#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AASDH	132949	hgsc.bcm.edu;ucsc.edu	37	4	57216203	57216203	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:57216203C>A	ENST00000205214.6	-	11	1894	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	AASDH_ENST00000451613.1_Missense_Mutation_p.D572Y|AASDH_ENST00000602986.1_Missense_Mutation_p.D419Y|AASDH_ENST00000502617.1_Missense_Mutation_p.D572Y|AASDH_ENST00000434343.2_Missense_Mutation_p.D87Y|AASDH_ENST00000513376.1_Missense_Mutation_p.D472Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	572	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTCAAAAGATCTTCTGGGAGA	0.383																																																	0													24.0	23.0	23.0					4																	57216203		2001	4167	6168	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1714G>T	4.37:g.57216203C>A	ENSP00000205214:p.Asp572Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039712	0.75732	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.67	4.81	0.61882	Acyl carrier protein-like (2);Phosphopantetheine-binding (1);	0.042079	0.85682	D	0.000000	T	0.68393	0.2996	M	0.74258	2.255	0.58432	D	0.999995	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.72075	0.946;0.961;0.961;0.976	T	0.72887	-0.4156	10	0.66056	D	0.02	-19.2544	15.7475	0.77958	0.1375:0.8625:0.0:0.0	.	419;572;572;572	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	Y	572;472;87;572;419;572	ENSP00000205214:D572Y;ENSP00000423760:D472Y;ENSP00000392158:D87Y;ENSP00000409656:D572Y;ENSP00000421171:D572Y	ENSP00000205214:D572Y	D	-	1	0	AASDH	56910960	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	2.951000	0.49089	1.332000	0.45431	0.609000	0.83330	GAT		0.383	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1		NM_181806	
AFTPH	54812	hgsc.bcm.edu;ucsc.edu	37	2	64779745	64779769	+	Frame_Shift_Del	DEL	AGTTGGTTCTCCCAAAGAAGAAAGT	AGTTGGTTCTCCCAAAGAAGAAAGT	-	rs201990175|rs200659368		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	AGTTGGTTCTCCCAAAGAAGAAAGT	AGTTGGTTCTCCCAAAGAAGAAAGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:64779745_64779769delAGTTGGTTCTCCCAAAGAAGAAAGT	ENST00000422803.1	+	2	1451_1475	c.1137_1161delAGTTGGTTCTCCCAAAGAAGAAAGT	c.(1135-1161)gaagttggttctcccaaagaagaaagtfs	p.EVGSPKEES379fs	AFTPH_ENST00000238855.7_Frame_Shift_Del_p.EVGSPKEES379fs|AFTPH_ENST00000238856.4_Frame_Shift_Del_p.EVGSPKEES379fs|AFTPH_ENST00000409183.1_Frame_Shift_Del_p.EVGSPKEES10fs|AFTPH_ENST00000409933.1_Frame_Shift_Del_p.EVGSPKEES379fs			Q6ULP2	AFTIN_HUMAN	aftiphilin	379					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						CTGATGATGAAGTTGGTTCTCCCAAAGAAGAAAGTAGAAAGTTTA	0.338																																																	0																																										SO:0001589	frameshift_variant	54812			AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.1137_1161delAGTTGGTTCTCCCAAAGAAGAAAGT	2.37:g.64779745_64779769delAGTTGGTTCTCCCAAAGAAGAAAGT	ENSP00000397726:p.Glu379fs	Somatic		WXS	Illumina HiSeq	Phase_I	D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	Frame_Shift_Del	DEL	ENST00000422803.1	37																																																																																					0.338	AFTPH-202	KNOWN	basic	protein_coding	protein_coding			NM_017657	
AKAP9	10142	hgsc.bcm.edu;ucsc.edu	37	7	91630212	91630212	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:91630212G>T	ENST00000359028.2	+	9	1242	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	AKAP9_ENST00000356239.3_Missense_Mutation_p.K327N|AKAP9_ENST00000358100.2_Missense_Mutation_p.K339N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	339	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			tacaggaaaaggagacaatca	0.279			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													16.0	15.0	15.0					7																	91630212		1716	3321	5037	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1017G>T	7.37:g.91630212G>T	ENSP00000351922:p.Lys339Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	7.717	0.696452	0.15106	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.37235	1.21;1.21;1.21	5.56	0.708	0.18144	.	0.000000	0.41823	D	0.000809	T	0.50701	0.1631	L	0.56769	1.78	0.40006	D	0.975228	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.83275	0.986;0.996;0.925	T	0.49244	-0.8960	10	0.62326	D	0.03	.	10.0315	0.42103	0.5422:0.0:0.4578:0.0	.	327;327;339	Q99996-2;Q99996-3;A4D1E4	.;.;.	N	327;339;339;339;339	ENSP00000348573:K327N;ENSP00000351922:K339N;ENSP00000350813:K339N	ENSP00000348573:K327N	K	+	3	2	AKAP9	91468148	0.994000	0.37717	0.967000	0.41034	0.698000	0.40448	0.275000	0.18698	0.125000	0.18397	-0.145000	0.13849	AAG		0.279	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751	
AKAP9	10142	hgsc.bcm.edu;ucsc.edu	37	7	91724470	91724470	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:91724470G>T	ENST00000359028.2	+	40	9949	c.9724G>T	c.(9724-9726)Gat>Tat	p.D3242Y	AKAP9_ENST00000356239.3_Missense_Mutation_p.D3238Y|AKAP9_ENST00000358100.2_Missense_Mutation_p.D3188Y			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3242					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAGAACGGGATAAAGAAGA	0.398			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													95.0	102.0	100.0					7																	91724470		2203	4300	6503	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.9724G>T	7.37:g.91724470G>T	ENSP00000351922:p.Asp3242Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37		.	.	.	.	.	.	.	.	.	.	G	10.77	1.443191	0.25987	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.03496	4.0;4.0;3.99;3.91	5.56	5.56	0.83823	.	0.219510	0.23252	N	0.050222	T	0.09642	0.0237	L	0.54323	1.7	0.20638	N	0.999877	D;D;P;D;D	0.56035	0.971;0.974;0.956;0.974;0.974	P;P;P;P;P	0.51135	0.646;0.66;0.459;0.66;0.66	T	0.06162	-1.0842	10	0.48119	T	0.1	.	16.0993	0.81158	0.0:0.134:0.866:0.0	.	513;3242;3242;3238;3230	B3KQF9;Q99996-6;Q99996;Q99996-2;Q99996-3	.;.;AKAP9_HUMAN;.;.	Y	3238;3242;3188;3242;1084	ENSP00000348573:D3238Y;ENSP00000351922:D3242Y;ENSP00000350813:D3188Y;ENSP00000378042:D1084Y	ENSP00000348573:D3238Y	D	+	1	0	AKAP9	91562406	1.000000	0.71417	0.897000	0.35233	0.214000	0.24535	2.831000	0.48144	2.780000	0.95670	0.579000	0.79373	GAT		0.398	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751	
ALDH1A1	216	hgsc.bcm.edu;ucsc.edu	37	9	75545843	75545843	+	Silent	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr9:75545843T>C	ENST00000297785.3	-	3	318	c.264A>G	c.(262-264)ctA>ctG	p.L88L	ALDH1A1_ENST00000376939.1_Silent_p.L88L|ALDH1A1_ENST00000482210.1_5'UTR	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	88					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	ACTTGTATAATAGTCGCCCCC	0.498																																																	0													101.0	99.0	100.0					9																	75545843		2203	4300	6503	SO:0001819	synonymous_variant	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.264A>G	9.37:g.75545843T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O00768|Q5SYR1	Silent	SNP	ENST00000297785.3	37	CCDS6644.1																																																																																				0.498	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052679.1			
AKNA	80709	hgsc.bcm.edu;ucsc.edu	37	9	117130825	117130825	+	Silent	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr9:117130825T>A	ENST00000307564.4	-	5	1628	c.1467A>T	c.(1465-1467)ggA>ggT	p.G489G	AKNA_ENST00000374075.5_Silent_p.G408G|AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000312033.3_Silent_p.G489G|AKNA_ENST00000374088.3_Silent_p.G489G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	489					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGGCACCATTCCCGTGTGGA	0.662																																																	0													87.0	59.0	69.0					9																	117130825		2203	4300	6503	SO:0001819	synonymous_variant	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1467A>T	9.37:g.117130825T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Silent	SNP	ENST00000307564.4	37	CCDS6805.1																																																																																				0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053767.2		NM_030767	
ANTXR1	84168	hgsc.bcm.edu;ucsc.edu	37	2	69409628	69409628	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:69409628C>T	ENST00000303714.4	+	16	1511	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	RNA5SP96_ENST00000516041.1_RNA|RNU6-1216P_ENST00000362590.2_RNA	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	397					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ATTTTAGGTTCGTTGGGGAGA	0.413									Familial Infantile Hemangioma																																								0													74.0	71.0	72.0					2																	69409628		2203	4300	6503	SO:0001583	missense	84168	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1189C>T	2.37:g.69409628C>T	ENSP00000301945:p.Arg397Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Missense_Mutation	SNP	ENST00000303714.4	37	CCDS1892.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685499	0.68157	.	.	ENSG00000169604	ENST00000303714	D	0.84442	-1.85	5.32	5.32	0.75619	Anthrax toxin receptor, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.92496	0.7617	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92982	0.6407	10	0.87932	D	0	-13.21	18.1548	0.89687	0.0:1.0:0.0:0.0	.	397	Q9H6X2	ANTR1_HUMAN	C	397	ENSP00000301945:R397C	ENSP00000301945:R397C	R	+	1	0	ANTXR1	69263132	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.109000	0.77062	2.769000	0.95229	0.561000	0.74099	CGT		0.413	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251770.2		NM_032208	
