000332695.7_Silent_p.V64V|CMTM1_ENST00000531885.1_Silent_p.V58V|CMTM1_ENST00000336328.6_Silent_p.V58V|CMTM1_ENST00000379500.2_Silent_p.V228V|RP11-403P17.2_ENST00000568430.1_RNA|CMTM1_ENST00000529506.1_Silent_p.V12V|CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000328020.6_Silent_p.V228V|CMTM1_ENST00000528324.1_Silent_p.V111V|CKLF-CMTM1_ENST00000527729.1_Silent_p.V57V	NM_181269.2	NP_851786.1	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	111	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TACTCTATGTCGGGGGGGTAA	0.403													C|||	5	0.000998403	0.0	0.0	5008	,	,		17638	0.005		0.0	False		,,,				2504	0.0																0			16											56.0	55.0	55.0					16																	66611099		2201	4300	6501	65168600	SO:0001819	synonymous_variant	113540			AF278577	CCDS10810.1, CCDS10811.1, CCDS10812.2, CCDS45503.1, CCDS45504.1, CCDS54019.1, CCDS54020.1, CCDS54021.1	16q22.1	2009-10-06	2005-11-08	2005-11-08	ENSG00000089505	ENSG00000089505			19172	protein-coding gene	gene with protein product		607884	"""chemokine-like factor super family 1"", ""chemokine-like factor superfamily 1"""	CKLFSF1		12782130	Standard	NM_181268		Approved	CKLFH1a, CKLFH	uc002epr.4	Q8IZ96	OTTHUMG00000137502	ENST00000457188.2:c.333C>T	16.37:g.66611099C>T		Somatic		Capture	Illumina HiSeq	Phase_I	65168600	Q2PPY5|Q6PEV5|Q8IU76|Q8IU83|Q8IU86|Q8IU93|Q8IZ87|Q8IZ88|Q8IZ89|Q8IZ90|Q8IZ91|Q8IZ92|Q8IZ93|Q8IZ94|Q8IZ95|Q96JC2|Q96JC3	Silent	SNP	ENST00000457188.2	37	CCDS45503.1																																																																																				CMTM1-015	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390261.2	NM_052999	
CMTM2	146225	hgsc.bcm.edu	37	16	66620926	66620926	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:66620926T>C	ENST00000268595.2	+	3	622	c.471T>C	c.(469-471)tgT>tgC	p.C157C	CMTM2_ENST00000379486.2_Silent_p.C104C	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	157	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TGATTGCTTGTGCGTTCCTTG	0.542																																																	0			16											234.0	178.0	197.0					16																	66620926		2201	4300	6501	65178427	SO:0001819	synonymous_variant	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.471T>C	16.37:g.66620926T>C		Somatic		Capture	Illumina HiSeq	Phase_I	65178427	Q5I2A4|Q8N7E5	Silent	SNP	ENST00000268595.2	37	CCDS10814.1																																																																																				CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1		
LHFPL4	375323	hgsc.bcm.edu	37	3	9547828	9547828	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:9547828G>A	ENST00000287585.6	-	3	751	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	169						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CACATGTCCCGGATGGTCTCG	0.627																																																	0			3											125.0	105.0	112.0					3																	9547828		2203	4300	6503	9522828	SO:0001583	missense	375612			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.466C>T	3.37:g.9547828G>A	ENSP00000287585:p.Arg156Trp	Somatic		Capture	Illumina HiSeq	Phase_I	9522828	A1L383|A4D0Q5	Missense_Mutation	SNP	ENST00000287585.6	37	CCDS33691.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880163	0.72294	.	.	ENSG00000156959	ENST00000287585	T	0.74526	-0.85	5.27	4.34	0.51931	.	0.000000	0.64402	U	0.000012	D	0.83899	0.5354	M	0.76838	2.35	0.54753	D	0.999988	D	0.76494	0.999	D	0.65140	0.932	D	0.85834	0.1393	10	0.87932	D	0	-4.0494	12.4244	0.55538	0.0:0.0:0.6634:0.3366	.	156	Q7Z7J7	LHPL4_HUMAN	W	156	ENSP00000287585:R156W	ENSP00000287585:R156W	R	-	1	2	LHFPL4	9522828	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.083000	0.41615	2.488000	0.83962	0.591000	0.81541	CGG		LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338298.1	NM_198560	
C3orf20	84077	hgsc.bcm.edu	37	3	14768414	14768414	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:14768414C>T	ENST00000253697.3	+	11	2025	c.1573C>T	c.(1573-1575)Cgc>Tgc	p.R525C	C3orf20_ENST00000435614.1_Missense_Mutation_p.R403C|C3orf20_ENST00000412910.1_Missense_Mutation_p.R403C	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	525						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CCAGCTGAACCGCAGAATCAG	0.532																																																	0			3											88.0	80.0	83.0					3																	14768414		2203	4300	6503	14743418	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1573C>T	3.37:g.14768414C>T	ENSP00000253697:p.Arg525Cys	Somatic		Capture	Illumina HiSeq	Phase_I	14743418	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801753	0.50315	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.12774	2.65;2.65;2.65	3.94	3.94	0.45596	.	1.301920	0.05136	N	0.493495	T	0.23133	0.0559	L	0.57536	1.79	0.09310	N	0.999999	D;D	0.59767	0.986;0.986	P;P	0.47015	0.534;0.534	T	0.23762	-1.0179	10	0.54805	T	0.06	-10.1533	11.7571	0.51882	0.0:1.0:0.0:0.0	.	403;525	Q8ND61-2;Q8ND61	.;CC020_HUMAN	C	525;403;403	ENSP00000253697:R525C;ENSP00000402933:R403C;ENSP00000396081:R403C	ENSP00000253697:R525C	R	+	1	0	C3orf20	14743418	0.001000	0.12720	0.009000	0.14445	0.004000	0.04260	0.878000	0.28126	2.490000	0.84030	0.491000	0.48974	CGC		C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137	
ANKRD28	23243	hgsc.bcm.edu	37	3	15727737	15727737	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:15727737T>C	ENST00000399451.2	-	19	2320	c.1953A>G	c.(1951-1953)ggA>ggG	p.G651G	ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.G684G	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	651						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						ACTGTCCATTTCCATCTTGAA	0.373																																																	0			3											131.0	111.0	117.0					3																	15727737		1901	4116	6017	15702741	SO:0001819	synonymous_variant	23243			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1953A>G	3.37:g.15727737T>C		Somatic		Capture	Illumina HiSeq	Phase_I	15702741	B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Silent	SNP	ENST00000399451.2	37	CCDS46769.1																																																																																				ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1	NM_015199	
PRICKLE2	166336	hgsc.bcm.edu	37	3	64133061	64133061	+	Missense_Mutation	SNP	C	C	T	rs568569832		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:64133061C>T	ENST00000295902.6	-	7	1690	c.1105G>A	c.(1105-1107)Gta>Ata	p.V369I	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.V425I	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	369					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGGGGGTCTACGTCGGCTGAC	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17392	0.0		0.0	False		,,,				2504	0.0																0			3											89.0	100.0	96.0					3																	64133061		2203	4300	6503	64108101	SO:0001583	missense	166336			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1105G>A	3.37:g.64133061C>T	ENSP00000295902:p.Val369Ile	Somatic		Capture	Illumina HiSeq	Phase_I	64108101	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.890172	0.33348	.	.	ENSG00000163637	ENST00000295902	T	0.59364	0.27	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000005	T	0.53530	0.1802	L	0.50333	1.59	0.80722	D	1	B	0.34329	0.449	B	0.26614	0.071	T	0.50939	-0.8768	10	0.39692	T	0.17	-39.3612	20.6634	0.99662	0.0:1.0:0.0:0.0	.	369	Q7Z3G6	PRIC2_HUMAN	I	369	ENSP00000295902:V369I	ENSP00000295902:V369I	V	-	1	0	PRICKLE2	64108101	1.000000	0.71417	0.987000	0.45799	0.002000	0.02628	6.066000	0.71185	2.894000	0.99253	0.655000	0.94253	GTA		PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859	
WDR5B	54554	hgsc.bcm.edu	37	3	122133513	122133513	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:122133513T>C	ENST00000330689.4	-	1	1369	c.863A>G	c.(862-864)gAg>gGg	p.E288G	RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	288										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		CTGCACAATCTCTTTAGTCTG	0.393																																																	0			3											154.0	143.0	147.0					3																	122133513		2203	4300	6503	123616203	SO:0001583	missense	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.863A>G	3.37:g.122133513T>C	ENSP00000330381:p.Glu288Gly	Somatic		Capture	Illumina HiSeq	Phase_I	123616203	B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.308303	0.81247	.	.	ENSG00000196981	ENST00000330689	T	0.62639	0.01	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045885	0.85682	D	0.000000	T	0.60702	0.2289	L	0.61387	1.9	0.80722	D	1	B	0.27932	0.194	B	0.31191	0.125	T	0.64249	-0.6452	10	0.66056	D	0.02	.	12.5914	0.56445	0.0:0.0:0.0:1.0	.	288	Q86VZ2	WDR5B_HUMAN	G	288	ENSP00000330381:E288G	ENSP00000330381:E288G	E	-	2	0	WDR5B	123616203	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.030000	0.76484	2.137000	0.66172	0.459000	0.35465	GAG		WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069	
EPHB1	2047	hgsc.bcm.edu	37	3	134670617	134670617	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:134670617T>C	ENST00000398015.3	+	3	898	c.528T>C	c.(526-528)gcT>gcC	p.A176A	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	176	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTTACCTCGCTTTTCAGGATT	0.458																																																	0			3											259.0	248.0	251.0					3																	134670617		1915	4136	6051	136153307	SO:0001819	synonymous_variant	2047			L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.528T>C	3.37:g.134670617T>C		Somatic		Capture	Illumina HiSeq	Phase_I	136153307	A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	CCDS46921.1																																																																																				EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441	
HPS3	84343	hgsc.bcm.edu	37	3	148885692	148885692	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:148885692A>G	ENST00000296051.2	+	16	2949	c.2809A>G	c.(2809-2811)Aaa>Gaa	p.K937E	HPS3_ENST00000460120.1_Missense_Mutation_p.K772E	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	937					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTGTGGTGGAAAAAACTGTT	0.318									Hermansky-Pudlak syndrome																																								0			3											90.0	96.0	94.0					3																	148885692		2203	4299	6502	150368382	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2809A>G	3.37:g.148885692A>G	ENSP00000296051:p.Lys937Glu	Somatic		Capture	Illumina HiSeq	Phase_I	150368382	A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	ENST00000296051.2	37	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	A	15.32	2.798654	0.50208	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.65916	-0.18;-0.18	5.68	4.54	0.55810	.	0.235751	0.50627	N	0.000103	T	0.57932	0.2087	L	0.47716	1.5	0.80722	D	1	P;P	0.52692	0.955;0.841	P;B	0.45712	0.491;0.341	T	0.57142	-0.7862	10	0.42905	T	0.14	-16.7649	11.2763	0.49168	0.9291:0.0:0.0709:0.0	.	772;937	G5E9V4;Q969F9	.;HPS3_HUMAN	E	937;772	ENSP00000296051:K937E;ENSP00000418230:K772E	ENSP00000296051:K937E	K	+	1	0	HPS3	150368382	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.009000	0.57110	0.996000	0.38943	0.528000	0.53228	AAA		HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1	NM_032383	
PLCH1	23007	hgsc.bcm.edu	37	3	155267601	155267601	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:155267601C>T	ENST00000340059.7	-	9	1300	c.1301G>A	c.(1300-1302)aGt>aAt	p.S434N	PLCH1_ENST00000334686.6_Missense_Mutation_p.S416N|PLCH1_ENST00000447496.2_Missense_Mutation_p.S434N|PLCH1_ENST00000494598.1_Missense_Mutation_p.S434N|PLCH1_ENST00000414191.1_Missense_Mutation_p.S416N|PLCH1_ENST00000460012.1_Missense_Mutation_p.S416N	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	434	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCCTTTCAAACTTTGAGGGCT	0.403																																																	0			3											102.0	97.0	99.0					3																	155267601		2203	4300	6503	156750295	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1301G>A	3.37:g.155267601C>T	ENSP00000345988:p.Ser434Asn	Somatic		Capture	Illumina HiSeq	Phase_I	156750295	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910276	0.33721	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.37	5.37	0.77165	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.262540	0.48767	D	0.000167	T	0.44519	0.1297	N	0.21448	0.665	0.28124	N	0.930499	B;B;B	0.14012	0.007;0.009;0.002	B;B;B	0.17979	0.011;0.02;0.003	T	0.23190	-1.0195	10	0.17832	T	0.49	.	9.7895	0.40697	0.0:0.8408:0.0:0.1592	.	416;434;434	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	N	434;416;434;434;416;416	ENSP00000419100:S434N;ENSP00000417502:S416N;ENSP00000402759:S434N;ENSP00000345988:S434N;ENSP00000335469:S416N;ENSP00000412977:S416N	ENSP00000335469:S416N	S	-	2	0	PLCH1	156750295	0.976000	0.34144	0.933000	0.37362	0.999000	0.98932	1.581000	0.36558	2.658000	0.90341	0.650000	0.86243	AGT		PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996	
WDR49	151790	hgsc.bcm.edu	37	3	167245795	167245795	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:167245795A>C	ENST00000308378.3	-	11	1666	c.1361T>G	c.(1360-1362)cTt>cGt	p.L454R	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.L279R	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	454										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACTGGAGTTAAGACAGTACTC	0.358																																																	0			3											112.0	107.0	108.0					3																	167245795		2203	4300	6503	168728489	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1361T>G	3.37:g.167245795A>C	ENSP00000311343:p.Leu454Arg	Somatic		Capture	Illumina HiSeq	Phase_I	168728489	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506894	0.44558	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.58060	0.36;1.63	5.7	4.55	0.56014	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.461172	0.21899	N	0.067469	T	0.53206	0.1782	M	0.71920	2.185	0.80722	D	1	P	0.50272	0.933	P	0.45037	0.467	T	0.53272	-0.8462	10	0.42905	T	0.14	.	8.745	0.34580	0.9115:0.0:0.0885:0.0	.	454	Q8IV35	WDR49_HUMAN	R	454;279	ENSP00000311343:L454R;ENSP00000420508:L279R	ENSP00000311343:L454R	L	-	2	0	WDR49	168728489	0.999000	0.42202	1.000000	0.80357	0.373000	0.29922	3.597000	0.54031	1.005000	0.39183	0.455000	0.32223	CTT		WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
PIK3CA	5290	hgsc.bcm.edu	37	3	178936050	178936050	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:178936050T>C	ENST00000263967.3	+	10	1749	c.1592T>C	c.(1591-1593)cTc>cCc	p.L531P		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	531	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.L531P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAAGAACAGCTCAAAGCAATT	0.338		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	breast(1)	3											42.0	43.0	42.0					3																	178936050		1797	4059	5856	180418744	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1592T>C	3.37:g.178936050T>C	ENSP00000263967:p.Leu531Pro	Somatic		Capture	Illumina HiSeq	Phase_I	180418744	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.376442	0.82682	.	.	ENSG00000121879	ENST00000263967	T	0.76709	-1.04	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.070144	0.64402	D	0.000016	D	0.90800	0.7111	M	0.93241	3.395	0.80722	D	1	D	0.63880	0.993	D	0.69479	0.964	D	0.93093	0.6501	10	0.87932	D	0	-30.4996	16.1026	0.81194	0.0:0.0:0.0:1.0	.	531	P42336	PK3CA_HUMAN	P	531	ENSP00000263967:L531P	ENSP00000263967:L531P	L	+	2	0	PIK3CA	180418744	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.698000	0.84413	2.198000	0.70561	0.383000	0.25322	CTC		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178938935	178938935	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:178938935A>G	ENST00000263967.3	+	14	2334	c.2177A>G	c.(2176-2178)gAa>gGa	p.E726G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAGAAGGATGAAACACAAAAG	0.428		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											88.0	77.0	81.0					3																	178938935		1914	4118	6032	180421629	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2177A>G	3.37:g.178938935A>G	ENSP00000263967:p.Glu726Gly	Somatic		Capture	Illumina HiSeq	Phase_I	180421629	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504732	0.64410	.	.	ENSG00000121879	ENST00000263967	T	0.80994	-1.44	5.6	5.6	0.85130	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.76976	0.4063	L	0.46157	1.445	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.75482	-0.3302	10	0.27082	T	0.32	-19.3819	15.7853	0.78297	1.0:0.0:0.0:0.0	.	726	P42336	PK3CA_HUMAN	G	726	ENSP00000263967:E726G	ENSP00000263967:E726G	E	+	2	0	PIK3CA	180421629	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	8.962000	0.93254	2.129000	0.65627	0.533000	0.62120	GAA		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178951967	178951967	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:178951967T>C	ENST00000263967.3	+	21	3179	c.3022T>C	c.(3022-3024)Tct>Cct	p.S1008P	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1008	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.S1008P(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GATGCTTGGCTCTGGAATGCC	0.378		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	3	Substitution - Missense(3)	lung(2)|large_intestine(1)	3											113.0	101.0	105.0					3																	178951967		1885	4106	5991	180434661	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3022T>C	3.37:g.178951967T>C	ENSP00000263967:p.Ser1008Pro	Somatic		Capture	Illumina HiSeq	Phase_I	180434661	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848321	0.71603	.	.	ENSG00000121879	ENST00000263967	D	0.82255	-1.59	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.89681	0.6785	M	0.86740	2.835	0.80722	D	1	P	0.52316	0.952	P	0.51701	0.677	D	0.91272	0.5045	10	0.72032	D	0.01	-16.2835	16.635	0.85050	0.0:0.0:0.0:1.0	.	1008	P42336	PK3CA_HUMAN	P	1008	ENSP00000263967:S1008P	ENSP00000263967:S1008P	S	+	1	0	PIK3CA	180434661	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.510000	0.81708	2.330000	0.79161	0.477000	0.44152	TCT		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
