#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_ORegAnno_bin	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_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
DNAH11	8701	hgsc.bcm.edu	37	7	21609825	21609825	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr7:21609825T>C	ENST00000409508.3	+	7	1364	c.1333T>C	c.(1333-1335)Ttt>Ctt	p.F445L	DNAH11_ENST00000328843.6_Missense_Mutation_p.F445L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	445	Stem. {ECO:0000250}.				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						GGCAAGCTACTTTATGGGAAG	0.353									Kartagener syndrome																																								0			7											79.0	79.0	79.0					7																	21609825		1804	4073	5877	21576350	SO:0001583	missense	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.1333T>C	7.37:g.21609825T>C	ENSP00000475939:p.Phe445Leu		21576350	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	T	7.207	0.594589	0.13875	.	.	ENSG00000105877	ENST00000328843	T	0.22336	1.96	5.79	4.64	0.57946	Dynein heavy chain, domain-1 (1);	2.966790	0.01012	N	0.003845	T	0.30823	0.0777	M	0.75150	2.29	0.28473	N	0.915306	B	0.24317	0.101	B	0.25291	0.059	T	0.53258	-0.8464	10	0.10636	T	0.68	.	11.9496	0.52948	0.0:0.0:0.1585:0.8415	.	445	Q96DT5	DYH11_HUMAN	L	445	ENSP00000330671:F445L	ENSP00000330671:F445L	F	+	1	0	DNAH11	21576350	1.000000	0.71417	0.073000	0.20177	0.022000	0.10575	3.666000	0.54540	1.017000	0.39495	0.455000	0.32223	TTT		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
FLNC	2318	hgsc.bcm.edu	37	7	128496863	128496863	+	Silent	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr7:128496863C>T	ENST00000325888.8	+	45	7710	c.7449C>T	c.(7447-7449)aaC>aaT	p.N2483N	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.N2450N	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2483	Interaction with INPPL1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)	p.N2483N(2)		biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCAAGTTCAACGGTGCCCACA	0.597																																																	2	Substitution - coding silent(2)	lung(1)|breast(1)	7											97.0	101.0	100.0					7																	128496863		2198	4296	6494	128284099	SO:0001819	synonymous_variant	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.7449C>T	7.37:g.128496863C>T			128284099	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	CCDS43644.1																																																																																				0.597	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3		
UBE2H	7328	hgsc.bcm.edu	37	7	129479123	129479123	+	Silent	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr7:129479123G>A	ENST00000355621.3	-	6	744	c.351C>T	c.(349-351)aaC>aaT	p.N117N	UBE2H_ENST00000473814.2_Silent_p.N86N	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	117					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.N117N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					GATCTATGGGGTTAGGATAGG	0.428																																																	1	Substitution - coding silent(1)	skin(1)	7											150.0	136.0	141.0					7																	129479123		2203	4300	6503	129266359	SO:0001819	synonymous_variant	7328			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12484	protein-coding gene	gene with protein product	"""GID complex subunit 3, UBC8 homolog (S. cerevisiae)"""	601082	"""ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)"", ""ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"""			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.351C>T	7.37:g.129479123G>A			129266359	A4D1L6|C9JY93|P37286|Q7Z6F4	Silent	SNP	ENST00000355621.3	37	CCDS5814.1																																																																																				0.428	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349327.2	NM_003344	
BRAF	673	hgsc.bcm.edu	37	7	140449173	140449173	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr7:140449173G>A	ENST00000288602.6	-	16	1966	c.1906C>T	c.(1906-1908)Cag>Tag	p.Q636*		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	636	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Q636E(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ACATCTGACTGAAAGCTGTAT	0.333		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	1	Substitution - Missense(1)	lung(1)	7											106.0	110.0	109.0					7																	140449173		2202	4300	6502	140095642	SO:0001587	stop_gained	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1906C>T	7.37:g.140449173G>A	ENSP00000288602:p.Gln636*		140095642	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Nonsense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	G	31	5.082683	0.94050	.	.	ENSG00000157764	ENST00000288602	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7092	0.91649	0.0:0.0:1.0:0.0	.	.	.	.	X	636	.	ENSP00000288602:Q636X	Q	-	1	0	BRAF	140095642	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.813000	0.99286	2.502000	0.84385	0.462000	0.41574	CAG		0.333	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
CPXM1	56265	hgsc.bcm.edu	37	20	2779441	2779441	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr20:2779441C>T	ENST00000380605.2	-	2	335	c.271G>A	c.(271-273)Gtg>Atg	p.V91M		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	91					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCGGCAGTCACCAGTGGGGTG	0.567																																																	0			20											107.0	114.0	112.0					20																	2779441		2203	4300	6503	2727441	SO:0001583	missense	56265			AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.271G>A	20.37:g.2779441C>T	ENSP00000369979:p.Val91Met		2727441	Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	15.63	2.888991	0.52014	.	.	ENSG00000088882	ENST00000380605	D	0.95622	-3.76	4.75	3.78	0.43462	.	0.427763	0.18639	N	0.135359	D	0.90421	0.7001	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.34015	0.435;0.255	B;B	0.33799	0.17;0.088	D	0.84479	0.0604	10	0.56958	D	0.05	-8.1401	10.6563	0.45678	0.0:0.8062:0.1938:0.0	.	91;91	Q8N2E1;Q96SM3	.;CPXM1_HUMAN	M	91	ENSP00000369979:V91M	ENSP00000369979:V91M	V	-	1	0	CPXM1	2727441	0.194000	0.23325	0.602000	0.28890	0.225000	0.24961	3.665000	0.54532	1.194000	0.43101	0.563000	0.77884	GTG		0.567	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	
PLCB4	5332	hgsc.bcm.edu	37	20	9400473	9400473	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr20:9400473T>C	ENST00000378493.1	+	22	2050	c.2035T>C	c.(2035-2037)Ttc>Ctc	p.F679L	PLCB4_ENST00000278655.4_Missense_Mutation_p.F679L|PLCB4_ENST00000414679.2_Missense_Mutation_p.F691L|PLCB4_ENST00000378473.3_Missense_Mutation_p.F691L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.F679L|PLCB4_ENST00000378501.2_Missense_Mutation_p.F679L			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	679	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAAACCAGATTTCATGAGGCG	0.443																																																	0			20											165.0	158.0	160.0					20																	9400473		2203	4300	6503	9348473	SO:0001583	missense	5332				CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2035T>C	20.37:g.9400473T>C	ENSP00000367754:p.Phe679Leu		9348473	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	T	33	5.212170	0.95069	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64;0.64	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.000000	0.85682	D	0.000000	T	0.68016	0.2955	M	0.71206	2.165	0.80722	D	1	D;P;D;D	0.76494	0.999;0.889;0.958;0.999	D;P;D;D	0.87578	0.993;0.511;0.983;0.998	T	0.70992	-0.4721	10	0.59425	D	0.04	.	15.6507	0.77091	0.0:0.0:0.0:1.0	.	691;526;679;679	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	L	679;691;679;679;679;527	ENSP00000334105:F679L;ENSP00000367734:F691L;ENSP00000278655:F679L;ENSP00000367754:F679L;ENSP00000367762:F679L;ENSP00000390616:F527L	ENSP00000278655:F679L	F	+	1	0	PLCB4	9348473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.972000	0.88022	2.163000	0.67991	0.460000	0.39030	TTC		0.443	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
BPIFA2	140683	hgsc.bcm.edu	37	20	31760760	31760760	+	Silent	SNP	C	C	T	rs58172152	byFrequency	TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr20:31760760C>T	ENST00000253362.2	+	3	326	c.180C>T	c.(178-180)gtC>gtT	p.V60V	BPIFA2_ENST00000354932.5_Silent_p.V60V			Q96DR5	BPIA2_HUMAN	BPI fold containing family A, member 2	60						extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)										AACTGAAGGTCGACCTAGGAG	0.493													C|||	100	0.0199681	0.0696	0.0115	5008	,	,		18739	0.0		0.0	False		,,,				2504	0.0																0			20						C		258,4148	147.3+/-181.8	14,230,1959	86.0	80.0	82.0		180	-7.7	0.0	20	dbSNP_129	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	BPIFA2	NM_080574.2		14,232,6257	TT,TC,CC		0.0233,5.8557,1.9991		60/250	31760760	260,12746	2203	4300	6503	31224421	SO:0001819	synonymous_variant	140683			AF432917	CCDS13214.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131050	ENSG00000131050		"""BPI fold containing"""	16203	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 70"""	C20orf70		11971875	Standard	NM_080574		Approved	bA49G10.1, SPLUNC2, PSP	uc002wyo.1	Q96DR5	OTTHUMG00000032244	ENST00000253362.2:c.180C>T	20.37:g.31760760C>T			31224421	Q9BQQ0	Silent	SNP	ENST00000253362.2	37	CCDS13214.1																																																																																				0.493	BPIFA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257117.1	NM_080574	
C22orf42	150297	hgsc.bcm.edu	37	22	32547484	32547484	+	Missense_Mutation	SNP	G	G	A	rs72502004	byFrequency	TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr22:32547484G>A	ENST00000382097.3	-	5	527	c.455C>T	c.(454-456)aCg>aTg	p.T152M	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	152										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						AATATCTGACGTTATATTCTC	0.423													.|||	10	0.00199681	0.0	0.0	5008	,	,		20921	0.0099		0.0	False		,,,				2504	0.0																0			22						G	MET/THR	0,4406		0,0,2203	113.0	100.0	105.0		455	-0.7	0.0	22	dbSNP_130	105	2,8598	2.2+/-6.3	0,2,4298	yes	missense	C22orf42	NM_001010859.1	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	152/252	32547484	2,13004	2203	4300	6503	30877484	SO:0001583	missense	150297			BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.455C>T	22.37:g.32547484G>A	ENSP00000371529:p.Thr152Met		30877484	A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	CCDS33639.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	G	1.118	-0.656166	0.03480	0.0	2.33E-4	ENSG00000205856	ENST00000382097	T	0.28895	1.59	0.579	-0.68	0.11346	.	.	.	.	.	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.62014	0.897	T	0.15093	-1.0449	8	0.66056	D	0.02	.	.	.	.	.	152	Q6IC83	CV042_HUMAN	M	152	ENSP00000371529:T152M	ENSP00000371529:T152M	T	-	2	0	C22orf42	30877484	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.212000	0.02994	-0.251000	0.09542	-1.592000	0.00843	ACG		0.423	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859	
CPT1B	1375	hgsc.bcm.edu	37	22	51012953	51012953	+	Missense_Mutation	SNP	C	C	T	rs141802871	byFrequency	TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr22:51012953C>T	ENST00000360719.2	-	8	991	c.854G>A	c.(853-855)cGc>cAc	p.R285H	CPT1B_ENST00000405237.3_Missense_Mutation_p.R285H|CPT1B_ENST00000457250.1_Missense_Mutation_p.R251H|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Missense_Mutation_p.R285H|CPT1B_ENST00000312108.7_Missense_Mutation_p.R285H|CPT1B_ENST00000395650.2_Missense_Mutation_p.R285H|CPT1B_ENST00000434492.2_Missense_Mutation_p.R82H	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	285					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CAGTTTACGGCGATACATGAT	0.572													C|||	2	0.000399361	0.0015	0.0	5008	,	,		19908	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(170;988 1933 25577 30295 48163)												0			22						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	3,4403	6.2+/-15.9	0,3,2200	217.0	182.0	194.0		752,854,854,854,854,854,854	4.8	1.0	22	dbSNP_134	194	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense,missense,missense	CPT1B	NM_001145134.1,NM_001145135.1,NM_001145136.1,NM_001145137.1,NM_004377.3,NM_152245.2,NM_152246.2	29,29,29,29,29,29,29	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	251/739,285/773,285/692,285/773,285/773,285/773,285/773	51012953	3,13003	2203	4300	6503	49359819	SO:0001583	missense	1375			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.854G>A	22.37:g.51012953C>T	ENSP00000353945:p.Arg285His		49359819	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	C	35	5.553335	0.96501	6.81E-4	0.0	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;T;D;T;D	0.89810	-2.57;-2.57;-2.57;-1.44;-2.57;-1.44;-2.57	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.94706	0.8292	M	0.85041	2.73	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.977;1.0;1.0	D	0.95343	0.8440	10	0.87932	D	0	-28.5979	15.3912	0.74744	0.0:1.0:0.0:0.0	.	285;251;82;285	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	H	285;285;285;251;285;82;285	ENSP00000385486:R285H;ENSP00000312189:R285H;ENSP00000353945:R285H;ENSP00000409342:R251H;ENSP00000414713:R285H;ENSP00000410966:R82H;ENSP00000379011:R285H	ENSP00000312189:R285H	R	-	2	0	CPT1B	49359819	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.196000	0.77805	2.503000	0.84419	0.561000	0.74099	CGC		0.572	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
MNAT1	4331	hgsc.bcm.edu	37	14	61285488	61285488	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr14:61285488A>G	ENST00000261245.4	+	6	711	c.610A>G	c.(610-612)Aga>Gga	p.R204G	MNAT1_ENST00000539616.2_Intron	NM_002431.3	NP_002422.1	P51948	MAT1_HUMAN	MNAT CDK-activating kinase assembly factor 1	204					7-methylguanosine mRNA capping (GO:0006370)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to calcium ion (GO:0051592)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|ventricular system development (GO:0021591)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0174)		GCATAAAGATAGATCTACCCA	0.363								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)																																									0			14											77.0	77.0	77.0					14																	61285488		2203	4300	6503	60355241	SO:0001583	missense	4331			X87843	CCDS9750.1, CCDS53899.1	14q23	2013-07-31	2013-07-31		ENSG00000020426	ENSG00000020426		"""RING-type (C3HC4) zinc fingers"", ""General transcription factor IIH complex subunits"""	7181	protein-coding gene	gene with protein product	"""CDK-activating kinase assembly factor"""	602659	"""menage a trois 1 (CAK assembly factor)"", ""menage a trois homolog 1, cyclin H assembly factor (Xenopus laevis)"""			9465303	Standard	NM_002431		Approved	MAT1, RNF66	uc001xfd.3	P51948	OTTHUMG00000152340	ENST00000261245.4:c.610A>G	14.37:g.61285488A>G	ENSP00000261245:p.Arg204Gly		60355241	G3V1U8|Q15817|Q6ICQ7	Missense_Mutation	SNP	ENST00000261245.4	37	CCDS9750.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.988120	0.35036	.	.	ENSG00000020426	ENST00000261245;ENST00000554002;ENST00000557134	T;T	0.47869	0.87;0.83	5.87	4.75	0.60458	Cdk-activating kinase assembly factor MAT1, centre (1);	0.043838	0.85682	D	0.000000	T	0.43500	0.1250	L	0.58810	1.83	0.80722	D	1	P	0.38280	0.625	B	0.34536	0.185	T	0.41378	-0.9512	10	0.51188	T	0.08	-6.0627	12.8736	0.57978	0.563:0.437:0.0:0.0	.	204	P51948	MAT1_HUMAN	G	204;99;64	ENSP00000261245:R204G;ENSP00000451017:R64G	ENSP00000261245:R204G	R	+	1	2	MNAT1	60355241	0.999000	0.42202	0.982000	0.44146	0.543000	0.35085	1.655000	0.37345	1.182000	0.42928	0.533000	0.62120	AGA		0.363	MNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276956.1	NM_002431	
RHOJ	57381	hgsc.bcm.edu	37	14	63747827	63747827	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr14:63747827G>A	ENST00000316754.3	+	3	838	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	RHOJ_ENST00000555125.1_Missense_Mutation_p.V126M	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	126					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CATGCCTCACGTGCCTTATGT	0.532																																																	0			14											124.0	96.0	106.0					14																	63747827		2203	4300	6503	62817580	SO:0001583	missense	57381			AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.376G>A	14.37:g.63747827G>A	ENSP00000316729:p.Val126Met		62817580	Q96KC1	Missense_Mutation	SNP	ENST00000316754.3	37	CCDS9757.1	.	.	.	.	.	.	.	.	.	.	G	34	5.305812	0.95629	.	.	ENSG00000126785	ENST00000316754;ENST00000555125	T;T	0.79141	-1.24;-1.24	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	M	0.85710	2.77	0.80722	D	1	P	0.51147	0.942	P	0.47162	0.54	D	0.87270	0.2285	10	0.87932	D	0	.	20.2147	0.98293	0.0:0.0:1.0:0.0	.	126	Q9H4E5	RHOJ_HUMAN	M	126	ENSP00000316729:V126M;ENSP00000451643:V126M	ENSP00000316729:V126M	V	+	1	0	RHOJ	62817580	1.000000	0.71417	0.972000	0.41901	0.942000	0.58702	9.844000	0.99494	2.785000	0.95823	0.591000	0.81541	GTG		0.532	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3		
CEP170B	283638	hgsc.bcm.edu	37	14	105352895	105352895	+	Silent	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr14:105352895C>T	ENST00000414716.3	+	12	2547	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	CEP170B_ENST00000556508.1_Silent_p.P703P|CEP170B_ENST00000418279.1_Silent_p.P703P|CEP170B_ENST00000453495.1_Silent_p.P774P	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	773						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GCAGGAGCCCCCAGGAGGGGC	0.697																																																	0			14											8.0	10.0	9.0					14																	105352895		1841	4028	5869	104423940	SO:0001819	synonymous_variant	283638			AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.2319C>T	14.37:g.105352895C>T			104423940	Q2KHR7|Q86TI7	Silent	SNP	ENST00000414716.3	37	CCDS45175.1																																																																																				0.697	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	NM_001112726	
ZNF461	92283	hgsc.bcm.edu	37	19	37130437	37130437	+	Missense_Mutation	SNP	T	T	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr19:37130437T>G	ENST00000588268.1	-	6	1037	c.810A>C	c.(808-810)gaA>gaC	p.E270D	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Missense_Mutation_p.E247D	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	270					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(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CATAGCGTTTTTCACCATTAT	0.353																																																	0			19											55.0	59.0	58.0					19																	37130437		2166	4275	6441	41822277	SO:0001583	missense	92283			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.810A>C	19.37:g.37130437T>G	ENSP00000467931:p.Glu270Asp		41822277	A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258760	0.39896	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	T	0.26810	1.71	3.71	0.366	0.16136	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22589	0.0545	L	0.60904	1.88	0.22541	N	0.999004	B;B;B	0.31351	0.0;0.32;0.0	B;B;B	0.33620	0.003;0.167;0.005	T	0.32929	-0.9888	9	0.72032	D	0.01	.	2.7062	0.05163	0.2278:0.404:0.0:0.3682	.	247;192;270	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	D	270;1;247;143	ENSP00000353515:E247D	ENSP00000353515:E247D	E	-	3	2	ZNF461	41822277	0.955000	0.32602	0.980000	0.43619	0.935000	0.57460	0.070000	0.14573	0.132000	0.18615	0.477000	0.44152	GAA		0.353	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
ZNF461	92283	hgsc.bcm.edu	37	19	37130439	37130439	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr19:37130439C>A	ENST00000588268.1	-	6	1035	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Nonsense_Mutation_p.E247*	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	270					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(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TAGCGTTTTTCACCATTATGA	0.358																																																	0			19											56.0	60.0	58.0					19																	37130439		2166	4277	6443	41822279	SO:0001587	stop_gained	92283			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.808G>T	19.37:g.37130439C>A	ENSP00000467931:p.Glu270*		41822279	A8K9W9|Q6VSF7|Q9ULZ8	Nonsense_Mutation	SNP	ENST00000588268.1	37	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	C	37	6.564350	0.97667	.	.	ENSG00000197808	ENST00000396893;ENST00000396896;ENST00000360357;ENST00000540605	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	5.8631	0.18760	0.0:0.7756:0.0:0.2244	.	.	.	.	X	270;1;247;143	.	ENSP00000353515:E247X	E	-	1	0	ZNF461	41822279	0.855000	0.29742	0.987000	0.45799	0.903000	0.53119	1.683000	0.37638	2.066000	0.61787	0.585000	0.79938	GAA		0.358	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
PSG3	5671	hgsc.bcm.edu	37	19	43233949	43233949	+	Silent	SNP	T	T	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr19:43233949T>A	ENST00000327495.5	-	4	1153	c.969A>T	c.(967-969)ccA>ccT	p.P323P	PSG3_ENST00000595140.1_Silent_p.P323P	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	323	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCAGGGTGACTGGGTAACTGC	0.488																																																	0			19											156.0	141.0	147.0					19																	43233949		1511	2709	4220	47925789	SO:0001819	synonymous_variant	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.969A>T	19.37:g.43233949T>A			47925789	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Silent	SNP	ENST00000327495.5	37	CCDS12611.1																																																																																				0.488	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016	