APPL2	55198	hgsc.bcm.edu;ucsc.edu	37	12	105582070	105582070	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:105582070C>G	ENST00000258530.3	-	17	1840	c.1615G>C	c.(1615-1617)Gtc>Ctc	p.V539L	APPL2_ENST00000551662.1_Missense_Mutation_p.V545L|APPL2_ENST00000539978.2_Missense_Mutation_p.V496L	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGACTGGTGACCATCAGATGG	0.413																																																	0													152.0	133.0	140.0					12																	105582070		2203	4300	6503	SO:0001583	missense	55198			AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.1615G>C	12.37:g.105582070C>G	ENSP00000258530:p.Val539Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	C	15.69	2.907210	0.52333	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662;ENST00000553109	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.36	4.47	0.54385	Phosphotyrosine interaction domain (2);Pleckstrin homology-type (1);	0.057421	0.64402	D	0.000002	T	0.27489	0.0675	M	0.62723	1.935	0.51767	D	0.999936	P;P;P	0.46395	0.877;0.838;0.597	B;B;B	0.38954	0.286;0.256;0.216	T	0.07927	-1.0747	10	0.48119	T	0.1	-17.6301	14.1216	0.65192	0.0:0.9273:0.0:0.0727	.	545;496;539	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	L	539;496;545;70	ENSP00000258530:V539L;ENSP00000444472:V496L;ENSP00000446917:V545L;ENSP00000446510:V70L	ENSP00000258530:V539L	V	-	1	0	APPL2	104106200	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	4.053000	0.57427	1.251000	0.43983	0.643000	0.83706	GTC		0.413	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3		NM_018171	
LVRN	206338	hgsc.bcm.edu;ucsc.edu	37	5	115348099	115348099	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:115348099T>A	ENST00000357872.4	+	15	2400	c.2276T>A	c.(2275-2277)aTa>aAa	p.I759K		NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		759						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										CTTAATTTAATATGGAATATT	0.279																																																	0													49.0	57.0	54.0					5																	115348099		2191	4253	6444	SO:0001583	missense	206338																														ENST00000357872.4:c.2276T>A	5.37:g.115348099T>A	ENSP00000350541:p.Ile759Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Missense_Mutation	SNP	ENST00000357872.4	37	CCDS4124.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.686958	0.48097	.	.	ENSG00000172901	ENST00000357872;ENST00000379578	T	0.06528	3.29	5.43	4.27	0.50696	.	0.244995	0.33235	N	0.005128	T	0.19644	0.0472	M	0.75264	2.295	0.80722	D	1	D	0.64830	0.994	D	0.63703	0.917	T	0.00287	-1.1846	10	0.87932	D	0	.	8.3273	0.32165	0.0:0.0901:0.0:0.9099	.	759	Q6Q4G3	AMPQ_HUMAN	K	759;748	ENSP00000350541:I759K	ENSP00000350541:I759K	I	+	2	0	AC010282.1	115375998	0.993000	0.37304	0.695000	0.30226	0.449000	0.32228	2.677000	0.46892	0.992000	0.38840	-0.256000	0.11100	ATA		0.279	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250852.1			
ARHGAP26	23092	hgsc.bcm.edu;ucsc.edu	37	5	142500712	142500712	+	Splice_Site	SNP	G	G	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:142500712G>C	ENST00000274498.4	+	18	2076	c.1698G>C	c.(1696-1698)aaG>aaC	p.K566N	ARHGAP26_ENST00000378004.3_Splice_Site_p.K566N	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	566	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACGAAAAGGTAATATGTA	0.428																																																	0													92.0	84.0	87.0					5																	142500712		2203	4300	6503	SO:0001630	splice_region_variant	23092			AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1698+1G>C	5.37:g.142500712G>C		Somatic		WXS	Illumina HiSeq	Phase_I	O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	CCDS4277.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.593273|4.593273	0.86953|0.86953	.|.	.|.	ENSG00000145819|ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668|ENST00000443674;ENST00000418236	T;T|.	0.22743|.	1.94;1.94|.	5.38|5.38	5.38|5.38	0.77491|0.77491	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);|.	0.100496|.	0.64402|.	D|.	0.000002|.	T|T	0.74030|0.74030	0.3663|0.3663	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	D;D;P|.	0.69078|.	0.994;0.997;0.856|.	P;D;P|.	0.67382|.	0.904;0.951;0.757|.	T|T	0.72130|0.72130	-0.4383|-0.4383	10|5	0.72032|.	D|.	0.01|.	.|.	19.1627|19.1627	0.93541|0.93541	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	566;139;566|.	Q9UNA1;B3KT96;Q9UNA1-2|.	RHG26_HUMAN;.;.|.	N|T	566;566;139|185;138	ENSP00000274498:K566N;ENSP00000367243:K566N|.	ENSP00000274498:K566N|.	K|R	+|+	3|2	2|0	ARHGAP26|ARHGAP26	142480905|142480905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.875000|0.875000	0.50365|0.50365	9.476000|9.476000	0.97823|0.97823	2.515000|2.515000	0.84797|0.84797	0.655000|0.655000	0.94253|0.94253	AAG|AGA		0.428	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3		NM_015071	Missense_Mutation
ARID1B	57492	hgsc.bcm.edu;ucsc.edu	37	6	157505418	157505418	+	Silent	SNP	C	C	G	rs142391292	byFrequency	TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:157505418C>G	ENST00000350026.5	+	12	3361	c.3360C>G	c.(3358-3360)acC>acG	p.T1120T	ARID1B_ENST00000367148.1_Silent_p.T1173T|ARID1B_ENST00000346085.5_Silent_p.T1133T|ARID1B_ENST00000275248.4_Silent_p.T1115T	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1120	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACGTTGGCACCTCAAGCAGTG	0.498																																																	0													93.0	88.0	90.0					6																	157505418		2203	4296	6499	SO:0001819	synonymous_variant	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3360C>G	6.37:g.157505418C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																				0.498	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1		NM_020732	
BCOR	54880	hgsc.bcm.edu;ucsc.edu	37	X	39931683	39931683	+	Nonsense_Mutation	SNP	G	G	T	rs370067698		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chrX:39931683G>T	ENST00000378444.4	-	4	3144	c.2916C>A	c.(2914-2916)taC>taA	p.Y972*	BCOR_ENST00000397354.3_Nonsense_Mutation_p.Y972*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.Y972*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.Y972*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	972					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTCACCCACGTAACCCGCTG	0.517			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													78.0	47.0	58.0					X																	39931683		2201	4300	6501	SO:0001587	stop_gained	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2916C>A	X.37:g.39931683G>T	ENSP00000367705:p.Tyr972*	Somatic		WXS	Illumina HiSeq	Phase_I	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	40	8.232810	0.98717	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	.	.	.	5.83	0.298	0.15766	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.195	12.0877	0.53706	0.5008:0.0:0.4992:0.0	.	.	.	.	X	972;972;972;972;972;379	.	ENSP00000345923:Y972X	Y	-	3	2	BCOR	39816627	0.804000	0.28969	0.998000	0.56505	0.998000	0.95712	-0.055000	0.11807	-0.025000	0.13918	0.600000	0.82982	TAC		0.517	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2		NM_017745	
BHLHE40	8553	hgsc.bcm.edu;ucsc.edu	37	3	5022085	5022085	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr3:5022085A>G	ENST00000256495.3	+	3	853	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	BHLHE40-AS1_ENST00000420832.1_RNA|BHLHE40-AS1_ENST00000441386.2_RNA|BHLHE40-AS1_ENST00000434530.1_RNA	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	84	Essential for its interaction with ARNTL/BMAL1, E-box binding and repressor activity against the CLOCK-ARNTL/BMAL1 heterodimer.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|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)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						CGAACATCTCAAACTTACAGT	0.582											OREG0015367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													56.0	58.0	58.0					3																	5022085		2203	4300	6503	SO:0001583	missense	8553			AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.250A>G	3.37:g.5022085A>G	ENSP00000256495:p.Lys84Glu	Somatic	623	WXS	Illumina HiSeq	Phase_I	Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.456633	0.84317	.	.	ENSG00000134107	ENST00000256495	D	0.97888	-4.59	3.99	3.99	0.46301	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	N	0.16066	0.365	0.80722	D	1	P	0.45986	0.87	D	0.63597	0.916	D	0.95117	0.8243	10	0.27785	T	0.31	.	13.2035	0.59782	1.0:0.0:0.0:0.0	.	84	O14503	BHE40_HUMAN	E	84	ENSP00000256495:K84E	ENSP00000256495:K84E	K	+	1	0	BHLHE40	4997085	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.781000	0.91805	1.584000	0.49913	0.482000	0.46254	AAA		0.582	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2		NM_003670	
BRDT	676	hgsc.bcm.edu;ucsc.edu	37	1	92445158	92445158	+	Silent	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:92445158G>A	ENST00000362005.3	+	9	1549	c.1131G>A	c.(1129-1131)ccG>ccA	p.P377P	BRDT_ENST00000402388.1_Silent_p.P377P|BRDT_ENST00000394530.3_Silent_p.P331P|BRDT_ENST00000399546.2_Silent_p.P377P|BRDT_ENST00000370389.2_Silent_p.P304P|BRDT_ENST00000484781.1_3'UTR	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	377					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAAAGATCCCGATTGAACCTG	0.348																																																	0													95.0	95.0	95.0					1																	92445158		2203	4300	6503	SO:0001819	synonymous_variant	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1131G>A	1.37:g.92445158G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	CCDS735.1																																																																																				0.348	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2		NM_207189	
SKIDA1	387640	hgsc.bcm.edu;ucsc.edu	37	10	21804074	21804074	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr10:21804074G>A	ENST00000449193.2	-	4	4930	c.2678C>T	c.(2677-2679)tCt>tTt	p.S893F	SKIDA1_ENST00000444772.3_Missense_Mutation_p.S814F	NM_207371.3	NP_997254.3	Q1XH10	SKDA1_HUMAN	SKI/DACH domain containing 1	812						nucleus (GO:0005634)											AGGTATTGCAGAACCGCCCAG	0.403																																																	0													41.0	39.0	39.0					10																	21804074		1827	4088	5915	SO:0001583	missense	0			AK131456	CCDS44363.1	10p12.31	2012-06-13	2012-06-13	2012-06-13	ENSG00000180592	ENSG00000180592			32697	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 140"""	C10orf140			Standard	NM_207371		Approved	FLJ45187	uc021pnx.1	Q1XH10	OTTHUMG00000017797	ENST00000449193.2:c.2678C>T	10.37:g.21804074G>A	ENSP00000410041:p.Ser893Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B1ANA5|Q6ZMX4|Q8N3C3	Missense_Mutation	SNP	ENST00000449193.2	37	CCDS44363.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464818	0.43839	.	.	ENSG00000180592	ENST00000449193;ENST00000444772	.	.	.	5.64	5.64	0.86602	.	0.214543	0.41938	D	0.000796	T	0.66025	0.2748	L	0.29908	0.895	0.43527	D	0.995806	D	0.71674	0.998	P	0.61940	0.896	T	0.68307	-0.5443	9	0.87932	D	0	-0.7813	19.6637	0.95885	0.0:0.0:1.0:0.0	.	893	E9PAX1	.	F	893;814	.	ENSP00000442432:S814F	S	-	2	0	C10orf140	21844080	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.818000	0.62657	2.821000	0.97095	0.655000	0.94253	TCT		0.403	SKIDA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286950.2		NM_207371	