FXR1	8087	hgsc.bcm.edu	37	3	180669154	180669154	+	Silent	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:180669154A>G	ENST00000357559.4	+	8	1083	c.699A>G	c.(697-699)gcA>gcG	p.A233A	FXR1_ENST00000468861.1_Silent_p.A148A|FXR1_ENST00000305586.7_Silent_p.A148A|FXR1_ENST00000445140.2_Silent_p.A233A|FXR1_ENST00000480918.1_Silent_p.A220A|FXR1_ENST00000491062.1_Silent_p.A184A	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	233	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.		A -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of translation (GO:0017148)	costamere (GO:0043034)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysome (GO:0005844)	G-quadruplex RNA binding (GO:0002151)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGGGCCTGGCAATAGGAACAC	0.393																																																	0			3											103.0	99.0	100.0					3																	180669154		2203	4300	6503	182151848	SO:0001819	synonymous_variant	8087			M67468	CCDS3238.1, CCDS33894.1, CCDS46965.1	3q28	2014-01-28			ENSG00000114416	ENSG00000114416			4023	protein-coding gene	gene with protein product		600819				7781595, 9642279	Standard	NM_005087		Approved		uc003fkq.3	P51114	OTTHUMG00000158138	ENST00000357559.4:c.699A>G	3.37:g.180669154A>G		Somatic		Capture	Illumina HiSeq	Phase_I	182151848	A8K9B8|Q7Z450|Q8N6R8	Silent	SNP	ENST00000357559.4	37	CCDS3238.1																																																																																				FXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350265.5		
EIF4A2	1974	hgsc.bcm.edu	37	3	186503977	186503977	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr3:186503977T>C	ENST00000323963.5	+	6	606	c.542T>C	c.(541-543)gTt>gCt	p.V181A	SNORA63_ENST00000363548.1_RNA|SNORA81_ENST00000408493.2_RNA|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.V86A|SNORA4_ENST00000584302.1_RNA|SNORA63_ENST00000363450.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.V182A			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	181	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.		V -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		AAAATGTTTGTTTTGGATGAA	0.328			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0			3											79.0	78.0	78.0					3																	186503977		2203	4300	6503	187986671	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.542T>C	3.37:g.186503977T>C	ENSP00000326381:p.Val181Ala	Somatic		Capture	Illumina HiSeq	Phase_I	187986671	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016483	0.75161	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.34072	1.38;1.38;1.38	5.13	5.13	0.70059	RNA helicase, ATP-dependent, DEAD-box, conserved site (1);DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.64394	0.2594	M	0.92555	3.32	0.80722	D	1	P;B;B;B	0.39391	0.671;0.025;0.303;0.352	P;B;P;P	0.54431	0.752;0.202;0.463;0.598	T	0.71467	-0.4584	10	0.72032	D	0.01	-12.8887	13.2127	0.59834	0.0:0.0:0.0:1.0	.	37;86;182;181	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	A	181;182;86	ENSP00000326381:V181A;ENSP00000398370:V182A;ENSP00000348925:V86A	ENSP00000326381:V181A	V	+	2	0	EIF4A2	187986671	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.271000	0.78506	2.281000	0.76405	0.528000	0.53228	GTT		EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967	
AKAP3	10566	hgsc.bcm.edu	37	12	4725013	4725013	+	Silent	SNP	G	G	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:4725013G>T	ENST00000545990.2	-	6	2978	c.2454C>A	c.(2452-2454)ggC>ggA	p.G818G	AKAP3_ENST00000228850.1_Silent_p.G818G|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	818					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GCAGAACCTCGCCCACACTGC	0.577																																																	0			12											130.0	107.0	115.0					12																	4725013		2203	4300	6503	4595274	SO:0001819	synonymous_variant	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2454C>A	12.37:g.4725013G>T		Somatic		Capture	Illumina HiSeq	Phase_I	4595274	O75945|Q86X01|Q9UM61	Silent	SNP	ENST00000545990.2	37	CCDS8531.1																																																																																				AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422	
CHD4	1108	hgsc.bcm.edu	37	12	6690894	6690894	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:6690894C>T	ENST00000357008.2	-	31	4765	c.4602G>A	c.(4600-4602)ggG>ggA	p.G1534G	RP5-940J5.6_ENST00000501075.2_RNA|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000544040.1_Silent_p.G1527G|CHD4_ENST00000544484.1_Silent_p.G1559G|CHD4_ENST00000309577.6_Silent_p.G1562G|CHD4_ENST00000540960.1_5'Flank	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1534					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GGGAGGGTGACCCTGGCTGGG	0.557																																					Colon(32;586 792 4568 16848 45314)												0			12											202.0	192.0	195.0					12																	6690894		2203	4300	6503	6561155	SO:0001819	synonymous_variant	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4602G>A	12.37:g.6690894C>T		Somatic		Capture	Illumina HiSeq	Phase_I	6561155	Q8IXZ5	Silent	SNP	ENST00000357008.2	37	CCDS8552.1																																																																																				CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
C1RL	51279	hgsc.bcm.edu	37	12	7248993	7248993	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:7248993C>A	ENST00000266542.4	-	6	1550	c.1458G>T	c.(1456-1458)aaG>aaT	p.K486N	C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	486					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGGGTCAATTCTTGCCATTCA	0.582																																																	0			12											99.0	96.0	97.0					12																	7248993		2203	4300	6503	7140135	SO:0001583	missense	51279			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1458G>T	12.37:g.7248993C>A	ENSP00000266542:p.Lys486Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7140135	Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028889	0.35797	.	.	ENSG00000139178	ENST00000266542	D	0.87966	-2.32	4.68	0.185	0.15096	.	0.915744	0.09394	N	0.808196	T	0.61887	0.2383	N	0.02120	-0.675	0.09310	N	0.999999	P	0.44627	0.839	B	0.41813	0.367	T	0.60530	-0.7245	10	0.09084	T	0.74	.	0.6743	0.00864	0.1915:0.3828:0.1873:0.2384	.	486	Q9NZP8	C1RL_HUMAN	N	486	ENSP00000266542:K486N	ENSP00000266542:K486N	K	-	3	2	C1RL	7140135	0.000000	0.05858	0.003000	0.11579	0.042000	0.13812	-0.284000	0.08422	0.224000	0.20940	0.511000	0.50034	AAG		C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546	
PRB1	5542	hgsc.bcm.edu	37	12	11506650	11506650	+	Intron	SNP	A	A	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:11506650A>C	ENST00000500254.2	-	3	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)			GGGGACCTTGAGGTCTGTTGC	0.612																																																	0			12											16.0	13.0	14.0					12																	11506650		1285	2277	3562	11397917	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.313+73T>G	12.37:g.11506650A>C		Somatic		Capture	Illumina HiSeq	Phase_I	11397917	Q08805|Q15186|Q15187|Q15214|Q15215|Q16038	Silent	SNP	ENST00000500254.2	37	CCDS8642.1																																																																																				PRB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402312.1	NM_005039	
KRT3	3850	hgsc.bcm.edu	37	12	53189685	53189685	+	Missense_Mutation	SNP	C	C	T	rs370673258		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:53189685C>T	ENST00000417996.2	-	1	216	c.142G>A	c.(142-144)Gga>Aga	p.G48R	KRT3_ENST00000309505.3_Missense_Mutation_p.G48R	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	48	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CCACCTGCTCCGCTCCGGAAG	0.672																																																	0			12						C	ARG/GLY	1,4405		0,1,2202	48.0	64.0	58.0		142	4.1	0.0	12		58	0,8600		0,0,4300	no	missense	KRT3	NM_057088.2	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	48/629	53189685	1,13005	2203	4300	6503	51475952	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.142G>A	12.37:g.53189685C>T	ENSP00000413479:p.Gly48Arg	Somatic		Capture	Illumina HiSeq	Phase_I	51475952	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	c	5.539	0.284282	0.10513	2.27E-4	0.0	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.94000	-3.33;-3.33	5.01	4.13	0.48395	.	0.150870	0.30930	N	0.008598	D	0.93497	0.7925	L	0.59912	1.85	0.29403	N	0.861766	D	0.62365	0.991	P	0.52710	0.707	D	0.90216	0.4268	10	0.62326	D	0.03	.	12.0201	0.53337	0.0:0.9193:0.0:0.0807	.	48	P12035	K2C3_HUMAN	R	48	ENSP00000413479:G48R;ENSP00000312206:G48R	ENSP00000312206:G48R	G	-	1	0	KRT3	51475952	0.007000	0.16637	0.014000	0.15608	0.074000	0.17049	1.146000	0.31589	1.259000	0.44117	0.555000	0.69702	GGA		KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
ESYT1	23344	hgsc.bcm.edu	37	12	56531355	56531355	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:56531355A>G	ENST00000394048.5	+	18	2275	c.2011A>G	c.(2011-2013)Aag>Gag	p.K671E	ESYT1_ENST00000267113.4_Missense_Mutation_p.K681E|ESYT1_ENST00000541590.1_Missense_Mutation_p.K681E	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	671	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGGACTGGTGAAGGGCAAGTC	0.537																																																	0			12											148.0	152.0	150.0					12																	56531355		2203	4300	6503	54817622	SO:0001583	missense	23344			AK074368	CCDS8904.1, CCDS53801.1	12q13.2	2014-07-02	2009-06-23	2009-06-23		ENSG00000139641		"""Synaptotagmins"""	29534	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member A"""	FAM62A		9872452, 10350628, 17672888	Standard	NM_015292		Approved	MBC2, KIAA0747	uc001sjr.3	Q9BSJ8		ENST00000394048.5:c.2011A>G	12.37:g.56531355A>G	ENSP00000377612:p.Lys671Glu	Somatic		Capture	Illumina HiSeq	Phase_I	54817622	A0FGR7|A8K2S2|O94848|Q6PJN4|Q9H6J1|Q9H6W2|Q9Y416	Missense_Mutation	SNP	ENST00000394048.5	37	CCDS8904.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.866003	0.91511	.	.	ENSG00000139641	ENST00000394048;ENST00000402331;ENST00000267113;ENST00000541590	T;T;T	0.70282	-0.47;-0.47;-0.47	5.22	3.99	0.46301	C2 membrane targeting protein (1);C2 region (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.100333	0.64402	D	0.000003	T	0.70937	0.3281	N	0.25647	0.755	0.54753	D	0.999988	D;D	0.76494	0.999;0.996	D;D	0.76575	0.988;0.936	T	0.65421	-0.6172	10	0.18710	T	0.47	-22.7381	11.1822	0.48636	0.8463:0.1537:0.0:0.0	.	681;671	Q9BSJ8-2;Q9BSJ8	.;ESYT1_HUMAN	E	671;625;681;681	ENSP00000377612:K671E;ENSP00000267113:K681E;ENSP00000445952:K681E	ENSP00000267113:K681E	K	+	1	0	ESYT1	54817622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.011000	0.49567	2.108000	0.64289	0.533000	0.62120	AAG		ESYT1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000407906.1	NM_015292	
NAP1L1	4673	hgsc.bcm.edu	37	12	76447074	76447074	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:76447074T>C	ENST00000261182.8	-	10	1313	c.827A>G	c.(826-828)aAg>aGg	p.K276R	NAP1L1_ENST00000431879.3_Missense_Mutation_p.K208R|NAP1L1_ENST00000549596.1_Missense_Mutation_p.K276R|NAP1L1_ENST00000535020.2_Missense_Mutation_p.K276R|NAP1L1_ENST00000393263.3_Missense_Mutation_p.K276R|NAP1L1_ENST00000548044.1_Missense_Mutation_p.K235R|NAP1L1_ENST00000552342.1_Missense_Mutation_p.K287R|NAP1L1_ENST00000547773.1_Missense_Mutation_p.K213R|NAP1L1_ENST00000544816.1_Missense_Mutation_p.K93R|NAP1L1_ENST00000547993.1_Missense_Mutation_p.K93R|NAP1L1_ENST00000542344.1_Missense_Mutation_p.K234R	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	276					DNA replication (GO:0006260)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GTGTTTCTGCTTCTTCTTAAT	0.348																																																	0			12											135.0	137.0	136.0					12																	76447074		2203	4300	6503	74733341	SO:0001583	missense	4673				CCDS9013.1	12q21.1	2010-03-17			ENSG00000187109	ENSG00000187109			7637	protein-coding gene	gene with protein product		164060				8297347	Standard	NM_004537		Approved	NRP, NAP1, NAP1L, MGC8688, MGC23410	uc001sxx.2	P55209		ENST00000261182.8:c.827A>G	12.37:g.76447074T>C	ENSP00000261182:p.Lys276Arg	Somatic		Capture	Illumina HiSeq	Phase_I	74733341	B3KNT8	Missense_Mutation	SNP	ENST00000261182.8	37	CCDS9013.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.285740	0.80803	.	.	ENSG00000187109	ENST00000261182;ENST00000552056;ENST00000393263;ENST00000431879;ENST00000547773;ENST00000544816;ENST00000542344;ENST00000535020;ENST00000549596;ENST00000547993;ENST00000552342;ENST00000548044	T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.61022	0.2314	L	0.61036	1.89	0.80722	D	1	P;P;P;P;B;B;P	0.51351	0.847;0.455;0.847;0.944;0.04;0.027;0.934	P;P;P;P;B;B;P	0.49561	0.615;0.612;0.615;0.612;0.199;0.119;0.612	T	0.64097	-0.6487	10	0.56958	D	0.05	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	276;234;287;276;208;213;276	F5H4R6;B7Z9C2;F8W0J6;B3KNT8;B3KV44;F8W543;P55209	.;.;.;.;.;.;NP1L1_HUMAN	R	276;270;276;208;213;93;234;276;276;93;287;235	ENSP00000261182:K276R;ENSP00000450236:K270R;ENSP00000376947:K276R;ENSP00000409795:K208R;ENSP00000448167:K213R;ENSP00000437507:K93R;ENSP00000444759:K234R;ENSP00000445008:K276R;ENSP00000447793:K276R;ENSP00000448007:K93R;ENSP00000447196:K287R;ENSP00000449649:K235R	ENSP00000261182:K276R	K	-	2	0	NAP1L1	74733341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.037000	0.88933	2.282000	0.76494	0.529000	0.55759	AAG		NAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405850.3	NM_139207	
CCDC38	120935	hgsc.bcm.edu	37	12	96300225	96300225	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:96300225G>A	ENST00000344280.3	-	5	866	c.309C>T	c.(307-309)tcC>tcT	p.S103S		NM_182496.2	NP_872302.2	Q502W7	CCD38_HUMAN	coiled-coil domain containing 38	103										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTTTGTGTCGGAACCTGTGA	0.338																																																	0			12											81.0	77.0	78.0					12																	96300225		2203	4300	6503	94824356	SO:0001819	synonymous_variant	120935			AK097408	CCDS9056.1	12q23.1	2005-11-02				ENSG00000165972			26843	protein-coding gene	gene with protein product							Standard	NM_182496		Approved	FLJ40089	uc001tek.2	Q502W7	OTTHUMG00000170352	ENST00000344280.3:c.309C>T	12.37:g.96300225G>A		Somatic		Capture	Illumina HiSeq	Phase_I	94824356	Q8N835	Silent	SNP	ENST00000344280.3	37	CCDS9056.1																																																																																				CCDC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408634.1	NM_182496	
ACTR6	64431	hgsc.bcm.edu	37	12	100617606	100617606	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:100617606G>A	ENST00000188312.2	+	11	1869	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	ACTR6_ENST00000551617.1_Silent_p.E266E|ACTR6_ENST00000546902.1_Silent_p.E286E|ACTR6_ENST00000552376.1_Silent_p.E348E	NM_022496.4	NP_071941.1	Q9GZN1	ARP6_HUMAN	ARP6 actin-related protein 6 homolog (yeast)	368						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TGATATCAGAGAATGATGATT	0.338																																																	0			12											118.0	123.0	121.0					12																	100617606		2203	4300	6503	99141737	SO:0001819	synonymous_variant	64431			AF212251	CCDS9074.1	12q23.1	2012-07-09			ENSG00000075089	ENSG00000075089			24025	protein-coding gene	gene with protein product						11368909	Standard	NM_022496		Approved	ARP6, FLJ13433	uc001thb.2	Q9GZN1	OTTHUMG00000170245	ENST00000188312.2:c.1104G>A	12.37:g.100617606G>A		Somatic		Capture	Illumina HiSeq	Phase_I	99141737	B3KW37|B4DLG9|Q53GH2|Q9BY39|Q9H8H6	Silent	SNP	ENST00000188312.2	37	CCDS9074.1																																																																																				ACTR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408159.1	NM_022496	
IFT81	28981	hgsc.bcm.edu	37	12	110581326	110581326	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:110581326T>C	ENST00000242591.5	+	9	1427	c.921T>C	c.(919-921)tcT>tcC	p.S307S	IFT81_ENST00000552912.1_Silent_p.S307S|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000361948.4_Silent_p.S307S	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	307					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TGGGCCATTCTGATCTTCTTG	0.299																																																	0			12											71.0	83.0	79.0					12																	110581326		2189	4281	6470	109065709	SO:0001819	synonymous_variant	28981			AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.921T>C	12.37:g.110581326T>C		Somatic		Capture	Illumina HiSeq	Phase_I	109065709	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Silent	SNP	ENST00000242591.5	37	CCDS41831.1																																																																																				IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055	