LIG1	3978	hgsc.bcm.edu	37	19	48657141	48657141	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr19:48657141T>C	ENST00000263274.7	-	6	873	c.454A>G	c.(454-456)Aag>Gag	p.K152E	LIG1_ENST00000427526.2_Missense_Mutation_p.K122E|LIG1_ENST00000536218.1_Intron|LIG1_ENST00000599165.1_Intron	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	152			K -> E (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.K152E(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	tcctcctccttcttcctcttg	0.582								Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	large_intestine(1)	19											196.0	113.0	141.0					19																	48657141		2203	4300	6503	53348953	SO:0001583	missense	26018				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.454A>G	19.37:g.48657141T>C	ENSP00000263274:p.Lys152Glu		53348953	B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	T	6.303	0.423919	0.11928	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526	T;T	0.58506	0.44;0.33	3.99	3.99	0.46301	.	0.866238	0.10215	N	0.701604	T	0.46908	0.1417	L	0.54323	1.7	0.80722	D	1	B;B	0.30482	0.281;0.231	B;B	0.27608	0.081;0.027	T	0.33445	-0.9868	10	0.05959	T	0.93	-18.4584	9.5636	0.39385	0.0:0.0:0.0:1.0	.	122;152	B4DTU4;P18858	.;DNLI1_HUMAN	E	152;184;122	ENSP00000263274:K152E;ENSP00000442841:K122E	ENSP00000263274:K152E	K	-	1	0	LIG1	53348953	0.563000	0.26594	0.998000	0.56505	0.189000	0.23516	1.790000	0.38734	2.028000	0.59812	0.496000	0.49642	AAG		0.582	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234	
KIR2DL3	3804	hgsc.bcm.edu	37	19	55258812	55258812	+	Silent	SNP	A	A	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr19:55258812A>T	ENST00000342376.3	+	5	721	c.690A>T	c.(688-690)tcA>tcT	p.S230S	KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	230					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GTTGGCCTTCACCCACTGAAC	0.488																																																	0			19											104.0	90.0	95.0					19																	55258812		1478	2618	4096	59950624	SO:0001819	synonymous_variant	3804			L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.690A>T	19.37:g.55258812A>T			59950624	O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Silent	SNP	ENST00000342376.3	37	CCDS33107.1																																																																																				0.488	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1		
EFCAB1	79645	hgsc.bcm.edu	37	8	49642320	49642320	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr8:49642320C>T	ENST00000262103.3	-	4	510	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	EFCAB1_ENST00000433756.1_Missense_Mutation_p.E92K|EFCAB1_ENST00000523092.1_Missense_Mutation_p.E92K|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	144							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTAATTCCTTCATCAGGGTCT	0.358																																																	0			8											106.0	102.0	103.0					8																	49642320		2202	4300	6502	49804873	SO:0001583	missense	79645				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.430G>A	8.37:g.49642320C>T	ENSP00000262103:p.Glu144Lys		49804873	B4DSB4|E7EVN7	Missense_Mutation	SNP	ENST00000262103.3	37	CCDS6145.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472495	0.96274	.	.	ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092	T;T;T	0.53423	0.62;0.62;0.62	5.46	5.46	0.80206	EF-hand-like domain (1);	0.041957	0.85682	D	0.000000	T	0.74176	0.3682	M	0.88031	2.925	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.966;1.0	T	0.78661	-0.2117	10	0.87932	D	0	.	16.8609	0.86018	0.0:1.0:0.0:0.0	.	92;144	Q9HAE3-2;Q9HAE3	.;EFCB1_HUMAN	K	92;144;144;92	ENSP00000400873:E92K;ENSP00000262103:E144K;ENSP00000430765:E92K	ENSP00000262103:E144K	E	-	1	0	EFCAB1	49804873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.441000	0.80485	2.840000	0.97914	0.655000	0.94253	GAA		0.358	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377778.1	NM_024593	
CSPP1	79848	hgsc.bcm.edu	37	8	68087633	68087633	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr8:68087633A>G	ENST00000262210.5	+	24	3087	c.3056A>G	c.(3055-3057)aAg>aGg	p.K1019R	CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_3'UTR|CSPP1_ENST00000412460.1_Missense_Mutation_p.K674R	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1054					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GAGCAGCAGAAGAGGCTGAAC	0.428																																																	0			8											56.0	55.0	55.0					8																	68087633		1907	4120	6027	68250187	SO:0001583	missense	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3056A>G	8.37:g.68087633A>G	ENSP00000262210:p.Lys1019Arg		68250187	A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060839	0.36373	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.33438	1.41;1.44;1.44	4.8	2.1	0.27182	.	0.232657	0.35291	N	0.003310	T	0.17959	0.0431	N	0.25380	0.74	0.80722	D	1	B;B;B;B	0.14805	0.011;0.008;0.011;0.004	B;B;B;B	0.16722	0.016;0.009;0.016;0.011	T	0.08513	-1.0718	10	0.20046	T	0.44	-13.3239	7.5124	0.27581	0.7184:0.0:0.2816:0.0	.	177;674;1019;1054	Q9H688;Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5	.;.;.;CSPP1_HUMAN	R	1019;1054;674;674	ENSP00000262210:K1019R;ENSP00000415782:K674R;ENSP00000430092:K674R	ENSP00000262210:K1019R	K	+	2	0	CSPP1	68250187	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	1.380000	0.34351	0.203000	0.20529	0.482000	0.46254	AAG		0.428	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
PREX2	80243	hgsc.bcm.edu	37	8	68989671	68989671	+	Missense_Mutation	SNP	G	G	T	rs147538692	byFrequency	TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr8:68989671G>T	ENST00000288368.4	+	15	1886	c.1609G>T	c.(1609-1611)Gtt>Ttt	p.V537F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	537	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.		V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.V537I(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GATATTTGGCGTTGGACTCTG	0.443																																																	1	Substitution - Missense(1)	large_intestine(1)	8											200.0	178.0	185.0					8																	68989671		2203	4300	6503	69152225	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1609G>T	8.37:g.68989671G>T	ENSP00000288368:p.Val537Phe		69152225	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490851	0.64074	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.21932	1.98	5.58	-4.1	0.03940	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.486385	0.21108	N	0.080024	T	0.33352	0.0860	L	0.47716	1.5	0.36635	D	0.876542	D;P;D	0.89917	1.0;0.933;0.966	D;D;D	0.77557	0.99;0.915;0.936	T	0.09975	-1.0650	10	0.72032	D	0.01	.	13.6045	0.62039	0.6098:0.0:0.3902:0.0	.	537;537;537	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	F	537	ENSP00000288368:V537F	ENSP00000288368:V537F	V	+	1	0	PREX2	69152225	0.973000	0.33851	0.003000	0.11579	0.985000	0.73830	1.795000	0.38784	-1.201000	0.02659	-0.237000	0.12165	GTT		0.443	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
EIF3E	3646	hgsc.bcm.edu	37	8	109240603	109240603	+	Silent	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr8:109240603A>G	ENST00000220849.5	-	7	677	c.615T>C	c.(613-615)ctT>ctC	p.L205L	EIF3E_ENST00000519030.1_Silent_p.L112L|RP11-35G22.1_ENST00000520037.1_RNA|EIF3E_ENST00000519517.1_5'UTR	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			GAAGAGACTGAAGTGGAGAAC	0.348																																					GBM(15;360 410 8460 34179 52246)												0			8											75.0	75.0	75.0					8																	109240603		2203	4300	6503	109309779	SO:0001819	synonymous_variant	3646			U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.615T>C	8.37:g.109240603A>G			109309779		Silent	SNP	ENST00000220849.5	37	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	A	8.734	0.917257	0.17982	.	.	ENSG00000104408	ENST00000522352	.	.	.	5.5	-3.03	0.05429	.	.	.	.	.	T	0.51126	0.1656	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44711	-0.9310	4	.	.	.	-11.5618	7.819	0.29276	0.2882:0.2755:0.4363:0.0	.	.	.	.	P	29	.	.	S	-	1	0	EIF3E	109309779	0.996000	0.38824	0.935000	0.37517	0.974000	0.67602	0.333000	0.19768	-0.844000	0.04184	-1.501000	0.00957	TCA		0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568	
NUDCD1	84955	hgsc.bcm.edu	37	8	110257626	110257626	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr8:110257626C>A	ENST00000239690.4	-	9	1758	c.1384G>T	c.(1384-1386)Gat>Tat	p.D462Y	NUDCD1_ENST00000427660.2_Missense_Mutation_p.D433Y	NM_032869.3	NP_116258.2			NudC domain containing 1											breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			AGTAGGGCATCAACATCATGG	0.413																																																	0			8											161.0	143.0	149.0					8																	110257626		2203	4300	6503	110326802	SO:0001583	missense	84955			AF283302	CCDS6312.1, CCDS47910.1	8q23	2005-02-07			ENSG00000120526	ENSG00000120526			24306	protein-coding gene	gene with protein product		606109				11416219	Standard	NM_032869		Approved	CML66, FLJ14991	uc003ynb.4	Q96RS6	OTTHUMG00000164931	ENST00000239690.4:c.1384G>T	8.37:g.110257626C>A	ENSP00000239690:p.Asp462Tyr		110326802		Missense_Mutation	SNP	ENST00000239690.4	37	CCDS6312.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796219	0.90453	.	.	ENSG00000120526	ENST00000239690;ENST00000427660	T;T	0.54279	0.61;0.58	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.81479	-0.0914	10	0.87932	D	0	-3.9212	18.2178	0.89892	0.0:1.0:0.0:0.0	.	375;462;433	Q96RS6-3;Q96RS6;Q96RS6-2	.;NUDC1_HUMAN;.	Y	462;433	ENSP00000239690:D462Y;ENSP00000410707:D433Y	ENSP00000239690:D462Y	D	-	1	0	NUDCD1	110326802	1.000000	0.71417	0.943000	0.38184	0.980000	0.70556	7.365000	0.79537	2.559000	0.86315	0.650000	0.86243	GAT		0.413	NUDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380996.1	NM_032869	
CSMD3	114788	hgsc.bcm.edu	37	8	113349921	113349921	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr8:113349921C>A	ENST00000297405.5	-	43	6936	c.6692G>T	c.(6691-6693)cGa>cTa	p.R2231L	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2127L|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2191L|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2161L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2231	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R2231Q(2)|p.R2191Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACCATTTCGAAACGGGCG	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							3	Substitution - Missense(3)	kidney(3)	8											92.0	94.0	93.0					8																	113349921		2203	4300	6503	113419097	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6692G>T	8.37:g.113349921C>A	ENSP00000297405:p.Arg2231Leu		113419097	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429064	0.62844	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.64	5.64	0.86602	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000008	T	0.65004	0.2650	N	0.11845	0.185	0.48830	D	0.999712	D;P;B	0.76494	0.999;0.895;0.05	D;P;B	0.70227	0.968;0.723;0.033	T	0.63377	-0.6651	10	0.27785	T	0.31	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	2127;2231;2191	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	2191;2231;1501;2127;2161	ENSP00000345799:R2191L;ENSP00000297405:R2231L;ENSP00000341558:R1501L;ENSP00000412263:R2127L;ENSP00000343124:R2161L	ENSP00000297405:R2231L	R	-	2	0	CSMD3	113419097	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.750000	0.62162	2.937000	0.99478	0.650000	0.86243	CGA		0.393	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	
TRPS1	7227	hgsc.bcm.edu	37	8	116430676	116430676	+	Missense_Mutation	SNP	C	C	G	rs549374718		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr8:116430676C>G	ENST00000220888.5	-	5	2825	c.2666G>C	c.(2665-2667)cGt>cCt	p.R889P	TRPS1_ENST00000520276.1_Missense_Mutation_p.R893P|TRPS1_ENST00000395715.3_Missense_Mutation_p.R902P|TRPS1_ENST00000519076.1_Missense_Mutation_p.R643P			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	889					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome																																								0			8											91.0	93.0	92.0					8																	116430676		1913	4124	6037	116499852	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2666G>C	8.37:g.116430676C>G	ENSP00000220888:p.Arg889Pro		116499852	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	C	17.43	3.387411	0.61956	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	D;D;D;D	0.99663	-6.33;-6.33;-6.33;-6.33	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	D	0.99906	1.1179	10	0.87932	D	0	.	20.0805	0.97772	0.0:1.0:0.0:0.0	.	893;889;902	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	P	902;889;643;893	ENSP00000379065:R902P;ENSP00000220888:R889P;ENSP00000428910:R643P;ENSP00000428680:R893P	ENSP00000220888:R889P	R	-	2	0	TRPS1	116499852	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	4.899000	0.63245	2.755000	0.94549	0.650000	0.86243	CGT		0.478	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
IGSF3	3321	hgsc.bcm.edu	37	1	117146492	117146492	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr1:117146492T>C	ENST00000369486.3	-	6	2143	c.1378A>G	c.(1378-1380)Atc>Gtc	p.I460V	IGSF3_ENST00000318837.6_Missense_Mutation_p.I480V|IGSF3_ENST00000369483.1_Missense_Mutation_p.I480V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	460	Ig-like C2-type 4.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCCACATGATATTGCTGCGG	0.647																																																	0			1											71.0	68.0	69.0					1																	117146492		2202	4298	6500	116948015	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1378A>G	1.37:g.117146492T>C	ENSP00000358498:p.Ile460Val		116948015	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	2.598	-0.293562	0.05568	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.68765	-0.35;-0.35;-0.35	5.27	3.92	0.45320	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.201085	0.44688	N	0.000431	T	0.20981	0.0505	L	0.27053	0.805	0.30404	N	0.779707	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.13407	0.005;0.005;0.009	T	0.16897	-1.0387	10	0.02654	T	1	-35.2255	5.9085	0.19014	0.0:0.2589:0.0:0.7411	.	480;460;480	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	V	460;480;480	ENSP00000358498:I460V;ENSP00000358495:I480V;ENSP00000321184:I480V	ENSP00000321184:I480V	I	-	1	0	IGSF3	116948015	0.989000	0.36119	0.992000	0.48379	0.981000	0.71138	2.080000	0.41586	0.816000	0.34421	0.455000	0.32223	ATC		0.647	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
S100A2	6273	hgsc.bcm.edu	37	1	153533948	153533948	+	Silent	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr1:153533948A>G	ENST00000368708.3	-	3	633	c.261T>C	c.(259-261)aaT>aaC	p.N87N	S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368709.1_Silent_p.N87N|S100A2_ENST00000487430.2_Silent_p.N87N|S100A2_ENST00000368710.1_Silent_p.N87N|S100A2_ENST00000497140.1_Silent_p.N54N	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	88					endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	GGAAGAAGTCATTGCACATGA	0.532																																																	0			1											191.0	183.0	185.0					1																	153533948		2203	4300	6503	151800572	SO:0001819	synonymous_variant	6273			BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.261T>C	1.37:g.153533948A>G			151800572	O00266|Q3KRB9|Q5RHS8|Q9BU83	Silent	SNP	ENST00000368708.3	37	CCDS1044.1																																																																																				0.532	S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978	
ACBD6	84320	hgsc.bcm.edu	37	1	180366655	180366655	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr1:180366655C>T	ENST00000367595.3	-	6	1346	c.659G>A	c.(658-660)tGt>tAt	p.C220Y	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	220						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						TCTTACCTGACAGTTAATGTC	0.363																																																	0			1											154.0	160.0	158.0					1																	180366655		2203	4300	6503	178633278	SO:0001583	missense	84320			BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.659G>A	1.37:g.180366655C>T	ENSP00000356567:p.Cys220Tyr		178633278		Missense_Mutation	SNP	ENST00000367595.3	37	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168997	0.38315	.	.	ENSG00000135847	ENST00000367595	T	0.64085	-0.08	5.67	4.75	0.60458	Ankyrin repeat-containing domain (4);	0.330869	0.37053	N	0.002262	T	0.61211	0.2329	L	0.28694	0.88	0.30074	N	0.809823	D	0.56287	0.975	P	0.51974	0.686	T	0.63919	-0.6528	10	0.54805	T	0.06	-4.4325	14.6262	0.68624	0.0:0.8544:0.1456:0.0	.	220	Q9BR61	ACBD6_HUMAN	Y	220	ENSP00000356567:C220Y	ENSP00000356567:C220Y	C	-	2	0	ACBD6	178633278	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	1.431000	0.34925	1.379000	0.46325	0.467000	0.42956	TGT		0.363	ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	
LGR6	59352	hgsc.bcm.edu	37	1	202273693	202273693	+	Silent	SNP	G	G	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr1:202273693G>T	ENST00000367278.3	+	11	1094	c.1005G>T	c.(1003-1005)ctG>ctT	p.L335L	LGR6_ENST00000439764.2_Silent_p.L196L|LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.L283L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	335					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GCAGGACCCTGACCCGCGCAG	0.632																																																	0			1											39.0	42.0	41.0					1																	202273693		2203	4300	6503	200540316	SO:0001819	synonymous_variant	59352			AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.1005G>T	1.37:g.202273693G>T			200540316	Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Silent	SNP	ENST00000367278.3	37	CCDS30971.1																																																																																				0.632	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636	
RYR2	6262	hgsc.bcm.edu	37	1	237666611	237666611	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr1:237666611C>T	ENST00000366574.2	+	22	2736	c.2419C>T	c.(2419-2421)Cga>Tga	p.R807*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.R805*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.R791*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	807	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTGGAGGGCGACATGGAGA	0.403																																																	0			1											67.0	63.0	64.0					1																	237666611		1905	4115	6020	235733234	SO:0001587	stop_gained	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.2419C>T	1.37:g.237666611C>T	ENSP00000355533:p.Arg807*		235733234	Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	40	8.491584	0.98834	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	.	.	.	5.73	0.569	0.17340	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6868	0.85310	0.3242:0.6758:0.0:0.0	.	.	.	.	X	807;805;791	.	ENSP00000353174:R805X	R	+	1	2	RYR2	235733234	0.997000	0.39634	0.997000	0.53966	0.978000	0.69477	3.518000	0.53451	0.242000	0.21303	0.655000	0.94253	CGA		0.403	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR2M2	391194	hgsc.bcm.edu	37	1	248343348	248343348	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr1:248343348A>G	ENST00000359682.2	+	1	61	c.61A>G	c.(61-63)Agc>Ggc	p.S21G		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	21						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCAATCACAGCCCACCACA	0.468																																																	0			1											240.0	235.0	237.0					1																	248343348		2203	4300	6503	246409971	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.61A>G	1.37:g.248343348A>G	ENSP00000352710:p.Ser21Gly		246409971	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	9.703	1.154939	0.21371	.	.	ENSG00000198601	ENST00000359682	T	0.02974	4.09	0.855	0.855	0.19013	.	0.215514	0.22966	U	0.053495	T	0.02610	0.0079	L	0.42632	1.34	0.09310	N	1	P	0.45672	0.864	B	0.41332	0.354	T	0.43458	-0.9390	10	0.62326	D	0.03	.	2.7475	0.05271	0.5408:0.2718:0.1873:0.0	.	21	Q96R28	OR2M2_HUMAN	G	21	ENSP00000352710:S21G	ENSP00000352710:S21G	S	+	1	0	OR2M2	246409971	0.000000	0.05858	0.034000	0.17996	0.248000	0.25809	0.054000	0.14205	0.651000	0.30788	0.248000	0.18094	AGC		0.468	OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
DKK3	27122	hgsc.bcm.edu	37	11	11988507	11988507	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr11:11988507G>A	ENST00000396505.2	-	6	905	c.667C>T	c.(667-669)Cag>Tag	p.Q223*	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Nonsense_Mutation_p.Q223*|DKK3_ENST00000450094.2_Nonsense_Mutation_p.Q195*|DKK3_ENST00000326932.4_Nonsense_Mutation_p.Q223*	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	223	DKK-type Cys-2.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		TCACCTCTCTGGAAGGCACAG	0.602											OREG0020766	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11											78.0	76.0	77.0					11																	11988507		2201	4294	6495	11945083	SO:0001587	stop_gained	27122			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.667C>T	11.37:g.11988507G>A	ENSP00000379762:p.Gln223*	676	11945083	A8K1I2|D3DQW1|Q9ULB7	Nonsense_Mutation	SNP	ENST00000396505.2	37	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	G	37	6.264078	0.97426	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914;ENST00000533813	.	.	.	5.14	5.14	0.70334	.	0.164588	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-23.544	12.6624	0.56822	0.0805:0.0:0.9195:0.0	.	.	.	.	X	223;223;166;223;195;67;223	.	ENSP00000314730:Q67X	Q	-	1	0	DKK3	11945083	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.392000	0.73213	2.379000	0.81126	0.655000	0.94253	CAG		0.602	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253	