C1R	715	hgsc.bcm.edu;ucsc.edu	37	12	7189386	7189386	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:7189386C>T	ENST00000542285.1	-	10	1291	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D				P00736	C1R_HUMAN	complement component 1, r subcomponent	433	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTTCCAAATGCCCTGTGCTGT	0.542																																																	0													67.0	69.0	69.0					12																	7189386		692	1591	2283	SO:0001583	missense	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1142G>A	12.37:g.7189386C>T	ENSP00000438615:p.Gly381Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	ENST00000542285.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238957|3.238957	0.58995|0.58995	.|.	.|.	ENSG00000159403|ENSG00000159403	ENST00000542220;ENST00000536053;ENST00000535233|ENST00000290575;ENST00000542285	.|T	.|0.60299	.|0.2	4.32|4.32	4.32|4.32	0.51571|0.51571	.|Complement control module (2);Sushi/SCR/CCP (3);	.|.	.|.	.|.	.|.	T|T	0.75332|0.75332	0.3835|0.3835	.|.	.|.	.|.	0.34904|0.34904	D|D	0.746797|0.746797	.|D	.|0.71674	.|0.998	.|D	.|0.71184	.|0.972	D|D	0.84323|0.84323	0.0517|0.0517	5|8	0.62326|0.87932	D|D	0.03|0	.|.	15.2046|15.2046	0.73169|0.73169	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|433	.|P00736	.|C1R_HUMAN	T|D	355;369;321|396;381	.|ENSP00000438615:G381D	ENSP00000438636:A321T|ENSP00000290575:G396D	A|G	-|-	1|2	0|0	C1R|C1R	.|.	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.162000|5.162000	0.64942|0.64942	2.234000|2.234000	0.73211|0.73211	0.644000|0.644000	0.83932|0.83932	GCA|GGC		0.542	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_001733	
CFAP61	26074	hgsc.bcm.edu;ucsc.edu	37	20	20243667	20243667	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr20:20243667A>T	ENST00000245957.5	+	21	2472	c.2396A>T	c.(2395-2397)cAg>cTg	p.Q799L	C20orf26_ENST00000377309.2_Missense_Mutation_p.Q155L|C20orf26_ENST00000389656.3_Missense_Mutation_p.Q155L|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.Q155L	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		799										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACAGCAGTCAGCGGCGGTAC	0.473																																																	0													118.0	116.0	117.0					20																	20243667		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.2396A>T	20.37:g.20243667A>T	ENSP00000245957:p.Gln799Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	A	9.913	1.210187	0.22289	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.06	0.125	0.14718	.	0.877211	0.10264	N	0.695656	T	0.09423	0.0232	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.32798	-0.9893	10	0.28530	T	0.3	.	3.9069	0.09186	0.5234:0.0:0.2227:0.2539	.	779;155;799	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	L	739;155;155;779;799;155	ENSP00000366524:Q155L;ENSP00000374307:Q155L;ENSP00000245957:Q799L;ENSP00000366508:Q155L	ENSP00000245957:Q799L	Q	+	2	0	C20orf26	20191667	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.490000	0.22403	-0.166000	0.10890	-0.256000	0.11100	CAG		0.473	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			
MGARP	84709	hgsc.bcm.edu;ucsc.edu	37	4	140188044	140188044	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:140188044C>A	ENST00000398955.1	-	4	611	c.432G>T	c.(430-432)gaG>gaT	p.E144D		NM_032623.3	NP_116012.2	Q8TDB4	HUMMR_HUMAN	mitochondria-localized glutamic acid-rich protein	144					anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cellular response to gonadotropin-releasing hormone (GO:0097211)|cellular response to hypoxia (GO:0071456)|cellular response to steroid hormone stimulus (GO:0071383)|positive regulation of mitochondrion organization (GO:0010822)|protein targeting to mitochondrion (GO:0006626)|retrograde axon cargo transport (GO:0008090)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)											CCGGAGCAGCCTCCACGTGAC	0.542																																																	0													156.0	152.0	153.0					4																	140188044		2062	4208	6270	SO:0001583	missense	0			AF484960	CCDS43269.1	4q31.1	2014-02-19	2014-02-19	2012-04-17	ENSG00000137463	ENSG00000137463			29969	protein-coding gene	gene with protein product	"""ovary-specific acidic protein"", ""corneal endothelium-specific protein 1"", ""hypoxia up-regulated mitochondrial movement regulator"""		"""chromosome 4 open reading frame 49"""	C4orf49			Standard	NM_032623		Approved	OSAP, CESP-1, HUMMR	uc003ihr.1	Q8TDB4	OTTHUMG00000161325	ENST00000398955.1:c.432G>T	4.37:g.140188044C>A	ENSP00000381928:p.Glu144Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BZC3	Missense_Mutation	SNP	ENST00000398955.1	37	CCDS43269.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286444	0.40494	.	.	ENSG00000137463	ENST00000398955	T	0.51817	0.69	4.9	0.865	0.19074	.	0.879803	0.09582	N	0.782673	T	0.28400	0.0702	L	0.29908	0.895	0.09310	N	0.99999	B	0.21225	0.053	B	0.21917	0.037	T	0.25047	-1.0143	10	0.18276	T	0.48	-8.3304	1.1236	0.01730	0.17:0.4149:0.2109:0.2042	.	144	Q8TDB4	CD049_HUMAN	D	144	ENSP00000381928:E144D	ENSP00000381928:E144D	E	-	3	2	C4orf49	140407494	0.000000	0.05858	0.001000	0.08648	0.300000	0.27592	-0.058000	0.11750	0.244000	0.21351	0.467000	0.42956	GAG		0.542	MGARP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364536.1		NM_032623	
SUGCT	79783	hgsc.bcm.edu;ucsc.edu	37	7	40488943	40488943	+	Missense_Mutation	SNP	G	G	C	rs375123333		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:40488943G>C	ENST00000335693.4	+	10	918	c.895G>C	c.(895-897)Gcc>Ccc	p.A299P	C7orf10_ENST00000401647.2_Missense_Mutation_p.A251P|C7orf10_ENST00000309930.5_Missense_Mutation_p.A299P	NM_001193313.1	NP_001180242.1	Q9HAC7	SUCHY_HUMAN		299					metabolic process (GO:0008152)	mitochondrion (GO:0005739)	succinate-hydroxymethylglutarate CoA-transferase activity (GO:0047369)			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCAGCAGTTTGCCACCGTCTG	0.373																																																	0													113.0	107.0	109.0					7																	40488943		1832	4094	5926	SO:0001583	missense	79783																														ENST00000335693.4:c.895G>C	7.37:g.40488943G>C	ENSP00000338475:p.Ala299Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1W5|B4DR73|Q4KMW4|Q4KMW8|Q4KMZ0|Q8TE00|Q8TEY1	Missense_Mutation	SNP	ENST00000335693.4	37	CCDS55105.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.38|11.38	1.620222|1.620222	0.28801|0.28801	.|.	.|.	ENSG00000175600|ENSG00000175600	ENST00000309930;ENST00000401647;ENST00000335693|ENST00000416370	T;T;T|.	0.76968|.	-1.06;-1.06;-1.06|.	5.4|5.4	2.5|2.5	0.30297|0.30297	CoA-transferase family III domain (2);|.	0.403091|.	0.25622|.	N|.	0.029415|.	T|T	0.62998|0.62998	0.2474|0.2474	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	P;P;P|.	0.47604|.	0.767;0.86;0.898|.	P;P;P|.	0.54026|.	0.74;0.74;0.622|.	T|T	0.57929|0.57929	-0.7726|-0.7726	10|5	0.30078|.	T|.	0.28|.	-6.2386|-6.2386	6.1338|6.1338	0.20219|0.20219	0.161:0.0:0.6891:0.1498|0.161:0.0:0.6891:0.1498	.|.	251;299;262|.	Q4KMW8;Q9HAC7;Q9HAC7-2|.	.;CG010_HUMAN;.|.	P|F	299;251;299|293	ENSP00000312054:A299P;ENSP00000385222:A251P;ENSP00000338475:A299P|.	ENSP00000312054:A299P|.	A|L	+|+	1|3	0|2	C7orf10|C7orf10	40455468|40455468	0.998000|0.998000	0.40836|0.40836	0.886000|0.886000	0.34754|0.34754	0.166000|0.166000	0.22503|0.22503	2.909000|2.909000	0.48758|0.48758	0.289000|0.289000	0.22422|0.22422	-0.142000|-0.142000	0.14014|0.14014	GCC|TTG		0.373	C7orf10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000338388.1			
CAPS2	84698	hgsc.bcm.edu;ucsc.edu	37	12	75716783	75716783	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:75716783G>A	ENST00000409445.3	-	5	515	c.319C>T	c.(319-321)Cca>Tca	p.P107S	CAPS2_ENST00000442339.2_Intron|CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000409799.1_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	107							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						TGAGTATATGGAGTTTGACAT	0.279																																																	0													35.0	32.0	33.0					12																	75716783		692	1588	2280	SO:0001583	missense	84698			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.319C>T	12.37:g.75716783G>A	ENSP00000386959:p.Pro107Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	ENST00000409445.3	37	CCDS9008.2	.	.	.	.	.	.	.	.	.	.	G	2.164	-0.391494	0.04932	.	.	ENSG00000180881	ENST00000409445	T	0.53857	0.6	4.75	0.448	0.16614	.	0.536026	0.16955	N	0.192729	T	0.29976	0.0750	N	0.16656	0.425	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.12218	-1.0556	10	0.40728	T	0.16	-0.2773	4.9691	0.14105	0.2715:0.0:0.5838:0.1447	.	107	Q9BXY5	CAYP2_HUMAN	S	107	ENSP00000386959:P107S	ENSP00000386959:P107S	P	-	1	0	CAPS2	74003050	0.004000	0.15560	0.000000	0.03702	0.008000	0.06430	0.559000	0.23485	-0.008000	0.14320	-0.268000	0.10319	CCA		0.279	CAPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327880.2			
CASK	8573	hgsc.bcm.edu;ucsc.edu	37	X	41428920	41428920	+	Splice_Site	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chrX:41428920C>T	ENST00000378163.1	-	16	2057		c.e16+1		CASK_ENST00000421587.2_Splice_Site|CASK_ENST00000442742.2_Splice_Site|CASK_ENST00000472704.1_Splice_Site|CASK_ENST00000378154.1_Splice_Site|CASK_ENST00000361962.4_Splice_Site|CASK_ENST00000378166.4_Splice_Site|RNU6-1321P_ENST00000390905.1_RNA|CASK_ENST00000318588.9_Splice_Site|CASK_ENST00000378158.1_Splice_Site			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)						calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						ATGAAACTTACCTTGCCTGTG	0.303																																					NSCLC(42;104 1086 3090 27189 35040)												0													106.0	103.0	104.0					X																	41428920		2202	4300	6502	SO:0001630	splice_region_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.1582+1G>A	X.37:g.41428920C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Splice_Site	SNP	ENST00000378163.1	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.137726	0.77775	.	.	ENSG00000147044	ENST00000421587;ENST00000318588;ENST00000361962;ENST00000378163;ENST00000378179;ENST00000378158;ENST00000378166;ENST00000442742;ENST00000378154	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5898	0.87992	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASK	41313864	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.109000	0.77062	2.081000	0.62600	0.538000	0.68166	.		0.303	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000056285.1		NM_003688	Intron