TRAFD1	10906	hgsc.bcm.edu	37	12	112578641	112578641	+	Missense_Mutation	SNP	C	C	T	rs201271111		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:112578641C>T	ENST00000257604.5	+	5	873	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	TRAFD1_ENST00000412615.2_Missense_Mutation_p.R86W	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	86					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GTGCCCTTTGCGGCTTGCTGT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		20570	0.0		0.001	False		,,,				2504	0.0																0			12											69.0	66.0	67.0					12																	112578641		2203	4300	6503	111063024	SO:0001583	missense	10906			AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.256C>T	12.37:g.112578641C>T	ENSP00000257604:p.Arg86Trp	Somatic		Capture	Illumina HiSeq	Phase_I	111063024	A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	CCDS9160.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	19.33	3.807314	0.70797	.	.	ENSG00000135148	ENST00000412615;ENST00000549358;ENST00000257604;ENST00000552896	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.7	2.44	0.29823	.	0.263092	0.38164	N	0.001783	T	0.63141	0.2486	M	0.85542	2.76	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.983	T	0.72447	-0.4291	10	0.87932	D	0	-7.4732	15.7607	0.78076	0.3851:0.6149:0.0:0.0	.	86;86	F8VNX8;O14545	.;TRAD1_HUMAN	W	86	ENSP00000396526:R86W;ENSP00000449319:R86W;ENSP00000257604:R86W;ENSP00000450357:R86W	ENSP00000257604:R86W	R	+	1	2	TRAFD1	111063024	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.004000	0.49513	0.702000	0.31825	0.563000	0.77884	CGG		TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700	
PTPN11	5781	hgsc.bcm.edu	37	12	112915523	112915523	+	Missense_Mutation	SNP	A	A	G	rs28933386		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:112915523A>G	ENST00000351677.2	+	8	1120	c.922A>G	c.(922-924)Aat>Gat	p.N308D	PTPN11_ENST00000392597.1_Missense_Mutation_p.N308D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	308	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		N -> D (in NS1; common mutation). {ECO:0000269|PubMed:11704759, ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12161469, ECO:0000269|PubMed:12634870, ECO:0000269|PubMed:12960218}.|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue). {ECO:0000269|PubMed:11992261, ECO:0000269|PubMed:12960218}.		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)	p.N308D(1)		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						CATCAATGCAAATATCATCAT	0.378			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	12	GRCh37	CM013422	PTPN11	M	rs28933386	A	ASP/ASN	0,4406		0,0,2203	206.0	178.0	188.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	922	4.5	1.0	12	dbSNP_125	188	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTPN11	NM_002834.3	23	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	308/594	112915523	1,13005	2203	4300	6503	111399906	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.922A>G	12.37:g.112915523A>G	ENSP00000340944:p.Asn308Asp	Somatic		Capture	Illumina HiSeq	Phase_I	111399906	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	19.48	3.834908	0.71373	0.0	1.16E-4	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.99479	-5.98;-5.98	5.64	4.5	0.54988	.	0.000000	0.85682	D	0.000000	D	0.99342	0.9769	H	0.96430	3.82	0.80722	A	1	B;B	0.31910	0.229;0.346	B;B	0.39840	0.167;0.311	D	0.99958	1.1671	9	0.72032	D	0.01	.	11.3384	0.49518	0.9292:0.0:0.0708:0.0	rs28933386	308;308	Q06124-2;Q06124-3	.;.	D	308	ENSP00000376376:N308D;ENSP00000340944:N308D	ENSP00000340944:N308D	N	+	1	0	PTPN11	111399906	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	8.869000	0.92326	0.998000	0.38996	0.524000	0.50904	AAT		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-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	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	
TMEM132B	114795	hgsc.bcm.edu	37	12	126137028	126137028	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:126137028G>A	ENST00000299308.3	+	8	1949	c.1941G>A	c.(1939-1941)acG>acA	p.T647T	TMEM132B_ENST00000535886.1_Silent_p.T159T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	647						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTGAGAAGACGGTGATTGTCC	0.572																																																	0			12											33.0	35.0	35.0					12																	126137028		2076	4228	6304	124702981	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1941G>A	12.37:g.126137028G>A		Somatic		Capture	Illumina HiSeq	Phase_I	124702981	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
MMP17	4326	hgsc.bcm.edu	37	12	132335618	132335618	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:132335618C>T	ENST00000360564.1	+	10	1713	c.1611C>T	c.(1609-1611)gaC>gaT	p.D537D	MMP17_ENST00000535291.1_Silent_p.D453D|MMP17_ENST00000535004.1_Silent_p.D77D	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	537					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CGGGCGTGGACGCGGCAGAGG	0.692																																																	0			12											25.0	25.0	25.0					12																	132335618		2195	4294	6489	130901571	SO:0001819	synonymous_variant	4326			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1611C>T	12.37:g.132335618C>T		Somatic		Capture	Illumina HiSeq	Phase_I	130901571	Q14850	Silent	SNP	ENST00000360564.1	37	CCDS31927.1																																																																																				MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155	
OR4N4	283694	hgsc.bcm.edu	37	15	22382522	22382522	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr15:22382522T>C	ENST00000328795.4	+	1	141	c.50T>C	c.(49-51)cTg>cCg	p.L17P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCTTGGTCTGACTCAGTCT	0.353																																																	0			15											139.0	135.0	137.0					15																	22382522		2187	4260	6447	19883886	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.50T>C	15.37:g.22382522T>C	ENSP00000332500:p.Leu17Pro	Somatic		Capture	Illumina HiSeq	Phase_I	19883886	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.244	0.807557	0.16467	.	.	ENSG00000183706	ENST00000328795	T	0.00344	8.02	3.24	3.24	0.37175	.	0.000000	0.37857	N	0.001901	T	0.01061	0.0035	H	0.94658	3.565	0.22412	N	0.999123	D	0.89917	1.0	D	0.83275	0.996	T	0.14420	-1.0473	10	0.87932	D	0	-8.0908	9.793	0.40717	0.0:0.0:0.0:1.0	.	17	Q8N0Y3	OR4N4_HUMAN	P	17	ENSP00000332500:L17P	ENSP00000332500:L17P	L	+	2	0	OR4N4	19883886	0.081000	0.21417	0.160000	0.22671	0.108000	0.19459	2.867000	0.48428	1.465000	0.48006	0.164000	0.16699	CTG		OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
MGA	23269	hgsc.bcm.edu	37	15	42042703	42042703	+	Missense_Mutation	SNP	G	G	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr15:42042703G>C	ENST00000570161.1	+	16	6898	c.6898G>C	c.(6898-6900)Gat>Cat	p.D2300H	MGA_ENST00000566586.1_Missense_Mutation_p.D2091H|MGA_ENST00000389936.4_Missense_Mutation_p.D2261H|MGA_ENST00000545763.1_Missense_Mutation_p.D2091H|MGA_ENST00000219905.7_Missense_Mutation_p.D2300H			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTTTGGATTTGGAAGA	0.408																																																	0			15											115.0	106.0	109.0					15																	42042703		1926	4126	6052	39829995	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6898G>C	15.37:g.42042703G>C	ENSP00000457035:p.Asp2300His	Somatic		Capture	Illumina HiSeq	Phase_I	39829995	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082545	0.36758	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.87412	-2.23;-2.23;-2.25	5.11	2.12	0.27331	.	0.970504	0.08436	N	0.946207	T	0.79857	0.4518	N	0.19112	0.55	0.24012	N	0.996179	B;B;B;B	0.34103	0.003;0.005;0.437;0.437	B;B;B;B	0.38655	0.006;0.015;0.278;0.201	T	0.68322	-0.5439	10	0.51188	T	0.08	.	7.2643	0.26222	0.1484:0.1377:0.7138:0.0	.	916;2091;2300;2261	B4DVS1;F5H7K2;E7ENI0;Q8IWI9	.;.;.;MGAP_HUMAN	H	2300;2261;2091	ENSP00000219905:D2300H;ENSP00000374586:D2261H;ENSP00000442467:D2091H	ENSP00000219905:D2300H	D	+	1	0	MGA	39829995	1.000000	0.71417	0.934000	0.37439	0.981000	0.71138	1.054000	0.30455	0.286000	0.22352	0.591000	0.81541	GAT		MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
CATSPER2	117155	hgsc.bcm.edu	37	15	43940168	43940168	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr15:43940168T>C	ENST00000321596.5	-	2	291	c.92A>G	c.(91-93)cAt>cGt	p.H31R	CATSPER2_ENST00000381761.1_Missense_Mutation_p.H37R|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000396879.1_Missense_Mutation_p.H31R|CATSPER2_ENST00000355438.2_Missense_Mutation_p.H31R|CATSPER2_ENST00000354127.4_Missense_Mutation_p.H31R|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	31					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.H31L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCTTGCAAATGCTCAATGAG	0.473																																																	1	Substitution - Missense(1)	ovary(1)	15											183.0	181.0	182.0					15																	43940168		2199	4296	6495	41727460	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.92A>G	15.37:g.43940168T>C	ENSP00000321463:p.His31Arg	Somatic		Capture	Illumina HiSeq	Phase_I	41727460	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694243	0.48202	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481;ENST00000419473	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	2.64	2.64	0.31445	.	2.597920	0.01853	N	0.036089	T	0.60157	0.2247	M	0.73598	2.24	0.29336	N	0.866362	D;D;D	0.76494	0.999;0.998;0.997	D;D;P	0.71184	0.972;0.935;0.863	T	0.18053	-1.0349	10	0.48119	T	0.1	.	7.0877	0.25267	0.0:0.0:0.0:1.0	.	31;37;31	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	R	31;31;37;31;31;31;31;31;31	ENSP00000380088:H31R;ENSP00000371180:H37R;ENSP00000321463:H31R;ENSP00000339137:H31R;ENSP00000347613:H31R;ENSP00000407694:H31R;ENSP00000386595:H31R	ENSP00000299989:H31R	H	-	2	0	CATSPER2	41727460	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.580000	0.53907	1.219000	0.43474	0.155000	0.16302	CAT		CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	
TMOD3	29766	hgsc.bcm.edu	37	15	52181329	52181329	+	Silent	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr15:52181329A>G	ENST00000308580.7	+	5	764	c.483A>G	c.(481-483)caA>caG	p.Q161Q	TMOD3_ENST00000544199.1_Silent_p.Q161Q|RP11-56B16.5_ENST00000558142.1_RNA	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	161						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		GTGTTGACCAAGAACATTTTT	0.299																																					Colon(122;1837 2251 18387 22826)												0			15											74.0	75.0	75.0					15																	52181329		2194	4278	6472	49968621	SO:0001819	synonymous_variant	29766			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.483A>G	15.37:g.52181329A>G		Somatic		Capture	Illumina HiSeq	Phase_I	49968621	B2R6G7|Q9NT43|Q9NZR0	Silent	SNP	ENST00000308580.7	37	CCDS10145.1																																																																																				TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3		
TMC3	342125	hgsc.bcm.edu	37	15	81625315	81625315	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr15:81625315G>A	ENST00000359440.5	-	22	2883	c.2748C>T	c.(2746-2748)gaC>gaT	p.D916D	TMC3_ENST00000558726.1_Silent_p.D917D|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GCTCCACAATGTCACCTGAAG	0.498																																																	0			15											71.0	70.0	70.0					15																	81625315		1951	4146	6097	79412370	SO:0001819	synonymous_variant	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2748C>T	15.37:g.81625315G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79412370		Silent	SNP	ENST00000359440.5	37	CCDS45324.1																																																																																				TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	
MEF2A	4205	hgsc.bcm.edu	37	15	100211780	100211780	+	Missense_Mutation	SNP	A	A	G	rs201205600		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr15:100211780A>G	ENST00000354410.5	+	5	943	c.314A>G	c.(313-315)tAt>tGt	p.Y105C	MEF2A_ENST00000557785.1_Intron|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000338042.6_Intron|MEF2A_ENST00000557942.1_Intron|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000453228.2_Intron	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	105					apoptotic process (GO:0006915)|cardiac conduction (GO:0061337)|cellular response to calcium ion (GO:0071277)|dendrite morphogenesis (GO:0048813)|ERK5 cascade (GO:0070375)|heart development (GO:0007507)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|mitochondrial genome maintenance (GO:0000002)|mitochondrion distribution (GO:0048311)|muscle cell differentiation (GO:0042692)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac myofibril assembly (GO:0055005)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)	p.Y105C(2)		endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GATACTTCATATGTGCTAACT	0.343																																																	2	Substitution - Missense(2)	prostate(1)|central_nervous_system(1)	15											60.0	51.0	54.0					15																	100211780		1833	4073	5906	98029303	SO:0001583	missense	4205				CCDS45362.1, CCDS45363.1, CCDS53978.1, CCDS58401.1	15q26	2008-02-05	2007-04-24			ENSG00000068305		"""Myocyte enhancer factors"""	6993	protein-coding gene	gene with protein product		600660				1516833	Standard	NM_005587		Approved	RSRFC4, RSRFC9	uc002bvf.3	Q02078		ENST00000354410.5:c.314A>G	15.37:g.100211780A>G	ENSP00000346389:p.Tyr105Cys	Somatic		Capture	Illumina HiSeq	Phase_I	98029303	B4DFQ7|F6XG23|O43814|Q14223|Q14224|Q59GX4|Q7Z6C9|Q96D14	Missense_Mutation	SNP	ENST00000354410.5	37	CCDS45362.1	.	.	.	.	.	.	.	.	.	.	A	19.84	3.902360	0.72754	.	.	ENSG00000068305	ENST00000354410	T	0.65364	-0.15	5.42	5.42	0.78866	Holliday junction regulator protein family C-terminal repeat (1);	0.336013	0.36628	N	0.002491	T	0.77505	0.4140	M	0.76574	2.34	0.80722	D	1	P;P	0.47910	0.902;0.881	P;P	0.62014	0.897;0.804	T	0.78720	-0.2094	10	0.51188	T	0.08	-12.8212	15.739	0.77870	1.0:0.0:0.0:0.0	.	105;105	Q02078;Q02078-5	MEF2A_HUMAN;.	C	105	ENSP00000346389:Y105C	ENSP00000346389:Y105C	Y	+	2	0	MEF2A	98029303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.910000	0.92685	2.184000	0.69523	0.379000	0.24179	TAT		MEF2A-001	KNOWN	overlapping_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000415980.1		
WWC3	55841	hgsc.bcm.edu	37	X	10106966	10106966	+	Missense_Mutation	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chrX:10106966C>A	ENST00000380861.4	+	21	3465	c.3074C>A	c.(3073-3075)gCc>gAc	p.A1025D	WWC3_ENST00000454666.1_Missense_Mutation_p.A1025D	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1025					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTGCGGGAGGCCGAGCGGCAG	0.716																																																	0			X											10.0	10.0	10.0					X																	10106966		2147	4169	6316	10066966	SO:0001583	missense	55841			AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.3074C>A	X.37:g.10106966C>A	ENSP00000370242:p.Ala1025Asp	Somatic		Capture	Illumina HiSeq	Phase_I	10066966	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	37	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379977	0.82682	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543412	T;T	0.49432	0.78;0.78	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.71492	0.3346	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75207	-0.3399	9	.	.	.	-20.0608	17.361	0.87350	0.0:1.0:0.0:0.0	.	1025	Q9ULE0	WWC3_HUMAN	D	1025;1025;520	ENSP00000370242:A1025D;ENSP00000399584:A1025D	.	A	+	2	0	WWC3	10066966	1.000000	0.71417	0.918000	0.36340	0.541000	0.35023	5.562000	0.67346	2.370000	0.80446	0.529000	0.55759	GCC		WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
PHEX	5251	hgsc.bcm.edu	37	X	22108571	22108571	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chrX:22108571G>A	ENST00000379374.4	+	6	1253	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	PHEX_ENST00000537599.1_Missense_Mutation_p.A230T|PHEX_ENST00000535894.1_Missense_Mutation_p.A133T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	230					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ACTCTCCCTGGCCGTGAGGGA	0.423																																																	0			X											133.0	100.0	111.0					X																	22108571		2203	4300	6503	22018492	SO:0001583	missense	5251			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.688G>A	X.37:g.22108571G>A	ENSP00000368682:p.Ala230Thr	Somatic		Capture	Illumina HiSeq	Phase_I	22018492	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298610	0.60195	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894	D;D;D	0.82167	-1.58;-1.58;-1.58	5.78	5.78	0.91487	Peptidase M13 (1);	0.165679	0.56097	D	0.000036	T	0.66046	0.2750	N	0.02011	-0.69	0.80722	D	1	B;B	0.27013	0.137;0.166	B;B	0.31946	0.058;0.138	T	0.69450	-0.5142	10	0.87932	D	0	.	13.2379	0.59979	0.0:0.0:0.6834:0.3166	.	230;230	F5GXU4;P78562	.;PHEX_HUMAN	T	230;230;133	ENSP00000368682:A230T;ENSP00000440362:A230T;ENSP00000439418:A133T	ENSP00000368682:A230T	A	+	1	0	PHEX	22018492	0.875000	0.30112	0.959000	0.39883	0.964000	0.63967	1.631000	0.37092	2.429000	0.82318	0.513000	0.50165	GCC		PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