OR5B2	390190	hgsc.bcm.edu	37	11	58190275	58190275	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr11:58190275C>T	ENST00000302581.2	-	1	511	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGGAATGAGGCATTTAGGAAG	0.493																																																	0			11											72.0	63.0	66.0					11																	58190275		2201	4295	6496	57946851	SO:0001583	missense	390190			AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.460G>A	11.37:g.58190275C>T	ENSP00000303076:p.Ala154Thr		57946851	B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	C	9.723	1.160226	0.21454	.	.	ENSG00000172365	ENST00000302581	T	0.39056	1.1	3.73	-3.8	0.04307	GPCR, rhodopsin-like superfamily (1);	0.839861	0.09676	U	0.770413	T	0.41811	0.1175	L	0.58810	1.83	0.09310	N	1	P	0.40476	0.718	B	0.41813	0.367	T	0.51926	-0.8643	10	0.66056	D	0.02	-5.2047	14.3488	0.66685	0.7189:0.2811:0.0:0.0	.	154	Q96R09	OR5B2_HUMAN	T	154	ENSP00000303076:A154T	ENSP00000303076:A154T	A	-	1	0	OR5B2	57946851	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.785000	0.00367	-0.382000	0.07870	-0.291000	0.09656	GCC		0.493	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566	
GANAB	23193	hgsc.bcm.edu	37	11	62414063	62414063	+	Silent	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr11:62414063C>T	ENST00000356638.3	-	1	25	c.9G>A	c.(7-9)gcG>gcA	p.A3A	GANAB_ENST00000540933.1_5'UTR|GANAB_ENST00000346178.4_Silent_p.A3A|GANAB_ENST00000534779.1_Silent_p.A3A	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	3					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CTGCCGCTACCGCCGCCATCT	0.682																																					Melanoma(23;1005 1074 15747 18937)												0			11											25.0	29.0	28.0					11																	62414063		2201	4298	6499	62170639	SO:0001819	synonymous_variant	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.9G>A	11.37:g.62414063C>T			62170639	A6NC20|Q8WTS9|Q9P0X0	Silent	SNP	ENST00000356638.3	37	CCDS8026.1																																																																																				0.682	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	
C2CD3	26005	hgsc.bcm.edu	37	11	73843994	73843994	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr11:73843994C>A	ENST00000334126.7	-	7	1338	c.1112G>T	c.(1111-1113)cGg>cTg	p.R371L	C2CD3_ENST00000539061.1_Missense_Mutation_p.R371L|C2CD3_ENST00000313663.7_Missense_Mutation_p.R371L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	371					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.R371P(1)|p.R371Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GTCTTTAAACCGATTCCTAGA	0.388																																																	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	11											171.0	155.0	160.0					11																	73843994		2200	4293	6493	73521642	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1112G>T	11.37:g.73843994C>A	ENSP00000334379:p.Arg371Leu		73521642	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.07|13.07	2.128638|2.128638	0.37533|0.37533	.|.	.|.	ENSG00000168014|ENSG00000168014	ENST00000289350|ENST00000334126;ENST00000313663;ENST00000313681;ENST00000539061	.|T;T	.|0.09163	.|3.01;3.02	5.2|5.2	-0.211|-0.211	0.13172|0.13172	.|.	.|1.109980	.|0.06889	.|N	.|0.803948	T|T	0.03959|0.03959	0.0111|0.0111	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.26512	.|0.015;0.151	.|B;B	.|0.19391	.|0.016;0.025	T|T	0.44112|0.44112	-0.9349|-0.9349	6|10	0.39692|0.11182	T|T	0.17|0.66	6.7573|6.7573	5.9902|5.9902	0.19456|0.19456	0.0:0.3639:0.2564:0.3797|0.0:0.3639:0.2564:0.3797	.|.	.|371;371	.|Q4AC94;Q4AC94-1	.|C2CD3_HUMAN;.	C|L	371|371	.|ENSP00000334379:R371L;ENSP00000323339:R371L	ENSP00000289350:G371C|ENSP00000323339:R371L	G|R	-|-	1|2	0|0	C2CD3|C2CD3	73521642|73521642	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.144000|0.144000	0.21451|0.21451	0.034000|0.034000	0.13776|0.13776	-0.270000|-0.270000	0.09285|0.09285	-0.254000|-0.254000	0.11334|0.11334	GGT|CGG		0.388	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	
ATM	472	hgsc.bcm.edu	37	11	108205780	108205780	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr11:108205780C>A	ENST00000452508.2	+	56	8284	c.8095C>A	c.(8095-8097)Cca>Aca	p.P2699T	ATM_ENST00000278616.4_Missense_Mutation_p.P2699T|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2699					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)	p.P2699S(2)		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)	TGTAAATTTACCAAAAATAAT	0.398			"""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"""	2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)	11											98.0	97.0	98.0					11																	108205780		2201	4298	6499	107710990	SO:0001583	missense	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.8095C>A	11.37:g.108205780C>A	ENSP00000388058:p.Pro2699Thr		107710990	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642621	0.87859	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.94046	-3.34;-3.34	5.67	4.74	0.60224	Protein kinase-like domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.98052	0.9358	H	0.98027	4.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99461	1.0943	10	0.87932	D	0	.	15.8575	0.78989	0.1367:0.8633:0.0:0.0	.	2699	Q13315	ATM_HUMAN	T	2699	ENSP00000278616:P2699T;ENSP00000388058:P2699T	ENSP00000278616:P2699T	P	+	1	0	ATM	107710990	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.230000	0.78097	1.351000	0.45789	0.655000	0.94253	CCA		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
PKHD1	5314	hgsc.bcm.edu	37	6	51921513	51921513	+	Missense_Mutation	SNP	C	C	T	rs142896856	byFrequency	TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr6:51921513C>T	ENST00000371117.3	-	18	1951	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.R559Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	559					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATCCAAGCCGGAGAAGGAT	0.398													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20939	0.0		0.001	False		,,,				2504	0.0																0			6						C	GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	128.0	135.0	133.0		1676,1676	1.6	0.0	6	dbSNP_134	133	8,8592	6.4+/-24.3	0,8,4292	yes	missense,missense	PKHD1	NM_138694.3,NM_170724.2	43,43	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	possibly-damaging,possibly-damaging	559/4075,559/3397	51921513	10,12996	2203	4300	6503	52029472	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.1676G>A	6.37:g.51921513C>T	ENSP00000360158:p.Arg559Gln		52029472	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	CCDS4935.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.780	0.512837	0.12944	4.54E-4	9.3E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.87571	-2.27;-2.27	5.4	1.6	0.23607	.	0.972088	0.08456	N	0.943106	T	0.71316	0.3325	L	0.40543	1.245	0.09310	N	1	D;D	0.56521	0.969;0.976	P;B	0.45474	0.482;0.289	T	0.59726	-0.7400	10	0.29301	T	0.29	.	8.3453	0.32270	0.0:0.674:0.0:0.326	.	559;559	P08F94-2;P08F94	.;PKHD1_HUMAN	Q	559	ENSP00000360158:R559Q;ENSP00000341097:R559Q	ENSP00000341097:R559Q	R	-	2	0	PKHD1	52029472	0.006000	0.16342	0.024000	0.17045	0.132000	0.20833	0.595000	0.24029	0.271000	0.22005	0.462000	0.41574	CGG		0.398	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
GPR126	57211	hgsc.bcm.edu	37	6	142764633	142764633	+	3'UTR	SNP	G	G	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr6:142764633G>T	ENST00000230173.6	+	0	4256				GPR126_ENST00000367609.3_Missense_Mutation_p.S1245I|GPR126_ENST00000367608.2_Missense_Mutation_p.S1217I|GPR126_ENST00000296932.8_3'UTR	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		GACACCTTCAGCCACAGCACA	0.358																																																	0			6											97.0	93.0	95.0					6																	142764633		1877	4110	5987	142806326	SO:0001624	3_prime_UTR_variant	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.*114G>T	6.37:g.142764633G>T			142806326	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577227	0.86645	.	.	ENSG00000112414	ENST00000367608;ENST00000367609	T;T	0.31247	1.5;1.5	6.17	6.17	0.99709	.	0.079820	0.53938	D	0.000051	T	0.22282	0.0537	N	0.22421	0.69	0.31184	N	0.70168	P;D;D	0.53885	0.883;0.963;0.963	B;P;P	0.48270	0.368;0.572;0.572	T	0.03354	-1.1045	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	305;1217;1245	B4DSK4;Q86SQ4-4;Q86SQ4-3	.;.;.	I	1217;1245	ENSP00000356580:S1217I;ENSP00000356581:S1245I	ENSP00000356580:S1217I	S	+	2	0	GPR126	142806326	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.956000	0.76013	2.941000	0.99782	0.655000	0.94253	AGC		0.358	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2		
LTV1	84946	hgsc.bcm.edu	37	6	144171288	144171288	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr6:144171288T>C	ENST00000367576.5	+	4	464	c.330T>C	c.(328-330)ccT>ccC	p.P110P		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	110						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		TTAAGTTGCCTTCATCAGTGT	0.363																																																	0			6											173.0	171.0	172.0					6																	144171288		2203	4300	6503	144212981	SO:0001819	synonymous_variant	84946			BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	ENST00000367576.5:c.330T>C	6.37:g.144171288T>C			144212981	Q96JX8	Silent	SNP	ENST00000367576.5	37	CCDS5201.1																																																																																				0.363	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	NM_032860	
SMG6	23293	hgsc.bcm.edu	37	17	2202717	2202717	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:2202717G>A	ENST00000263073.6	-	2	1380	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W	SMG6_ENST00000544865.1_Missense_Mutation_p.R413W	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	444	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCCCAACTCCGAGATCCCTTA	0.537																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0			17											97.0	110.0	105.0					17																	2202717		2203	4299	6502	2149467	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1330C>T	17.37:g.2202717G>A	ENSP00000263073:p.Arg444Trp		2149467	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.208175	0.58343	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.13307	2.6;2.6	5.54	4.54	0.55810	.	0.132346	0.49305	D	0.000149	T	0.10337	0.0253	N	0.24115	0.695	0.50632	D	0.999883	B	0.30664	0.289	B	0.17722	0.019	T	0.07046	-1.0793	10	0.87932	D	0	-7.9807	15.4398	0.75173	0.0:0.0:0.8599:0.1401	.	444	Q86US8	EST1A_HUMAN	W	444;413	ENSP00000263073:R444W;ENSP00000443920:R413W	ENSP00000263073:R444W	R	-	1	2	SMG6	2149467	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.821000	0.48065	1.273000	0.44346	0.650000	0.86243	CGG		0.537	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
TP53	7157	hgsc.bcm.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:7577568C>T	ENST00000269305.4	-	7	902	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000413465.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000420246.2_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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"""	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	17	GRCh37	CM034930	TP53	M							132.0	103.0	113.0					17																	7577568		2203	4300	6503	7518293	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.713G>A	17.37:g.7577568C>T	ENSP00000269305:p.Cys238Tyr		7518293	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	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327056	0.81690	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238Y;ENSP00000352610:C238Y;ENSP00000269305:C238Y;ENSP00000398846:C238Y;ENSP00000391127:C238Y;ENSP00000391478:C238Y;ENSP00000425104:C106Y;ENSP00000423862:C145Y	ENSP00000269305:C238Y	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SLFN14	342618	hgsc.bcm.edu	37	17	33875615	33875615	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:33875615T>C	ENST00000415846.3	-	4	2417	c.2382A>G	c.(2380-2382)atA>atG	p.I794M		NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	794							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						CATAGTTAGCTATTTGTTCTG	0.493																																																	0			17											142.0	108.0	119.0					17																	33875615		692	1591	2283	30899728	SO:0001583	missense	342618				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.2382A>G	17.37:g.33875615T>C	ENSP00000391101:p.Ile794Met		30899728	B2RTW9	Missense_Mutation	SNP	ENST00000415846.3	37	CCDS45650.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.394901	0.01175	.	.	ENSG00000236320	ENST00000415846	T	0.02085	4.46	5.38	-7.14	0.01527	.	.	.	.	.	T	0.01124	0.0037	N	0.17312	0.475	0.09310	N	0.99999	B	0.22346	0.068	B	0.11329	0.006	T	0.48305	-0.9047	9	0.16420	T	0.52	.	3.4898	0.07633	0.131:0.3268:0.3966:0.1456	.	794	P0C7P3	SLN14_HUMAN	M	794	ENSP00000391101:I794M	ENSP00000391101:I794M	I	-	3	3	SLFN14	30899728	0.000000	0.05858	0.216000	0.23742	0.020000	0.10135	-3.077000	0.00615	-1.488000	0.01847	0.533000	0.62120	ATA		0.493	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448928.1	NM_001129820	
GPR179	440435	hgsc.bcm.edu	37	17	36483854	36483854	+	Silent	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:36483854C>T	ENST00000342292.4	-	11	5618	c.5598G>A	c.(5596-5598)ctG>ctA	p.L1866L	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1866					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GTTGTTGACACAGTTTTGCCA	0.493																																																	0			17											129.0	128.0	128.0					17																	36483854		1948	4145	6093	33737380	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.5598G>A	17.37:g.36483854C>T			33737380		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																				0.493	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2		
DHX8	1659	hgsc.bcm.edu	37	17	41571093	41571093	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:41571093C>T	ENST00000262415.3	+	8	1123	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	DHX8_ENST00000540306.1_Missense_Mutation_p.R351W	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	351					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCCAAATAGACGGCGAAATCT	0.502																																					NSCLC(56;1548 1661 49258 49987)												0			17											210.0	211.0	210.0					17																	41571093		2203	4300	6503	38926619	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1051C>T	17.37:g.41571093C>T	ENSP00000262415:p.Arg351Trp		38926619		Missense_Mutation	SNP	ENST00000262415.3	37	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612982	0.66672	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.03524	3.9;3.9	5.79	5.79	0.91817	Nucleic acid-binding, OB-fold-like (1);	0.051774	0.64402	N	0.000001	T	0.16342	0.0393	M	0.80508	2.5	0.58432	D	0.999997	D;B	0.76494	0.999;0.194	P;B	0.59825	0.864;0.023	T	0.00015	-1.2399	10	0.87932	D	0	.	14.5075	0.67762	0.1558:0.8442:0.0:0.0	.	351;351	F5H658;Q14562	.;DHX8_HUMAN	W	351	ENSP00000437886:R351W;ENSP00000262415:R351W	ENSP00000262415:R351W	R	+	1	2	DHX8	38926619	1.000000	0.71417	0.961000	0.40146	0.992000	0.81027	4.911000	0.63328	2.746000	0.94184	0.561000	0.74099	CGG		0.502	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1		
CACNG5	27091	hgsc.bcm.edu	37	17	64880888	64880888	+	Intron	SNP	C	C	T	rs375595665		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:64880888C>T	ENST00000533854.1	+	5	807				CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000169565.3_Missense_Mutation_p.P227L			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TTTTGGACCCCGGACCACCCA	0.597																																																	0			17						C		0,4406		0,0,2203	106.0	94.0	98.0			-1.2	0.0	17		98	1,8599	1.2+/-3.3	0,1,4299	no	intron	CACNG5	NM_145811.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077			64880888	1,13005	2203	4300	6503	62311350	SO:0001627	intron_variant	140738			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.570+110C>T	17.37:g.64880888C>T			62311350	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	ENST00000533854.1	37	CCDS11665.1	.	.	.	.	.	.	.	.	.	.	C	2.263	-0.368852	0.05069	0.0	1.16E-4	ENSG00000075429	ENST00000169565	T	0.55588	0.51	2.65	-1.2	0.09554	.	0.794422	0.10542	N	0.662599	T	0.35278	0.0926	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27571	-1.0070	6	.	.	.	-2.1846	3.7815	0.08682	0.0:0.2482:0.2159:0.5359	.	.	.	.	L	227	ENSP00000169565:P227L	.	P	+	2	0	CACNG5	62311350	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.483000	0.06536	-0.284000	0.09102	-0.370000	0.07254	CCG		0.597	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389882.1	NM_014404, NM_145811	
PRKAR1A	5573	hgsc.bcm.edu	37	17	66522010	66522010	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:66522010A>G	ENST00000589228.1	+	7	793	c.665A>G	c.(664-666)aAa>aGa	p.K222R	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.K222R|PRKAR1A_ENST00000588188.2_Missense_Mutation_p.K222R|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.K222R|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.K222R|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.K222R	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	222					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACAAATGTGAAATTGTGGGGC	0.448			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)		yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	0			17											115.0	103.0	107.0					17																	66522010		2203	4300	6503	64033605	SO:0001583	missense	5573	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.665A>G	17.37:g.66522010A>G	ENSP00000464977:p.Lys222Arg		64033605	K7ER48|Q567S7	Missense_Mutation	SNP	ENST00000589228.1	37	CCDS11678.1	.	.	.	.	.	.	.	.	.	.	A	26.9	4.785302	0.90282	.	.	ENSG00000108946	ENST00000358598;ENST00000392711;ENST00000392710;ENST00000536854	D;D;D	0.92446	-3.04;-3.04;-3.04	5.83	5.83	0.93111	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.88880	0.6557	N	0.25332	0.735	0.80722	D	1	B;B	0.27791	0.189;0.189	B;B	0.36719	0.231;0.231	D	0.85899	0.1433	10	0.32370	T	0.25	-35.6973	16.1801	0.81892	1.0:0.0:0.0:0.0	.	222;222	B2R5T5;P10644	.;KAP0_HUMAN	R	222	ENSP00000351410:K222R;ENSP00000376475:K222R;ENSP00000445625:K222R	ENSP00000351410:K222R	K	+	2	0	PRKAR1A	64033605	1.000000	0.71417	0.960000	0.40013	0.994000	0.84299	9.339000	0.96797	2.225000	0.72522	0.455000	0.32223	AAA		0.448	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449884.1		
NPTX1	4884	hgsc.bcm.edu	37	17	78444822	78444822	+	Missense_Mutation	SNP	C	C	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:78444822C>A	ENST00000306773.4	-	5	1247	c.1090G>T	c.(1090-1092)Ggt>Tgt	p.G364C	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	364	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TCAAACCCACCACCCAGAGTG	0.617																																																	0			17											55.0	53.0	54.0					17																	78444822		2203	4300	6503	76059417	SO:0001583	missense	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.1090G>T	17.37:g.78444822C>A	ENSP00000307549:p.Gly364Cys		76059417	B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864498	0.91511	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.23147	1.92	5.41	5.41	0.78517	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.69015	0.3064	H	0.97874	4.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82059	-0.0645	10	0.87932	D	0	-11.6184	18.7866	0.91957	0.0:1.0:0.0:0.0	.	364	Q15818	NPTX1_HUMAN	C	364;126	ENSP00000307549:G364C	ENSP00000307549:G364C	G	-	1	0	NPTX1	76059417	1.000000	0.71417	0.546000	0.28166	0.981000	0.71138	7.749000	0.85096	2.519000	0.84933	0.561000	0.74099	GGT		0.617	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1		
NCAM2	4685	hgsc.bcm.edu	37	21	22710714	22710714	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr21:22710714C>T	ENST00000400546.1	+	8	1153	c.904C>T	c.(904-906)Cct>Tct	p.P302S	NCAM2_ENST00000284894.7_Missense_Mutation_p.P160S|NCAM2_ENST00000535285.1_Missense_Mutation_p.P327S	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	302	Ig-like C2-type 4.				axonal fasciculation (GO:0007413)|neuron cell-cell adhesion (GO:0007158)|sensory perception of smell (GO:0007608)	axon (GO:0030424)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P302S(1)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TACAGTACAGCCTCACATAAT	0.358																																																	1	Substitution - Missense(1)	ovary(1)	21											52.0	51.0	51.0					21																	22710714		1838	4079	5917	21632585	SO:0001583	missense	4685				CCDS42910.1	21q21	2013-02-11			ENSG00000154654	ENSG00000154654		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7657	protein-coding gene	gene with protein product		602040				9226371	Standard	NM_004540		Approved	NCAM21, MGC51008	uc002yld.2	O15394	OTTHUMG00000078121	ENST00000400546.1:c.904C>T	21.37:g.22710714C>T	ENSP00000383392:p.Pro302Ser		21632585	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699806	0.88924	.	.	ENSG00000154654	ENST00000400546;ENST00000284894;ENST00000535285	T;T;T	0.78126	-1.15;-1.08;0.63	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91788	0.7402	H	0.94771	3.58	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	0.93456	0.6806	10	0.87932	D	0	-14.2816	18.6141	0.91296	0.0:1.0:0.0:0.0	.	327;160;302	B7Z841;B7Z5K2;O15394	.;.;NCAM2_HUMAN	S	302;160;327	ENSP00000383392:P302S;ENSP00000284894:P160S;ENSP00000441887:P327S	ENSP00000284894:P160S	P	+	1	0	NCAM2	21632585	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.312000	0.65792	2.736000	0.93811	0.591000	0.81541	CCT		0.358	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
ADAMTS1	9510	hgsc.bcm.edu	37	21	28210258	28210258	+	Silent	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr21:28210258A>G	ENST00000284984.3	-	9	2998	c.2544T>C	c.(2542-2544)tcT>tcC	p.S848S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	848	Spacer.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TAGCATTGAAAGATTCCTTCT	0.453																																																	0			21											95.0	94.0	94.0					21																	28210258		2203	4300	6503	27132129	SO:0001819	synonymous_variant	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.2544T>C	21.37:g.28210258A>G			27132129	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	CCDS33524.1																																																																																				0.453	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