CMTM2	146225	hgsc.bcm.edu;ucsc.edu	37	16	66621879	66621879	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr16:66621879C>A	ENST00000268595.2	+	4	755	c.604C>A	c.(604-606)Cac>Aac	p.H202N	CMTM2_ENST00000379486.2_Missense_Mutation_p.H149N	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	202	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TCAAAGAAACCACTTCAGAGG	0.483																																																	0													124.0	139.0	134.0					16																	66621879		2201	4300	6501	SO:0001583	missense	146225			BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.604C>A	16.37:g.66621879C>A	ENSP00000268595:p.His202Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	C	5.073	0.199169	0.09652	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.48836	0.8;1.43	3.99	1.94	0.25998	Marvel (1);	0.144833	0.32533	N	0.005961	T	0.25938	0.0632	N	0.12961	0.28	0.09310	N	1	B;B	0.16802	0.019;0.01	B;B	0.16289	0.015;0.015	T	0.16837	-1.0389	10	0.20046	T	0.44	.	8.8719	0.35320	0.1656:0.6759:0.1585:0.0	.	149;202	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	N	149;202	ENSP00000368800:H149N;ENSP00000268595:H202N	ENSP00000268595:H202N	H	+	1	0	CMTM2	65179380	0.837000	0.29446	0.033000	0.17914	0.013000	0.08279	0.524000	0.22940	0.232000	0.21100	-1.367000	0.01198	CAC		0.483	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268808.1			
COL5A3	50509	hgsc.bcm.edu;ucsc.edu	37	19	10080071	10080072	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr19:10080071_10080072insGT	ENST00000264828.3	-	57	4190_4191	c.4105_4106insAC	c.(4105-4107)ccafs	p.P1369fs		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1369	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGGAGGCCTGGTTCACCCTGA	0.629																																																	0																																										SO:0001589	frameshift_variant	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4104_4105dupAC	19.37:g.10080072_10080073dupGT	ENSP00000264828:p.Pro1369fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZQ6	Frame_Shift_Ins	INS	ENST00000264828.3	37	CCDS12222.1																																																																																				0.629	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719	
COX6B2	125965	hgsc.bcm.edu;ucsc.edu	37	19	55865854	55865854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr19:55865854delC	ENST00000593184.1	-	2	115	c.36delG	c.(34-36)gggfs	p.G12fs	COX6B2_ENST00000589879.1_5'Flank|COX6B2_ENST00000326529.4_Frame_Shift_Del_p.G12fs|COX6B2_ENST00000590900.1_Frame_Shift_Del_p.G12fs|COX6B2_ENST00000588572.2_Frame_Shift_Del_p.G12fs|COX6B2_ENST00000589467.1_Frame_Shift_Del_p.G12fs|CTD-2105E13.6_ENST00000591954.3_3'UTR			Q6YFQ2	CX6B2_HUMAN	cytochrome c oxidase subunit VIb polypeptide 2 (testis)	12						mitochondrial crista (GO:0030061)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|kidney(1)|lung(2)|pancreas(1)	5	Breast(117;0.191)	Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCGACCATTTCCCCTTGGGGG	0.652																																					NSCLC(77;1057 1395 2148 36198 42783)												0													113.0	119.0	117.0					19																	55865854		1899	4097	5996	SO:0001589	frameshift_variant	125965			AK057427	CCDS42630.1	19q13.42	2011-07-04						"""Mitochondrial respiratory chain complex / Complex IV"""	24380	protein-coding gene	gene with protein product	"""cytochrome c oxidase subunit VIb, testes specific"", ""cancer/testis antigen 59"""					12874793	Standard	NM_144613		Approved	COXVIB2, FLJ32865, CT59	uc002qkn.3	Q6YFQ2		ENST00000593184.1:c.36delG	19.37:g.55865854delC	ENSP00000467266:p.Gly12fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7L1R4|Q96DL5	Frame_Shift_Del	DEL	ENST00000593184.1	37	CCDS42630.1																																																																																				0.652	COX6B2-003	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452965.2		NM_144613	
CPEB4	80315	hgsc.bcm.edu;ucsc.edu	37	5	173317715	173317715	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:173317715delC	ENST00000265085.5	+	1	2433	c.979delC	c.(979-981)cccfs	p.P327fs	CPEB4_ENST00000519835.1_Frame_Shift_Del_p.P327fs|CPEB4_ENST00000517880.1_5'Flank|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.P327fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.P327fs|CPEB4_ENST00000522336.1_5'Flank	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	327					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGGAATAACGCCCCTGAACTC	0.547																																																	0													62.0	62.0	62.0					5																	173317715		2203	4300	6503	SO:0001589	frameshift_variant	80315			BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.979delC	5.37:g.173317715delC	ENSP00000265085:p.Pro327fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Frame_Shift_Del	DEL	ENST00000265085.5	37	CCDS4390.1																																																																																				0.547	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2		NM_030627	
CRB1	23418	hgsc.bcm.edu;ucsc.edu	37	1	197396890	197396890	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:197396890A>T	ENST00000367400.3	+	7	2570	c.2435A>T	c.(2434-2436)cAa>cTa	p.Q812L	CRB1_ENST00000367397.1_Missense_Mutation_p.Q193L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.Q293L|CRB1_ENST00000367399.2_Missense_Mutation_p.Q700L|CRB1_ENST00000535699.1_Missense_Mutation_p.Q743L	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	812	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGTCTTCACAAAACCTAGGA	0.353																																																	0													50.0	50.0	50.0					1																	197396890		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2435A>T	1.37:g.197396890A>T	ENSP00000356370:p.Gln812Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	A	16.78	3.217510	0.58560	.	.	ENSG00000134376	ENST00000535699;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367397;ENST00000367401	T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.84817	0.5556	M	0.66506	2.035	0.48571	D	0.999674	D;D;D;D	0.69078	0.997;0.992;0.96;0.997	D;D;P;D	0.80764	0.993;0.979;0.663;0.994	T	0.81831	-0.0752	9	0.12103	T	0.63	.	14.9845	0.71336	1.0:0.0:0.0:0.0	.	743;700;461;812	F5H0L2;P82279-3;P82279-4;P82279	.;.;.;CRUM1_HUMAN	L	743;812;700;293;193;461	ENSP00000438786:Q743L;ENSP00000356370:Q812L;ENSP00000356369:Q700L;ENSP00000444556:Q293L;ENSP00000356367:Q193L	ENSP00000356367:Q193L	Q	+	2	0	CRB1	195663513	0.996000	0.38824	0.997000	0.53966	0.117000	0.20001	2.355000	0.44107	1.934000	0.56057	0.528000	0.53228	CAA		0.353	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253	
CYFIP2	26999	hgsc.bcm.edu;ucsc.edu	37	5	156750963	156750963	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:156750963T>C	ENST00000521420.1	+	15	1719	c.1628T>C	c.(1627-1629)aTt>aCt	p.I543T	CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000541131.1_Missense_Mutation_p.I494T|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000318218.6_Missense_Mutation_p.I594T|CYFIP2_ENST00000347377.6_Missense_Mutation_p.I569T|CYFIP2_ENST00000522463.1_Missense_Mutation_p.I373T|CYFIP2_ENST00000435847.2_Missense_Mutation_p.I268T|CYFIP2_ENST00000377576.3_Missense_Mutation_p.I569T					cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAATCACTCATTGCAGACAAA	0.502																																																	0													60.0	57.0	58.0					5																	156750963		1925	4129	6054	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.1628T>C	5.37:g.156750963T>C	ENSP00000430904:p.Ile543Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	T	22.1	4.250632	0.80135	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.91	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.50051	0.1593	M	0.77103	2.36	0.80722	D	1	B;B;D;B;B;B	0.55800	0.08;0.25;0.973;0.021;0.1;0.134	B;B;P;B;B;B	0.58013	0.067;0.158;0.831;0.015;0.073;0.046	T	0.50558	-0.8814	10	0.44086	T	0.13	-31.3696	12.3726	0.55263	0.1265:0.0:0.0:0.8735	.	433;373;543;569;569;594	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	T	594;373;543;569;569;494;268	ENSP00000325817:I594T;ENSP00000428009:I373T;ENSP00000430904:I543T;ENSP00000313567:I569T;ENSP00000366799:I569T;ENSP00000444645:I494T;ENSP00000403793:I268T	ENSP00000325817:I594T	I	+	2	0	CYFIP2	156683541	1.000000	0.71417	0.993000	0.49108	0.951000	0.60555	7.997000	0.88414	1.034000	0.39945	0.533000	0.62120	ATT		0.502	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1		NM_001037332	
DAK	26007	hgsc.bcm.edu;ucsc.edu	37	11	61113379	61113379	+	Silent	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:61113379A>G	ENST00000394900.3	+	17	1765	c.1536A>G	c.(1534-1536)ccA>ccG	p.P512P	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	512	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GGAAGAGCCCAGGAGCTGATC	0.617																																																	0													62.0	63.0	63.0					11																	61113379		2203	4299	6502	SO:0001819	synonymous_variant	26007				CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1536A>G	11.37:g.61113379A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	ENST00000394900.3	37	CCDS8003.1																																																																																				0.617	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4		NM_015533	