OTC	5009	hgsc.bcm.edu	37	X	38211975	38211975	+	Nonsense_Mutation	SNP	T	T	A	rs72552297		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chrX:38211975T>A	ENST00000039007.4	+	1	178	c.26T>A	c.(25-27)tTa>tAa	p.L9*	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	9					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	AGGATCCTGTTAAACAATGCA	0.418																																																	0			X	GRCh37	CM065362	OTC	M							154.0	126.0	136.0					X																	38211975		2202	4300	6502	38096919	SO:0001587	stop_gained	5009			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.26T>A	X.37:g.38211975T>A	ENSP00000039007:p.Leu9*	Somatic		Capture	Illumina HiSeq	Phase_I	38096919	A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Nonsense_Mutation	SNP	ENST00000039007.4	37	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	T	37	6.390867	0.97529	.	.	ENSG00000036473	ENST00000039007	.	.	.	5.77	5.77	0.91146	.	0.570391	0.17778	N	0.162330	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6709	11.3138	0.49379	0.0:0.0:0.0:1.0	.	.	.	.	X	9	.	ENSP00000039007:L9X	L	+	2	0	OTC	38096919	0.998000	0.40836	0.940000	0.37924	0.644000	0.38419	4.046000	0.57376	1.944000	0.56390	0.486000	0.48141	TTA		OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
SMARCA1	6594	hgsc.bcm.edu	37	X	128614769	128614769	+	Missense_Mutation	SNP	G	G	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chrX:128614769G>C	ENST00000371122.4	-	19	2480	c.2351C>G	c.(2350-2352)cCa>cGa	p.P784R	SMARCA1_ENST00000371121.3_Missense_Mutation_p.P772R|SMARCA1_ENST00000371123.1_Missense_Mutation_p.P772R	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	784					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						CTGAACATTTGGCTGTTTTGG	0.343																																																	0			X											62.0	62.0	62.0					X																	128614769		2203	4300	6503	128442450	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.2351C>G	X.37:g.128614769G>C	ENSP00000360163:p.Pro784Arg	Somatic		Capture	Illumina HiSeq	Phase_I	128442450	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392400	0.62066	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.84	5.15	5.15	0.70609	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.64402	D	0.000010	D	0.96253	0.8778	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.992;0.996	D	0.95707	0.8754	10	0.25751	T	0.34	-7.3753	17.7545	0.88445	0.0:0.0:1.0:0.0	.	763;784;772;784	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	R	772;772;784;763	ENSP00000360162:P772R;ENSP00000360164:P772R;ENSP00000360163:P784R;ENSP00000404275:P763R	ENSP00000360162:P772R	P	-	2	0	SMARCA1	128442450	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.804000	0.99143	2.123000	0.65237	0.468000	0.43344	CCA		SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
MFSD7	84179	hgsc.bcm.edu	37	4	678565	678565	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:678565C>T	ENST00000404286.2	-	5	681	c.666G>A	c.(664-666)ccG>ccA	p.P222P	MFSD7_ENST00000347950.5_Silent_p.P103P|MFSD7_ENST00000515118.1_Silent_p.P125P|MFSD7_ENST00000503156.1_Silent_p.P158P|MFSD7_ENST00000322224.4_Silent_p.P222P|MFSD7_ENST00000513740.1_5'Flank	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	222					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGCAGAGGGCGGGGTGGGGG	0.662																																																	0			4											21.0	27.0	25.0					4																	678565		2196	4287	6483	668565	SO:0001819	synonymous_variant	84179			AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.666G>A	4.37:g.678565C>T		Somatic		Capture	Illumina HiSeq	Phase_I	668565	A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Silent	SNP	ENST00000404286.2	37																																																																																					MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	NM_032219	
FAM193A	8603	hgsc.bcm.edu	37	4	2698260	2698260	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:2698260C>T	ENST00000324666.5	+	16	2925	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	FAM193A_ENST00000545951.1_Silent_p.S858S|FAM193A_ENST00000382839.3_Silent_p.S858S|FAM193A_ENST00000505311.1_Silent_p.S858S|FAM193A_ENST00000502458.1_Silent_p.S880S	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	858								p.S858S(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TAAATAGCTCCGAAACCAAAC	0.512																																																	1	Substitution - coding silent(1)	ovary(1)	4											101.0	95.0	97.0					4																	2698260		2203	4300	6503	2668058	SO:0001819	synonymous_variant	0			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2574C>T	4.37:g.2698260C>T		Somatic		Capture	Illumina HiSeq	Phase_I	2668058	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Silent	SNP	ENST00000324666.5	37	CCDS58875.1																																																																																				FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
GPR125	166647	hgsc.bcm.edu	37	4	22463424	22463424	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:22463424G>A	ENST00000334304.5	-	3	606	c.337C>T	c.(337-339)Cga>Tga	p.R113*	GPR125_ENST00000502482.1_Nonsense_Mutation_p.R113*	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	113					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGATTGTTTCGGAGGTCCCTG	0.338																																																	0			4											59.0	62.0	61.0					4																	22463424		2203	4300	6503	22072522	SO:0001587	stop_gained	166647			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.337C>T	4.37:g.22463424G>A	ENSP00000334952:p.Arg113*	Somatic		Capture	Illumina HiSeq	Phase_I	22072522	Q6UXK9|Q86SQ5|Q8TC55	Nonsense_Mutation	SNP	ENST00000334304.5	37	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	G	39	7.533284	0.98342	.	.	ENSG00000152990	ENST00000334304;ENST00000502482	.	.	.	5.71	4.79	0.61399	.	0.054599	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.2018	10.5153	0.44885	0.0:0.0:0.7165:0.2835	.	.	.	.	X	113	.	ENSP00000334952:R113X	R	-	1	2	GPR125	22072522	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.414000	0.52693	2.709000	0.92574	0.655000	0.94253	CGA		GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3		
FIP1L1	81608	hgsc.bcm.edu	37	4	54256783	54256783	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:54256783T>C	ENST00000337488.6	+	7	687	c.493T>C	c.(493-495)Tgg>Cgg	p.W165R	FIP1L1_ENST00000507922.1_Missense_Mutation_p.W150R|FIP1L1_ENST00000306932.6_Missense_Mutation_p.W150R|FIP1L1_ENST00000358575.5_Missense_Mutation_p.W150R|FIP1L1_ENST00000507166.1_Missense_Mutation_p.W165R	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	165	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.W165R(1)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGATAAACCATGGCGTAAACC	0.323			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	1	Substitution - Missense(1)	ovary(1)	4											96.0	95.0	95.0					4																	54256783		2203	4300	6503	53951540	SO:0001583	missense	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.493T>C	4.37:g.54256783T>C	ENSP00000336752:p.Trp165Arg	Somatic		Capture	Illumina HiSeq	Phase_I	53951540	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	37	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750677	0.69533	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	D	0.99748	-6.62	5.43	5.43	0.79202	Pre-mRNA polyadenylation factor Fip1 (1);	0.000000	0.64402	D	0.000004	D	0.99816	0.9919	H	0.96430	3.82	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;1.0;1.0	D;D;D;D	0.97110	0.999;0.991;1.0;1.0	D	0.96749	0.9552	9	.	.	.	-5.8529	15.4589	0.75339	0.0:0.0:0.0:1.0	.	150;150;165;150	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	R	165;150;150;150;165	ENSP00000423325:W165R	.	W	+	1	0	FIP1L1	53951540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.662000	0.83803	2.048000	0.60808	0.482000	0.46254	TGG		FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	
AASDH	132949	hgsc.bcm.edu	37	4	57220881	57220881	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:57220881T>G	ENST00000205214.6	-	7	1380	c.1200A>C	c.(1198-1200)caA>caC	p.Q400H	AASDH_ENST00000513376.1_Missense_Mutation_p.Q300H|AASDH_ENST00000502617.1_Missense_Mutation_p.Q400H|AASDH_ENST00000602986.1_Missense_Mutation_p.Q247H|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000510762.1_5'Flank|AASDH_ENST00000451613.1_Missense_Mutation_p.Q400H	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	400					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTAAAAATACTTGGCCACTGC	0.333																																																	0			4											98.0	105.0	102.0					4																	57220881		2203	4300	6503	56915638	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1200A>C	4.37:g.57220881T>G	ENSP00000205214:p.Gln400His	Somatic		Capture	Illumina HiSeq	Phase_I	56915638	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891235	0.72524	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.27	5.27	0.74061	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.64170	0.2574	M	0.72894	2.215	0.50039	D	0.999844	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.976;0.991;0.981;0.997	T	0.68550	-0.5379	10	0.87932	D	0	-13.7308	15.1804	0.72952	0.0:0.0:0.0:1.0	.	247;400;400;400	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	H	400;300;400;247;400	ENSP00000205214:Q400H;ENSP00000423760:Q300H;ENSP00000409656:Q400H;ENSP00000421171:Q400H	ENSP00000205214:Q400H	Q	-	3	2	AASDH	56915638	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.762000	0.47597	1.988000	0.58038	0.477000	0.44152	CAA		AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
DSPP	1834	hgsc.bcm.edu	37	4	88537383	88537383	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:88537383G>T	ENST00000282478.7	+	4	3602	c.3569G>T	c.(3568-3570)aGt>aTt	p.S1190I	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.S1190I			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1190	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		agtgatagcagtgacagcagc	0.567																																																	0			4											49.0	68.0	61.0					4																	88537383		1632	2904	4536	88756407	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3569G>T	4.37:g.88537383G>T	ENSP00000282478:p.Ser1190Ile	Somatic		Capture	Illumina HiSeq	Phase_I	88756407	A8MUI0|O95815	Missense_Mutation	SNP	ENST00000282478.7	37	CCDS43248.1	.	.	.	.	.	.	.	.	.	.	g	0.852	-0.738394	0.03111	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88664	-2.41;-2.41	2.5	1.64	0.23874	.	.	.	.	.	D	0.85133	0.5627	L	0.34521	1.04	0.19300	N	0.999979	P	0.42518	0.782	P	0.49332	0.607	T	0.74222	-0.3735	9	0.40728	T	0.16	7.0E-4	5.294	0.15743	0.1691:0.0:0.8309:0.0	.	1190	Q9NZW4	DSPP_HUMAN	I	1190	ENSP00000382213:S1190I;ENSP00000282478:S1190I	ENSP00000282478:S1190I	S	+	2	0	DSPP	88756407	0.019000	0.18553	0.573000	0.28510	0.016000	0.09150	0.779000	0.26746	0.621000	0.30232	0.298000	0.19748	AGT		DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
BMPR1B	658	hgsc.bcm.edu	37	4	96051102	96051102	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:96051102C>T	ENST00000515059.1	+	9	958	c.675C>T	c.(673-675)ggC>ggT	p.G225G	BMPR1B_ENST00000440890.2_Silent_p.G255G|BMPR1B_ENST00000264568.4_Silent_p.G225G|BMPR1B_ENST00000394931.1_Silent_p.G225G	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				BMP signaling pathway (GO:0030509)|cartilage condensation (GO:0001502)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|eye development (GO:0001654)|inflammatory response (GO:0006954)|limb morphogenesis (GO:0035108)|ovarian cumulus expansion (GO:0001550)|ovulation cycle (GO:0042698)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell differentiation (GO:0045597)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|skeletal system development (GO:0001501)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta receptor activity, type I (GO:0005025)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		AGTGGCGTGGCGAAAAGGTAG	0.448																																																	0			4											153.0	159.0	157.0					4																	96051102		2203	4300	6503	96270125	SO:0001819	synonymous_variant	658			D89675	CCDS3642.1, CCDS58919.1	4q23-q24	2008-02-05			ENSG00000138696	ENSG00000138696		"""CD molecules"""	1077	protein-coding gene	gene with protein product		603248				8140412, 9730621	Standard	NM_001203		Approved	ALK6, CDw293	uc031sgn.1	O00238	OTTHUMG00000130991	ENST00000515059.1:c.675C>T	4.37:g.96051102C>T		Somatic		Capture	Illumina HiSeq	Phase_I	96270125	B2R953|B4DSV1|P78366	Silent	SNP	ENST00000515059.1	37	CCDS3642.1																																																																																				BMPR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253609.3	NM_001203	
KIAA1109	84162	hgsc.bcm.edu	37	4	123132181	123132181	+	Silent	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:123132181A>G	ENST00000264501.4	+	20	2551	c.2178A>G	c.(2176-2178)gaA>gaG	p.E726E	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Silent_p.E726E|KIAA1109_ENST00000388738.3_Silent_p.E726E			Q2LD37	K1109_HUMAN	KIAA1109	726					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCATGTAGAAATGGAACTTT	0.383																																																	0			4											100.0	91.0	94.0					4																	123132181		1830	4087	5917	123351631	SO:0001819	synonymous_variant	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2178A>G	4.37:g.123132181A>G		Somatic		Capture	Illumina HiSeq	Phase_I	123351631	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	A	8.965	0.971449	0.18736	.	.	ENSG00000138688	ENST00000424425	.	.	.	4.97	0.989	0.19802	.	.	.	.	.	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52764	-0.8532	4	.	.	.	.	10.0526	0.42225	0.6477:0.0:0.3523:0.0	.	.	.	.	D	559	.	.	N	+	1	0	KIAA1109	123351631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.352000	0.34033	0.294000	0.22547	0.477000	0.44152	AAT		KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
MMAA	166785	hgsc.bcm.edu	37	4	146575149	146575149	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr4:146575149A>G	ENST00000281317.5	+	6	2033	c.823A>G	c.(823-825)Atc>Gtc	p.I275V	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	275					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTTTAGGGTATCAAAAGGGG	0.368																																																	0			4											181.0	179.0	180.0					4																	146575149		2203	4300	6503	146794599	SO:0001583	missense	387254			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.823A>G	4.37:g.146575149A>G	ENSP00000281317:p.Ile275Val	Somatic		Capture	Illumina HiSeq	Phase_I	146794599	B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775749	0.70107	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.90788	-2.73	5.78	5.78	0.91487	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.89248	0.6661	L	0.53671	1.685	0.80722	D	1	B	0.33448	0.412	B	0.35931	0.214	D	0.88194	0.2879	10	0.45353	T	0.12	-13.1358	16.1215	0.81361	1.0:0.0:0.0:0.0	.	275	Q8IVH4	MMAA_HUMAN	V	275	ENSP00000281317:I275V	ENSP00000281317:I275V	I	+	1	0	MMAA	146794599	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	8.923000	0.92808	2.208000	0.71279	0.528000	0.53228	ATC		MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2		
APOB	338	hgsc.bcm.edu	37	2	21229068	21229068	+	Missense_Mutation	SNP	G	G	A	rs12713559		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:21229068G>A	ENST00000233242.1	-	26	10799	c.10672C>T	c.(10672-10674)Cgc>Tgc	p.R3558C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3558			R -> C (in FDB; dbSNP:rs12713559). {ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}.		artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAATATATGCGTTGGAGTGTG	0.463													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20702	0.0		0.0	False		,,,				2504	0.0																0			2	GRCh37	CM950076	APOB	M	rs12713559	G	CYS/ARG	3,4403	6.2+/-15.9	0,3,2200	67.0	69.0	68.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	10672	5.8	0.9	2	dbSNP_126	68	8,8592	7.1+/-27.0	0,8,4292	yes	missense	APOB	NM_000384.2	180	0,11,6492	AA,AG,GG		0.093,0.0681,0.0846	probably-damaging	3558/4564	21229068	11,12995	2203	4300	6503	21082573	SO:0001583	missense	338			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.10672C>T	2.37:g.21229068G>A	ENSP00000233242:p.Arg3558Cys	Somatic		Capture	Illumina HiSeq	Phase_I	21082573	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	22.5	4.304485	0.81136	6.81E-4	9.3E-4	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.79845	-1.31	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000016	D	0.90480	0.7018	M	0.77616	2.38	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90681	0.4605	9	0.87932	D	0	.	20.1731	0.98165	0.0:0.0:1.0:0.0	rs12713559;rs17241062;rs52821409;rs58474560;rs12713559	3558	P04114	APOB_HUMAN	C	3558	ENSP00000233242:R3558C	ENSP00000233242:R3558C	R	-	1	0	APOB	21082573	1.000000	0.71417	0.933000	0.37362	0.533000	0.34776	7.933000	0.87642	2.768000	0.95171	0.655000	0.94253	CGC		APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
ASXL2	55252	hgsc.bcm.edu	37	2	25982386	25982386	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:25982386G>A	ENST00000435504.4	-	9	1197	c.904C>T	c.(904-906)Cga>Tga	p.R302*	ASXL2_ENST00000404843.1_Nonsense_Mutation_p.R42*|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.R274*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.R42*			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	302					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAAGCAGTCGTTGCTGGCAA	0.413																																																	0			2											196.0	185.0	188.0					2																	25982386		1916	4142	6058	25835890	SO:0001587	stop_gained	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.904C>T	2.37:g.25982386G>A	ENSP00000391447:p.Arg302*	Somatic		Capture	Illumina HiSeq	Phase_I	25835890	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Nonsense_Mutation	SNP	ENST00000435504.4	37		.	.	.	.	.	.	.	.	.	.	G	45	11.879899	0.99613	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	.	.	.	5.73	3.81	0.43845	.	0.068975	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4682	13.4983	0.61438	0.0:0.0:0.7167:0.2833	.	.	.	.	X	302;274;42;42	.	ENSP00000272341:R42X	R	-	1	2	ASXL2	25835890	1.000000	0.71417	0.998000	0.56505	0.931000	0.56810	1.831000	0.39141	1.407000	0.46875	0.650000	0.86243	CGA		ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