UQCRC2	7385	hgsc.bcm.edu	37	16	21968795	21968795	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr16:21968795T>C	ENST00000268379.4	+	3	939	c.175T>C	c.(175-177)Tca>Cca	p.S59P	UQCRC2_ENST00000561553.1_Missense_Mutation_p.S59P	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	59					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		TTCTCCTGTATCAAGAATTGG	0.363																																					Colon(123;450 1645 12841 25393 45623)												0			16											140.0	131.0	134.0					16																	21968795		2198	4300	6498	21876296	SO:0001583	missense	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.175T>C	16.37:g.21968795T>C	ENSP00000268379:p.Ser59Pro		21876296	B3KSN4|Q9BQ05	Missense_Mutation	SNP	ENST00000268379.4	37	CCDS10601.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978180	0.74360	.	.	ENSG00000140740	ENST00000268379	T	0.26518	1.73	5.5	4.39	0.52855	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	M	0.89715	3.055	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.64015	-0.6506	10	0.72032	D	0.01	-9.395	11.943	0.52911	0.0:0.0:0.1456:0.8544	.	59	P22695	QCR2_HUMAN	P	59	ENSP00000268379:S59P	ENSP00000268379:S59P	S	+	1	0	UQCRC2	21876296	1.000000	0.71417	0.727000	0.30756	0.830000	0.47004	4.647000	0.61418	0.994000	0.38892	0.533000	0.62120	TCA		0.363	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254466.1	NM_003366	
ZKSCAN2	342357	hgsc.bcm.edu	37	16	25258106	25258106	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr16:25258106C>G	ENST00000328086.7	-	5	2214	c.1411G>C	c.(1411-1413)Gat>Cat	p.D471H		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	471					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATCATCATCAGAATCTTCT	0.448																																																	0			16											151.0	138.0	142.0					16																	25258106		2197	4300	6497	25165607	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1411G>C	16.37:g.25258106C>G	ENSP00000331626:p.Asp471His		25165607	A1L3B4|Q6ZN77	Missense_Mutation	SNP	ENST00000328086.7	37	CCDS32410.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150788	0.78001	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.09630	2.96	5.57	5.57	0.84162	.	0.084342	0.51477	D	0.000089	T	0.21631	0.0521	M	0.64997	1.995	0.40950	D	0.984536	P;P;D	0.52996	0.898;0.925;0.957	P;P;P	0.50378	0.557;0.639;0.557	T	0.00211	-1.1915	10	0.72032	D	0.01	-15.5771	15.4129	0.74941	0.0:1.0:0.0:0.0	.	267;471;471	B4DYF0;Q63HK3-2;Q63HK3	.;.;ZKSC2_HUMAN	H	471	ENSP00000331626:D471H	ENSP00000331626:D471H	D	-	1	0	ZKSCAN2	25165607	0.997000	0.39634	0.917000	0.36280	0.982000	0.71751	3.839000	0.55835	2.780000	0.95670	0.655000	0.94253	GAT		0.448	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435739.1	NM_001012981	
BCL7C	9274	hgsc.bcm.edu	37	16	30900209	30900209	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr16:30900209T>C	ENST00000215115.4	-	5	1515	c.500A>G	c.(499-501)gAg>gGg	p.E167G	AC106782.20_ENST00000572471.1_RNA|MIR4519_ENST00000564901.1_RNA|MIR4519_ENST00000570025.1_RNA|BCL7C_ENST00000380317.4_Missense_Mutation_p.E167G|MIR4519_ENST00000565573.1_RNA	NM_004765.2	NP_004756.2	Q8WUZ0	BCL7C_HUMAN	B-cell CLL/lymphoma 7C	167	Pro-rich.				apoptotic process (GO:0006915)					large_intestine(1)|lung(3)|prostate(1)|skin(1)	6			Colorectal(24;0.198)			TGGAACAGGCTCCTCCTTGGT	0.587																																																	0			16											95.0	82.0	86.0					16																	30900209		2197	4300	6497	30807710	SO:0001583	missense	9274			AJ223980	CCDS10693.1, CCDS67012.1	16p11	2012-11-19			ENSG00000099385	ENSG00000099385			1006	protein-coding gene	gene with protein product		605847				9931421	Standard	NM_004765		Approved		uc002dzv.3	Q8WUZ0	OTTHUMG00000177719	ENST00000215115.4:c.500A>G	16.37:g.30900209T>C	ENSP00000215115:p.Glu167Gly		30807710	O43770|Q6PD89	Missense_Mutation	SNP	ENST00000215115.4	37	CCDS10693.1	.	.	.	.	.	.	.	.	.	.	T	18.12	3.552899	0.65425	.	.	ENSG00000099385	ENST00000380317;ENST00000215115	T;T	0.56776	0.44;0.48	4.93	4.93	0.64822	.	0.000000	0.52532	D	0.000069	T	0.68988	0.3061	M	0.65498	2.005	0.37500	D	0.916731	D;D	0.76494	0.998;0.999	D;D	0.75484	0.968;0.986	T	0.75425	-0.3322	10	0.62326	D	0.03	-18.4412	12.8285	0.57733	0.0:0.0:0.0:1.0	.	167;167	Q8WUZ0;Q8WUZ0-2	BCL7C_HUMAN;.	G	167	ENSP00000369674:E167G;ENSP00000215115:E167G	ENSP00000215115:E167G	E	-	2	0	BCL7C	30807710	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.561000	0.60809	1.978000	0.57642	0.459000	0.35465	GAG		0.587	BCL7C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255547.3	NM_004765	
SALL1	6299	hgsc.bcm.edu	37	16	51176035	51176035	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr16:51176035G>A	ENST00000251020.4	-	2	131	c.98C>T	c.(97-99)cCg>cTg	p.P33L	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	33					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGGCGACTCGGTTGACCCTT	0.463																																					GBM(103;1352 1446 1855 4775 8890)												0			16											84.0	86.0	85.0					16																	51176035		2197	4299	6496	49733536	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.98C>T	16.37:g.51176035G>A	ENSP00000251020:p.Pro33Leu		49733536	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	7.983	0.751597	0.15778	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.06528	3.29	5.6	5.6	0.85130	.	0.391386	0.31612	N	0.007360	T	0.04272	0.0118	N	0.14661	0.345	0.40593	D	0.981508	B	0.24426	0.103	B	0.11329	0.006	T	0.46275	-0.9203	10	0.40728	T	0.16	.	10.0977	0.42486	0.0723:0.1379:0.7899:0.0	.	33	Q9NSC2	SALL1_HUMAN	L	33	ENSP00000251020:P33L	ENSP00000251020:P33L	P	-	2	0	SALL1	49733536	1.000000	0.71417	0.807000	0.32361	0.771000	0.43674	4.273000	0.58914	2.615000	0.88500	0.650000	0.86243	CCG		0.463	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
KIFC3	3801	hgsc.bcm.edu	37	16	57799530	57799530	+	Silent	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr16:57799530A>G	ENST00000379655.4	-	11	1610	c.1353T>C	c.(1351-1353)cgT>cgC	p.R451R	KIFC3_ENST00000539578.1_Silent_p.R393R|KIFC3_ENST00000465878.2_Silent_p.R312R|KIFC3_ENST00000543930.1_Silent_p.R312R|KIFC3_ENST00000421376.2_Silent_p.R312R|KIFC3_ENST00000541240.1_Silent_p.R473R|KIFC3_ENST00000445690.2_Silent_p.R451R|KIFC3_ENST00000540079.2_Silent_p.R349R|KIFC3_ENST00000562903.1_Silent_p.R312R	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	451	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTGGCCGGACACGAGCAATCA	0.577																																																	0			16											120.0	76.0	91.0					16																	57799530		2197	4300	6497	56357031	SO:0001819	synonymous_variant	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1353T>C	16.37:g.57799530A>G			56357031	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	ENST00000379655.4	37	CCDS10789.2																																																																																				0.577	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257329.2	NM_005550	
MEP1B	4225	hgsc.bcm.edu	37	18	29797058	29797058	+	Nonsense_Mutation	SNP	C	C	T	rs201834412		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr18:29797058C>T	ENST00000269202.6	+	13	1911	c.1864C>T	c.(1864-1866)Cga>Tga	p.R622*	MEP1B_ENST00000581447.1_Nonsense_Mutation_p.R622*	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	622	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGCACTGTTCGAGATGGCAA	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13756	0.0		0.0	False		,,,				2504	0.0																0			18											115.0	108.0	111.0					18																	29797058		1954	4167	6121	28051056	SO:0001587	stop_gained	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.1864C>T	18.37:g.29797058C>T	ENSP00000269202:p.Arg622*		28051056	B7ZM35|B9EGL6|Q670J1	Nonsense_Mutation	SNP	ENST00000269202.6	37	CCDS45846.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	38	7.228143	0.98150	.	.	ENSG00000141434	ENST00000269202	.	.	.	6.08	3.06	0.35304	.	0.809214	0.11285	N	0.579895	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	1.3491	8.2041	0.31443	0.3649:0.3833:0.2518:0.0	.	.	.	.	X	622	.	ENSP00000269202:R622X	R	+	1	2	MEP1B	28051056	0.000000	0.05858	0.009000	0.14445	0.851000	0.48451	0.831000	0.27476	0.809000	0.34255	0.655000	0.94253	CGA		0.398	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1	NM_005925	
LOXHD1	125336	hgsc.bcm.edu	37	18	44098203	44098203	+	Missense_Mutation	SNP	G	G	A	rs535510598		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr18:44098203G>A	ENST00000398722.4	-	27	4453	c.4454C>T	c.(4453-4455)aCg>aTg	p.T1485M	LOXHD1_ENST00000398705.2_Missense_Mutation_p.T2M|LOXHD1_ENST00000582408.1_Missense_Mutation_p.T590M|LOXHD1_ENST00000536736.1_Missense_Mutation_p.T1701M|LOXHD1_ENST00000398686.4_Missense_Mutation_p.T2M|LOXHD1_ENST00000441893.2_Missense_Mutation_p.T634M|LOXHD1_ENST00000579038.1_Missense_Mutation_p.T556M|LOXHD1_ENST00000441551.2_Missense_Mutation_p.T1557M|LOXHD1_ENST00000300591.6_Missense_Mutation_p.T652M			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1485	PLAT 11. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TGTCCACACCGTCATTTCATA	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16783	0.0		0.0	False		,,,				2504	0.0																0			18											79.0	81.0	80.0					18																	44098203		692	1591	2283	42352201	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.4454C>T	18.37:g.44098203G>A	ENSP00000381707:p.Thr1485Met		42352201	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	G	10.50	1.366794	0.24771	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686;ENST00000414184;ENST00000335730;ENST00000452425	T;T;T;T;T;T;T;T	0.64618	-0.11;-0.11;1.46;-0.11;-0.11;1.46;1.46;-0.11	5.09	4.21	0.49690	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.120219	0.53938	D	0.000046	T	0.76256	0.3962	M	0.69823	2.125	0.23483	N	0.99758	D;B;P;D	0.89917	1.0;0.27;0.707;1.0	D;B;B;D	0.87578	0.984;0.06;0.208;0.998	T	0.68337	-0.5435	10	0.66056	D	0.02	.	11.9439	0.52918	0.1469:0.0:0.8531:0.0	.	1701;634;1423;1485	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	M	652;1485;2;1701;634;2;2;1423;19	ENSP00000300591:T652M;ENSP00000381707:T1485M;ENSP00000381692:T2M;ENSP00000444586:T1701M;ENSP00000409062:T634M;ENSP00000381676:T2M;ENSP00000392440:T2M;ENSP00000414278:T19M	ENSP00000300591:T652M	T	-	2	0	LOXHD1	42352201	1.000000	0.71417	0.861000	0.33841	0.735000	0.41995	5.240000	0.65378	1.134000	0.42165	0.455000	0.32223	ACG		0.562	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
SRGAP3	9901	hgsc.bcm.edu	37	3	9036107	9036107	+	Silent	SNP	G	G	A	rs138152185		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:9036107G>A	ENST00000383836.3	-	19	2755	c.2328C>T	c.(2326-2328)cgC>cgT	p.R776R	SRGAP3_ENST00000360413.3_Silent_p.R752R	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	776	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCTCCGAGGCGCGGTGGTACA	0.587			T	RAF1	pilocytic astrocytoma																																			Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0			3											77.0	77.0	77.0					3																	9036107		2203	4300	6503	9011107	SO:0001819	synonymous_variant	9901			AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2328C>T	3.37:g.9036107G>A			9011107	Q8IX13|Q8IZV8	Silent	SNP	ENST00000383836.3	37	CCDS2572.1																																																																																				0.587	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3		
VHL	7428	hgsc.bcm.edu	37	3	10188287	10188287	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:10188287G>A	ENST00000256474.2	+	2	1270	c.430G>A	c.(430-432)Gga>Aga	p.G144R	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	144	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G144*(3)|p.G144R(1)|p.Q145fs*30(1)|p.G144fs*29(1)|p.G144fs*14(1)|p.D143fs*29(1)|p.N141fs*30(1)|p.S139fs*12(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CAATGTTGACGGACAGCCTAT	0.423		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	11	Deletion - Frameshift(6)|Substitution - Nonsense(3)|Insertion - Frameshift(1)|Substitution - Missense(1)	kidney(10)|endometrium(1)	3	GRCh37	CM982008	VHL	M							217.0	200.0	206.0					3																	10188287		2203	4300	6503	10163287	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.430G>A	3.37:g.10188287G>A	ENSP00000256474:p.Gly144Arg		10163287	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677013	0.88445	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99857	-7.22	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99708	0.9888	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97587	1.0114	10	0.33940	T	0.23	-0.306	16.3181	0.82935	0.0:0.0:1.0:0.0	.	144	P40337	VHL_HUMAN	R	144;62	ENSP00000256474:G144R	ENSP00000256474:G144R	G	+	1	0	VHL	10163287	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	5.083000	0.64456	2.530000	0.85305	0.563000	0.77884	GGA		0.423	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
EFHB	151651	hgsc.bcm.edu	37	3	19947113	19947113	+	Splice_Site	SNP	T	T	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:19947113T>A	ENST00000295824.9	-	6	1578	c.1417A>T	c.(1417-1419)Atg>Ttg	p.M473L	EFHB_ENST00000344838.4_Splice_Site_p.M343L|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	473							calcium ion binding (GO:0005509)			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TAAACTTACATTTGTAGTTCA	0.333																																																	0			3											110.0	116.0	114.0					3																	19947113		2203	4300	6503	19922117	SO:0001630	splice_region_variant	151651			AK122616	CCDS33715.2	3p24.3	2014-07-18			ENSG00000163576	ENSG00000163576		"""EF-hand domain containing"""	26330	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 21"""					12477932	Standard	NM_144715		Approved	FLJ25200, CFAP21	uc003cbl.4	Q8N7U6	OTTHUMG00000150505	ENST00000295824.9:c.1418+1A>T	3.37:g.19947113T>A			19922117	A6ND25|A8MPR3|Q6ZWK9|Q8IV58|Q96LQ6	Missense_Mutation	SNP	ENST00000295824.9	37	CCDS33715.2	.	.	.	.	.	.	.	.	.	.	T	1.205	-0.631396	0.03584	.	.	ENSG00000163576	ENST00000295824;ENST00000344838;ENST00000389256;ENST00000440022	T;T;T;T	0.28666	1.94;1.97;2.24;1.6	4.83	3.58	0.41010	.	0.139348	0.50627	D	0.000111	T	0.25158	0.0611	L	0.52573	1.65	0.34572	D	0.713495	B;B	0.16603	0.018;0.013	B;B	0.13407	0.009;0.002	T	0.23547	-1.0185	9	.	.	.	-11.919	9.3014	0.37847	0.0:0.0:0.1807:0.8193	.	343;473	Q8N7U6-3;Q8N7U6	.;EFHB_HUMAN	L	473;343;473;210	ENSP00000295824:M473L;ENSP00000342263:M343L;ENSP00000373908:M473L;ENSP00000396778:M210L	.	M	-	1	0	EFHB	19922117	1.000000	0.71417	1.000000	0.80357	0.073000	0.16967	2.183000	0.42565	1.945000	0.56424	0.402000	0.26972	ATG		0.333	EFHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318673.2	NM_144715	Missense_Mutation
PDCD6IP	10015	hgsc.bcm.edu	37	3	33855080	33855080	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:33855080T>C	ENST00000307296.3	+	3	671	c.294T>C	c.(292-294)gcT>gcC	p.A98A	PDCD6IP_ENST00000498147.1_3'UTR|PDCD6IP_ENST00000457054.2_Silent_p.A98A			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	98	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GGAAGGATGCTTTCGATAAAG	0.318																																																	0			3											161.0	165.0	164.0					3																	33855080		2203	4299	6502	33830084	SO:0001819	synonymous_variant	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.294T>C	3.37:g.33855080T>C			33830084	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Silent	SNP	ENST00000307296.3	37	CCDS2660.1																																																																																				0.318	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
PCBP4	57060	hgsc.bcm.edu	37	3	51994283	51994283	+	Silent	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:51994283G>A	ENST00000461554.1	-	7	640	c.309C>T	c.(307-309)acC>acT	p.T103T	PCBP4_ENST00000322099.7_Silent_p.T103T|PCBP4_ENST00000471622.1_Silent_p.T103T|PCBP4_ENST00000395014.2_Silent_p.T69T|PCBP4_ENST00000395013.3_Silent_p.T26T|PCBP4_ENST00000355852.2_Silent_p.T103T|PCBP4_ENST00000484633.1_Silent_p.T103T|PCBP4_ENST00000428823.2_Silent_p.T103T|RP11-155D18.12_ENST00000488257.1_RNA	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	103	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.					cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CAAGGCGCAGGGTCACTGGAG	0.582																																																	0			3											46.0	46.0	46.0					3																	51994283		2203	4300	6503	51969323	SO:0001819	synonymous_variant	57060			AF176330	CCDS2839.1, CCDS2840.1, CCDS2840.2	3p21	2013-07-16	2001-11-28		ENSG00000090097	ENSG00000090097			8652	protein-coding gene	gene with protein product	"""RNA binding protein MCG10"", ""LYST-interacting protein"", ""alphaCP-4 protein"""	608503	"""poly(rC)-binding protein 4"""			10936052	Standard	NM_033008		Approved	MCG10, LIP4	uc003dch.2	P57723	OTTHUMG00000157366	ENST00000461554.1:c.309C>T	3.37:g.51994283G>A			51969323	Q96AH7	Silent	SNP	ENST00000461554.1	37	CCDS2839.1																																																																																				0.582	PCBP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348597.1	NM_020418	
KIAA1524	57650	hgsc.bcm.edu	37	3	108271109	108271109	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:108271109T>C	ENST00000295746.8	-	20	2595	c.2519A>G	c.(2518-2520)gAa>gGa	p.E840G	KIAA1524_ENST00000491772.1_Missense_Mutation_p.E681G	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	840					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTTATCTGTTCTGTTCTGCT	0.303																																																	0			3											192.0	180.0	184.0					3																	108271109		2200	4298	6498	109753799	SO:0001583	missense	57650			AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2519A>G	3.37:g.108271109T>C	ENSP00000295746:p.Glu840Gly		109753799	A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Missense_Mutation	SNP	ENST00000295746.8	37	CCDS33812.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164872	0.78339	.	.	ENSG00000163507	ENST00000491772;ENST00000295746	T;T	0.31769	3.49;1.48	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.42675	0.1213	M	0.66939	2.045	0.58432	D	0.999991	P	0.51653	0.947	P	0.49477	0.612	T	0.47736	-0.9094	10	0.87932	D	0	-1.9254	14.5013	0.67724	0.0:0.0:0.0:1.0	.	840	Q8TCG1	CIP2A_HUMAN	G	681;840	ENSP00000419487:E681G;ENSP00000295746:E840G	ENSP00000295746:E840G	E	-	2	0	KIAA1524	109753799	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.819000	0.75262	1.816000	0.52996	0.455000	0.32223	GAA		0.303	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890	
FOXL2	668	hgsc.bcm.edu	37	3	138664470	138664470	+	Silent	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:138664470G>A	ENST00000330315.3	-	1	1512	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	C3orf72_ENST00000383165.3_5'Flank|RP11-548O1.3_ENST00000495287.1_lincRNA	NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	365					apoptotic DNA fragmentation (GO:0006309)|cell differentiation (GO:0030154)|embryonic eye morphogenesis (GO:0048048)|extraocular skeletal muscle development (GO:0002074)|female somatic sex determination (GO:0019101)|granulosa cell differentiation (GO:0060014)|menstruation (GO:0042703)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	cysteine-type endopeptidase regulator activity involved in apoptotic process (GO:0043028)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin conjugating enzyme binding (GO:0031624)			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CGCCGGTCTTGCTGTCGTGGT	0.711			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""																																	Dom	yes		3	3q23	668	forkhead box L2	yes	O	0			3											29.0	30.0	29.0					3																	138664470		2200	4296	6496	140147160	SO:0001819	synonymous_variant	668			AF301906	CCDS3105.1	3q23	2008-04-10			ENSG00000183770	ENSG00000183770		"""Forkhead boxes"""	1092	protein-coding gene	gene with protein product		605597		BPES		1941972	Standard	NM_023067		Approved	BPES1	uc003esw.3	P58012	OTTHUMG00000159889	ENST00000330315.3:c.1095C>T	3.37:g.138664470G>A			140147160	Q4ZGJ3	Silent	SNP	ENST00000330315.3	37	CCDS3105.1																																																																																				0.711	FOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357999.1		
GPR149	344758	hgsc.bcm.edu	37	3	154138852	154138852	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:154138852A>T	ENST00000389740.2	-	3	1698	c.1599T>A	c.(1597-1599)agT>agA	p.S533R		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	533					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTCTGATTTACTCCTACACC	0.373																																																	0			3											68.0	61.0	63.0					3																	154138852		1829	4083	5912	155621546	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1599T>A	3.37:g.154138852A>T	ENSP00000374390:p.Ser533Arg		155621546		Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.408937	0.62399	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.15	1.13	0.20643	.	0.081744	0.85682	D	0.000000	T	0.69663	0.3136	M	0.68952	2.095	0.47183	D	0.999345	D	0.89917	1.0	D	0.85130	0.997	T	0.69946	-0.5007	9	0.87932	D	0	-9.3452	9.9643	0.41715	0.6784:0.0:0.3216:0.0	.	533	Q86SP6	GP149_HUMAN	R	533	.	ENSP00000374390:S533R	S	-	3	2	GPR149	155621546	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	0.950000	0.29122	0.390000	0.25115	0.372000	0.22366	AGT		0.373	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580	