DNAH14	127602	hgsc.bcm.edu;ucsc.edu	37	1	225586358	225586358	+	Nonsense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:225586358T>A	ENST00000445597.2	+	60	10298	c.10298T>A	c.(10297-10299)tTg>tAg	p.L3433*	DNAH14_ENST00000439375.2_Nonsense_Mutation_p.L4441*|DNAH14_ENST00000430092.1_Nonsense_Mutation_p.L4441*			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	3433					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						ATATACTTTTTGCCAACAAAG	0.428																																																	0													111.0	92.0	97.0					1																	225586358		692	1591	2283	SO:0001587	stop_gained	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.10298T>A	1.37:g.225586358T>A	ENSP00000409472:p.Leu3433*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Nonsense_Mutation	SNP	ENST00000445597.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.15|19.15	3.771982|3.771982	0.69992|0.69992	.|.	.|.	ENSG00000185842|ENSG00000185842	ENST00000428003|ENST00000445597;ENST00000430092;ENST00000439375	T|.	0.07567|.	3.18|.	5.13|5.13	3.91|3.91	0.45181|0.45181	.|.	.|.	.|.	.|.	.|.	T|.	0.52008|.	0.1708|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39663|.	-0.9603|.	6|.	0.02654|0.18710	T|T	1|0.47	.|.	9.9549|9.9549	0.41660|0.41660	0.0:0.0:0.1701:0.8299|0.0:0.0:0.1701:0.8299	.|.	.|.	.|.	.|.	L|X	144|3433;4441;4441	ENSP00000414699:F144L|.	ENSP00000414699:F144L|ENSP00000414402:L4441X	F|L	+|+	3|2	2|0	DNAH14|DNAH14	223652981|223652981	0.968000|0.968000	0.33430|0.33430	0.931000|0.931000	0.37212|0.37212	0.877000|0.877000	0.50540|0.50540	1.765000|1.765000	0.38481|0.38481	2.239000|2.239000	0.73571|0.73571	0.383000|0.383000	0.25322|0.25322	TTT|TTG		0.428	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3		XM_059166	
DNAH5	1767	hgsc.bcm.edu;ucsc.edu	37	5	13717541	13717541	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:13717541C>A	ENST00000265104.4	-	73	12692	c.12588G>T	c.(12586-12588)caG>caT	p.Q4196H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4196	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGCGCCTCTCCTGGACAGTGG	0.552									Kartagener syndrome																																								0													67.0	61.0	63.0					5																	13717541		2203	4300	6503	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12588G>T	5.37:g.13717541C>A	ENSP00000265104:p.Gln4196His	Somatic		WXS	Illumina HiSeq	Phase_I	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	18.61	3.662071	0.67700	.	.	ENSG00000039139	ENST00000265104	T	0.10099	2.91	5.45	3.42	0.39159	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.37293	0.0998	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.27502	-1.0072	10	0.87932	D	0	.	6.1357	0.20230	0.0:0.6573:0.0:0.3427	.	4196	Q8TE73	DYH5_HUMAN	H	4196	ENSP00000265104:Q4196H	ENSP00000265104:Q4196H	Q	-	3	2	DNAH5	13770541	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	1.389000	0.34453	1.305000	0.44909	0.655000	0.94253	CAG		0.552	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369	
DNAH8	1769	hgsc.bcm.edu;ucsc.edu	37	6	38881667	38881667	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:38881667T>A	ENST00000359357.3	+	65	9505	c.9251T>A	c.(9250-9252)cTc>cAc	p.L3084H	DNAH8_ENST00000449981.2_Missense_Mutation_p.L3301H|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3048H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3084	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTTGCTAAACTCTCTCAGGAT	0.373																																																	0													140.0	137.0	138.0					6																	38881667		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9251T>A	6.37:g.38881667T>A	ENSP00000352312:p.Leu3084His	Somatic		WXS	Illumina HiSeq	Phase_I	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	26.6	4.750767	0.89753	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	D;D;D	0.81908	-1.55;-1.55;-1.55	6.08	6.08	0.98989	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	D	0.93543	0.7939	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95363	0.8457	10	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	3084	Q96JB1	DYH8_HUMAN	H	3289;3289;3084;3048	ENSP00000333363:L3289H;ENSP00000352312:L3084H;ENSP00000402294:L3048H	ENSP00000333363:L3289H	L	+	2	0	DNAH8	38989645	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.793000	0.85851	2.333000	0.79357	0.533000	0.62120	CTC		0.373	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927	
DSE	29940	hgsc.bcm.edu;ucsc.edu	37	6	116757866	116757866	+	Silent	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:116757866C>T	ENST00000331677.3	+	7	2679	c.2235C>T	c.(2233-2235)aaC>aaT	p.N745N	DSE_ENST00000452085.3_Silent_p.N745N|DSE_ENST00000359564.2_Silent_p.N745N|DSE_ENST00000537543.1_Silent_p.N764N			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	745					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TGGAACAGAACTTGCAGCATT	0.478																																																	0													71.0	71.0	71.0					6																	116757866		2203	4300	6503	SO:0001819	synonymous_variant	29940			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.2235C>T	6.37:g.116757866C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5R3K6	Silent	SNP	ENST00000331677.3	37	CCDS5107.1																																																																																				0.478	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041940.2		NM_013352	
EPHB4	2050	hgsc.bcm.edu;ucsc.edu	37	7	100405125	100405125	+	Silent	SNP	G	G	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:100405125G>C	ENST00000358173.3	-	13	2664	c.2196C>G	c.(2194-2196)gcC>gcG	p.A732A	EPHB4_ENST00000360620.3_Silent_p.A732A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCTCATCTCGGCAAGGTACC	0.592																																					GBM(200;2113 3072 25865 52728)												0													167.0	127.0	140.0					7																	100405125		2203	4300	6503	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2196C>G	7.37:g.100405125G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	CCDS5706.1																																																																																				0.592	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1		NM_004444	
EPS8L3	79574	hgsc.bcm.edu;ucsc.edu	37	1	110300154	110300154	+	Silent	SNP	C	C	T	rs573056467		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:110300154C>T	ENST00000361965.4	-	11	1024	c.918G>A	c.(916-918)aaG>aaA	p.K306K	EPS8L3_ENST00000369805.3_Silent_p.K307K|EPS8L3_ENST00000494151.1_5'Flank|RP4-735C1.4_ENST00000431955.1_RNA|EPS8L3_ENST00000361852.4_Silent_p.K306K	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	306						cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CACTTGTCTCCTTCAGCCAGG	0.557																																																	0													82.0	71.0	75.0					1																	110300154		2203	4300	6503	SO:0001819	synonymous_variant	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.918G>A	1.37:g.110300154C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Silent	SNP	ENST00000361965.4	37	CCDS814.1																																																																																				0.557	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1		NM_024526	
FAM46C	54855	hgsc.bcm.edu;ucsc.edu	37	1	118166327	118166327	+	Silent	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:118166327G>T	ENST00000369448.3	+	2	1084	c.837G>T	c.(835-837)ccG>ccT	p.P279P		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	279										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		TCGACTTCCCGGACATCCTTG	0.498			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																														Rec	yes		1	1p12	54855	"""family with sequence similarity 46, member C"""		L	0													77.0	79.0	78.0					1																	118166327		2203	4300	6503	SO:0001819	synonymous_variant	54855			BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.837G>T	1.37:g.118166327G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A3KMG2|Q8NE25|Q9NXK0	Silent	SNP	ENST00000369448.3	37	CCDS896.1																																																																																				0.498	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1		NM_017709	
SUPT20HL1	100130302	hgsc.bcm.edu	37	X	24382644	24382644	+	IGR	SNP	C	C	T	rs370418088		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chrX:24382644C>T								AC004552.1 (15621 upstream) : PDK3 (100693 downstream)																							CCCAGCCCCCCACCAAATTCA	0.582																																																	0													21.0	20.0	21.0					X																	24382644		1568	3582	5150	SO:0001628	intergenic_variant	0																															X.37:g.24382644C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP		37																																																																																				0	0.582									
GAREM	64762	hgsc.bcm.edu;ucsc.edu	37	18	29867671	29867671	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr18:29867671A>T	ENST00000269209.6	-	4	892	c.889T>A	c.(889-891)Ttt>Att	p.F297I	GAREM_ENST00000399218.4_Missense_Mutation_p.F297I|GAREM_ENST00000578619.1_5'Flank|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	297	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TGCAAAGGAAAGTGCATGGGG	0.547																																																	0													119.0	99.0	106.0					18																	29867671		2203	4300	6503	SO:0001583	missense	0			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.889T>A	18.37:g.29867671A>T	ENSP00000269209:p.Phe297Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	ENST00000269209.6	37	CCDS56057.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736248	0.89482	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.10099	2.91;2.91	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.03662	-1.1015	10	0.72032	D	0.01	-27.2895	16.1512	0.81624	1.0:0.0:0.0:0.0	.	297;297	Q9H706;Q9H706-3	FA59A_HUMAN;.	I	297	ENSP00000382165:F297I;ENSP00000269209:F297I	ENSP00000269209:F297I	F	-	1	0	FAM59A	28121669	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.851000	0.92205	2.275000	0.75901	0.459000	0.35465	TTT		0.547	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1		NM_022751	
FAM91A1	157769	hgsc.bcm.edu;ucsc.edu	37	8	124799957	124799957	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr8:124799957G>C	ENST00000334705.7	+	14	1491	c.1245G>C	c.(1243-1245)gaG>gaC	p.E415D	FAM91A1_ENST00000521166.1_Missense_Mutation_p.E415D	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	415										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCTCAGATGAGTCTCTGGACA	0.363																																																	0													100.0	94.0	96.0					8																	124799957		1846	4100	5946	SO:0001583	missense	157769			AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.1245G>C	8.37:g.124799957G>C	ENSP00000335082:p.Glu415Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420984	0.83559	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.57107	0.42;0.42	5.57	2.31	0.28768	.	0.000000	0.85682	D	0.000000	T	0.67739	0.2925	M	0.73753	2.245	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.73380	0.98;0.98	T	0.67921	-0.5545	10	0.48119	T	0.1	.	10.6554	0.45671	0.2599:0.0:0.7401:0.0	.	415;415	E7ER68;Q658Y4	.;F91A1_HUMAN	D	415	ENSP00000429491:E415D;ENSP00000335082:E415D	ENSP00000335082:E415D	E	+	3	2	FAM91A1	124869138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.844000	0.39269	0.829000	0.34733	0.655000	0.94253	GAG		0.363	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1		NM_144963	