ALK	238	hgsc.bcm.edu	37	2	29940447	29940447	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:29940447A>G	ENST00000389048.3	-	2	1690	c.784T>C	c.(784-786)Tat>Cat	p.Y262H	ALK_ENST00000431873.1_Missense_Mutation_p.Y262H	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	262					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TACTTACCATATCGGCTGCGA	0.398			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0			2											103.0	96.0	99.0					2																	29940447		2203	4300	6503	29793951	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.784T>C	2.37:g.29940447A>G	ENSP00000373700:p.Tyr262His	Somatic		Capture	Illumina HiSeq	Phase_I	29793951	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414367	0.42817	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.10960	4.47;2.82	5.4	5.4	0.78164	Concanavalin A-like lectin/glucanase (1);	.	.	.	.	T	0.07503	0.0189	N	0.24115	0.695	0.30757	N	0.744502	B	0.17852	0.024	B	0.18263	0.021	T	0.14839	-1.0458	8	.	.	.	.	7.8259	0.29315	0.9024:0.0:0.0976:0.0	.	262	Q9UM73	ALK_HUMAN	H	262	ENSP00000373700:Y262H;ENSP00000414027:Y262H	.	Y	-	1	0	ALK	29793951	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.832000	0.55783	2.163000	0.67991	0.533000	0.62120	TAT		ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
PUS10	150962	hgsc.bcm.edu	37	2	61180216	61180216	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:61180216T>C	ENST00000316752.6	-	15	1485	c.1224A>G	c.(1222-1224)gaA>gaG	p.E408E	PUS10_ENST00000407787.1_Silent_p.E408E	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	408					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TTGTCTTTTCTTCTTCACCTT	0.318																																																	0			2											286.0	268.0	274.0					2																	61180216		2203	4300	6503	61033720	SO:0001819	synonymous_variant	150962			AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1224A>G	2.37:g.61180216T>C		Somatic		Capture	Illumina HiSeq	Phase_I	61033720	Q5JPJ5|Q96MI8	Silent	SNP	ENST00000316752.6	37	CCDS1865.1																																																																																				PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709	
BMP10	27302	hgsc.bcm.edu	37	2	69093516	69093517	+	Missense_Mutation	DNP	TT	TT	CC			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:69093516_69093517TT>CC	ENST00000295379.1	-	2	679_680	c.521_522AA>GG	c.(520-522)aAA>aGG	p.K174R		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	174					activin receptor signaling pathway (GO:0032924)|adult heart development (GO:0007512)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|heart trabecula formation (GO:0060347)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction (GO:0055117)|sarcomere organization (GO:0045214)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Z disc (GO:0030018)	hormone activity (GO:0005179)|receptor serine/threonine kinase binding (GO:0033612)	p.K174N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CATTATCCCCTTTGCTCTCCAG	0.446																																																	1	Substitution - Missense(1)	ovary(1)	2																																								68947020|68947021	SO:0001583	missense	27302			AF101441	CCDS1890.1	2p13.2	2014-09-17			ENSG00000163217	ENSG00000163217		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	20869	protein-coding gene	gene with protein product		608748				10072785	Standard	NM_014482		Approved		uc002sez.1	O95393	OTTHUMG00000129573	ENST00000295379.1:c.521_522delinsCC	2.37:g.69093516_69093517delinsCC	ENSP00000295379:p.Lys174Arg	Somatic		Capture	Illumina HiSeq	Phase_I	68947020|68947021	Q53R17|Q6NTE0	Silent|Missense_Mutation	SNP	ENST00000295379.1	37	CCDS1890.1																																																																																				BMP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251768.1	NM_014482	
GMCL1	64395	hgsc.bcm.edu	37	2	70081985	70081985	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:70081985A>G	ENST00000282570.3	+	9	1216	c.965A>G	c.(964-966)gAa>gGa	p.E322G		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	322					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)	nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						CTTGAAACTGAACAAGGAAAA	0.318																																																	0			2											76.0	78.0	77.0					2																	70081985		2203	4293	6496	69935489	SO:0001583	missense	64395			AK023119	CCDS1895.1	2p13.3	2013-01-09	2012-08-20		ENSG00000087338	ENSG00000087338		"""BTB/POZ domain containing"""	23843	protein-coding gene	gene with protein product	"""spermatogenesis associated 29"""		"""germ cell-less homolog 1 (Drosophila)"""				Standard	NM_178439		Approved	FLJ13057, BTBD13, GCL1, SPATA29	uc002sfu.3	Q96IK5	OTTHUMG00000129643	ENST00000282570.3:c.965A>G	2.37:g.70081985A>G	ENSP00000282570:p.Glu322Gly	Somatic		Capture	Illumina HiSeq	Phase_I	69935489	Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212980	0.58452	.	.	ENSG00000087338	ENST00000282570	T	0.56941	0.43	4.87	4.87	0.63330	.	0.166067	0.52532	D	0.000070	T	0.50137	0.1598	L	0.59436	1.845	0.52501	D	0.999959	B	0.27932	0.194	B	0.29524	0.103	T	0.54227	-0.8325	10	0.62326	D	0.03	-7.5524	12.459	0.55721	1.0:0.0:0.0:0.0	.	322	Q96IK5	GMCL1_HUMAN	G	322	ENSP00000282570:E322G	ENSP00000282570:E322G	E	+	2	0	GMCL1	69935489	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.641000	0.61375	2.042000	0.60477	0.528000	0.53228	GAA		GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439	
CLEC4F	165530	hgsc.bcm.edu	37	2	71043820	71043820	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:71043820G>A	ENST00000272367.2	-	4	769	c.693C>T	c.(691-693)gcC>gcT	p.A231A	CLEC4F_ENST00000426626.1_Silent_p.A231A	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	231					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTTCCAAACTGGCATTCAACA	0.403																																					Colon(107;10 2157 6841 26035)												0			2											79.0	76.0	77.0					2																	71043820		2203	4300	6503	70897328	SO:0001819	synonymous_variant	165530			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.693C>T	2.37:g.71043820G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70897328	A4QPA5	Silent	SNP	ENST00000272367.2	37	CCDS1910.1																																																																																				CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535	
SLC4A5	57835	hgsc.bcm.edu	37	2	74531799	74531799	+	Missense_Mutation	SNP	G	G	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:74531799G>T	ENST00000377634.4	-	7	487	c.88C>A	c.(88-90)Cct>Act	p.P30T	SLC4A5_ENST00000357822.5_Missense_Mutation_p.P30T|SLC4A5_ENST00000358683.4_Intron|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P30T|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P30T|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P30T|SLC4A5_ENST00000483195.1_Intron|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P30T|SLC4A5_ENST00000359484.4_Intron					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.P30T(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGTGGATAGGAGGGCATTCT	0.488																																																	1	Substitution - Missense(1)	ovary(1)	2											62.0	62.0	62.0					2																	74531799		2203	4300	6503	74385307	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.88C>A	2.37:g.74531799G>T	ENSP00000366861:p.Pro30Thr	Somatic		Capture	Illumina HiSeq	Phase_I	74385307		Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	2.559	-0.302379	0.05495	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000423644;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249;ENST00000444570;ENST00000436454	T;T;T;T;T;T;T	0.75589	-0.95;-0.76;-0.4;-0.95;-0.76;-0.95;-0.12	4.93	1.21	0.21127	.	0.187555	0.47455	D	0.000237	T	0.29491	0.0735	N	0.00462	-1.47	0.09310	N	0.999999	B;B;B;B	0.14012	0.002;0.002;0.009;0.002	B;B;B;B	0.13407	0.006;0.004;0.009;0.006	T	0.43180	-0.9407	10	0.02654	T	1	.	3.818	0.08824	0.6112:0.1869:0.2018:0.0	.	30;30;30;30	Q9BY07-4;E7EQT3;Q9BY07;Q9BY07-3	.;.;S4A5_HUMAN;.	T	30	ENSP00000377587:P30T;ENSP00000251768:P30T;ENSP00000395804:P30T;ENSP00000350475:P30T;ENSP00000366859:P30T;ENSP00000366861:P30T;ENSP00000405678:P30T	ENSP00000251768:P30T	P	-	1	0	SLC4A5	74385307	0.957000	0.32711	0.523000	0.27875	0.052000	0.14988	1.080000	0.30779	0.115000	0.18071	-0.484000	0.04775	CCT		SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
DDX18	8886	hgsc.bcm.edu	37	2	118579562	118579562	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:118579562T>C	ENST00000263239.2	+	6	1004	c.876T>C	c.(874-876)tcT>tcC	p.S292S	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	292	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTAACAGATCTGCTGAAGCAC	0.473																																																	0			2											133.0	125.0	128.0					2																	118579562		2203	4300	6503	118296032	SO:0001819	synonymous_variant	8886			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.876T>C	2.37:g.118579562T>C		Somatic		Capture	Illumina HiSeq	Phase_I	118296032	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	CCDS2120.1																																																																																				DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3	NM_006773	
OSBPL6	114880	hgsc.bcm.edu	37	2	179170934	179170934	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:179170934T>C	ENST00000190611.4	+	3	399	c.23T>C	c.(22-24)aTt>aCt	p.I8T	OSBPL6_ENST00000392505.2_Missense_Mutation_p.I8T|OSBPL6_ENST00000409631.1_Missense_Mutation_p.I8T|OSBPL6_ENST00000359685.3_Missense_Mutation_p.I8T|OSBPL6_ENST00000357080.4_Missense_Mutation_p.I8T|OSBPL6_ENST00000409045.3_Missense_Mutation_p.I8T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	8					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGAAGGGCATTTCCCCTGCT	0.448																																																	0			2											163.0	138.0	147.0					2																	179170934		2203	4300	6503	178879180	SO:0001583	missense	114880			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.23T>C	2.37:g.179170934T>C	ENSP00000190611:p.Ile8Thr	Somatic		Capture	Illumina HiSeq	Phase_I	178879180	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.963456	0.53507	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631	T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83	5.87	5.87	0.94306	.	0.505476	0.16012	U	0.233763	T	0.27313	0.0670	N	0.03608	-0.345	0.41354	D	0.987381	B;B;B;B;B	0.22683	0.03;0.02;0.073;0.018;0.073	B;B;B;B;B	0.21917	0.037;0.034;0.033;0.01;0.025	T	0.17745	-1.0359	10	0.18276	T	0.48	-6.8914	15.5573	0.76208	0.0:0.0:0.0:1.0	.	8;8;8;8;8	Q9BZF3-4;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;OSBL6_HUMAN;.	T	8	ENSP00000376293:I8T;ENSP00000352713:I8T;ENSP00000349591:I8T;ENSP00000387248:I8T;ENSP00000190611:I8T;ENSP00000386885:I8T	ENSP00000190611:I8T	I	+	2	0	OSBPL6	178879180	1.000000	0.71417	0.935000	0.37517	0.979000	0.70002	3.877000	0.56123	2.371000	0.80710	0.533000	0.62120	ATT		OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	
TTN	7273	hgsc.bcm.edu	37	2	179438325	179438325	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:179438325T>C	ENST00000591111.1	-	276	67835	c.67611A>G	c.(67609-67611)caA>caG	p.Q22537Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.Q15305Q|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.Q15113Q|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.Q15238Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.Q24178Q|TTN_ENST00000342992.6_Silent_p.Q21610Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22537	Fibronectin type-III 63. {ECO:0000255|PROSITE-ProRule:PRU00316}.		Q -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q15113H(2)|p.Q15305H(1)|p.Q21608H(1)|p.Q15238H(1)|p.Q21610H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTTGTTACTTGGACTTCTG	0.423																																																	6	Substitution - Missense(6)	lung(5)|stomach(1)	2											281.0	277.0	278.0					2																	179438325		1937	4134	6071	179146571	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.67611A>G	2.37:g.179438325T>C		Somatic		Capture	Illumina HiSeq	Phase_I	179146571	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																																																																																					TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179474937	179474937	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:179474937A>G	ENST00000591111.1	-	221	46617	c.46393T>C	c.(46393-46395)Tgg>Cgg	p.W15465R	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W8233R|TTN_ENST00000460472.2_Missense_Mutation_p.W8041R|TTN_ENST00000359218.5_Missense_Mutation_p.W8166R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W17106R|TTN_ENST00000342992.6_Missense_Mutation_p.W14538R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15465	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TTCACAGTCCATGACAGTTTG	0.423																																																	0			2											183.0	180.0	181.0					2																	179474937		1943	4140	6083	179183182	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.46393T>C	2.37:g.179474937A>G	ENSP00000465570:p.Trp15465Arg	Somatic		Capture	Illumina HiSeq	Phase_I	179183182	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		.	.	.	.	.	.	.	.	.	.	A	13.26	2.182687	0.38511	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56611	0.45;0.45;0.45;0.45	5.48	5.48	0.80851	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70272	0.3205	M	0.63843	1.955	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73672	-0.3909	9	0.87932	D	0	.	15.5783	0.76410	1.0:0.0:0.0:0.0	.	8041;8166;8233;15465	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	R	14538;8041;8233;8166;8041	ENSP00000343764:W14538R;ENSP00000434586:W8041R;ENSP00000340554:W8233R;ENSP00000352154:W8166R	ENSP00000340554:W8233R	W	-	1	0	TTN	179183182	1.000000	0.71417	0.987000	0.45799	0.958000	0.62258	7.384000	0.79751	2.081000	0.62600	0.533000	0.62120	TGG		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179623847	179623847	+	Missense_Mutation	SNP	G	G	T	rs267599082		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:179623847G>T	ENST00000591111.1	-	44	10391	c.10167C>A	c.(10165-10167)ttC>ttA	p.F3389L	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.F3389L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F3343L|TTN_ENST00000460472.2_Missense_Mutation_p.F3343L|TTN_ENST00000359218.5_Missense_Mutation_p.F3343L|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F3389L|TTN_ENST00000342992.6_Missense_Mutation_p.F3389L|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13707	Ig-like 20.				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)			TCATTCTAAAGAACCGAGATG	0.383																																																	0			2											136.0	119.0	124.0					2																	179623847		2203	4300	6503	179332092	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.10167C>A	2.37:g.179623847G>T	ENSP00000465570:p.Phe3389Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179332092	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		.	.	.	.	.	.	.	.	.	.	G	16.10	3.028214	0.54790	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.92	5.92	0.95590	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76933	0.4057	L	0.58510	1.815	0.31244	N	0.694855	P;P;P;P;D	0.61697	0.9;0.9;0.9;0.9;0.99	P;P;P;P;P	0.59424	0.493;0.493;0.493;0.493;0.857	T	0.78671	-0.2113	9	0.87932	D	0	.	15.4039	0.74863	0.068:0.0:0.932:0.0	.	3343;3343;3343;3389;3389	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	3389;3343;3343;3343;3343;3389	ENSP00000343764:F3389L;ENSP00000434586:F3343L;ENSP00000340554:F3343L;ENSP00000352154:F3343L;ENSP00000354117:F3389L	ENSP00000340554:F3343L	F	-	3	2	TTN	179332092	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.675000	0.61619	2.804000	0.96469	0.655000	0.94253	TTC		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZDBF2	57683	hgsc.bcm.edu	37	2	207172850	207172850	+	Missense_Mutation	SNP	A	A	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:207172850A>C	ENST00000374423.3	+	5	3984	c.3598A>C	c.(3598-3600)Agt>Cgt	p.S1200R		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1200							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCTGAAGTAAGTTTTGATTC	0.423																																																	0			2											96.0	92.0	93.0					2																	207172850		1910	4138	6048	206881095	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3598A>C	2.37:g.207172850A>C	ENSP00000363545:p.Ser1200Arg	Somatic		Capture	Illumina HiSeq	Phase_I	206881095	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.881078	0.72294	.	.	ENSG00000204186	ENST00000374423	T	0.55588	0.51	4.1	4.1	0.47936	.	.	.	.	.	T	0.58921	0.2156	L	0.55990	1.75	0.28743	N	0.901869	D	0.59357	0.985	P	0.53360	0.724	T	0.56420	-0.7982	9	0.72032	D	0.01	.	11.4432	0.50109	1.0:0.0:0.0:0.0	.	1200	Q9HCK1	ZDBF2_HUMAN	R	1200	ENSP00000363545:S1200R	ENSP00000363545:S1200R	S	+	1	0	ZDBF2	206881095	1.000000	0.71417	0.965000	0.40720	0.728000	0.41692	3.916000	0.56416	2.074000	0.62210	0.528000	0.53228	AGT		ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