GOLIM4	27333	hgsc.bcm.edu	37	3	167750550	167750550	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:167750550C>T	ENST00000470487.1	-	9	1623	c.934G>A	c.(934-936)Gca>Aca	p.A312T	GOLIM4_ENST00000309027.4_Missense_Mutation_p.A284T	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	312	Glu-rich.		A -> V (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		transport (GO:0006810)	cis-Golgi network (GO:0005801)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A312P(1)|p.A312>L(1)		breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAAATTCTGCCTCCTTATGG	0.517																																																	2	Substitution - Missense(1)|Complex - compound substitution(1)	breast(2)	3											123.0	124.0	124.0					3																	167750550		2203	4300	6503	169233244	SO:0001583	missense	27333			U55853	CCDS3204.1	3q26	2007-07-30	2007-07-30	2007-07-30	ENSG00000173905	ENSG00000173905			15448	protein-coding gene	gene with protein product		606805	"""golgi phosphoprotein 4"""	GOLPH4		9201717, 15004235	Standard	NM_014498		Approved	GPP130, GIMPC, P138	uc003ffe.2	O00461	OTTHUMG00000158554	ENST00000470487.1:c.934G>A	3.37:g.167750550C>T	ENSP00000417354:p.Ala312Thr		169233244		Missense_Mutation	SNP	ENST00000470487.1	37	CCDS3204.1	.	.	.	.	.	.	.	.	.	.	C	8.245	0.807722	0.16467	.	.	ENSG00000173905	ENST00000470487;ENST00000309027	.	.	.	5.1	1.25	0.21368	.	1.108700	0.06647	N	0.762100	T	0.33673	0.0871	L	0.57536	1.79	0.09310	N	1	P;P	0.36465	0.554;0.554	B;B	0.29785	0.107;0.107	T	0.18840	-1.0324	9	0.15952	T	0.53	-0.1128	7.3262	0.26557	0.1193:0.6479:0.0:0.2327	.	284;312	F8W785;O00461	.;GOLI4_HUMAN	T	312;284	.	ENSP00000309893:A284T	A	-	1	0	GOLIM4	169233244	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.397000	0.07269	0.184000	0.20083	-1.168000	0.01747	GCA		0.517	GOLIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351278.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178951995	178951995	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:178951995A>G	ENST00000263967.3	+	21	3207	c.3050A>G	c.(3049-3051)gAt>gGt	p.D1017G	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1017	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.D1017V(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)	CAATCTTTTGATGACATTGCA	0.393		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)	lung(1)	3											107.0	95.0	98.0					3																	178951995		1879	4117	5996	180434689	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.3050A>G	3.37:g.178951995A>G	ENSP00000263967:p.Asp1017Gly		180434689	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.897876	0.72639	.	.	ENSG00000121879	ENST00000263967	T	0.80824	-1.42	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	L	0.35288	1.05	0.80722	D	1	D	0.65815	0.995	P	0.56700	0.804	T	0.82131	-0.0609	10	0.42905	T	0.14	-22.9512	16.635	0.85050	1.0:0.0:0.0:0.0	.	1017	P42336	PK3CA_HUMAN	G	1017	ENSP00000263967:D1017G	ENSP00000263967:D1017G	D	+	2	0	PIK3CA	180434689	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.798000	0.91888	2.330000	0.79161	0.477000	0.44152	GAT		0.393	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178952090	178952090	+	Missense_Mutation	SNP	G	G	A	rs121913277		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:178952090G>A	ENST00000263967.3	+	21	3302	c.3145G>A	c.(3145-3147)Ggt>Agt	p.G1049S	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1049	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> S (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)	p.G1049R(27)|p.G1049S(13)		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)	TGCACATCATGGTGGCTGGAC	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"""	40	Substitution - Missense(40)	breast(12)|endometrium(7)|lung(4)|thyroid(3)|large_intestine(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|kidney(2)|ovary(1)|pancreas(1)	3											98.0	88.0	91.0					3																	178952090		1919	4132	6051	180434784	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.3145G>A	3.37:g.178952090G>A	ENSP00000263967:p.Gly1049Ser		180434784	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.396096	0.83011	.	.	ENSG00000121879	ENST00000263967	T	0.78924	-1.22	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.75250	0.3824	N	0.17723	0.515	0.80722	D	1	D	0.53885	0.963	P	0.52627	0.704	T	0.69614	-0.5098	10	0.17369	T	0.5	-16.0151	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1049	P42336	PK3CA_HUMAN	S	1049	ENSP00000263967:G1049S	ENSP00000263967:G1049S	G	+	1	0	PIK3CA	180434784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	GGT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
DCUN1D1	54165	hgsc.bcm.edu	37	3	182681755	182681755	+	Silent	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:182681755A>G	ENST00000292782.4	-	3	456	c.303T>C	c.(301-303)agT>agC	p.S101S	DCUN1D1_ENST00000469954.1_Silent_p.S86S	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	101	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.					ubiquitin ligase complex (GO:0000151)		p.S101R(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TAATCAACACACTAATGCTGG	0.418																																																	1	Substitution - Missense(1)	ovary(1)	3											152.0	125.0	134.0					3																	182681755		2203	4300	6503	184164449	SO:0001819	synonymous_variant	54165			AF292100, AK056335	CCDS3240.1	3q26.3	2013-06-10	2013-06-10		ENSG00000043093	ENSG00000043093			18184	protein-coding gene	gene with protein product	"""squamous cell carcinoma related oncogene"""	605905	"""DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)"""			10777668, 15988528	Standard	NM_020640		Approved	RP42, SCRO, DCUN1L1, Tes3, SCCRO	uc003fld.1	Q96GG9	OTTHUMG00000158314	ENST00000292782.4:c.303T>C	3.37:g.182681755A>G			184164449	B2RB37|Q7L3G9|Q8TEX7|Q9H6M1|Q9HCT3	Silent	SNP	ENST00000292782.4	37	CCDS3240.1																																																																																				0.418	DCUN1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350658.1	NM_020640	
LRRC15	131578	hgsc.bcm.edu	37	3	194080827	194080827	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr3:194080827G>A	ENST00000347624.3	-	2	1031	c.946C>T	c.(946-948)Ctc>Ttc	p.L316F	LRRC15_ENST00000428839.1_Missense_Mutation_p.L322F|LRRC15_ENST00000439944.2_Missense_Mutation_p.L322F	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	316					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AACTGGCGGAGGTTGCTGAAG	0.582																																																	0			3											52.0	54.0	53.0					3																	194080827		2203	4300	6503	195562122	SO:0001583	missense	131578			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.946C>T	3.37:g.194080827G>A	ENSP00000306276:p.Leu316Phe		195562122	Q495Q6|Q7RTN7	Missense_Mutation	SNP	ENST00000347624.3	37	CCDS3306.1	.	.	.	.	.	.	.	.	.	.	G	16.03	3.006884	0.54361	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.70749	-0.51;-0.51;-0.51	5.09	4.22	0.49857	.	0.000000	0.64402	D	0.000019	T	0.81322	0.4798	L	0.61387	1.9	0.50632	D	0.999884	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.83121	-0.0118	10	0.72032	D	0.01	.	13.6329	0.62206	0.0751:0.0:0.9249:0.0	.	316;322	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	F	316;322;322	ENSP00000306276:L316F;ENSP00000389128:L322F;ENSP00000413707:L322F	ENSP00000306276:L316F	L	-	1	0	LRRC15	195562122	1.000000	0.71417	0.803000	0.32268	0.658000	0.38924	5.457000	0.66672	1.293000	0.44690	0.655000	0.94253	CTC		0.582	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2		
A2M	2	hgsc.bcm.edu	37	12	9251204	9251204	+	Splice_Site	SNP	G	G	A	rs531579697		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:9251204G>A	ENST00000318602.7	-	15	2157	c.1850C>T	c.(1849-1851)tCg>tTg	p.S617L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	617					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGAACTCACCGAGGACGCCGA	0.552																																																	0			12											26.0	27.0	26.0					12																	9251204		2203	4298	6501	9142471	SO:0001630	splice_region_variant	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1851+1C>T	12.37:g.9251204G>A			9142471	Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128480	0.37533	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.29655	1.56	5.55	4.65	0.58169	.	0.682982	0.14032	N	0.346065	T	0.27027	0.0662	L	0.42529	1.33	0.80722	D	1	B	0.20988	0.05	B	0.12837	0.008	T	0.03651	-1.1016	10	0.40728	T	0.16	.	10.8266	0.46635	0.0896:0.0:0.9104:0.0	.	617	P01023	A2MG_HUMAN	L	617;632	ENSP00000323929:S617L	ENSP00000323929:S617L	S	-	2	0	A2M	9142471	0.732000	0.28121	0.763000	0.31416	0.279000	0.26890	2.166000	0.42406	1.457000	0.47850	0.655000	0.94253	TCG		0.552	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014	Missense_Mutation
KRAS	3845	hgsc.bcm.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	12	GRCh37	CM076251	KRAS	M	rs121913530						93.0	83.0	86.0					12																	25398285		2203	4300	6503	25289552	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys		25289552	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
ASUN	55726	hgsc.bcm.edu	37	12	27064184	27064184	+	Silent	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:27064184A>G	ENST00000261191.7	-	15	2408	c.1872T>C	c.(1870-1872)ccT>ccC	p.P624P	ASUN_ENST00000539625.1_Silent_p.P523P	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	624					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTGGGGAATCAGGCGAATCTT	0.373																																																	0			12											133.0	134.0	133.0					12																	27064184		2203	4300	6503	26955451	SO:0001819	synonymous_variant	55726			AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1872T>C	12.37:g.27064184A>G			26955451	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Silent	SNP	ENST00000261191.7	37	CCDS8708.1																																																																																				0.373	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	NM_018164	
ARID2	196528	hgsc.bcm.edu	37	12	46123634	46123634	+	Silent	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:46123634G>A	ENST00000334344.6	+	1	187	c.15G>A	c.(13-15)acG>acA	p.T5T	LINC00938_ENST00000609803.1_lincRNA|ARID2_ENST00000422737.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	5					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAAACTCGACGGGGAAGGCGC	0.582			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0			12											15.0	20.0	18.0					12																	46123634		2189	4294	6483	44409901	SO:0001819	synonymous_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.15G>A	12.37:g.46123634G>A			44409901	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	CCDS31783.1																																																																																				0.582	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
NAV3	89795	hgsc.bcm.edu	37	12	78583787	78583787	+	Missense_Mutation	SNP	A	A	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:78583787A>T	ENST00000397909.2	+	34	6252	c.6079A>T	c.(6079-6081)Agt>Tgt	p.S2027C	NAV3_ENST00000266692.7_Missense_Mutation_p.S1828C|NAV3_ENST00000536525.2_Missense_Mutation_p.S2005C|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000228327.6_Missense_Mutation_p.S2005C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2027						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAGTTTGGACAGTTTTGTTTT	0.338										HNSCC(70;0.22)																																							0			12											104.0	95.0	98.0					12																	78583787		1904	4143	6047	77107918	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.6079A>T	12.37:g.78583787A>T	ENSP00000381007:p.Ser2027Cys		77107918	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.52|18.52	3.641227|3.641227	0.67244|0.67244	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.88664	.|-2.41;-2.41;-2.41;-2.41;-2.41	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	.|0.000000	.|0.47093	.|U	.|0.000249	D|D	0.91304|0.91304	0.7258|0.7258	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	.|B;D;D;D	.|0.89917	.|0.118;0.995;1.0;0.998	.|B;P;D;D	.|0.66497	.|0.159;0.821;0.944;0.924	D|D	0.91626|0.91626	0.5315|0.5315	5|10	.|0.51188	.|T	.|0.08	-2.6613|-2.6613	14.8066|14.8066	0.69962|0.69962	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2005;1828;2027;2005	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	L|C	899|2005;2027;2005;1828;619;627	.|ENSP00000446132:S2005C;ENSP00000381007:S2027C;ENSP00000228327:S2005C;ENSP00000266692:S1828C;ENSP00000448303:S627C	.|ENSP00000228327:S2005C	Q|S	+|+	2|1	0|0	NAV3|NAV3	77107918|77107918	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.905000|5.905000	0.69893|0.69893	1.966000|1.966000	0.57179|0.57179	0.459000|0.459000	0.35465|0.35465	CAG|AGT		0.338	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
ABCB9	23457	hgsc.bcm.edu	37	12	123466587	123466587	+	5'Flank	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:123466587C>T	ENST00000542678.1	-	0	0				ARL6IP4_ENST00000454885.2_Missense_Mutation_p.R174C|ARL6IP4_ENST00000392435.2_Missense_Mutation_p.R289C|ARL6IP4_ENST00000357866.4_Missense_Mutation_p.R129C|ARL6IP4_ENST00000543566.1_Missense_Mutation_p.R289C|ARL6IP4_ENST00000439686.2_Missense_Mutation_p.R177C|ARL6IP4_ENST00000426960.2_Missense_Mutation_p.R166C|ARL6IP4_ENST00000453766.2_Missense_Mutation_p.R300C|ARL6IP4_ENST00000315580.5_Missense_Mutation_p.R308C|ARL6IP4_ENST00000412505.2_Missense_Mutation_p.R118C|RP11-197N18.2_ENST00000540866.2_RNA			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9						peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GAGCATCATCCGCAAGGTGGT	0.602																																					Ovarian(49;786 1333 9175 38236)												0			12											60.0	59.0	60.0					12																	123466587		2203	4300	6503	122032540	SO:0001631	upstream_gene_variant	51329			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78			12.37:g.123466587C>T	Exception_encountered		122032540	B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Missense_Mutation	SNP	ENST00000542678.1	37	CCDS9241.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.925206	0.73213	.	.	ENSG00000182196	ENST00000544323;ENST00000543566;ENST00000315580;ENST00000542099;ENST00000392435;ENST00000413381;ENST00000426960;ENST00000453766;ENST00000454885;ENST00000412505;ENST00000439686;ENST00000456762;ENST00000357866	T;T;T;T;T;T;T;T;T;T;T;T;T	0.66460	0.93;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	M	0.83223	2.63	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.997;0.995;0.999;0.998;0.998;0.996	D	0.84799	0.0783	10	0.87932	D	0	.	13.5635	0.61804	0.2861:0.7139:0.0:0.0	.	174;252;289;289;308;300	B3V0L1;Q66PJ3-5;Q66PJ3-4;B3V0L0;Q66PJ3;Q66PJ3-2	.;.;.;.;AR6P4_HUMAN;.	C	241;289;308;297;289;177;166;300;174;118;177;167;129	ENSP00000445309:R241C;ENSP00000442718:R289C;ENSP00000313422:R308C;ENSP00000442200:R297C;ENSP00000376230:R289C;ENSP00000441406:R177C;ENSP00000406036:R166C;ENSP00000414847:R300C;ENSP00000396723:R174C;ENSP00000413132:R118C;ENSP00000396365:R177C;ENSP00000391598:R167C;ENSP00000350532:R129C	ENSP00000313422:R308C	R	+	1	0	ARL6IP4	122032540	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	2.971000	0.49248	2.475000	0.83589	0.561000	0.74099	CGC		0.602	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624	
DNAH10	196385	hgsc.bcm.edu	37	12	124315193	124315193	+	Missense_Mutation	SNP	G	G	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:124315193G>C	ENST00000409039.3	+	25	4163	c.4138G>C	c.(4138-4140)Gat>Cat	p.D1380H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1380	Stem. {ECO:0000250}.				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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAACACACAGATGTTCTCAA	0.378																																																	0			12											75.0	72.0	73.0					12																	124315193		1880	4111	5991	122881146	SO:0001583	missense	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.4138G>C	12.37:g.124315193G>C	ENSP00000386770:p.Asp1380His		122881146	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329822	0.41297	.	.	ENSG00000197653	ENST00000409039	T	0.62788	0.0	5.52	5.52	0.82312	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.82277	0.5002	M	0.88906	2.99	0.37576	D	0.919609	D	0.62365	0.991	D	0.63793	0.918	D	0.87111	0.2185	9	0.87932	D	0	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	1380	Q8IVF4	DYH10_HUMAN	H	1380	ENSP00000386770:D1380H	ENSP00000386770:D1380H	D	+	1	0	DNAH10	122881146	1.000000	0.71417	0.063000	0.19743	0.116000	0.19942	5.021000	0.64072	2.597000	0.87782	0.655000	0.94253	GAT		0.378	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
PIWIL1	9271	hgsc.bcm.edu	37	12	130851689	130851689	+	Missense_Mutation	SNP	C	C	T	rs117506395		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:130851689C>T	ENST00000245255.3	+	19	2479	c.2207C>T	c.(2206-2208)aCg>aTg	p.T736M	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	736	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CCTAGACTAACGGTAATTGTG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		19889	0.0		0.001	False		,,,				2504	0.0																0			12						C	MET/THR,MET/THR	0,4406		0,0,2203	157.0	146.0	150.0		2207,2207	5.8	0.1	12	dbSNP_132	150	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	PIWIL1	NM_001190971.1,NM_004764.4	81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	736/830,736/862	130851689	1,13005	2203	4300	6503	129417642	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2207C>T	12.37:g.130851689C>T	ENSP00000245255:p.Thr736Met		129417642	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	ENST00000245255.3	37	CCDS9268.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.83	3.899460	0.72754	0.0	1.16E-4	ENSG00000125207	ENST00000245255	T	0.14640	2.49	5.78	5.78	0.91487	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.154450	0.56097	D	0.000024	T	0.43010	0.1228	M	0.84082	2.675	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.69654	0.965;0.931	T	0.37407	-0.9707	10	0.87932	D	0	-10.6778	18.9996	0.92828	0.0:1.0:0.0:0.0	.	736;736	Q96J94;Q96J94-2	PIWL1_HUMAN;.	M	736	ENSP00000245255:T736M	ENSP00000245255:T736M	T	+	2	0	PIWIL1	129417642	0.695000	0.27747	0.118000	0.21660	0.928000	0.56348	3.181000	0.50903	2.732000	0.93576	0.591000	0.81541	ACG		0.388	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1		
MAP1A	4130	hgsc.bcm.edu	37	15	43817611	43817611	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr15:43817611G>A	ENST00000300231.5	+	4	4390	c.3940G>A	c.(3940-3942)Gaa>Aaa	p.E1314K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E1314K|MAP1A_ENST00000382031.1_Missense_Mutation_p.E1552K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1314					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGCCCTGATGAACACATTCT	0.502																																																	0			15											82.0	83.0	83.0					15																	43817611		2018	4183	6201	41604903	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3940G>A	15.37:g.43817611G>A	ENSP00000300231:p.Glu1314Lys		41604903	O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828609	0.32329	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01613	4.73;4.74;4.74	4.98	4.03	0.46877	.	.	.	.	.	T	0.02888	0.0086	M	0.62723	1.935	0.18873	N	0.999986	B	0.33612	0.419	B	0.33690	0.168	T	0.33317	-0.9873	9	0.40728	T	0.16	-8.2832	8.7091	0.34374	0.0899:0.1676:0.7425:0.0	.	1314	P78559	MAP1A_HUMAN	K	1552;1314;1314	ENSP00000371462:E1552K;ENSP00000382380:E1314K;ENSP00000300231:E1314K	ENSP00000300231:E1314K	E	+	1	0	MAP1A	41604903	0.181000	0.23161	0.989000	0.46669	0.669000	0.39330	1.450000	0.35134	2.605000	0.88082	0.563000	0.77884	GAA		0.502	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
UNC13C	440279	hgsc.bcm.edu	37	15	54305356	54305356	+	Missense_Mutation	SNP	T	T	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr15:54305356T>A	ENST00000260323.11	+	1	256	c.256T>A	c.(256-258)Ttt>Att	p.F86I	UNC13C_ENST00000537900.1_Missense_Mutation_p.F86I|UNC13C_ENST00000545554.1_Missense_Mutation_p.F86I	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	86					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAGTAAAGAGTTTTCCCTCTC	0.403																																																	0			15											62.0	61.0	61.0					15																	54305356		1895	4110	6005	52092648	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.256T>A	15.37:g.54305356T>A	ENSP00000260323:p.Phe86Ile		52092648	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	19.12	3.766527	0.69878	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.79033	-1.23;-1.23;-1.23	5.09	2.76	0.32466	.	.	.	.	.	T	0.63710	0.2534	L	0.27053	0.805	0.30819	N	0.738001	B	0.24823	0.112	B	0.21708	0.036	T	0.62746	-0.6789	9	0.72032	D	0.01	.	6.7788	0.23634	0.0:0.0801:0.1541:0.7658	.	86	Q8NB66	UN13C_HUMAN	I	86	ENSP00000260323:F86I;ENSP00000438156:F86I;ENSP00000442569:F86I	ENSP00000260323:F86I	F	+	1	0	UNC13C	52092648	1.000000	0.71417	0.880000	0.34516	0.865000	0.49528	6.225000	0.72271	0.757000	0.33036	0.533000	0.62120	TTT		0.403	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
LINGO1	84894	hgsc.bcm.edu	37	15	77907398	77907398	+	Missense_Mutation	SNP	C	C	T	rs202233236		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr15:77907398C>T	ENST00000355300.6	-	2	1025	c.851G>A	c.(850-852)cGc>cAc	p.R284H	LINGO1_ENST00000561030.1_Missense_Mutation_p.R278H	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	284					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GACTAGGTGGCGGACGGCCAG	0.582													C|||	1	0.000199681	0.0	0.0014	5008	,	,		21171	0.0		0.0	False		,,,				2504	0.0																0			15											101.0	102.0	102.0					15																	77907398		2190	4285	6475	75694453	SO:0001583	missense	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.851G>A	15.37:g.77907398C>T	ENSP00000347451:p.Arg284His		75694453	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	CCDS45313.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	11.64	1.699149	0.30142	.	.	ENSG00000169783	ENST00000355300	T	0.79940	-1.32	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.77363	0.4119	L	0.51422	1.61	0.80722	D	1	B	0.21606	0.058	B	0.06405	0.002	T	0.72204	-0.4361	10	0.35671	T	0.21	.	19.0471	0.93025	0.0:1.0:0.0:0.0	.	284	Q96FE5	LIGO1_HUMAN	H	284	ENSP00000347451:R284H	ENSP00000347451:R284H	R	-	2	0	LINGO1	75694453	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.306000	0.51881	2.513000	0.84729	0.462000	0.41574	CGC		0.582	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