FAT1	2195	hgsc.bcm.edu;ucsc.edu	37	4	187539377	187539377	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:187539377T>G	ENST00000441802.2	-	10	8572	c.8363A>C	c.(8362-8364)gAg>gCg	p.E2788A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2788	Cadherin 25. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCCACCATCTCATGGTCATC	0.438										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													205.0	202.0	203.0					4																	187539377		1974	4164	6138	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.8363A>C	4.37:g.187539377T>G	ENSP00000406229:p.Glu2788Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273885	0.23221	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.50001	0.76	5.0	5.0	0.66597	Cadherin (4);Cadherin-like (1);	0.275863	0.41097	D	0.000959	T	0.41442	0.1159	L	0.35593	1.075	0.50039	D	0.999848	P	0.46512	0.879	P	0.46796	0.527	T	0.15206	-1.0445	10	0.09590	T	0.72	.	15.1541	0.72726	0.0:0.0:0.0:1.0	.	2788	Q14517	FAT1_HUMAN	A	2788;2790	ENSP00000406229:E2788A	ENSP00000260147:E2790A	E	-	2	0	FAT1	187776371	0.999000	0.42202	0.976000	0.42696	0.019000	0.09904	5.022000	0.64078	2.225000	0.72522	0.533000	0.62120	GAG		0.438	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245	
FBXL3	26224	hgsc.bcm.edu;ucsc.edu	37	13	77595752	77595752	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr13:77595752C>G	ENST00000355619.5	-	2	568	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	FBXL3_ENST00000477982.1_5'Flank	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	82					entrainment of circadian clock by photoperiod (GO:0043153)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TGATTCAGTTCAAATTCAAAA	0.398																																																	0													80.0	76.0	77.0					13																	77595752		2203	4300	6503	SO:0001583	missense	26224			AF129532	CCDS9457.1	13q22	2011-06-09	2004-07-20	2004-07-21	ENSG00000005812	ENSG00000005812		"""F-boxes / Leucine-rich repeats"""	13599	protein-coding gene	gene with protein product		605653	"""F-box and leucine-rich repeat protein 3A"""	FBXL3A		10531035, 10828603	Standard	NM_012158		Approved	FBL3, FBL3A	uc001vkd.3	Q9UKT7	OTTHUMG00000017099	ENST00000355619.5:c.244G>C	13.37:g.77595752C>G	ENSP00000347834:p.Glu82Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2RB04|Q9P122	Missense_Mutation	SNP	ENST00000355619.5	37	CCDS9457.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949229	0.92660	.	.	ENSG00000005812	ENST00000355619	T	0.21191	2.02	5.87	5.87	0.94306	F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	M	0.64997	1.995	0.80722	D	1	P	0.51791	0.948	P	0.49528	0.614	T	0.01030	-1.1475	10	0.27785	T	0.31	-20.6918	20.1935	0.98237	0.0:1.0:0.0:0.0	.	82	Q9UKT7	FBXL3_HUMAN	Q	82	ENSP00000347834:E82Q	ENSP00000347834:E82Q	E	-	1	0	FBXL3	76493753	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.779000	0.95612	0.591000	0.81541	GAA		0.398	FBXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045312.3			
GABPB2	126626	hgsc.bcm.edu;ucsc.edu	37	1	151079598	151079598	+	Silent	SNP	C	C	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:151079598C>G	ENST00000368918.3	+	7	1153	c.822C>G	c.(820-822)acC>acG	p.T274T	GABPB2_ENST00000368917.1_Silent_p.T236T|GABPB2_ENST00000368916.1_Silent_p.T236T|GABPB2_ENST00000467551.1_3'UTR	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	274					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GGGTCATCACCATAGTGACTG	0.453																																																	0													86.0	83.0	84.0					1																	151079598		2203	4300	6503	SO:0001819	synonymous_variant	126626				CCDS983.1	1q21.2	2013-01-10			ENSG00000143458	ENSG00000143458		"""Ankyrin repeat domain containing"""	28441	protein-coding gene	gene with protein product						7958862	Standard	NM_144618		Approved	MGC29891	uc001ewr.2	Q8TAK5	OTTHUMG00000012193	ENST00000368918.3:c.822C>G	1.37:g.151079598C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B1AVJ8|D3DV14|Q8NAR5	Silent	SNP	ENST00000368918.3	37	CCDS983.1																																																																																				0.453	GABPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033700.2		NM_144618	
GLG1	2734	hgsc.bcm.edu;ucsc.edu	37	16	74506300	74506300	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr16:74506300delT	ENST00000422840.2	-	14	2061	c.2062delA	c.(2062-2064)atafs	p.I688fs	GLG1_ENST00000447066.2_Frame_Shift_Del_p.I677fs|GLG1_ENST00000205061.5_Frame_Shift_Del_p.I688fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	688					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						AAGGCTTCTATTTGAATATCC	0.388																																																	0													79.0	76.0	77.0					16																	74506300		2198	4300	6498	SO:0001589	frameshift_variant	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2062delA	16.37:g.74506300delT	ENSP00000405984:p.Ile688fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Frame_Shift_Del	DEL	ENST00000422840.2	37	CCDS45527.1																																																																																				0.388	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1		NM_012201	
GNA13	10672	hgsc.bcm.edu;ucsc.edu	37	17	63010742	63010742	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr17:63010742A>T	ENST00000439174.2	-	4	1012	c.767T>A	c.(766-768)cTt>cAt	p.L256H	GNA13_ENST00000541118.1_Missense_Mutation_p.L161H	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	256					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						ATCTTCCATAAGCACCTGGTC	0.408																																																	0													111.0	102.0	105.0					17																	63010742		2203	4300	6503	SO:0001583	missense	10672			L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.767T>A	17.37:g.63010742A>T	ENSP00000400717:p.Leu256His	Somatic		WXS	Illumina HiSeq	Phase_I	B2R977|B7Z7R0|F5H1G8|Q8TD70	Missense_Mutation	SNP	ENST00000439174.2	37	CCDS11661.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595345	0.86953	.	.	ENSG00000120063	ENST00000439174;ENST00000541118;ENST00000239138	D;D	0.92099	-2.97;-2.97	6.14	6.14	0.99180	.	0.068257	0.64402	D	0.000003	D	0.97645	0.9228	H	0.97540	4.025	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98936	1.0789	10	0.87932	D	0	.	16.4674	0.84083	1.0:0.0:0.0:0.0	.	256	Q14344	GNA13_HUMAN	H	256;161;231	ENSP00000400717:L256H;ENSP00000439647:L161H	ENSP00000239138:L231H	L	-	2	0	GNA13	60441204	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	9.339000	0.96797	2.367000	0.80283	0.529000	0.55759	CTT		0.408	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1		NM_006572	
GNG11	2791	hgsc.bcm.edu;ucsc.edu	37	7	93551485	93551485	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:93551485G>C	ENST00000248564.5	+	1	475	c.36G>C	c.(34-36)aaG>aaC	p.K12N		NM_004126.3	NP_004117.1	P61952	GBG11_HUMAN	guanine nucleotide binding protein (G protein), gamma 11	12					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|kidney(1)|lung(2)|skin(1)	6	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TGCCAGAGAAGGAAAAACTGA	0.512																																																	0													51.0	53.0	53.0					7																	93551485		2203	4300	6503	SO:0001583	missense	2791				CCDS5634.1	7q31-q32	2008-07-18			ENSG00000127920	ENSG00000127920			4403	protein-coding gene	gene with protein product	"""G protein gamma-11 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit"""	604390				7665596	Standard	NM_004126		Approved	GNGT11	uc003und.3	P61952	OTTHUMG00000023411	ENST00000248564.5:c.36G>C	7.37:g.93551485G>C	ENSP00000248564:p.Lys12Asn	Somatic		WXS	Illumina HiSeq	Phase_I	P50152	Missense_Mutation	SNP	ENST00000248564.5	37	CCDS5634.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858417	0.71834	.	.	ENSG00000127920	ENST00000248564	T	0.27890	1.64	4.48	3.6	0.41247	G-protein gamma domain (5);	0.107103	0.64402	D	0.000009	T	0.48370	0.1496	.	.	.	0.44728	D	0.99772	D	0.89917	1.0	D	0.74348	0.983	T	0.39722	-0.9600	9	0.30854	T	0.27	-18.5867	10.488	0.44733	0.0961:0.0:0.9039:0.0	.	12	P61952	GBG11_HUMAN	N	12	ENSP00000248564:K12N	ENSP00000248564:K12N	K	+	3	2	GNG11	93389421	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.176000	0.50863	1.250000	0.43966	0.491000	0.48974	AAG		0.512	GNG11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254719.3		NM_004126	
GPR144	347088	hgsc.bcm.edu;ucsc.edu	37	9	127214928	127214928	+	Silent	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr9:127214928T>A	ENST00000334810.1	+	3	264	c.264T>A	c.(262-264)gtT>gtA	p.V88V				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	88					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)			central_nervous_system(1)|endometrium(3)	4						CTGATGGGGTTCTTGCTTCAC	0.647																																																	0													39.0	43.0	42.0					9																	127214928		692	1591	2283	SO:0001819	synonymous_variant	347088			AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.264T>A	9.37:g.127214928T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q86SL4|Q8NH12	Silent	SNP	ENST00000334810.1	37	CCDS48016.1																																																																																				0.647	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054026.2		NM_182611	
GPR179	440435	hgsc.bcm.edu;ucsc.edu	37	17	36495345	36495345	+	Silent	SNP	T	T	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr17:36495345T>G	ENST00000342292.4	-	2	878	c.858A>C	c.(856-858)ccA>ccC	p.P286P		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	286					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)				AGTACCAGCCTGGGCCACTTG	0.552																																																	0													116.0	118.0	118.0					17																	36495345		2131	4222	6353	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.858A>C	17.37:g.36495345T>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000342292.4	37	CCDS42308.1																																																																																				0.552	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			