MAP2	4133	hgsc.bcm.edu	37	2	210574917	210574917	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:210574917A>G	ENST00000360351.4	+	12	5518	c.5012A>G	c.(5011-5013)aAg>aGg	p.K1671R	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Missense_Mutation_p.K372R|MAP2_ENST00000447185.1_Missense_Mutation_p.K1667R|MAP2_ENST00000361559.4_Missense_Mutation_p.K315R|MAP2_ENST00000392194.1_Missense_Mutation_p.K315R	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1671					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CCAGACCTGAAGAATGTCAAA	0.463																																					Pancreas(27;423 979 28787 29963)												0			2											71.0	59.0	63.0					2																	210574917		2203	4300	6503	210283162	SO:0001583	missense	10988				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.5012A>G	2.37:g.210574917A>G	ENSP00000353508:p.Lys1671Arg	Somatic		Capture	Illumina HiSeq	Phase_I	210283162	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.862074	0.91511	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000392194;ENST00000447185	D;D;D;D;D	0.96168	-3.93;-3.93;-3.93;-3.93;-3.93	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000013	D	0.97611	0.9217	M	0.80183	2.485	0.80722	D	1	D;D;D;D;B	0.76494	0.999;0.998;0.992;0.999;0.236	D;D;D;D;B	0.87578	0.995;0.994;0.987;0.998;0.444	D	0.98076	1.0401	10	0.56958	D	0.05	-9.5702	15.7792	0.78246	1.0:0.0:0.0:0.0	.	1667;315;316;1671;372	P11137-3;P11137-2;Q59FX9;P11137;Q8IUX2	.;.;.;MAP2_HUMAN;.	R	372;1671;315;315;1667	ENSP00000199940:K372R;ENSP00000353508:K1671R;ENSP00000355290:K315R;ENSP00000376032:K315R;ENSP00000392164:K1667R	ENSP00000199940:K372R	K	+	2	0	MAP2	210283162	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.287000	0.95975	2.129000	0.65627	0.383000	0.25322	AAG		MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
LRRFIP1	9208	hgsc.bcm.edu	37	2	238672329	238672329	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:238672329A>G	ENST00000392000.4	+	11	2090	c.1973A>G	c.(1972-1974)cAa>cGa	p.Q658R	LRRFIP1_ENST00000289175.6_Missense_Mutation_p.Q602R|LRRFIP1_ENST00000244815.5_Missense_Mutation_p.Q634R|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	658					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAACTTGACCAAGAAGGTGAT	0.428																																																	0			2											62.0	61.0	61.0					2																	238672329		2203	4300	6503	238337068	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1973A>G	2.37:g.238672329A>G	ENSP00000375857:p.Gln658Arg	Somatic		Capture	Illumina HiSeq	Phase_I	238337068	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.691494	0.30052	.	.	ENSG00000124831	ENST00000289175;ENST00000244815;ENST00000392000	T;T;T	0.10099	2.91;2.92;2.92	4.76	-7.13	0.01532	.	2.305150	0.01807	N	0.033222	T	0.08223	0.0205	L	0.47716	1.5	0.09310	N	1	B;B;B	0.16396	0.017;0.01;0.017	B;B;B	0.15052	0.012;0.005;0.012	T	0.36163	-0.9759	10	0.46703	T	0.11	0.004	0.8364	0.01140	0.3659:0.192:0.2707:0.1714	.	602;658;634	Q32MZ4-3;Q32MZ4;Q32MZ4-2	.;LRRF1_HUMAN;.	R	602;634;658	ENSP00000289175:Q602R;ENSP00000244815:Q634R;ENSP00000375857:Q658R	ENSP00000244815:Q634R	Q	+	2	0	LRRFIP1	238337068	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	-1.218000	0.02976	-0.717000	0.04955	0.533000	0.62120	CAA		LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
VLDLR	7436	hgsc.bcm.edu	37	9	2641486	2641486	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr9:2641486T>C	ENST00000382100.3	+	4	791	c.435T>C	c.(433-435)gaT>gaC	p.D145D	VLDLR_ENST00000382099.2_Silent_p.D145D|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	145	LDL-receptor class A 3. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTGGAGAAGATGAAGAAAACT	0.463																																																	0			9											268.0	241.0	250.0					9																	2641486		2203	4300	6503	2631486	SO:0001819	synonymous_variant	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.435T>C	9.37:g.2641486T>C		Somatic		Capture	Illumina HiSeq	Phase_I	2631486	B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	ENST00000382100.3	37	CCDS6446.1																																																																																				VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051519.2	NM_003383	
ERMP1	79956	hgsc.bcm.edu	37	9	5801200	5801200	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr9:5801200C>T	ENST00000339450.5	-	11	2132	c.2043G>A	c.(2041-2043)ccG>ccA	p.P681P	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000381506.3_3'UTR|ERMP1_ENST00000543230.1_Silent_p.P259P	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	681						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.P681P(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TCTTTGGCTTCGGATTAGCAG	0.398																																																	1	Substitution - coding silent(1)	ovary(1)	9											116.0	113.0	114.0					9																	5801200		2203	4300	6503	5791200	SO:0001819	synonymous_variant	79956			AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.2043G>A	9.37:g.5801200C>T		Somatic		Capture	Illumina HiSeq	Phase_I	5791200	B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Silent	SNP	ENST00000339450.5	37	CCDS34983.1																																																																																				ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896	
PTCH1	5727	hgsc.bcm.edu	37	9	98244290	98244290	+	Silent	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr9:98244290A>G	ENST00000331920.6	-	5	986	c.687T>C	c.(685-687)atT>atC	p.I229I	PTCH1_ENST00000421141.1_Silent_p.I78I|PTCH1_ENST00000418258.1_Silent_p.I78I|PTCH1_ENST00000548379.1_5'UTR|PTCH1_ENST00000430669.2_Silent_p.I163I|PTCH1_ENST00000437951.1_Silent_p.I163I|PTCH1_ENST00000375274.2_Silent_p.I228I|PTCH1_ENST00000468211.2_Silent_p.I163I|PTCH1_ENST00000429896.2_Silent_p.I78I	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	229					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|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 (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCAAAGGTGTAATAATCAAAC	0.423																																																	0			9											83.0	76.0	78.0					9																	98244290		2203	4300	6503	97284111	SO:0001819	synonymous_variant	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.687T>C	9.37:g.98244290A>G		Somatic		Capture	Illumina HiSeq	Phase_I	97284111	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
NEK6	10783	hgsc.bcm.edu	37	9	127083759	127083759	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr9:127083759A>G	ENST00000320246.5	+	5	461	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	NEK6_ENST00000545174.1_Missense_Mutation_p.I106V|NEK6_ENST00000394199.2_Missense_Mutation_p.I140V|NEK6_ENST00000373600.3_Missense_Mutation_p.I140V|NEK6_ENST00000546191.1_Missense_Mutation_p.I106V|NEK6_ENST00000539416.1_Missense_Mutation_p.I131V|NEK6_ENST00000540326.1_Missense_Mutation_p.I124V|NEK6_ENST00000373603.1_Missense_Mutation_p.I106V	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	106	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CCCAAATATCATCAAGTATTT	0.557																																					NSCLC(122;934 1785 18647 44295 45571)												0			9											98.0	79.0	85.0					9																	127083759		2203	4300	6503	126123580	SO:0001583	missense	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.316A>G	9.37:g.127083759A>G	ENSP00000319734:p.Ile106Val	Somatic		Capture	Illumina HiSeq	Phase_I	126123580	B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	Missense_Mutation	SNP	ENST00000320246.5	37	CCDS6854.1	.	.	.	.	.	.	.	.	.	.	A	17.91	3.504861	0.64410	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000373601;ENST00000545174;ENST00000444973;ENST00000454453;ENST00000373596;ENST00000425237;ENST00000423785;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.28069	3.67;3.67;3.67;3.67;3.67;2.43;1.63;3.67;2.43;3.67;3.67;3.67;2.43;3.67;3.67	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.23370	0.0565	N	0.12471	0.22	0.58432	D	0.999999	P;P;P;P	0.43477	0.692;0.808;0.722;0.638	P;P;P;P	0.49597	0.54;0.616;0.447;0.616	T	0.03784	-1.1004	10	0.02654	T	1	.	14.5176	0.67830	1.0:0.0:0.0:0.0	.	131;140;106;124	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	V	106;124;140;106;38;106;106;38;106;106;140;140;106;106;131;106	ENSP00000362705:I106V;ENSP00000441469:I124V;ENSP00000362702:I140V;ENSP00000319734:I106V;ENSP00000442636:I106V;ENSP00000389517:I106V;ENSP00000405215:I38V;ENSP00000362698:I106V;ENSP00000403087:I106V;ENSP00000399847:I140V;ENSP00000377749:I140V;ENSP00000441426:I106V;ENSP00000411401:I106V;ENSP00000439651:I131V;ENSP00000403414:I106V	ENSP00000319734:I106V	I	+	1	0	NEK6	126123580	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	8.802000	0.91910	2.021000	0.59480	0.533000	0.62120	ATC		NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054016.1	NM_014397	
ASS1	445	hgsc.bcm.edu	37	9	133346259	133346259	+	Silent	SNP	G	G	A	rs113818350		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr9:133346259G>A	ENST00000372394.1	+	8	1015	c.534G>A	c.(532-534)ccG>ccA	p.P178P	ASS1_ENST00000352480.5_Silent_p.P178P|ASS1_ENST00000372393.3_Silent_p.P178P|ASS1_ENST00000493984.2_3'UTR			P00966	ASSY_HUMAN	argininosuccinate synthase 1	178					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCAAGAACCCGTGGAGCATGG	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18561	0.0		0.0	False		,,,				2504	0.0																0			9						G	,	1,4405	2.1+/-5.4	0,1,2202	175.0	177.0	176.0		534,534	-8.5	0.3	9	dbSNP_132	176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ASS1	NM_000050.4,NM_054012.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	178/413,178/413	133346259	1,13005	2203	4300	6503	132336080	SO:0001819	synonymous_variant	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.534G>A	9.37:g.133346259G>A		Somatic		Capture	Illumina HiSeq	Phase_I	132336080	Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	ENST00000372394.1	37	CCDS6933.1																																																																																				ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1	NM_000050	
RNF6	6049	hgsc.bcm.edu	37	13	26788761	26788761	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr13:26788761T>A	ENST00000381588.4	-	5	2010	c.1258A>T	c.(1258-1260)Aga>Tga	p.R420*	RNF6_ENST00000346166.3_Nonsense_Mutation_p.R420*|RNF6_ENST00000399762.2_Nonsense_Mutation_p.R64*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Nonsense_Mutation_p.R420*	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	420	Arg-rich.				negative regulation of axon extension (GO:0030517)|positive regulation of transcription, DNA-templated (GO:0045893)|protein K27-linked ubiquitination (GO:0044314)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	axon (GO:0030424)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GATCGAGTTCTATTTGCAATA	0.458																																																	0			13											116.0	114.0	115.0					13																	26788761		2203	4300	6503	25686761	SO:0001587	stop_gained	6049			AJ010346	CCDS9316.1	13q12.2	2013-01-09			ENSG00000127870	ENSG00000127870		"""RING-type (C3HC4) zinc fingers"""	10069	protein-coding gene	gene with protein product	"""RING-H2 protein RNF-6"""	604242				10331950	Standard	NM_005977		Approved	DKFZp686P0776	uc001uqq.3	Q9Y252	OTTHUMG00000016614	ENST00000381588.4:c.1258A>T	13.37:g.26788761T>A	ENSP00000371000:p.Arg420*	Somatic		Capture	Illumina HiSeq	Phase_I	25686761	B4DDP0|Q5W0H0|Q9BZP5|Q9UF41	Nonsense_Mutation	SNP	ENST00000381588.4	37	CCDS9316.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.678495	0.88542	.	.	ENSG00000127870	ENST00000346166;ENST00000381588;ENST00000381570;ENST00000399762	.	.	.	4.41	0.254	0.15557	.	0.124010	0.52532	D	0.000068	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.2058	13.5195	0.61559	0.0:0.0:0.5704:0.4296	.	.	.	.	X	420;420;420;64	.	ENSP00000342121:R420X	R	-	1	2	RNF6	25686761	1.000000	0.71417	0.328000	0.25416	0.747000	0.42532	1.358000	0.34102	-0.095000	0.12351	0.455000	0.32223	AGA		RNF6-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044246.2	NM_005977	
FLT3	2322	hgsc.bcm.edu	37	13	28608472	28608472	+	Missense_Mutation	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr13:28608472A>G	ENST00000241453.7	-	13	1751	c.1670T>C	c.(1669-1671)gTt>gCt	p.V557A	FLT3_ENST00000380982.4_Missense_Mutation_p.V557A|FLT3_ENST00000537084.1_Missense_Mutation_p.V557A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	557			V -> I (in dbSNP:rs35958982). {ECO:0000269|PubMed:17344846}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGGTTAAAACGACAATGAA	0.393			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13											96.0	89.0	92.0					13																	28608472		2203	4300	6503	27506472	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1670T>C	13.37:g.28608472A>G	ENSP00000241453:p.Val557Ala	Somatic		Capture	Illumina HiSeq	Phase_I	27506472	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466433	0.26335	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78595	-1.12;-1.19;-0.93	5.83	5.83	0.93111	.	0.552763	0.17442	N	0.174076	T	0.72748	0.3499	L	0.50333	1.59	0.09310	N	1	B;B	0.16802	0.019;0.004	B;B	0.12156	0.007;0.005	T	0.65919	-0.6051	10	0.72032	D	0.01	.	11.2703	0.49136	0.9292:0.0:0.0708:0.0	.	557;557	P36888-2;P36888	.;FLT3_HUMAN	A	557	ENSP00000241453:V557A;ENSP00000370369:V557A;ENSP00000438139:V557A	ENSP00000241453:V557A	V	-	2	0	FLT3	27506472	0.567000	0.26626	0.005000	0.12908	0.516000	0.34256	5.917000	0.69989	2.226000	0.72624	0.533000	0.62120	GTT		FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
BRCA2	675	hgsc.bcm.edu	37	13	32913536	32913536	+	Missense_Mutation	SNP	A	A	G	rs397507756		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr13:32913536A>G	ENST00000380152.3	+	11	5277	c.5044A>G	c.(5044-5046)Agt>Ggt	p.S1682G	BRCA2_ENST00000544455.1_Missense_Mutation_p.S1682G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1682	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)		AACTTCTGTGAGTCAGACTTC	0.328			"""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)																											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											33.0	36.0	35.0					13																	32913536		2187	4287	6474	31811536	SO:0001583	missense	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.5044A>G	13.37:g.32913536A>G	ENSP00000369497:p.Ser1682Gly	Somatic		Capture	Illumina HiSeq	Phase_I	31811536	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	9.258	1.042569	0.19748	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.87650	-2.28;-2.28	5.76	3.22	0.36961	.	0.501323	0.22848	N	0.054886	T	0.79862	0.4519	L	0.35854	1.095	0.19300	N	0.999979	B	0.22909	0.077	B	0.23419	0.046	T	0.68435	-0.5409	10	0.49607	T	0.09	.	8.0637	0.30648	0.8122:0.0:0.0664:0.1214	.	1682	P51587	BRCA2_HUMAN	G	1682	ENSP00000369497:S1682G;ENSP00000439902:S1682G	ENSP00000369497:S1682G	S	+	1	0	BRCA2	31811536	0.216000	0.23585	0.037000	0.18230	0.241000	0.25554	2.109000	0.41863	0.400000	0.25396	0.533000	0.62120	AGT		BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
DIAPH3	81624	hgsc.bcm.edu	37	13	60407364	60407364	+	Silent	SNP	C	C	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr13:60407364C>A	ENST00000400324.4	-	24	3124	c.2904G>T	c.(2902-2904)tcG>tcT	p.S968S	DIAPH3_ENST00000400320.1_Silent_p.S922S|DIAPH3_ENST00000400319.1_Silent_p.S898S|DIAPH3_ENST00000377908.2_Silent_p.S957S|DIAPH3_ENST00000267215.4_Silent_p.S968S|DIAPH3_ENST00000400330.1_Silent_p.S968S|DIAPH3_ENST00000465066.1_5'UTR	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	968	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CGTGTAACTTCGAAAGTGTCT	0.363																																																	0			13											129.0	116.0	120.0					13																	60407364		1837	4085	5922	59305365	SO:0001819	synonymous_variant	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2904G>T	13.37:g.60407364C>A		Somatic		Capture	Illumina HiSeq	Phase_I	59305365	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	CCDS41898.1																																																																																				DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
ERCC5	2073	hgsc.bcm.edu	37	13	103518117	103518117	+	Silent	SNP	G	G	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr13:103518117G>C	ENST00000355739.4	+	9	3478	c.2055G>C	c.(2053-2055)ctG>ctC	p.L685L	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.G1111R|ERCC5_ENST00000375954.1_5'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	685					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGAGGAACTGGTAGGAACTA	0.517			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	0			13											49.0	45.0	46.0					13																	103518117		2203	4300	6503	102316118	SO:0001819	synonymous_variant	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2055G>C	13.37:g.103518117G>C		Somatic		Capture	Illumina HiSeq	Phase_I	102316118	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	CCDS32004.1																																																																																				ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