ASB7	140460	hgsc.bcm.edu	37	15	101188573	101188573	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr15:101188573A>G	ENST00000332783.7	+	6	1648	c.863A>G	c.(862-864)cAa>cGa	p.Q288R	ASB7_ENST00000558747.1_Missense_Mutation_p.Q86R	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	288	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			AAAATTCGACAATGTATAGGC	0.363																																																	0			15											96.0	91.0	93.0					15																	101188573		2203	4300	6503	99006096	SO:0001583	missense	140460				CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.863A>G	15.37:g.101188573A>G	ENSP00000328327:p.Gln288Arg		99006096	A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	ENST00000332783.7	37	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	A	9.274	1.046295	0.19748	.	.	ENSG00000183475	ENST00000332783	T	0.38401	1.14	5.51	5.51	0.81932	SOCS protein, C-terminal (3);	0.159749	0.56097	D	0.000022	T	0.21022	0.0506	N	0.05574	-0.02	0.80722	D	1	B	0.14805	0.011	B	0.11329	0.006	T	0.08027	-1.0742	10	0.19147	T	0.46	-3.6355	15.657	0.77144	1.0:0.0:0.0:0.0	.	288	Q9H672	ASB7_HUMAN	R	288	ENSP00000328327:Q288R	ENSP00000328327:Q288R	Q	+	2	0	ASB7	99006096	1.000000	0.71417	0.995000	0.50966	0.999000	0.98932	8.738000	0.91569	2.097000	0.63578	0.533000	0.62120	CAA		0.363	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708	
MAGEB16	139604	hgsc.bcm.edu	37	X	35820649	35820649	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chrX:35820649T>C	ENST00000399989.1	+	2	615	c.336T>C	c.(334-336)gcT>gcC	p.A112A	MAGEB16_ENST00000399987.1_Silent_p.A112A|MAGEB16_ENST00000399992.1_Silent_p.A144A|MAGEB16_ENST00000399985.1_Silent_p.A112A|MAGEB16_ENST00000399988.1_Silent_p.A112A	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	112										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCGCAGATGCTCTCGACCAGA	0.438																																																	0			X											56.0	52.0	54.0					X																	35820649		1959	4153	6112	35730570	SO:0001819	synonymous_variant	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.336T>C	X.37:g.35820649T>C			35730570	A8MU30	Silent	SNP	ENST00000399989.1	37	CCDS43927.1																																																																																				0.438	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1		
MAGEE1	57692	hgsc.bcm.edu	37	X	75649956	75649956	+	Silent	SNP	A	A	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chrX:75649956A>C	ENST00000361470.2	+	1	1911	c.1633A>C	c.(1633-1635)Agg>Cgg	p.R545R		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	545	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGCATTTTTAGGTTTGAATT	0.463																																																	0			X											37.0	35.0	35.0					X																	75649956		2203	4300	6503	75566360	SO:0001819	synonymous_variant	728239			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1633A>C	X.37:g.75649956A>C			75566360	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	CCDS14433.1																																																																																				0.463	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
ATRX	546	hgsc.bcm.edu	37	X	76814176	76814176	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chrX:76814176T>C	ENST00000373344.5	-	29	6682	c.6468A>G	c.(6466-6468)caA>caG	p.Q2156Q	ATRX_ENST00000395603.3_Silent_p.Q2118Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2156	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.Q2156H(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CAGGCTTAGTTTGTCCAAAGC	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Substitution - Missense(1)|Unknown(1)	bone(1)|pancreas(1)	X											86.0	84.0	85.0					X																	76814176		2203	4294	6497	76700832	SO:0001819	synonymous_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6468A>G	X.37:g.76814176T>C			76700832	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	CCDS14434.1																																																																																				0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
DIAPH2	1730	hgsc.bcm.edu	37	X	96502831	96502831	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chrX:96502831A>G	ENST00000324765.8	+	23	3184	c.2837A>G	c.(2836-2838)aAg>aGg	p.K946R	DIAPH2_ENST00000355827.4_Missense_Mutation_p.K946R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.K946R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.K942R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.K946R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	946	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)	p.K946M(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTTGTGGAAAAGATGACCATA	0.348																																																	1	Substitution - Missense(1)	ovary(1)	X											135.0	114.0	121.0					X																	96502831		2203	4300	6503	96389487	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.2837A>G	X.37:g.96502831A>G	ENSP00000321348:p.Lys946Arg		96389487	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.094476	0.56075	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.66	5.66	0.87406	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.183014	0.32802	U	0.005633	T	0.49270	0.1547	M	0.85373	2.75	0.48341	D	0.999632	D;D	0.67145	0.996;0.994	D;D	0.79784	0.993;0.988	T	0.50783	-0.8787	10	0.23891	T	0.37	.	15.0903	0.72188	1.0:0.0:0.0:0.0	.	946;946	O60879;O60879-2	DIAP2_HUMAN;.	R	946;942;946;946;946;953	ENSP00000362152:K946R;ENSP00000362145:K942R;ENSP00000348082:K946R;ENSP00000362140:K946R;ENSP00000321348:K946R	ENSP00000321348:K946R	K	+	2	0	DIAPH2	96389487	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.560000	0.90712	2.014000	0.59158	0.481000	0.45027	AAG		0.348	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309	
RBMXL3	139804	hgsc.bcm.edu	37	X	114425850	114425850	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chrX:114425850G>A	ENST00000424776.3	+	1	1888	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	616	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CGGGGGCCACGACAGTTCCAG	0.672																																																	0			X											42.0	45.0	44.0					X																	114425850		692	1591	2283	114332106	SO:0001583	missense	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.1846G>A	X.37:g.114425850G>A	ENSP00000417451:p.Asp616Asn		114332106	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.934878	0.34189	.	.	ENSG00000175718	ENST00000424776	T	0.05996	3.36	0.853	0.853	0.19001	.	.	.	.	.	T	0.02533	0.0077	N	0.08118	0	0.21499	N	0.999664	P	0.52463	0.953	B	0.32149	0.141	T	0.45818	-0.9235	9	0.87932	D	0	.	7.5672	0.27885	1.0E-4:0.0:0.9999:0.0	.	616	Q8N7X1	RMXL3_HUMAN	N	616	ENSP00000417451:D616N	ENSP00000417451:D616N	D	+	1	0	RBMXL3	114332106	0.017000	0.18338	0.101000	0.21167	0.101000	0.19017	2.155000	0.42301	0.108000	0.17862	0.110000	0.15639	GAC		0.672	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
SEPSECS	51091	hgsc.bcm.edu	37	4	25156721	25156721	+	Silent	SNP	T	T	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr4:25156721T>A	ENST00000382103.2	-	5	672	c.600A>T	c.(598-600)acA>acT	p.T200T	SEPSECS_ENST00000302922.3_Silent_p.T121T	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	200					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				CTTTCAGGTCTGTACGCAGCT	0.428																																																	0			4											141.0	121.0	128.0					4																	25156721		2203	4300	6503	24765819	SO:0001819	synonymous_variant	51091			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.600A>T	4.37:g.25156721T>A			24765819	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	CCDS3432.2																																																																																				0.428	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	
PCDH18	54510	hgsc.bcm.edu	37	4	138442723	138442723	+	Silent	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr4:138442723C>T	ENST00000344876.4	-	4	3254	c.2868G>A	c.(2866-2868)acG>acA	p.T956T	PCDH18_ENST00000510305.1_Silent_p.T167T|PCDH18_ENST00000511115.1_Silent_p.T136T|PCDH18_ENST00000412923.2_Silent_p.T955T|PCDH18_ENST00000507846.1_Silent_p.T735T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	956	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T956T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGGGGTTGCGTTGGGAATT	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)	4											129.0	124.0	126.0					4																	138442723		2203	4300	6503	138662173	SO:0001819	synonymous_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.2868G>A	4.37:g.138442723C>T			138662173	A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	ENST00000344876.4	37	CCDS34064.1																																																																																				0.517	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1	NM_019035	
EDNRA	1909	hgsc.bcm.edu	37	4	148406954	148406954	+	Missense_Mutation	SNP	C	C	T	rs139739379		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr4:148406954C>T	ENST00000324300.5	+	2	636	c.121C>T	c.(121-123)Cgt>Tgt	p.R41C	EDNRA_ENST00000506066.1_Missense_Mutation_p.R41C|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Missense_Mutation_p.R41C|EDNRA_ENST00000358556.4_Missense_Mutation_p.R41C	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	41					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CACCACTTTTCGTGGCACAGA	0.463													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20105	0.0		0.0	False		,,,				2504	0.0																0			4						C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	156.0	131.0	140.0		121,121	6.0	0.1	4	dbSNP_134	140	0,8600		0,0,4300	no	missense,missense	EDNRA	NM_001166055.1,NM_001957.3	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	41/319,41/428	148406954	1,13005	2203	4300	6503	148626404	SO:0001583	missense	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.121C>T	4.37:g.148406954C>T	ENSP00000315011:p.Arg41Cys		148626404	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	ENST00000324300.5	37	CCDS3769.1	.	.	.	.	.	.	.	.	.	.	C	9.961	1.222901	0.22457	2.27E-4	0.0	ENSG00000151617	ENST00000358556;ENST00000339690;ENST00000394047;ENST00000324300;ENST00000506066	T;D;T;T	0.82526	0.32;-1.62;-0.87;0.32	5.96	5.96	0.96718	.	1.356400	0.04488	N	0.379053	T	0.73560	0.3602	N	0.14661	0.345	0.09310	N	1	P;P;P	0.52842	0.566;0.956;0.476	B;B;B	0.42882	0.157;0.401;0.118	T	0.63242	-0.6681	10	0.56958	D	0.05	0.234	6.357	0.21406	0.1797:0.7129:0.0:0.1074	.	41;41;41	P25101-4;P25101-2;P25101	.;.;EDNRA_HUMAN	C	41	ENSP00000351359:R41C;ENSP00000341556:R41C;ENSP00000315011:R41C;ENSP00000425281:R41C	ENSP00000315011:R41C	R	+	1	0	EDNRA	148626404	0.005000	0.15991	0.113000	0.21522	0.052000	0.14988	2.046000	0.41260	2.832000	0.97577	0.655000	0.94253	CGT		0.463	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364635.1		
TSSC1	7260	hgsc.bcm.edu	37	2	3358401	3358401	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:3358401G>A	ENST00000382125.4	-	2	238	c.46C>T	c.(46-48)Cgt>Tgt	p.R16C	TSSC1_ENST00000443925.2_Missense_Mutation_p.R16C|TSSC1_ENST00000398659.4_Missense_Mutation_p.R16C	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	16										breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GTTAAGGCACGTGCCTGCAGG	0.363																																					Colon(140;1261 1762 4183 34270 49743)												0			2											81.0	79.0	80.0					2																	3358401		2203	4300	6503	3337408	SO:0001583	missense	7260			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.46C>T	2.37:g.3358401G>A	ENSP00000371559:p.Arg16Cys		3337408	D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	ENST00000382125.4	37	CCDS1651.1	.	.	.	.	.	.	.	.	.	.	g	18.32	3.598686	0.66332	.	.	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925;ENST00000444776	D;D	0.97404	-3.52;-4.37	4.45	3.56	0.40772	.	0.000000	0.85682	D	0.000000	D	0.98273	0.9428	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98883	1.0770	10	0.87932	D	0	-0.4511	12.5121	0.56011	0.0:0.1696:0.8304:0.0	.	16	Q53HC9	TSSC1_HUMAN	C	16	ENSP00000371559:R16C;ENSP00000381652:R16C	ENSP00000371559:R16C	R	-	1	0	TSSC1	3337408	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	4.591000	0.61019	1.217000	0.43442	0.558000	0.71614	CGT		0.363	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206694.2	NM_003310	
APOB	338	hgsc.bcm.edu	37	2	21235160	21235160	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:21235160A>G	ENST00000233242.1	-	26	4707	c.4580T>C	c.(4579-4581)cTc>cCc	p.L1527P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1527					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)	p.L1527H(1)		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)					GGTGCCTTGGAGGTAGGAGGA	0.488																																																	1	Substitution - Missense(1)	ovary(1)	2											121.0	123.0	123.0					2																	21235160		2203	4300	6503	21088665	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.4580T>C	2.37:g.21235160A>G	ENSP00000233242:p.Leu1527Pro		21088665	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.286495	0.80803	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01076	5.37	5.88	5.88	0.94601	.	1.077840	0.07220	N	0.860701	T	0.01661	0.0053	L	0.29908	0.895	0.80722	D	1	B	0.34372	0.451	B	0.26517	0.07	T	0.65751	-0.6092	10	0.87932	D	0	.	16.3009	0.82811	1.0:0.0:0.0:0.0	.	1527	P04114	APOB_HUMAN	P	1527	ENSP00000233242:L1527P	ENSP00000233242:L1527P	L	-	2	0	APOB	21088665	1.000000	0.71417	0.908000	0.35775	0.994000	0.84299	8.842000	0.92136	2.246000	0.74042	0.533000	0.62120	CTC		0.488	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
EML6	400954	hgsc.bcm.edu	37	2	55086775	55086775	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:55086775G>A	ENST00000356458.6	+	11	2282	c.1762G>A	c.(1762-1764)Gtt>Att	p.V588I		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	588						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						TGATCACTCAGTTTTCCAGTG	0.453																																																	0			2											88.0	77.0	80.0					2																	55086775		692	1591	2283	54940279	SO:0001583	missense	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.1762G>A	2.37:g.55086775G>A	ENSP00000348842:p.Val588Ile		54940279	A8MUB5|B6ZDG7	Missense_Mutation	SNP	ENST00000356458.6	37	CCDS46286.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010944	0.54361	.	.	ENSG00000214595	ENST00000356458	T	0.57107	0.42	5.56	4.68	0.58851	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.24722	U	0.036122	T	0.35158	0.0922	N	0.11341	0.13	0.40172	D	0.977193	B	0.23735	0.09	B	0.26517	0.07	T	0.12708	-1.0537	10	0.16896	T	0.51	.	16.4607	0.84044	0.0:0.1315:0.8685:0.0	.	588	Q6ZMW3	EMAL6_HUMAN	I	588	ENSP00000348842:V588I	ENSP00000348842:V588I	V	+	1	0	EML6	54940279	1.000000	0.71417	0.657000	0.29651	0.991000	0.79684	4.545000	0.60698	1.329000	0.45376	0.585000	0.79938	GTT		0.453	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324997.3	XM_001725002	
CCT4	10575	hgsc.bcm.edu	37	2	62099332	62099332	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:62099332T>C	ENST00000394440.3	-	12	1672	c.1376A>G	c.(1375-1377)gAg>gGg	p.E459G	AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544185.1_Missense_Mutation_p.E309G|CCT4_ENST00000544079.1_Missense_Mutation_p.E429G|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.E403G	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	459					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			TGGAATGACCTCCATAGCATC	0.468																																																	0			2											106.0	100.0	102.0					2																	62099332		2203	4300	6503	61952836	SO:0001583	missense	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1376A>G	2.37:g.62099332T>C	ENSP00000377958:p.Glu459Gly		61952836	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.916421	0.92249	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.94912	0.8355	H	0.99838	4.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97374	0.9978	10	0.87932	D	0	-19.2426	15.7401	0.77887	0.0:0.0:0.0:1.0	.	429;459	F5H5W3;P50991	.;TCPD_HUMAN	G	459;429;309;403	ENSP00000377958:E459G;ENSP00000443061:E429G;ENSP00000443451:E309G;ENSP00000442174:E403G	ENSP00000377958:E459G	E	-	2	0	CCT4	61952836	1.000000	0.71417	0.983000	0.44433	0.998000	0.95712	7.967000	0.87967	2.246000	0.74042	0.533000	0.62120	GAG		0.468	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2		
GMCL1	64395	hgsc.bcm.edu	37	2	70064744	70064744	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:70064744A>G	ENST00000282570.3	+	2	577	c.326A>G	c.(325-327)gAc>gGc	p.D109G	GMCL1_ENST00000468386.2_3'UTR	NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	109	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)		p.D109G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						GAAAACAGTGACATTAAGATT	0.259																																																	1	Substitution - Missense(1)	ovary(1)	2											42.0	44.0	44.0					2																	70064744		2192	4291	6483	69918248	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.326A>G	2.37:g.70064744A>G	ENSP00000282570:p.Asp109Gly		69918248	Q9H826|Q9H8V7|Q9H927	Missense_Mutation	SNP	ENST00000282570.3	37	CCDS1895.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281341	0.80692	.	.	ENSG00000087338	ENST00000282570	D	0.91351	-2.83	4.92	4.92	0.64577	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.96750	0.8939	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97655	1.0157	10	0.87932	D	0	-32.076	12.832	0.57750	1.0:0.0:0.0:0.0	.	109	Q96IK5	GMCL1_HUMAN	G	109	ENSP00000282570:D109G	ENSP00000282570:D109G	D	+	2	0	GMCL1	69918248	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	8.131000	0.89601	2.181000	0.69327	0.455000	0.32223	GAC		0.259	GMCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251841.2	NM_178439	
TSGA10	80705	hgsc.bcm.edu	37	2	99651815	99651815	+	Missense_Mutation	SNP	G	G	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:99651815G>T	ENST00000393483.3	-	17	2336	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	TSGA10_ENST00000355053.4_Missense_Mutation_p.Q498K|TSGA10_ENST00000539964.1_Missense_Mutation_p.Q498K|TSGA10_ENST00000410001.1_Missense_Mutation_p.Q498K	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	498					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTTTCAAACTGAACCTTCTGA	0.378																																																	0			2											66.0	67.0	66.0					2																	99651815		2203	4300	6503	99018247	SO:0001583	missense	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.1492C>A	2.37:g.99651815G>T	ENSP00000377123:p.Gln498Lys		99018247	B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	G	8.173	0.792210	0.16258	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000393482	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	5.13	5.13	0.70059	.	0.155039	0.45361	D	0.000376	T	0.07143	0.0181	N	0.14661	0.345	0.80722	D	1	B	0.20988	0.05	B	0.12837	0.008	T	0.11641	-1.0579	10	0.05525	T	0.97	-11.7912	12.7334	0.57210	0.0:0.0:0.8356:0.1643	.	498	Q9BZW7	TSG10_HUMAN	K	498	ENSP00000377123:Q498K;ENSP00000386956:Q498K;ENSP00000347161:Q498K;ENSP00000444419:Q498K;ENSP00000377122:Q498K	ENSP00000347161:Q498K	Q	-	1	0	TSGA10	99018247	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.186000	0.58337	2.827000	0.97445	0.655000	0.94253	CAG		0.378	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1	NM_182911	
CNTNAP5	129684	hgsc.bcm.edu	37	2	125671767	125671767	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:125671767A>G	ENST00000431078.1	+	24	4187	c.3823A>G	c.(3823-3825)Aag>Gag	p.K1275E		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1275					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAGCCAGATGAAGGAGAAGGA	0.438																																																	0			2											149.0	144.0	145.0					2																	125671767		1940	4157	6097	125388237	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3823A>G	2.37:g.125671767A>G	ENSP00000399013:p.Lys1275Glu		125388237	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	14.75	2.628181	0.46944	.	.	ENSG00000155052	ENST00000431078	D	0.92699	-3.09	6.14	4.98	0.66077	.	0.000000	0.52532	D	0.000080	D	0.96327	0.8802	M	0.90309	3.105	0.49915	D	0.999837	D	0.69078	0.997	D	0.75020	0.985	D	0.96219	0.9159	10	0.62326	D	0.03	.	12.2077	0.54361	0.8724:0.0:0.0:0.1276	.	1275	Q8WYK1	CNTP5_HUMAN	E	1275	ENSP00000399013:K1275E	ENSP00000399013:K1275E	K	+	1	0	CNTNAP5	125388237	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	6.638000	0.74309	1.125000	0.41998	-0.354000	0.07668	AAG		0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