HCK	3055	hgsc.bcm.edu;ucsc.edu	37	20	30676371	30676371	+	Splice_Site	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr20:30676371G>A	ENST00000520553.1	+	10	1199	c.953G>A	c.(952-954)gGa>gAa	p.G318E	HCK_ENST00000375862.2_Splice_Site_p.G338E|HCK_ENST00000375852.2_Splice_Site_p.G339E|HCK_ENST00000534862.1_Splice_Site_p.G319E|HCK_ENST00000538448.1_Splice_Site_p.G318E|HCK_ENST00000518730.1_Splice_Site_p.G317E	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	339	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.G339E(1)|p.G318E(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CCCCATATAGGAAGCTTGCTG	0.443																																																	2	Substitution - Missense(2)	lung(2)											63.0	65.0	64.0					20																	30676371		2203	4300	6503	SO:0001630	splice_region_variant	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.953-1G>A	20.37:g.30676371G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	ENST00000520553.1	37	CCDS54455.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326407	0.81690	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95993	0.8695	H	0.94423	3.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	D	0.97114	0.9806	9	.	.	.	.	16.6731	0.85271	0.0:0.0:1.0:0.0	.	317;339	P08631-3;P08631	.;HCK_HUMAN	E	319;318;338;318;317;339	ENSP00000444986:G319E;ENSP00000441169:G318E;ENSP00000365022:G338E;ENSP00000429848:G318E;ENSP00000427757:G317E;ENSP00000365012:G339E	.	G	+	2	0	HCK	30140032	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	9.256000	0.95535	2.505000	0.84491	0.549000	0.68633	GGA		0.443	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000375751.1			Missense_Mutation
HEPN1	641654	hgsc.bcm.edu;ucsc.edu	37	11	124792312	124792312	+	IGR	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:124792312G>A	ENST00000408930.5	+	0	1428				HEPACAM_ENST00000298251.4_Missense_Mutation_p.P307L	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1							cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GAGTGCCATGGGGTTCTTCCG	0.612																																																	0													188.0	178.0	181.0					11																	124792312		2201	4299	6500	SO:0001628	intergenic_variant	220296			BC148521	CCDS41729.1	11q24	2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932			34400	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	611641	"""HEPACAM opposite strand 1"""			12971969, 23548416	Standard	NM_001037558		Approved		uc001qbj.1	Q6WQI6	OTTHUMG00000165939		11.37:g.124792312G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000408930.5	37	CCDS41729.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710723	0.89112	.	.	ENSG00000165478	ENST00000298251	T	0.57273	0.41	5.8	5.8	0.92144	.	0.150661	0.64402	D	0.000011	T	0.61912	0.2385	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	P	0.59643	0.861	T	0.63906	-0.6531	10	0.87932	D	0	-33.4809	19.6581	0.95851	0.0:0.0:1.0:0.0	.	307	Q14CZ8	HECAM_HUMAN	L	307	ENSP00000298251:P307L	ENSP00000298251:P307L	P	-	2	0	HEPACAM	124297522	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.432000	0.80349	2.735000	0.93741	0.655000	0.94253	CCC		0.612	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1		NM_001037558	
HNF1B	6928	hgsc.bcm.edu	37	17	36104840	36104840	+	Silent	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr17:36104840G>T	ENST00000225893.4	-	1	397	c.36C>A	c.(34-36)ctC>ctA	p.L12L	HNF1B_ENST00000560016.1_Silent_p.L12L|RP11-115K3.1_ENST00000558143.1_RNA|HNF1B_ENST00000427275.2_Silent_p.L12L|HNF1B_ENST00000561193.1_Silent_p.L12L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	12	Dimerization. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GGGCGCTCAGGAGTTCTTGCT	0.627																																					Colon(71;102 1179 9001 27917 43397)												0													40.0	42.0	41.0					17																	36104840		2203	4300	6503	SO:0001819	synonymous_variant	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.36C>A	17.37:g.36104840G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	CCDS11324.1																																																																																				0.627	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3		NM_000458	
IFIT1	3434	hgsc.bcm.edu;ucsc.edu	37	10	91162803	91162803	+	Silent	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr10:91162803A>T	ENST00000371804.3	+	2	938	c.771A>T	c.(769-771)gcA>gcT	p.A257A	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Silent_p.A226A	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	257	Interaction with the 5'-triphosphate group of PPP-RNA. {ECO:0000250}.				cellular response to exogenous dsRNA (GO:0071360)|cellular response to type I interferon (GO:0071357)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|intracellular transport of viral protein in host cell (GO:0019060)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of helicase activity (GO:0051097)|negative regulation of protein binding (GO:0032091)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						TTCGATATGCAGCCAAGTTTT	0.443																																																	0													117.0	119.0	119.0					10																	91162803		2203	4300	6503	SO:0001819	synonymous_variant	3434			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745		"""Tetratricopeptide (TTC) repeat domain containing"""	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1		1377167, 3360121	Standard	NM_001548		Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.771A>T	10.37:g.91162803A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KS50|D3DR31|Q5T7J1|Q96QM5	Silent	SNP	ENST00000371804.3	37	CCDS31243.1																																																																																				0.443	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049302.1		NM_001548	
IL17A	3605	hgsc.bcm.edu;ucsc.edu	37	6	52054066	52054066	+	Silent	SNP	C	C	A	rs201642273		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:52054066C>A	ENST00000340057.1	+	3	489	c.444C>A	c.(442-444)acC>acA	p.T148T		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	148					apoptotic process (GO:0006915)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|fibroblast activation (GO:0072537)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein glycosylation (GO:0006486)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCTGTGTCACCCCGATTGTCC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17560	0.0		0.0	False		,,,				2504	0.0																0													65.0	58.0	60.0					6																	52054066		2203	4300	6503	SO:0001819	synonymous_variant	3605			U32659	CCDS4937.1	6p12	2011-07-14	2006-04-26	2006-04-26	ENSG00000112115	ENSG00000112115		"""Interleukins and interleukin receptors"""	5981	protein-coding gene	gene with protein product	"""cytotoxic T-lymphocyte-associated protein 8"""	603149	"""interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8)"""	CTLA8, IL17		8390535	Standard	NM_002190		Approved	IL-17A, IL-17	uc003pak.1	Q16552	OTTHUMG00000014840	ENST00000340057.1:c.444C>A	6.37:g.52054066C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T2P0	Silent	SNP	ENST00000340057.1	37	CCDS4937.1																																																																																				0.612	IL17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040892.1		NM_002190	
IQUB	154865	hgsc.bcm.edu;ucsc.edu	37	7	123143012	123143012	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr7:123143012A>G	ENST00000466202.1	-	5	1429	c.853T>C	c.(853-855)Tgt>Cgt	p.C285R	IQUB_ENST00000434450.1_Missense_Mutation_p.C285R|IQUB_ENST00000324698.6_Missense_Mutation_p.C285R|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	285					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GTATCCCTACAAAATATACTG	0.343																																																	0													112.0	110.0	110.0					7																	123143012		2203	4300	6503	SO:0001583	missense	154865			AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.853T>C	7.37:g.123143012A>G	ENSP00000417769:p.Cys285Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728289	0.48833	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.45668	1.92;1.92;0.89	5.45	4.26	0.50523	.	0.184267	0.47852	D	0.000213	T	0.53530	0.1802	M	0.76574	2.34	0.50467	D	0.999879	P;P	0.50272	0.933;0.89	P;P	0.51385	0.668;0.467	T	0.57573	-0.7788	10	0.62326	D	0.03	.	11.9064	0.52715	0.8694:0.0:0.0:0.1306	.	285;285	Q8NA54-2;Q8NA54	.;IQUB_HUMAN	R	285	ENSP00000417769:C285R;ENSP00000324882:C285R;ENSP00000388498:C285R	ENSP00000324882:C285R	C	-	1	0	IQUB	122930248	0.986000	0.35501	1.000000	0.80357	0.773000	0.43773	1.919000	0.40015	0.965000	0.38133	0.533000	0.62120	TGT		0.343	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1		NM_178827	
KIF13B	23303	hgsc.bcm.edu;ucsc.edu	37	8	28976473	28976473	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr8:28976473delG	ENST00000524189.1	-	30	3610	c.3572delC	c.(3571-3573)ccafs	p.P1191fs	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1191					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCAGCTTCTGGGTCATCAAG	0.438																																																	0													134.0	133.0	133.0					8																	28976473		1912	4133	6045	SO:0001589	frameshift_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3572delC	8.37:g.28976473delG	ENSP00000427900:p.Pro1191fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Frame_Shift_Del	DEL	ENST00000524189.1	37	CCDS55217.1																																																																																				0.438	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			