VIM	7431	hgsc.bcm.edu	37	10	17271980	17271980	+	Missense_Mutation	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:17271980G>A	ENST00000224237.5	+	1	704	c.559G>A	c.(559-561)Gag>Aag	p.E187K	VIM_ENST00000485947.1_3'UTR|VIM_ENST00000544301.1_Missense_Mutation_p.E187K|VIM-AS1_ENST00000605833.1_RNA			P08670	VIME_HUMAN	vimentin	187	Coil 1B.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E187*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGCCTCCGGGAGAAGTAAGG	0.701																																																	1	Substitution - Nonsense(1)	large_intestine(1)	10											13.0	14.0	14.0					10																	17271980		2176	4244	6420	17311986	SO:0001583	missense	7431			M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.559G>A	10.37:g.17271980G>A	ENSP00000224237:p.Glu187Lys	Somatic		Capture	Illumina HiSeq	Phase_I	17311986	B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.044653	0.93685	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.88741	-2.42;-2.42	5.15	5.15	0.70609	Filament (1);	0.000000	0.45606	U	0.000348	D	0.85168	0.5635	N	0.17922	0.545	0.80722	D	1	B;B;D;D;B	0.52996	0.27;0.228;0.957;0.957;0.27	B;B;P;P;B	0.48901	0.087;0.052;0.594;0.594;0.087	T	0.83168	-0.0095	10	0.19147	T	0.46	.	18.6077	0.91272	0.0:0.0:1.0:0.0	.	187;174;174;187;187	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	K	187;187;174	ENSP00000446007:E187K;ENSP00000224237:E187K	ENSP00000224237:E187K	E	+	1	0	VIM	17311986	1.000000	0.71417	0.994000	0.49952	0.961000	0.63080	3.759000	0.55227	2.376000	0.81061	0.551000	0.68910	GAG		VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380	
ABI1	10006	hgsc.bcm.edu	37	10	27066141	27066141	+	Silent	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:27066141T>C	ENST00000376142.2	-	3	386	c.315A>G	c.(313-315)gcA>gcG	p.A105A	ABI1_ENST00000376170.4_Silent_p.A105A|ABI1_ENST00000376160.1_Silent_p.A105A|ABI1_ENST00000359188.4_Silent_p.A105A|ABI1_ENST00000490841.2_Intron|ABI1_ENST00000346832.5_Silent_p.A122A|ABI1_ENST00000376138.3_Silent_p.A105A|ABI1_ENST00000376166.1_Silent_p.A105A|ABI1_ENST00000376140.3_Silent_p.A105A|ABI1_ENST00000536334.1_Silent_p.A105A|ABI1_ENST00000473481.1_5'UTR|ABI1_ENST00000355394.4_Silent_p.A105A|ABI1_ENST00000376134.3_Silent_p.A105A|ABI1_ENST00000376137.4_Silent_p.A105A|ABI1_ENST00000376139.2_Silent_p.A105A	NM_005470.3	NP_005461.2	Q8IZP0	ABI1_HUMAN	abl-interactor 1	105	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium morphogenesis (GO:0072673)|megakaryocyte development (GO:0035855)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|SCAR complex (GO:0031209)	cytoskeletal protein binding (GO:0008092)|protein complex binding (GO:0032403)|protein tyrosine kinase activator activity (GO:0030296)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCTCTTCGTGCCACTTTCT	0.328																																																	0			10											91.0	80.0	83.0					10																	27066141		2203	4300	6503	27106147	SO:0001819	synonymous_variant	10006			U87166	CCDS7150.1, CCDS31169.1, CCDS31170.1, CCDS31171.1, CCDS53497.1, CCDS53498.1, CCDS53499.1, CCDS53500.1, CCDS53501.1, CCDS73077.1, CCDS73078.1	10p12.1	2009-05-29	2004-03-17	2004-03-19	ENSG00000136754	ENSG00000136754			11320	protein-coding gene	gene with protein product		603050	"""spectrin SH3 domain binding protein 1"""	SSH3BP1		9593709, 9010225	Standard	NM_005470		Approved	E3B1, ABI-1	uc001isx.3	Q8IZP0	OTTHUMG00000017848	ENST00000376142.2:c.315A>G	10.37:g.27066141T>C		Somatic		Capture	Illumina HiSeq	Phase_I	27106147	A9Z1Y6|B3KX62|B4DQ58|H7BXI6|O15147|O76049|O95060|Q5T2R3|Q5T2R4|Q5T2R6|Q5T2R7|Q5T2R9|Q5W070|Q5W072|Q8TB63|Q96S81|Q9NXZ9|Q9NYB8	Silent	SNP	ENST00000376142.2	37	CCDS7150.1																																																																																				ABI1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047287.1	NM_005470	
ITGB1	3688	hgsc.bcm.edu	37	10	33209233	33209233	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:33209233G>A	ENST00000396033.2	-	10	1344	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	ITGB1_ENST00000423113.1_Silent_p.N403N|ITGB1_ENST00000374956.4_Silent_p.N403N|ITGB1_ENST00000302278.3_Silent_p.N403N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	403					axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)	p.N403N(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	CATTCACCCCGTTCTTGCAGT	0.358																																																	1	Substitution - coding silent(1)	ovary(1)	10											152.0	129.0	137.0					10																	33209233		2203	4300	6503	33249239	SO:0001819	synonymous_variant	3688			BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1209C>T	10.37:g.33209233G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33249239	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	CCDS7174.1																																																																																				ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
NRP1	8829	hgsc.bcm.edu	37	10	33502450	33502450	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:33502450T>G	ENST00000265371.4	-	10	2003	c.1478A>C	c.(1477-1479)aAg>aCg	p.K493T	NRP1_ENST00000395995.1_Missense_Mutation_p.K493T|NRP1_ENST00000374875.1_Missense_Mutation_p.K312T|NRP1_ENST00000432372.2_Missense_Mutation_p.K493T|NRP1_ENST00000374823.5_Missense_Mutation_p.K493T|NRP1_ENST00000374867.2_Missense_Mutation_p.K493T|NRP1_ENST00000374816.3_Missense_Mutation_p.K493T|NRP1_ENST00000374821.5_Missense_Mutation_p.K493T|NRP1_ENST00000374822.4_Missense_Mutation_p.K493T|RP11-342D11.2_ENST00000451530.1_RNA			O14786	NRP1_HUMAN	neuropilin 1	493	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTCACGATCTTCTCCTCCCC	0.547																																					Melanoma(104;886 1489 44640 45944 51153)												0			10											171.0	151.0	158.0					10																	33502450		2203	4300	6503	33542456	SO:0001583	missense	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1478A>C	10.37:g.33502450T>G	ENSP00000265371:p.Lys493Thr	Somatic		Capture	Illumina HiSeq	Phase_I	33542456	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	T	15.29	2.789527	0.50102	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76;-4.76;-4.76;-4.76;-4.76	5.95	3.56	0.40772	Coagulation factor 5/8 C-terminal type domain (4);Galactose-binding domain-like (1);	0.081437	0.85682	N	0.000000	D	0.96571	0.8881	L	0.44542	1.39	0.58432	D	0.999999	B;B;B;B;B;B;B;B;B	0.32350	0.016;0.198;0.366;0.039;0.004;0.008;0.016;0.016;0.007	B;B;B;B;B;B;B;B;B	0.41946	0.173;0.285;0.371;0.233;0.012;0.037;0.123;0.111;0.05	D	0.93850	0.7144	10	0.52906	T	0.07	-20.9239	8.8565	0.35231	0.0:0.0657:0.1277:0.8066	.	493;493;493;493;493;493;493;312;493	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	T	493;312;493;493;493;493;493;493;166	ENSP00000265371:K493T;ENSP00000364009:K312T;ENSP00000364001:K493T;ENSP00000379317:K493T;ENSP00000363955:K493T;ENSP00000363954:K493T;ENSP00000363956:K493T;ENSP00000363949:K493T;ENSP00000408911:K166T	ENSP00000265371:K493T	K	-	2	0	NRP1	33542456	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	5.182000	0.65059	0.467000	0.27218	-0.290000	0.09829	AAG		NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2		
FRMPD2	143162	hgsc.bcm.edu	37	10	49409390	49409390	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:49409390T>G	ENST00000374201.3	-	15	2137	c.1835A>C	c.(1834-1836)aAg>aCg	p.K612T	FRMPD2_ENST00000407470.4_Missense_Mutation_p.K580T|FRMPD2_ENST00000305531.3_Missense_Mutation_p.K587T	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	612	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TGTGTGCTTCTTCCCAGTGAC	0.473																																																	0			10											207.0	169.0	182.0					10																	49409390		2203	4300	6503	49079396	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.1835A>C	10.37:g.49409390T>G	ENSP00000363317:p.Lys612Thr	Somatic		Capture	Illumina HiSeq	Phase_I	49079396	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.441203	0.63067	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	D;D;D	0.86956	-2.19;-2.19;-2.19	5.02	3.84	0.44239	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	.	.	.	.	D	0.90559	0.7041	L	0.59436	1.845	0.38682	D	0.952562	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.91635	0.999;0.977;0.999	D	0.89201	0.3557	9	0.36615	T	0.2	.	10.3396	0.43870	0.1474:0.0:0.0:0.8526	.	587;612;580	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	T	612;587;580	ENSP00000363317:K612T;ENSP00000307079:K587T;ENSP00000384339:K580T	ENSP00000307079:K587T	K	-	2	0	FRMPD2	49079396	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	3.242000	0.51384	0.809000	0.34255	0.533000	0.62120	AAG		FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
ASAH2	56624	hgsc.bcm.edu	37	10	52005168	52005169	+	Missense_Mutation	DNP	GG	GG	TT	rs374685598		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:52005168_52005169GG>TT	ENST00000395526.4	-	2	172_173	c.173_174CC>AA	c.(172-174)aCC>aAA	p.T58K	ASAH2_ENST00000447815.1_Missense_Mutation_p.T58K|ASAH2_ENST00000329428.6_Missense_Mutation_p.T39K	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	58					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						TGGAGCCCTGGGTGGCTGGAGG	0.505																																																	0			10																																								51675174|51675175	SO:0001583	missense	56624			AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.173_174delinsTT	10.37:g.52005168_52005169delinsTT	ENSP00000378897:p.Thr58Lys	Somatic		Capture	Illumina HiSeq	Phase_I	51675174|51675175	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Silent|Missense_Mutation	SNP	ENST00000395526.4	37	CCDS7239.2																																																																																				ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893	
COX15	1355	hgsc.bcm.edu	37	10	101487249	101487249	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:101487249T>C	ENST00000016171.5	-	3	394	c.344A>G	c.(343-345)gAg>gGg	p.E115G	CUTC_ENST00000493385.1_Intron|COX15_ENST00000370483.5_Missense_Mutation_p.E115G			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	115					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTCCCATTCCTCTTGGCTTGT	0.398																																																	0			10											193.0	191.0	192.0					10																	101487249		2203	4300	6503	101477239	SO:0001583	missense	1355			AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.344A>G	10.37:g.101487249T>C	ENSP00000016171:p.Glu115Gly	Somatic		Capture	Illumina HiSeq	Phase_I	101477239	A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	T	15.92	2.973827	0.53720	.	.	ENSG00000014919	ENST00000370483;ENST00000016171	D;D	0.83914	-1.78;-1.78	4.49	4.49	0.54785	Peptidase cysteine/serine, trypsin-like (1);	0.227915	0.42964	D	0.000629	D	0.88983	0.6586	M	0.91354	3.2	0.45554	D	0.998506	B;B	0.26672	0.156;0.083	B;B	0.39339	0.287;0.297	D	0.89662	0.3877	10	0.62326	D	0.03	-9.5272	14.2519	0.66026	0.0:0.0:0.0:1.0	.	115;115	Q7KZN9-2;Q7KZN9	.;COX15_HUMAN	G	115	ENSP00000359514:E115G;ENSP00000016171:E115G	ENSP00000016171:E115G	E	-	2	0	COX15	101477239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.022000	0.41030	2.030000	0.59900	0.460000	0.39030	GAG		COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870	
PKD2L1	9033	hgsc.bcm.edu	37	10	102089792	102089792	+	Silent	SNP	G	G	A	rs201861031		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:102089792G>A	ENST00000318222.3	-	1	451	c.69C>T	c.(67-69)ccC>ccT	p.P23P	PKD2L1_ENST00000338519.3_Silent_p.P23P|PKD2L1_ENST00000353274.3_Silent_p.P23P	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	23					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CACTGTAGGCGGGGTTGTCCC	0.642																																																	0			10						G		0,4406		0,0,2203	60.0	65.0	63.0		69	-10.6	0.9	10		63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKD2L1	NM_016112.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		23/806	102089792	1,13005	2203	4300	6503	102079782	SO:0001819	synonymous_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.69C>T	10.37:g.102089792G>A		Somatic		Capture	Illumina HiSeq	Phase_I	102079782	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1																																																																																				PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112	
CALHM2	51063	hgsc.bcm.edu	37	10	105209516	105209516	+	Silent	SNP	G	G	A			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr10:105209516G>A	ENST00000260743.5	-	3	706	c.183C>T	c.(181-183)atC>atT	p.I61I	CALHM2_ENST00000393235.1_Silent_p.I61I|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Silent_p.I61I|CALHM2_ENST00000494180.1_5'UTR	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	61					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CGGGCACGCCGATGGCCGCCA	0.652																																																	0			10											41.0	49.0	46.0					10																	105209516		2203	4299	6502	105199506	SO:0001819	synonymous_variant	51063			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.183C>T	10.37:g.105209516G>A		Somatic		Capture	Illumina HiSeq	Phase_I	105199506	D3DR94|O95893|Q6ZUV9	Silent	SNP	ENST00000260743.5	37	CCDS7549.1																																																																																				CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050159.1	NM_015916	
ADCY2	108	hgsc.bcm.edu	37	5	7626421	7626421	+	Missense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr5:7626421C>T	ENST00000338316.4	+	4	801	c.712C>T	c.(712-714)Cgt>Tgt	p.R238C		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	238					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATTTGAAAAACGTCAACAGGT	0.378																																																	0			5											108.0	101.0	103.0					5																	7626421		2203	4300	6503	7679421	SO:0001583	missense	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.712C>T	5.37:g.7626421C>T	ENSP00000342952:p.Arg238Cys	Somatic		Capture	Illumina HiSeq	Phase_I	7679421	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	17.77	3.472281	0.63737	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681	T	0.77489	-1.1	5.09	5.09	0.68999	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.129142	0.50627	D	0.000117	D	0.82903	0.5138	L	0.51914	1.62	0.80722	D	1	D	0.89917	1.0	D	0.63488	0.915	D	0.84343	0.0528	10	0.87932	D	0	.	12.7744	0.57439	0.1631:0.8369:0.0:0.0	.	238	Q08462	ADCY2_HUMAN	C	238;89;27	ENSP00000342952:R238C	ENSP00000342952:R238C	R	+	1	0	ADCY2	7679421	1.000000	0.71417	0.973000	0.42090	0.928000	0.56348	2.734000	0.47368	2.520000	0.84964	0.655000	0.94253	CGT		ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
MCTP1	79772	hgsc.bcm.edu	37	5	94244963	94244963	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr5:94244963T>C	ENST00000515393.1	-	10	1644	c.1645A>G	c.(1645-1647)Att>Gtt	p.I549V	MCTP1_ENST00000505078.1_Missense_Mutation_p.I65V|MCTP1_ENST00000429576.2_Missense_Mutation_p.I282V|MCTP1_ENST00000505208.1_Missense_Mutation_p.I328V|MCTP1_ENST00000312216.8_Missense_Mutation_p.I328V	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	549	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.I549L(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AACCTGCCAATGAAATCATCC	0.358																																																	1	Substitution - Missense(1)	ovary(1)	5											82.0	77.0	79.0					5																	94244963		2203	4300	6503	94270719	SO:0001583	missense	79772				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1645A>G	5.37:g.94244963T>C	ENSP00000424126:p.Ile549Val	Somatic		Capture	Illumina HiSeq	Phase_I	94270719	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525886	0.44969	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568	T;T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.68	5.68	0.88126	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093490	0.64402	D	0.000001	T	0.72112	0.3420	L	0.58354	1.805	0.58432	D	0.999998	B;B;B	0.33379	0.41;0.199;0.199	B;B;B	0.41174	0.349;0.216;0.138	T	0.68861	-0.5297	10	0.26408	T	0.33	-14.5208	15.9332	0.79683	0.0:0.0:0.0:1.0	.	549;282;328	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	V	549;282;65;328;269;210;328;150	ENSP00000424126:I549V;ENSP00000391639:I282V;ENSP00000426417:I65V;ENSP00000308957:I328V;ENSP00000423410:I269V;ENSP00000431075:I210V;ENSP00000426438:I328V;ENSP00000426294:I150V	ENSP00000308957:I328V	I	-	1	0	MCTP1	94270719	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	7.698000	0.84413	2.164000	0.68074	0.477000	0.44152	ATT		MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