MAP3K2	10746	hgsc.bcm.edu	37	2	128072395	128072395	+	Missense_Mutation	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:128072395G>A	ENST00000409947.1	-	15	1673	c.1391C>T	c.(1390-1392)aCc>aTc	p.T464I	MAP3K2_ENST00000344908.5_Missense_Mutation_p.T464I|RNU6-1147P_ENST00000363380.1_RNA			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	464	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)	p.T465S(1)		central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)	Bosutinib(DB06616)	AATCTGACGGGTGTATTTCCT	0.343																																																	1	Substitution - Missense(1)	ovary(1)	2											99.0	95.0	96.0					2																	128072395		1832	4074	5906	127788865	SO:0001583	missense	10746			AF111105	CCDS46404.1	2q21.1	2011-06-09			ENSG00000169967	ENSG00000169967		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6854	protein-coding gene	gene with protein product	"""MAP/ERK kinase kinase 2"""	609487		MEKK2		8621389, 10085062	Standard	NM_006609		Approved	MEKK2B	uc002toj.2	Q9Y2U5	OTTHUMG00000153397	ENST00000409947.1:c.1391C>T	2.37:g.128072395G>A	ENSP00000387246:p.Thr464Ile		127788865	B9EG87|Q53QL9|Q53S75|Q59GZ6|Q8NC32|Q9NYK3	Missense_Mutation	SNP	ENST00000409947.1	37	CCDS46404.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486083	0.84854	.	.	ENSG00000169967	ENST00000409947;ENST00000344908	T;T	0.63417	-0.04;-0.04	5.22	5.22	0.72569	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.045018	0.85682	D	0.000000	T	0.61739	0.2371	N	0.20483	0.58	0.80722	D	1	P	0.40681	0.727	P	0.50570	0.644	T	0.63853	-0.6543	10	0.46703	T	0.11	.	18.7661	0.91873	0.0:0.0:1.0:0.0	.	464	Q9Y2U5	M3K2_HUMAN	I	464	ENSP00000387246:T464I;ENSP00000343463:T464I	ENSP00000343463:T464I	T	-	2	0	MAP3K2	127788865	1.000000	0.71417	0.995000	0.50966	0.929000	0.56500	7.844000	0.86867	2.452000	0.82932	0.591000	0.81541	ACC		0.343	MAP3K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331014.1	NM_006609	
UGGT1	56886	hgsc.bcm.edu	37	2	128886624	128886624	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:128886624T>C	ENST00000259253.6	+	13	1295	c.1248T>C	c.(1246-1248)aaT>aaC	p.N416N	UGGT1_ENST00000375990.3_Silent_p.N392N	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	416					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGTTGAGGAATGAAGCTCGGG	0.383																																																	0			2											123.0	127.0	125.0					2																	128886624		2203	4300	6503	128603094	SO:0001819	synonymous_variant	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1248T>C	2.37:g.128886624T>C			128603094	Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Silent	SNP	ENST00000259253.6	37	CCDS2154.1																																																																																				0.383	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254435.2	NM_020120	
TTN	7273	hgsc.bcm.edu	37	2	179605073	179605073	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:179605073G>C	ENST00000591111.1	-	46	12160	c.11936C>G	c.(11935-11937)tCa>tGa	p.S3979*	TTN_ENST00000342175.6_Nonsense_Mutation_p.S4125*|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S3933*|TTN_ENST00000589042.1_Nonsense_Mutation_p.S4296*|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S4058*|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					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)			TTCTGTGCATGAGTGTTCTGA	0.463																																																	0			2											65.0	63.0	63.0					2																	179605073		1907	4121	6028	179313318	SO:0001587	stop_gained	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.11936C>G	2.37:g.179605073G>C	ENSP00000465570:p.Ser3979*		179313318	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	53	20.392664	0.99930	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.65	-1.25	0.09405	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5059	0.50466	0.4675:0.0:0.5325:0.0	.	.	.	.	X	3933;4125;4058;3933	.	ENSP00000340554:S4125X	S	-	2	0	TTN	179313318	0.000000	0.05858	0.026000	0.17262	0.651000	0.38670	0.445000	0.21677	-0.134000	0.11516	0.655000	0.94253	TCA		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SPHKAP	80309	hgsc.bcm.edu	37	2	228882373	228882373	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:228882373C>T	ENST00000392056.3	-	7	3243	c.3197G>A	c.(3196-3198)cGg>cAg	p.R1066Q	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1066Q	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1066						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.R1066L(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TAACCGATTCCGGGGATAGCC	0.562																																																	2	Substitution - Missense(2)	lung(2)	2											50.0	52.0	52.0					2																	228882373		2203	4300	6503	228590617	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3197G>A	2.37:g.228882373C>T	ENSP00000375909:p.Arg1066Gln		228590617	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069431	0.93950	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.20463	2.1;2.07	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.32530	0.975	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	T	0.01062	-1.1464	10	0.25751	T	0.34	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	97;1066;1066	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	Q	1066	ENSP00000375909:R1066Q;ENSP00000339886:R1066Q	ENSP00000339886:R1066Q	R	-	2	0	SPHKAP	228590617	1.000000	0.71417	0.694000	0.30210	0.879000	0.50718	4.404000	0.59735	2.894000	0.99253	0.655000	0.94253	CGG		0.562	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
ECEL1	9427	hgsc.bcm.edu	37	2	233344869	233344869	+	Silent	SNP	C	C	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:233344869C>A	ENST00000304546.1	-	18	2532	c.2322G>T	c.(2320-2322)gtG>gtT	p.V774V	ECEL1_ENST00000409941.1_Silent_p.V772V	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	774					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGCTCACCACACGGAACACT	0.672																																																	0			2											78.0	66.0	70.0					2																	233344869		2203	4300	6503	233053113	SO:0001819	synonymous_variant	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.2322G>T	2.37:g.233344869C>A			233053113	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	CCDS2493.1																																																																																				0.672	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826	
JAK2	3717	hgsc.bcm.edu	37	9	5069951	5069951	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr9:5069951A>G	ENST00000381652.3	+	12	2034	c.1540A>G	c.(1540-1542)Acg>Gcg	p.T514A	JAK2_ENST00000539801.1_Missense_Mutation_p.T514A|JAK2_ENST00000544510.1_Missense_Mutation_p.T365A	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	514					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|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 cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGTCTTCAGAACGAATGGTGT	0.318		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0			9											80.0	74.0	76.0					9																	5069951		2203	4298	6501	5059951	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1540A>G	9.37:g.5069951A>G	ENSP00000371067:p.Thr514Ala		5059951	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	13.28	2.189261	0.38707	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.76709	-0.93;-0.93;-1.04	4.93	4.93	0.64822	.	0.176879	0.64402	D	0.000014	T	0.69043	0.3067	L	0.40543	1.245	0.40494	D	0.980571	B	0.13145	0.007	B	0.14578	0.011	T	0.64626	-0.6363	10	0.21014	T	0.42	-9.114	14.2363	0.65929	1.0:0.0:0.0:0.0	.	514	O60674	JAK2_HUMAN	A	514;514;365	ENSP00000440387:T514A;ENSP00000371067:T514A;ENSP00000443103:T365A	ENSP00000371067:T514A	T	+	1	0	JAK2	5059951	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.912000	0.92726	1.836000	0.53414	0.374000	0.22700	ACG		0.318	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
TAF1L	138474	hgsc.bcm.edu	37	9	32632685	32632685	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr9:32632685A>G	ENST00000242310.4	-	1	2982	c.2893T>C	c.(2893-2895)Tgt>Cgt	p.C965R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	965					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTAGGAGACACTTGCCCTTC	0.468																																																	0			9											152.0	142.0	146.0					9																	32632685		2203	4300	6503	32622685	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2893T>C	9.37:g.32632685A>G	ENSP00000418379:p.Cys965Arg		32622685	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	13.79	2.340945	0.41498	.	.	ENSG00000122728	ENST00000242310	T	0.14391	2.51	1.04	1.04	0.20106	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.047285	0.85682	D	0.000000	T	0.31765	0.0807	M	0.81682	2.555	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.03630	-1.1018	10	0.87932	D	0	.	5.8599	0.18740	1.0:0.0:0.0:0.0	.	965	Q8IZX4	TAF1L_HUMAN	R	965	ENSP00000418379:C965R	ENSP00000418379:C965R	C	-	1	0	TAF1L	32622685	1.000000	0.71417	0.993000	0.49108	0.868000	0.49771	5.877000	0.69675	0.426000	0.26116	0.164000	0.16699	TGT		0.468	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
PTCH1	5727	hgsc.bcm.edu	37	9	98229453	98229453	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr9:98229453T>C	ENST00000331920.6	-	15	2804	c.2505A>G	c.(2503-2505)gaA>gaG	p.E835E	PTCH1_ENST00000429896.2_Silent_p.E684E|PTCH1_ENST00000421141.1_Silent_p.E684E|PTCH1_ENST00000418258.1_Silent_p.E684E|PTCH1_ENST00000430669.2_Silent_p.E769E|PTCH1_ENST00000375274.2_Silent_p.E834E|PTCH1_ENST00000437951.1_Silent_p.E769E	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	835					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)				GTTTGTTTTCTTCCAACATGA	0.468																																																	0			9											150.0	136.0	141.0					9																	98229453		2203	4300	6503	97269274	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.2505A>G	9.37:g.98229453T>C			97269274	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				0.468	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
OR13C3	138803	hgsc.bcm.edu	37	9	107298658	107298658	+	Missense_Mutation	SNP	C	C	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr9:107298658C>G	ENST00000374781.2	-	1	479	c.437G>C	c.(436-438)gGc>gCc	p.G146A		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGCCATCATGCCAAGAAGCAG	0.463																																					GBM(86;1248 1274 14222 15028 46219)												0			9											228.0	194.0	206.0					9																	107298658		2203	4300	6503	106338479	SO:0001583	missense	138803				CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.437G>C	9.37:g.107298658C>G	ENSP00000363913:p.Gly146Ala		106338479	Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	C	0.065	-1.214858	0.01555	.	.	ENSG00000204246	ENST00000374781	T	0.00949	5.51	4.72	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.153752	0.29868	N	0.010989	T	0.00300	0.0009	N	0.00525	-1.395	0.25407	N	0.988398	B	0.28636	0.218	B	0.15052	0.012	T	0.47886	-0.9082	10	0.02654	T	1	.	7.5769	0.27942	0.1837:0.6387:0.1775:0.0	.	146	Q8NGS6	O13C3_HUMAN	A	146	ENSP00000363913:G146A	ENSP00000363913:G146A	G	-	2	0	OR13C3	106338479	0.008000	0.16893	0.999000	0.59377	0.555000	0.35460	1.115000	0.31209	2.610000	0.88304	0.591000	0.81541	GGC		0.463	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
FLT3	2322	hgsc.bcm.edu	37	13	28599079	28599079	+	Splice_Site	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr13:28599079T>C	ENST00000241453.7	-	18	2290	c.2209A>G	c.(2209-2211)Atg>Gtg	p.M737V	FLT3_ENST00000537084.1_Splice_Site_p.M737V|FLT3_ENST00000380982.4_Splice_Site_p.M737V	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	737	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	GAACCAGGCATGCTATTAAAA	0.303			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13											97.0	105.0	102.0					13																	28599079		2203	4300	6503	27497079	SO:0001630	splice_region_variant	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.2208-1A>G	13.37:g.28599079T>C			27497079	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	T	3.839	-0.034180	0.07543	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.76709	-0.97;-1.04;-0.75	5.67	4.48	0.54585	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.285052	0.36932	N	0.002328	T	0.60637	0.2284	N	0.16368	0.405	0.30284	N	0.791016	B;B	0.28350	0.017;0.208	B;B	0.27380	0.008;0.079	T	0.56944	-0.7895	10	0.27785	T	0.31	.	9.5515	0.39313	0.0:0.0812:0.0:0.9188	.	737;737	P36888-2;P36888	.;FLT3_HUMAN	V	737	ENSP00000241453:M737V;ENSP00000370369:M737V;ENSP00000438139:M737V	ENSP00000241453:M737V	M	-	1	0	FLT3	27497079	0.995000	0.38212	0.881000	0.34555	0.480000	0.33159	2.872000	0.48467	0.974000	0.38366	0.454000	0.30748	ATG		0.303	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		Missense_Mutation
BRCA2	675	hgsc.bcm.edu	37	13	32912506	32912506	+	Silent	SNP	C	C	T	rs276174839		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr13:32912506C>T	ENST00000380152.3	+	11	4247	c.4014C>T	c.(4012-4014)ggC>ggT	p.G1338G	BRCA2_ENST00000544455.1_Silent_p.G1338G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1338	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)	p.G1338G(1)		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)		AATTTGATGGCAGTGATTCAA	0.303			"""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"""	1	Substitution - coding silent(1)	oesophagus(1)	13											33.0	33.0	33.0					13																	32912506		2202	4300	6502	31810506	SO:0001819	synonymous_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4014C>T	13.37:g.32912506C>T			31810506	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																				0.303	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
BRCA2	675	hgsc.bcm.edu	37	13	32968953	32968953	+	Silent	SNP	A	A	G	rs80359758		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr13:32968953A>G	ENST00000380152.3	+	25	9617	c.9384A>G	c.(9382-9384)cgA>cgG	p.R3128R	BRCA2_ENST00000544455.1_Silent_p.R3128R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	3128					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)		TCCAGTGGCGACCAGAATCCA	0.383			"""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											100.0	93.0	95.0					13																	32968953		2203	4300	6503	31866953	SO:0001819	synonymous_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.9384A>G	13.37:g.32968953A>G			31866953	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																				0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
CCNA1	8900	hgsc.bcm.edu	37	13	37011834	37011834	+	Silent	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr13:37011834C>T	ENST00000255465.4	+	3	630	c.366C>T	c.(364-366)ctC>ctT	p.L122L	CCNA1_ENST00000440264.1_Silent_p.L78L|CCNA1_ENST00000449823.1_Silent_p.L78L|CCNA1_ENST00000418263.1_Silent_p.L121L|CCNA1_ENST00000463403.1_3'UTR			P78396	CCNA1_HUMAN	cyclin A1	122					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.L122L(1)|p.P123>S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGAAAGCACTCCCTGACTGTG	0.498																																																	2	Substitution - coding silent(1)|Complex - compound substitution(1)	lung(2)	13											86.0	93.0	91.0					13																	37011834		2203	4300	6503	35909834	SO:0001819	synonymous_variant	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.366C>T	13.37:g.37011834C>T			35909834	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Silent	SNP	ENST00000255465.4	37	CCDS9357.1																																																																																				0.498	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914	
EXOSC8	11340	hgsc.bcm.edu	37	13	37578694	37578694	+	Silent	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr13:37578694C>T	ENST00000389704.3	+	5	499	c.234C>T	c.(232-234)taC>taT	p.Y78Y	EXOSC8_ENST00000489088.1_3'UTR	NM_181503.2	NP_852480.1	Q96B26	EXOS8_HUMAN	exosome component 8	78					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		ATAAAGGATACGTTGGTAAGT	0.279																																																	0			13											67.0	68.0	68.0					13																	37578694		2203	4300	6503	36476694	SO:0001819	synonymous_variant	11340			AF025438	CCDS31958.1	13q13.1	2010-05-07			ENSG00000120699	ENSG00000120699	3.1.13.-		17035	protein-coding gene	gene with protein product	"""CBP-interacting protein 3"", ""Opa interacting protein 2"""	606019				9466265, 11929972	Standard	NM_181503		Approved	OIP2, RRP43, bA421P11.3, Rrp43p, EAP2, p9, CIP3	uc001uwa.3	Q96B26	OTTHUMG00000016742	ENST00000389704.3:c.234C>T	13.37:g.37578694C>T			36476694	O43480|Q5TBA5	Silent	SNP	ENST00000389704.3	37	CCDS31958.1																																																																																				0.279	EXOSC8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044535.2	NM_181503	
SPACA7	122258	hgsc.bcm.edu	37	13	113052451	113052451	+	Splice_Site	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr13:113052451A>G	ENST00000283550.3	+	3	307	c.240A>G	c.(238-240)ttA>ttG	p.L80L	SPACA7_ENST00000375699.3_Splice_Site_p.L49L	NM_145248.4	NP_660291.2	Q96KW9	SPAC7_HUMAN	sperm acrosome associated 7	80						acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)				large_intestine(5)|lung(4)|skin(3)|urinary_tract(1)	13						CAACACCGTTACGTAAGGAGA	0.423																																																	0			13											162.0	139.0	147.0					13																	113052451		2203	4300	6503	112100452	SO:0001630	splice_region_variant	122258			BC016750	CCDS9524.1	13q34	2013-10-11	2011-03-15	2011-03-15	ENSG00000153498	ENSG00000153498			29575	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 28"""	C13orf28		22495889	Standard	NM_145248		Approved		uc001vsd.2	Q96KW9	OTTHUMG00000017365	ENST00000283550.3:c.241+1A>G	13.37:g.113052451A>G			112100452	Q5T8L1	Silent	SNP	ENST00000283550.3	37	CCDS9524.1																																																																																				0.423	SPACA7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045820.2	NM_145248	Silent
RET	5979	hgsc.bcm.edu	37	10	43597981	43597981	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr10:43597981C>T	ENST00000355710.3	+	3	761	c.529C>T	c.(529-531)Cgg>Tgg	p.R177W	RET_ENST00000340058.5_Missense_Mutation_p.R177W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	177	Cadherin. {ECO:0000255|PROSITE- ProRule:PRU00043}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTTCCGCATTCGGGAGAACCG	0.617		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			10											92.0	75.0	81.0					10																	43597981		2203	4300	6503	42917987	SO:0001583	missense	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.529C>T	10.37:g.43597981C>T	ENSP00000347942:p.Arg177Trp		42917987	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.588246	0.66105	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.53640	0.61;0.61	5.09	0.162	0.14981	Cadherin (3);Cadherin-like (1);	0.255981	0.37669	N	0.001990	T	0.58581	0.2132	L	0.47716	1.5	0.24263	N	0.995271	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.56884	-0.7905	10	0.62326	D	0.03	.	13.8849	0.63702	0.7797:0.2203:0.0:0.0	.	177;177	P07949;P07949-2	RET_HUMAN;.	W	177	ENSP00000347942:R177W;ENSP00000344798:R177W	ENSP00000344798:R177W	R	+	1	2	RET	42917987	0.971000	0.33674	0.197000	0.23402	0.955000	0.61496	1.157000	0.31724	0.100000	0.17581	0.655000	0.94253	CGG		0.617	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
RET	5979	hgsc.bcm.edu	37	10	43617396	43617396	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr10:43617396T>C	ENST00000355710.3	+	16	2965	c.2733T>C	c.(2731-2733)ggT>ggC	p.G911G	RET_ENST00000340058.5_Silent_p.G911G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	911	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CTCTTTAGGGTCGGATTCCAG	0.448		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			10											225.0	212.0	217.0					10																	43617396		2203	4300	6503	42937402	SO:0001819	synonymous_variant	5979	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2733T>C	10.37:g.43617396T>C			42937402	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	CCDS7200.1																																																																																				0.448	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