APC	324	hgsc.bcm.edu	37	5	112151204	112151204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr5:112151204C>T	ENST00000457016.1	+	9	1227	c.847C>T	c.(847-849)Cga>Tga	p.R283*	APC_ENST00000257430.4_Nonsense_Mutation_p.R283*|APC_ENST00000508376.2_Nonsense_Mutation_p.R283*			P25054	APC_HUMAN	adenomatous polyposis coli	283	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.R283*(11)		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)		TTCAACTACACGAATGGACCA	0.383		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"""	11	Substitution - Nonsense(11)	large_intestine(11)	5	GRCh37	CM920030	APC	M							108.0	98.0	102.0					5																	112151204		2202	4300	6502	112179103	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.847C>T	5.37:g.112151204C>T	ENSP00000413133:p.Arg283*	Somatic		Capture	Illumina HiSeq	Phase_I	112179103	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	40	8.381748	0.98786	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.11	4.22	0.49857	.	0.134048	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.044	12.9775	0.58546	0.2942:0.7058:0.0:0.0	.	.	.	.	X	283;265;283;283;283	.	ENSP00000257430:R283X	R	+	1	2	APC	112179103	1.000000	0.71417	0.953000	0.39169	0.976000	0.68499	5.216000	0.65246	1.244000	0.43870	0.650000	0.86243	CGA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175507	112175507	+	Nonsense_Mutation	SNP	C	C	T	rs587782518		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr5:112175507C>T	ENST00000457016.1	+	16	4596	c.4216C>T	c.(4216-4218)Cag>Tag	p.Q1406*	APC_ENST00000257430.4_Nonsense_Mutation_p.Q1406*|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1406*			P25054	APC_HUMAN	adenomatous polyposis coli	1406	Ser-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.Q1406*(15)|p.Q1406fs*11(1)|p.?(1)|p.K1192fs*3(1)|p.I1401fs*2(1)|p.Y1376fs*41(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)		CAGCTCCGTTCAGAGTGAACC	0.468		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"""	20	Substitution - Nonsense(15)|Deletion - Frameshift(3)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(18)|soft_tissue(1)|skin(1)	5	GRCh37	CI084250|CM023011	APC	I|M							113.0	105.0	108.0					5																	112175507		2202	4300	6502	112203406	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.4216C>T	5.37:g.112175507C>T	ENSP00000413133:p.Gln1406*	Somatic		Capture	Illumina HiSeq	Phase_I	112203406	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.658788	0.98903	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	5.3	0.74995	.	0.187376	0.50627	D	0.000103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.0613	15.6825	0.77381	0.0:0.8637:0.1363:0.0	.	.	.	.	X	1406	.	.	Q	+	1	0	APC	112203406	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.175000	0.77632	1.615000	0.50252	0.655000	0.94253	CAG		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA9	9752	hgsc.bcm.edu	37	5	140229622	140229622	+	Silent	SNP	C	C	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr5:140229622C>T	ENST00000532602.1	+	1	2575	c.1542C>T	c.(1540-1542)agC>agT	p.S514S	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000378122.3_Silent_p.S514S	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	514	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGGAGAGCGGCAAGGTGT	0.692																																					Melanoma(55;1800 1972 14909)												0			5																																								140209806	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.1542C>T	5.37:g.140229622C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140209806	O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
DOCK2	1794	hgsc.bcm.edu	37	5	169446021	169446021	+	Missense_Mutation	SNP	T	T	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr5:169446021T>G	ENST00000256935.8	+	33	3370	c.3290T>G	c.(3289-3291)cTt>cGt	p.L1097R	DOCK2_ENST00000540750.1_Missense_Mutation_p.L158R|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.L589R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1097	Interaction with CRKL.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGATGACACTTATCCCTGAG	0.423																																																	0			5											205.0	198.0	201.0					5																	169446021		2203	4300	6503	169378599	SO:0001583	missense	1794			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.3290T>G	5.37:g.169446021T>G	ENSP00000256935:p.Leu1097Arg	Somatic		Capture	Illumina HiSeq	Phase_I	169378599	Q2M3I0|Q96AK7	Missense_Mutation	SNP	ENST00000256935.8	37	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529505	0.85706	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.52295	0.67;0.67;0.67	4.8	4.8	0.61643	.	0.000000	0.64402	D	0.000001	T	0.75184	0.3815	M	0.92122	3.275	0.53688	D	0.99997	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.82358	-0.0497	10	0.87932	D	0	.	14.3619	0.66779	0.0:0.0:0.0:1.0	.	589;1097	E7ERW7;Q92608	.;DOCK2_HUMAN	R	1097;589;158	ENSP00000256935:L1097R;ENSP00000429283:L589R;ENSP00000438827:L158R	ENSP00000256935:L1097R	L	+	2	0	DOCK2	169378599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.938000	0.87678	1.795000	0.52594	0.528000	0.53228	CTT		DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946	
ZNF879	345462	hgsc.bcm.edu	37	5	178459243	178459243	+	Missense_Mutation	SNP	A	A	T			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr5:178459243A>T	ENST00000444149.2	+	5	482	c.294A>T	c.(292-294)gaA>gaT	p.E98D	ZNF879_ENST00000519896.1_3'UTR	NM_001136116.1	NP_001129588.1	B4DU55	ZN879_HUMAN	zinc finger protein 879	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|pancreas(1)|stomach(1)	7						TTTCTAAAGAAGAAAATCAGG	0.323																																																	0			5											62.0	55.0	57.0					5																	178459243		692	1591	2283	178391849	SO:0001583	missense	0			AK300504	CCDS47352.1	5q35.3	2013-01-08			ENSG00000234284	ENSG00000234284		"""Zinc fingers, C2H2-type"", ""-"""	37273	protein-coding gene	gene with protein product							Standard	NM_001136116		Approved	DKFZp686E2433	uc003mjt.4	B4DU55	OTTHUMG00000163596	ENST00000444149.2:c.294A>T	5.37:g.178459243A>T	ENSP00000414887:p.Glu98Asp	Somatic		Capture	Illumina HiSeq	Phase_I	178391849		Missense_Mutation	SNP	ENST00000444149.2	37	CCDS47352.1	.	.	.	.	.	.	.	.	.	.	A	10.71	1.427981	0.25726	.	.	ENSG00000234284	ENST00000444149;ENST00000522442	T;T	0.07444	3.19;5.71	4.59	3.39	0.38822	.	.	.	.	.	T	0.06826	0.0174	L	0.39898	1.24	0.80722	D	1	B	0.23058	0.079	B	0.26614	0.071	T	0.24154	-1.0168	9	0.12766	T	0.61	-1.9769	7.2684	0.26242	0.8978:0.0:0.1022:0.0	.	98	B4DU55	ZN879_HUMAN	D	98	ENSP00000414887:E98D;ENSP00000428477:E98D	ENSP00000414887:E98D	E	+	3	2	ZNF879	178391849	0.076000	0.21285	0.888000	0.34837	0.839000	0.47603	0.266000	0.18534	0.839000	0.34971	0.482000	0.46254	GAA		ZNF879-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374447.1	NM_001136116	
MGAT1	4245	hgsc.bcm.edu	37	5	180218983	180218983	+	Missense_Mutation	SNP	T	T	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr5:180218983T>C	ENST00000446023.2	-	3	1739	c.989A>G	c.(988-990)aAg>aGg	p.K330R	MGAT1_ENST00000333055.3_Missense_Mutation_p.K330R|MGAT1_ENST00000393340.3_Missense_Mutation_p.K330R|MGAT1_ENST00000307826.4_Missense_Mutation_p.K330R|MGAT1_ENST00000427865.2_Missense_Mutation_p.K330R	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	330					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGATAAACTTGAGGTGCTG	0.587																																																	0			5											78.0	86.0	83.0					5																	180218983		2203	4300	6503	180151589	SO:0001583	missense	116255			M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.989A>G	5.37:g.180218983T>C	ENSP00000404718:p.Lys330Arg	Somatic		Capture	Illumina HiSeq	Phase_I	180151589	A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	T	11.04	1.520466	0.27211	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	4.52	4.52	0.55395	.	0.060876	0.64402	D	0.000007	T	0.70996	0.3288	N	0.13003	0.285	0.42305	D	0.992197	B	0.20368	0.044	B	0.22753	0.041	T	0.66752	-0.5844	10	0.38643	T	0.18	-27.9198	6.8757	0.24145	0.0:0.1028:0.0:0.8972	.	330	P26572	MGAT1_HUMAN	R	330;330;330;330;187;330	ENSP00000332073:K330R;ENSP00000311888:K330R;ENSP00000404718:K330R;ENSP00000377010:K330R;ENSP00000402838:K330R	ENSP00000311888:K330R	K	-	2	0	MGAT1	180151589	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.347000	0.52200	2.030000	0.59900	0.533000	0.62120	AAG		MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618	
CDH1	999	hgsc.bcm.edu	37	16	68846036	68846036	+	Splice_Site	SNP	A	A	G			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr16:68846036A>G	ENST00000261769.5	+	8	1199		c.e8-1		RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_Splice_Site|CDH1_ENST00000422392.2_Splice_Site	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ATCTCTCTGCAGAGTTTCCCT	0.507			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(4)	stomach(2)|breast(2)	16											240.0	174.0	196.0					16																	68846036		2198	4300	6498	67403537	SO:0001630	splice_region_variant	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1009-1A>G	16.37:g.68846036A>G		Somatic		Capture	Illumina HiSeq	Phase_I	67403537	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	10.82	1.457624	0.26161	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1473	0.48438	0.9279:0.0:0.0721:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH1	67403537	1.000000	0.71417	0.958000	0.39756	0.088000	0.18126	6.766000	0.74970	2.276000	0.75962	0.454000	0.30748	.		CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	Intron
ELF3	1999	hgsc.bcm.edu	37	1	201983018	201983019	+	Frame_Shift_Ins	INS	-	-	G	rs149307595		TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:201983018_201983019insG	ENST00000359651.3	+	7	4059_4060	c.867_868insG	c.(868-870)gagfs	p.E290fs	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Frame_Shift_Ins_p.E290fs|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.E290fs					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CGGAGCTCAACGAGGGCCTCAT	0.584																																																	0			1																																								200249642	SO:0001589	frameshift_variant	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.868dupG	1.37:g.201983019_201983019dupG	ENSP00000352673:p.Glu290fs	Somatic		Capture	Illumina HiSeq	Phase_I	200249641		Frame_Shift_Ins	INS	ENST00000359651.3	37	CCDS1419.1																																																																																				ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087360.1	NM_004433	
OR2T4	127074	hgsc.bcm.edu	37	1	248524965	248524966	+	Frame_Shift_Del	DEL	CA	CA	-	rs561405021	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	CA	CA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr1:248524965_248524966delCA	ENST00000366475.1	+	1	83_84	c.83_84delCA	c.(82-84)ccafs	p.P28fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCAAACATCCAATGGCCAATA	0.500														146	0.0291534	0.0	0.0187	5008	,	,		16475	0.0645		0.0099	False		,,,				2504	0.0593																0			1																																								246591589	SO:0001589	frameshift_variant	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.83_84delCA	1.37:g.248524965_248524966delCA	ENSP00000355431:p.Pro28fs	Somatic		Capture	Illumina HiSeq	Phase_I	246591588	Q6IEZ8	Frame_Shift_Del	DEL	ENST00000366475.1	37	CCDS31113.1																																																																																				OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	AC105344.2_ENST00000414876.1_lincRNA|SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del	Somatic		Capture	Illumina HiSeq	Phase_I	231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
KMT2C	58508	hgsc.bcm.edu	37	7	151874148	151874148	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr7:151874148delT	ENST00000262189.6	-	38	8608	c.8390delA	c.(8389-8391)aagfs	p.K2797fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K2797fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2797				K -> R (in Ref. 1; AAK00583). {ECO:0000305}.	histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.K2797fs*26(20)									TTCTTGTTCCTTTTTTTTTGG	0.348																																																	20	Deletion - Frameshift(20)	large_intestine(18)|liver(2)	7											135.0	130.0	132.0					7																	151874148		2203	4300	6503	151505081	SO:0001589	frameshift_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8390delA	7.37:g.151874148delT	ENSP00000262189:p.Lys2797fs	Somatic		Capture	Illumina HiSeq	Phase_I	151505081	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	CCDS5931.1																																																																																				KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
RIC8A	60626	hgsc.bcm.edu	37	11	209895	209897	+	In_Frame_Del	DEL	CCC	CCC	-	rs201633036|rs200641500|rs3832797|rs398102296|rs571957041	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	CCC	CCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:209895_209897delCCC	ENST00000526104.1	+	3	1965_1967	c.621_623delCCC	c.(619-624)aacccc>aac	p.P210del	RIC8A_ENST00000325207.5_In_Frame_Del_p.P210del|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000486280.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|RIC8A_ENST00000527696.1_In_Frame_Del_p.P204del|BET1L_ENST00000325147.9_5'Flank			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	210					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGAAGGGAACCCCCCACCCACG	0.601														2073	0.413938	0.2519	0.428	5008	,	,		21433	0.7629		0.327	False		,,,				2504	0.3528																0			11								1167,8,3089		173,0,821,4,0,1134						1.2	0.0		dbSNP_107	49	2820,12,5422		493,0,1834,6,0,1794	no	codingComplex	RIC8A	NM_021932.4		666,0,2655,10,0,2928	A1A1,A1A2,A1R,A2A2,A2R,RR		34.3106,27.5563,32.0099				3987,20,8511				199897	SO:0001651	inframe_deletion	60626			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.621_623delCCC	11.37:g.209898_209900delCCC	ENSP00000432008:p.Pro210del	Somatic		Capture	Illumina HiSeq	Phase_I	199895	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	In_Frame_Del	DEL	ENST00000526104.1	37																																																																																					RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
KRTAP5-1	387264	hgsc.bcm.edu	37	11	1606121	1606150	+	In_Frame_Del	DEL	CCACAGCCACCCTTGGATCCCCCACAAGAG	CCACAGCCACCCTTGGATCCCCCACAAGAG	-	rs138363822|rs199501537|rs80025267|rs76191756	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	CCACAGCCACCCTTGGATCCCCCACAAGAG	CCACAGCCACCCTTGGATCCCCCACAAGAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr11:1606121_1606150delCCACAGCCACCCTTGGATCCCCCACAAGAG	ENST00000382171.2	-	1	363_392	c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	c.(328-360)ggctcttgtgggggatccaagggtggctgtggt>ggt	p.110_120GSCGGSKGGCG>G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCCGGAACCACAGCCACCCTTGGATCCCCCACAAGAGCCACAGCCCC	0.661																																																	0			11								2171,2035		609,953,541						-5.2	0.0			71	4129,4059		1127,1875,1092	no	coding	KRTAP5-1	NM_001005922.1		1736,2828,1633	A1A1,A1R,RR		49.5725,48.3833,49.169				6300,6094				1562726	SO:0001651	inframe_deletion	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	11.37:g.1606121_1606150delCCACAGCCACCCTTGGATCCCCCACAAGAG	ENSP00000371606:p.Gly110_Cys119del	Somatic		Capture	Illumina HiSeq	Phase_I	1562697		In_Frame_Del	DEL	ENST00000382171.2	37	CCDS31330.1																																																																																				KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922	
TMBIM4	51643	hgsc.bcm.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-	rs199863727	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000539652.1_Intron	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353																																																	0			12								30,27,3421		0,0,30,0,27,1682	40.0	38.0	38.0			6.2	0.1	12		41	61,77,7666		0,0,61,0,77,3764	no	codingComplex	TMBIM4	NM_016056.2		0,0,91,0,104,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7683,1.6389,1.7284			66531937	91,104,11087	1806	4076	5882	64818204	SO:0001589	frameshift_variant	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.520delT	12.37:g.66531937delA	ENSP00000350965:p.Tyr174fs	Somatic		Capture	Illumina HiSeq	Phase_I	64818204	Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Del	DEL	ENST00000358230.3	37	CCDS41805.1																																																																																				TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	
ATP8B1	5205	hgsc.bcm.edu	37	18	55317593	55317602	+	Splice_Site	DEL	TTATACCTTA	TTATACCTTA	-	rs188965072	byFrequency	TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	TTATACCTTA	TTATACCTTA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chr18:55317593_55317602delTTATACCTTA	ENST00000283684.4	-	26	3527_3531	c.3528_3532delTAAGGTATAA	c.(3526-3534)gataaggta>gata	p.KV1177fs	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Splice_Site_p.KV1177fs|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	1177					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				ACTATATTCTTTATACCTTATCACTTTCTG	0.438																																																	0			18																																								53468600	SO:0001630	splice_region_variant	5205			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.3531+1TAAGGTATAA>-	18.37:g.55317593_55317602delTTATACCTTA		Somatic		Capture	Illumina HiSeq	Phase_I	53468591	Q9BTP8	In_Frame_Del	DEL	ENST00000283684.4	37	CCDS11965.1																																																																																				ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256097.1	NM_005603	Frame_Shift_Del
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	INS	-	-	C			TCGA-AH-6643-01A-11D-1826-10	TCGA-AH-6643-11A-01D-1826-10	-	-					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dda2877-007f-4ced-b4a8-d1cf5ecbb4f3	2627ba9d-31da-4d64-a36f-1e2afa0645b5	g.chrUnknown:0_0insC								None (None upstream) : None (None downstream)																								0																																																	0			20																																								55400100	SO:0001628	intergenic_variant	55544																															Unknown.37:g.0_0insC		Somatic		Capture	Illumina HiSeq	Phase_I	55400099		Frame_Shift_Ins	INS		37																																																																																				0								