PTEN	5728	hgsc.bcm.edu	37	10	89692797	89692797	+	Missense_Mutation	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr10:89692797A>G	ENST00000371953.3	+	5	1638	c.281A>G	c.(280-282)aAc>aGc	p.N94S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	94	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.H93fs*5(1)|p.Q87_P96del(1)|p.N82_P95del(1)|p.F56fs*2(1)|p.N94I(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAGACCATAACCCACCACAG	0.343		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	54	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Deletion - In frame(2)|Substitution - Missense(1)	prostate(16)|central_nervous_system(11)|lung(6)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|endometrium(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|urinary_tract(1)	10											111.0	102.0	106.0					10																	89692797		2203	4300	6503	89682777	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.281A>G	10.37:g.89692797A>G	ENSP00000361021:p.Asn94Ser		89682777	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.487227	0.84854	.	.	ENSG00000171862	ENST00000371953	D	0.85171	-1.95	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	L	0.55990	1.75	0.80722	D	1	D	0.71674	0.998	D	0.64506	0.926	D	0.88938	0.3378	9	.	.	.	-6.8234	14.8406	0.70220	1.0:0.0:0.0:0.0	.	94	P60484	PTEN_HUMAN	S	94	ENSP00000361021:N94S	.	N	+	2	0	PTEN	89682777	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.914000	0.92735	1.880000	0.54463	0.533000	0.62120	AAC		0.343	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89711925	89711925	+	Silent	SNP	G	G	A			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr10:89711925G>A	ENST00000371953.3	+	6	1900	c.543G>A	c.(541-543)ctG>ctA	p.L181L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	181	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)|p.V175fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATAGCTACCTGTTAAAGAATC	0.383		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	56	Whole gene deletion(37)|Deletion - Frameshift(11)|Unknown(4)|Complex - frameshift(3)|Deletion - In frame(1)	prostate(16)|central_nervous_system(13)|skin(9)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10											144.0	144.0	144.0					10																	89711925		2203	4300	6503	89701905	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.543G>A	10.37:g.89711925G>A			89701905	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TCF7L2	6934	hgsc.bcm.edu	37	10	114912188	114912188	+	Missense_Mutation	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr10:114912188C>T	ENST00000355995.4	+	11	1765	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TCF7L2_ENST00000355717.4_Missense_Mutation_p.R444W|TCF7L2_ENST00000534894.1_Missense_Mutation_p.R420W|TCF7L2_ENST00000538897.1_Missense_Mutation_p.R420W|TCF7L2_ENST00000542695.1_Missense_Mutation_p.R136W|TCF7L2_ENST00000543371.1_Missense_Mutation_p.R420W|TCF7L2_ENST00000369386.1_Missense_Mutation_p.R63W|TCF7L2_ENST00000545257.1_Missense_Mutation_p.R420W|TCF7L2_ENST00000369397.4_Missense_Mutation_p.R397W|TCF7L2_ENST00000369389.1_Missense_Mutation_p.R131W|TCF7L2_ENST00000352065.5_Missense_Mutation_p.R397W|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Missense_Mutation_p.R420W			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	420					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTGGTCCGCGCGGGATAACTA	0.527			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0			10											105.0	111.0	109.0					10																	114912188		2203	4300	6503	114902178	SO:0001583	missense	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1258C>T	10.37:g.114912188C>T	ENSP00000348274:p.Arg420Trp		114902178	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	c	22.3	4.269553	0.80469	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945;ENST00000369386	D;D;D;D;D;D;D;D;D;D;D;D	0.99519	-5.52;-5.55;-5.53;-5.57;-6.03;-6.07;-6.03;-5.54;-6.01;-5.47;-5.96;-5.96	5.66	3.75	0.43078	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.058760	0.64402	D	0.000003	D	0.99477	0.9814	M	0.83774	2.66	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.994;0.999;0.999;0.999;0.998;0.999;0.997;0.999;0.999;0.999;0.999;0.998;0.996;0.999;1.0;1.0	D	0.98626	1.0669	10	0.87932	D	0	-7.2209	14.8202	0.70068	0.263:0.737:0.0:0.0	.	277;237;319;420;291;335;393;397;397;363;420;397;397;402;444;397;420;393;397	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	W	420;420;420;420;444;420;420;397;397;136;131;137;63	ENSP00000348274:R420W;ENSP00000440547:R420W;ENSP00000444972:R420W;ENSP00000446238:R420W;ENSP00000347949:R444W;ENSP00000446172:R420W;ENSP00000443626:R420W;ENSP00000358404:R397W;ENSP00000344823:R397W;ENSP00000443883:R136W;ENSP00000358396:R131W;ENSP00000277945:R137W	ENSP00000277945:R137W	R	+	1	2	TCF7L2	114902178	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	3.984000	0.56923	0.705000	0.31890	-0.169000	0.13324	CGG		0.527	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
MKI67	4288	hgsc.bcm.edu	37	10	129903300	129903300	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr10:129903300T>C	ENST00000368654.3	-	13	7179	c.6804A>G	c.(6802-6804)acA>acG	p.T2268T	MKI67_ENST00000368653.3_Silent_p.T1908T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2268	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGTTTGGGTGTGTCCATAG	0.468																																																	0			10											298.0	271.0	280.0					10																	129903300		2203	4300	6503	129793290	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6804A>G	10.37:g.129903300T>C			129793290	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.468	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
FAM134B	54463	hgsc.bcm.edu	37	5	16478972	16478972	+	Silent	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr5:16478972T>C	ENST00000306320.9	-	6	881	c.795A>G	c.(793-795)aaA>aaG	p.K265K	FAM134B_ENST00000399793.2_Silent_p.K124K	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	265					sensory perception of pain (GO:0019233)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						ATCTCTCACGTTTCTTCTGAT	0.289																																																	0			5											92.0	90.0	91.0					5																	16478972		1809	4066	5875	16531972	SO:0001819	synonymous_variant	54463			BC053326	CCDS43304.1, CCDS43305.1	5p15.1	2014-09-17			ENSG00000154153	ENSG00000154153			25964	protein-coding gene	gene with protein product		613114				19838196, 24327336	Standard	NM_001034850		Approved	FLJ20152	uc003jfs.3	Q9H6L5	OTTHUMG00000161788	ENST00000306320.9:c.795A>G	5.37:g.16478972T>C			16531972	Q69YN8|Q9H6K6|Q9H764|Q9NXM8	Silent	SNP	ENST00000306320.9	37	CCDS43304.1																																																																																				0.289	FAM134B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000366090.1	NM_001034850	
IQGAP2	10788	hgsc.bcm.edu	37	5	75996929	75996929	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr5:75996929G>T	ENST00000274364.6	+	34	4693	c.4396G>T	c.(4396-4398)Gga>Tga	p.G1466*	IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.G968*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.G962*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.G962*|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1466					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAAACTAGATGGAAAAGGAGA	0.423																																																	0			5											95.0	93.0	93.0					5																	75996929		2203	4300	6503	76032685	SO:0001587	stop_gained	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4396G>T	5.37:g.75996929G>T	ENSP00000274364:p.Gly1466*		76032685	A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	ENST00000274364.6	37	CCDS34188.1	.	.	.	.	.	.	.	.	.	.	G	44	11.085150	0.99513	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000396234;ENST00000502745	.	.	.	5.46	3.64	0.41730	.	0.466924	0.25052	N	0.033504	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-9.414	12.75	0.57304	0.1414:0.0:0.8586:0.0	.	.	.	.	X	1466;968;962;962	.	ENSP00000274364:G1466X	G	+	1	0	IQGAP2	76032685	1.000000	0.71417	0.395000	0.26283	0.215000	0.24574	3.468000	0.53086	1.427000	0.47276	0.655000	0.94253	GGA		0.423	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
IQGAP2	10788	hgsc.bcm.edu	37	5	75996931	75996931	+	Silent	SNP	A	A	G			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr5:75996931A>G	ENST00000274364.6	+	34	4695	c.4398A>G	c.(4396-4398)ggA>ggG	p.G1466G	IQGAP2_ENST00000379730.3_Silent_p.G968G|IQGAP2_ENST00000502745.1_Silent_p.G962G|IQGAP2_ENST00000396234.3_Silent_p.G962G|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1466					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACTAGATGGAAAAGGAGAAC	0.423																																																	0			5											96.0	94.0	95.0					5																	75996931		2203	4300	6503	76032687	SO:0001819	synonymous_variant	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4398A>G	5.37:g.75996931A>G			76032687	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	CCDS34188.1																																																																																				0.423	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633	
APC	324	hgsc.bcm.edu	37	5	112164616	112164616	+	Silent	SNP	C	C	A	rs137854574		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr5:112164616C>A	ENST00000457016.1	+	14	2070	c.1690C>A	c.(1690-1692)Cga>Aga	p.R564R	APC_ENST00000508376.2_Silent_p.R564R|CTC-554D6.1_ENST00000520401.1_Nonsense_Mutation_p.C59*|APC_ENST00000257430.4_Silent_p.R564R			P25054	APC_HUMAN	adenomatous polyposis coli	564	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.R564*(14)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGACGTTGCGAGAAGTTGG	0.313		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"""	15	Substitution - Nonsense(14)|Unknown(1)	large_intestine(14)|skin(1)	5	GRCh37	CM920035	APC	M	rs137854574						126.0	137.0	134.0					5																	112164616		2202	4300	6502	112192515	SO:0001819	synonymous_variant	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.1690C>A	5.37:g.112164616C>A			112192515	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.313	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175123	112175123	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr5:112175123T>C	ENST00000457016.1	+	16	4212	c.3832T>C	c.(3832-3834)Tca>Cca	p.S1278P	APC_ENST00000508376.2_Missense_Mutation_p.S1278P|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1278P			P25054	APC_HUMAN	adenomatous polyposis coli	1278	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.S1278P(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAGTTCATTATCATCTTTGTC	0.343		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"""	3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	urinary_tract(1)|soft_tissue(1)|skin(1)	5											53.0	56.0	55.0					5																	112175123		2202	4300	6502	112203022	SO:0001583	missense	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.3832T>C	5.37:g.112175123T>C	ENSP00000413133:p.Ser1278Pro		112203022	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468474	0.63625	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	6.03	6.03	0.97812	.	0.114891	0.64402	D	0.000010	D	0.93562	0.7945	M	0.79926	2.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93608	0.6936	9	.	.	.	-13.7606	16.2316	0.82347	0.0:0.0:0.0:1.0	.	1280;1278	Q4LE70;P25054	.;APC_HUMAN	P	1278	ENSP00000413133:S1278P;ENSP00000257430:S1278P;ENSP00000427089:S1278P;ENSP00000423828:S1278P	.	S	+	1	0	APC	112203022	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.308000	0.77769	0.533000	0.62120	TCA		0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ADAM19	8728	hgsc.bcm.edu	37	5	156932761	156932761	+	Missense_Mutation	SNP	T	T	C			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr5:156932761T>C	ENST00000517905.1	-	11	1090	c.1046A>G	c.(1045-1047)cAc>cGc	p.H349R	ADAM19_ENST00000430702.2_Missense_Mutation_p.H82R|ADAM19_ENST00000257527.4_Missense_Mutation_p.H349R|ADAM19_ENST00000394020.1_Missense_Mutation_p.H351R			Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	349	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart development (GO:0007507)|membrane protein ectodomain proteolysis (GO:0006509)	integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCAAAGTTGTGGCCCATCTC	0.572																																																	0			5											62.0	50.0	54.0					5																	156932761		2203	4300	6503	156865339	SO:0001583	missense	8728			AF311317	CCDS4338.1	5q33.3	2010-06-24	2010-06-24		ENSG00000135074	ENSG00000135074		"""ADAM metallopeptidase domain containing"""	197	protein-coding gene	gene with protein product	"""meltrin beta"""	603640	"""a disintegrin and metalloproteinase domain 19 (meltrin beta)"""			9806848	Standard	NM_033274		Approved	MLTNB	uc003lwz.4	Q9H013	OTTHUMG00000130242	ENST00000517905.1:c.1046A>G	5.37:g.156932761T>C	ENSP00000428654:p.His349Arg		156865339	Q9BZL5|Q9UHP2	Missense_Mutation	SNP	ENST00000517905.1	37		.	.	.	.	.	.	.	.	.	.	T	29.5	5.012675	0.93346	.	.	ENSG00000135074	ENST00000430702;ENST00000257527;ENST00000394020;ENST00000517905	T;D;D;D	0.98684	1.66;-5.07;-5.07;-5.07	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	D	0.99554	0.9840	H	0.99026	4.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97734	1.0204	10	0.87932	D	0	.	16.3483	0.83171	0.0:0.0:0.0:1.0	.	349;82	Q9H013-2;E9PD32	.;.	R	82;349;351;349	ENSP00000414088:H82R;ENSP00000257527:H349R;ENSP00000377588:H351R;ENSP00000428654:H349R	ENSP00000257527:H349R	H	-	2	0	ADAM19	156865339	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	CAC		0.572	ADAM19-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000373918.1	NM_033274	
NF1	4763	hgsc.bcm.edu	37	17	29556851	29556851	+	Splice_Site	SNP	A	A	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr17:29556851A>T	ENST00000358273.4	+	22	3233		c.e22-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						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.?(5)	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)		TTCTTTCTTTAGGTTTTATTG	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	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(8)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17	GRCh37	CS040850|CS062076	NF1	S							84.0	84.0	84.0					17																	29556851		2203	4300	6503	26580977	SO:0001630	splice_region_variant	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.2851-1A>T	17.37:g.29556851A>T			26580977	O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.236999	0.39498	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4896	0.75593	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26580977	1.000000	0.71417	0.978000	0.43139	0.198000	0.23893	8.923000	0.92808	2.053000	0.61076	0.374000	0.22700	.		0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
DNPEP	23549	hgsc.bcm.edu	37	2	220250689	220250689	+	Splice_Site	SNP	C	C	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:220250689C>T	ENST00000273075.4	-	6	811		c.e6+1		DNPEP_ENST00000373972.1_Splice_Site|DNPEP_ENST00000523282.1_Splice_Site|AC053503.4_ENST00000420563.1_RNA	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase						peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAGTCTCACAGATGCATCT	0.537																																																	0			2											67.0	75.0	73.0					2																	220250689		2033	4206	6239	219958933	SO:0001630	splice_region_variant	23549				CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.590+1G>A	2.37:g.220250689C>T			219958933	Q9BW44|Q9NUV5	Splice_Site	SNP	ENST00000273075.4	37	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003174	0.74932	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935;ENST00000429013;ENST00000521459;ENST00000322176;ENST00000434339	.	.	.	4.33	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3495	0.66691	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNPEP	219958933	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.222000	0.78025	2.124000	0.65301	0.561000	0.74099	.		0.537	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1	NM_012100	Intron
PTEN	5728	hgsc.bcm.edu	37	10	89725043	89725043	+	Splice_Site	SNP	G	G	T			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr10:89725043G>T	ENST00000371953.3	+	9	2383		c.e9-1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(7)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTCTCTAGGTGAAGCTGT	0.333		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	54	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(7)|Deletion - In frame(1)	prostate(16)|central_nervous_system(12)|skin(5)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)|kidney(1)	10											42.0	39.0	40.0					10																	89725043		2203	4300	6503	89715023	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1027-1G>T	10.37:g.89725043G>T			89715023	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972931	0.53614	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4116	0.94675	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89715023	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.426000	0.97469	2.652000	0.90054	0.586000	0.80456	.		0.333	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron
TMEM247	388946	hgsc.bcm.edu	37	2	46707888	46707888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr2:46707888delG	ENST00000434431.1	+	2	462	c.462delG	c.(460-462)gagfs	p.E154fs		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	154						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TGCAGCAAGAGGCGGCGCCCC	0.682																																																	0			2								59,2867		9,41,1413	15.0	19.0	18.0			1.5	0.0	2	dbSNP_130	19	233,5079		9,215,2432	no	frameshift	LOC388946	NM_001145051.2		18,256,3845	A1A1,A1R,RR		4.3863,2.0164,3.5445			46707888	292,7946	690	1589	2279	46561392	SO:0001589	frameshift_variant	388946				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.462delG	2.37:g.46707888delG	ENSP00000388684:p.Glu154fs		46561392		Frame_Shift_Del	DEL	ENST00000434431.1	37	CCDS56117.1																																																																																				0.682	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388504	1388505	+	Frame_Shift_Del	DEL	CG	CG	-	rs568118449|rs528384190|rs115485610	byFrequency	TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	CG	CG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr4:1388504_1388505delCG	ENST00000324803.4	+	1	3165_3166	c.205_206delCG	c.(205-207)cgtfs	p.R69fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	69					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGTCCATGTG	0.629														54	0.0107827	0.0174	0.0043	5008	,	,		20699	0.002		0.0169	False		,,,				2504	0.0092																0			4																																								1378505	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.205_206delCG	4.37:g.1388504_1388505delCG	ENSP00000323978:p.Arg69fs		1378504	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				0.629	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
APC	324	hgsc.bcm.edu	37	5	112175752	112175752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr5:112175752delT	ENST00000457016.1	+	16	4841	c.4461delT	c.(4459-4461)actfs	p.T1487fs	APC_ENST00000508376.2_Frame_Shift_Del_p.T1487fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.T1487fs			P25054	APC_HUMAN	adenomatous polyposis coli	1487	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.T1487fs*17(10)|p.L1488fs*19(7)|p.L1488fs*26(5)|p.L1488fs*18(1)|p.?(1)|p.K1454fs*3(1)|p.T1487fs*25(1)|p.T1487T(1)|p.K1192fs*3(1)|p.T1487fs*23(1)|p.L1488fs*20(1)|p.L1488fs*21(1)|p.L1488fs*23(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)		ATGCTGATACTTTATTACATT	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	32	Deletion - Frameshift(21)|Insertion - Frameshift(7)|Complex - frameshift(2)|Unknown(1)|Substitution - coding silent(1)	large_intestine(29)|thyroid(1)|soft_tissue(1)|skin(1)	5											69.0	70.0	70.0					5																	112175752		2202	4300	6502	112203651	SO:0001589	frameshift_variant	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.4461delT	5.37:g.112175752delT	ENSP00000413133:p.Thr1487fs		112203651	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175756	112175756	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr5:112175756delT	ENST00000457016.1	+	16	4845	c.4465delT	c.(4465-4467)ttafs	p.L1489fs	APC_ENST00000508376.2_Frame_Shift_Del_p.L1489fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.L1489fs			P25054	APC_HUMAN	adenomatous polyposis coli	1489	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.L1488fs*18(17)|p.T1487fs*17(10)|p.L1488fs*23(3)|p.L1489fs*19(2)|p.?(1)|p.K1454fs*3(1)|p.L1488fs*13(1)|p.L1489V(1)|p.K1192fs*3(1)|p.T1487fs*23(1)|p.L1488fs*22(1)|p.L1488fs*25(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)		TGATACTTTATTACATTTTGC	0.443		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	40	Deletion - Frameshift(34)|Complex - frameshift(2)|Insertion - Frameshift(2)|Substitution - Missense(1)|Unknown(1)	large_intestine(36)|thyroid(1)|lung(1)|soft_tissue(1)|skin(1)	5											69.0	70.0	70.0					5																	112175756		2202	4300	6502	112203655	SO:0001589	frameshift_variant	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.4465delT	5.37:g.112175756delT	ENSP00000413133:p.Leu1489fs		112203655	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.443	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
LRRC43	254050	hgsc.bcm.edu	37	12	122685140	122685141	+	In_Frame_Ins	INS	-	-	GGGGGAGAAAGACAAGAAAGG	rs151331994		TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr12:122685140_122685141insGGGGGAGAAAGACAAGAAAGG	ENST00000339777.4	+	9	1581_1582	c.1553_1554insGGGGGAGAAAGACAAGAAAGG	c.(1552-1557)aagggg>aaGGGGGAGAAAGACAAGAAAGGgggg	p.519_520insEKDKKGG	B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_In_Frame_Ins_p.334_335insEKDKKGG	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	519	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		aagaaaggaaagggggagaaag	0.589																																																	0			12							,	33,3651		2,29,1811					,	4.4	0.0		dbSNP_134	107	341,7527		8,325,3601	no	coding,coding	LRRC43	NM_152759.4,NM_001098519.1	,	10,354,5412	A1A1,A1R,RR		4.334,0.8958,3.2375	,	,		374,11178				121251094	SO:0001652	inframe_insertion	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1554_1574dupGGGGGAGAAAGACAAGAAAGG	12.37:g.122685140_122685141insGGGGGAGAAAGACAAGAAAGG	ENSP00000344233:p.Gly519_Glu520insGluLysAspLysLysGlyGly		121251093	Q6ZVT9	In_Frame_Ins	INS	ENST00000339777.4	37	CCDS45001.1																																																																																				0.589	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401589.1	NM_152759	
ZNF461	92283	hgsc.bcm.edu	37	19	37130434	37130434	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DC-6683-01A-11D-1826-10	TCGA-DC-6683-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	2fb4aebc-3a86-46ef-ab91-96db120cab15	a1f3b7da-3d32-4ca1-a81f-5515fa9fc811	g.chr19:37130434delT	ENST00000588268.1	-	6	1040	c.813delA	c.(811-813)aaafs	p.K271fs	ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_Frame_Shift_Del_p.K248fs	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATTCATAGCGTTTTTCACCAT	0.353																																																	0			19											56.0	60.0	59.0					19																	37130434		2171	4280	6451	41822274	SO:0001589	frameshift_variant	92283			BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.813delA	19.37:g.37130434delT	ENSP00000467931:p.Lys271fs		41822274	A8K9W9|Q6VSF7|Q9ULZ8	Frame_Shift_Del	DEL	ENST00000588268.1	37	CCDS54257.1																																																																																				0.353	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257	