KIF1A	547	hgsc.bcm.edu;ucsc.edu	37	2	241725926	241725926	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:241725926C>A	ENST00000320389.7	-	6	592	c.434G>T	c.(433-435)aGc>aTc	p.S145I	KIF1A_ENST00000498729.2_Missense_Mutation_p.S145I	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	145	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCATGTAGCTGACCTGCAG	0.642																																																	0													79.0	83.0	82.0					2																	241725926		2036	4196	6232	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.434G>T	2.37:g.241725926C>A	ENSP00000322791:p.Ser145Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.781532	0.90282	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.91996	-2.95;-2.95;-2.95	4.55	4.55	0.56014	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.97974	0.9333	H	0.99211	4.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99891	1.1134	10	0.87932	D	0	.	17.3339	0.87274	0.0:1.0:0.0:0.0	.	145;145;145	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	I	145	ENSP00000322791:S145I;ENSP00000438388:S145I;ENSP00000384231:S145I	ENSP00000322791:S145I	S	-	2	0	KIF1A	241374599	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.565000	0.82337	2.087000	0.62958	0.643000	0.83706	AGC		0.642	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3		NM_138483	
KLHL9	55958	hgsc.bcm.edu;ucsc.edu	37	9	21334022	21334022	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr9:21334022C>T	ENST00000359039.4	-	1	1357	c.837G>A	c.(835-837)atG>atA	p.M279I	KLHL9_ENST00000537938.1_Missense_Mutation_p.M211I			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	279					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCATATATGGCATCATTTGGT	0.443																																																	0													149.0	135.0	140.0					9																	21334022		2203	4300	6503	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.837G>A	9.37:g.21334022C>T	ENSP00000351933:p.Met279Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCQ2	Missense_Mutation	SNP	ENST00000359039.4	37	CCDS6503.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058815	0.36277	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.70631	-0.46;-0.5	5.37	5.37	0.77165	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.73110	0.3545	M	0.73962	2.25	0.58432	D	0.999999	B	0.26635	0.155	B	0.28991	0.097	T	0.72754	-0.4198	10	0.56958	D	0.05	.	16.9779	0.86319	0.0:1.0:0.0:0.0	.	279	Q9P2J3	KLHL9_HUMAN	I	279;211	ENSP00000351933:M279I;ENSP00000437733:M211I	ENSP00000351933:M279I	M	-	3	0	KLHL9	21324022	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.739000	0.84976	2.688000	0.91661	0.650000	0.86243	ATG		0.443	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2		NM_018847	
LTBP2	4053	hgsc.bcm.edu	37	14	75052560	75052560	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr14:75052560G>A	ENST00000261978.4	-	3	1213	c.827C>T	c.(826-828)gCt>gTt	p.A276V	LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.A276V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	276					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACTTACCCAGCTGGTGGCGA	0.637																																																	0													45.0	58.0	54.0					14																	75052560		2203	4300	6503	SO:0001583	missense	4053				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.827C>T	14.37:g.75052560G>A	ENSP00000261978:p.Ala276Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	G	5.817	0.335036	0.11013	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.77358	-1.08;-1.09	5.41	3.56	0.40772	.	.	.	.	.	T	0.56863	0.2014	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38866	-0.9641	9	0.17369	T	0.5	.	10.4562	0.44553	0.1562:0.0:0.8438:0.0	.	276	Q14767	LTBP2_HUMAN	V	276	ENSP00000261978:A276V;ENSP00000451477:A276V	ENSP00000261978:A276V	A	-	2	0	LTBP2	74122313	0.992000	0.36948	0.006000	0.13384	0.067000	0.16453	5.030000	0.64128	1.274000	0.44362	0.563000	0.77884	GCT		0.637	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428	
MANSC1	54682	hgsc.bcm.edu;ucsc.edu	37	12	12483181	12483181	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:12483181C>T	ENST00000535902.1	-	4	1639	c.1076G>A	c.(1075-1077)gGt>gAt	p.G359D	MANSC1_ENST00000545735.1_Missense_Mutation_p.G278D|MANSC1_ENST00000396349.3_Missense_Mutation_p.G325D			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	359						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		GGCCTCCCTACCTTCCCAGGA	0.468																																																	0													91.0	92.0	92.0					12																	12483181		2203	4300	6503	SO:0001583	missense	54682			AK001160	CCDS8648.1	12p13.2	2006-04-12				ENSG00000111261			25505	protein-coding gene	gene with protein product						12975309	Standard	NM_018050		Approved	FLJ10298, LOH12CR3	uc001rai.1	Q9H8J5		ENST00000535902.1:c.1076G>A	12.37:g.12483181C>T	ENSP00000438205:p.Gly359Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NEC1|Q9NW60	Missense_Mutation	SNP	ENST00000535902.1	37	CCDS8648.1	.	.	.	.	.	.	.	.	.	.	C	6.925	0.540325	0.13250	.	.	ENSG00000111261	ENST00000535902;ENST00000396349;ENST00000355566;ENST00000545735	T;T;T	0.20881	2.36;2.35;2.04	5.02	-5.51	0.02568	.	1.452060	0.04765	N	0.426970	T	0.04363	0.0120	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33163	-0.9879	10	0.06757	T	0.87	-2.7726	2.0261	0.03519	0.2627:0.0906:0.4005:0.2461	.	293;325;359	B4DQ82;Q9NW60;Q9H8J5	.;.;MANS1_HUMAN	D	359;325;278;278	ENSP00000438205:G359D;ENSP00000379638:G325D;ENSP00000445303:G278D	ENSP00000347765:G278D	G	-	2	0	MANSC1	12374448	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.032000	0.13732	-0.375000	0.07955	-0.339000	0.08088	GGT		0.468	MANSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400144.1		NM_018050	
MRGPRX3	117195	hgsc.bcm.edu;ucsc.edu	37	11	18159153	18159153	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:18159153C>T	ENST00000396275.2	+	3	765	c.404C>T	c.(403-405)cCc>cTc	p.P135L		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGCCGCCGCCCCAGATACCTG	0.572																																																	0													122.0	113.0	116.0					11																	18159153		2200	4293	6493	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.404C>T	11.37:g.18159153C>T	ENSP00000379571:p.Pro135Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.398478	0.25205	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.37235	1.21;1.21	1.46	0.423	0.16463	GPCR, rhodopsin-like superfamily (1);	0.090132	0.49305	D	0.000158	T	0.56731	0.2005	M	0.90425	3.115	0.09310	N	1	D	0.63880	0.993	D	0.63381	0.914	T	0.48747	-0.9008	10	0.66056	D	0.02	.	6.5979	0.22685	0.2851:0.7148:0.0:0.0	.	135	Q96LB0	MRGX3_HUMAN	L	135	ENSP00000379571:P135L;ENSP00000436242:P135L	ENSP00000379571:P135L	P	+	2	0	MRGPRX3	18115729	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.160000	0.31761	0.136000	0.18733	-0.719000	0.03609	CCC		0.572	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1		NM_054031	
MUC4	4585	hgsc.bcm.edu	37	3	195507215	195507262	+	In_Frame_Del	DEL	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	-	rs553645209|rs74187968|rs375915811|rs201269328|rs569772156|rs199994331|rs200315207|rs201456607|rs567957149|rs370997210|rs535035384|rs367631576|rs532961620|rs537603063|rs199776180	byFrequency	TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	GAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr3:195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENST00000463781.3	-	2	11648_11695	c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	c.(11188-11238)catgtcaccagcccttcctcagcatccacaggtcacgtcacccctcttcct>cct	p.HVTSPSSASTGHVTPL3730del	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.HVTSPSSASTGHVTPL3730del|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H3741Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGTGACAGGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGT	0.577																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11189_11236delATGTCACCAGCCCTTCCTCAGCATCCACAGGTCACGTCACCCCTCTTC	3.37:g.195507215_195507262delGAAGAGGGGTGACGTGACCTGTGGATGCTGAGGAAGGGCTGGTGACAT	ENSP00000417498:p.His3730_Leu3745del	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYOZ1	58529	hgsc.bcm.edu	37	10	75393823	75393823	+	Splice_Site	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr10:75393823C>T	ENST00000359322.4	-	5	867	c.503G>A	c.(502-504)gGa>gAa	p.G168E	RP11-464F9.22_ENST00000609434.1_lincRNA	NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TGCCTGGTCTCCTGGTAGCCA	0.483																																																	0													37.0	35.0	36.0					10																	75393823		2203	4300	6503	SO:0001630	splice_region_variant	58529			AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.503-1G>A	10.37:g.75393823C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000359322.4	37	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.901370	0.72754	.	.	ENSG00000177791	ENST00000359322	T	0.65364	-0.15	6.17	5.23	0.72850	.	0.210963	0.49916	D	0.000135	T	0.46405	0.1391	L	0.28274	0.84	0.48975	D	0.999734	B	0.29936	0.262	B	0.34931	0.192	T	0.38351	-0.9665	10	0.02654	T	1	.	11.8612	0.52467	0.0:0.8435:0.0:0.1565	.	168	Q9NP98	MYOZ1_HUMAN	E	168	ENSP00000352272:G168E	ENSP00000352272:G168E	G	-	2	0	MYOZ1	75063829	0.987000	0.35691	1.000000	0.80357	0.987000	0.75469	0.929000	0.28844	1.515000	0.48885	0.655000	0.94253	GGA		0.483	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			Missense_Mutation
Unknown	0	hgsc.bcm.edu;ucsc.edu	37	2	73928331	73928331	+	IGR	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:73928331C>T								ALMS1P (15628 upstream) : TPRKB (28625 downstream)																							TCAGTAATCGCCGGAAGGTGG	0.612																																																	0													68.0	74.0	72.0					2																	73928331		2202	4300	6502	SO:0001628	intergenic_variant	51471																															2.37:g.73928331C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP		37																																																																																				0	0.612									
NEFH	4744	hgsc.bcm.edu	37	22	29885591	29885592	+	In_Frame_Ins	INS	-	-	CCTGAGAAGGCCAAGTCC	rs200984527|rs267607533		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr22:29885591_29885592insCCTGAGAAGGCCAAGTCC	ENST00000310624.6	+	4	1995_1996	c.1962_1963insCCTGAGAAGGCCAAGTCC	c.(1963-1965)cca>CCTGAGAAGGCCAAGTCCcca	p.655_655P>PEKAKSP		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	661	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGCCAAGTCCCCAGAGAAGGA	0.559																																																	0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1945_1962dupCCTGAGAAGGCCAAGTCC	22.37:g.29885591_29885592insCCTGAGAAGGCCAAGTCC	ENSP00000311997:p.GluLysAlaLysSerPro655dup	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.559	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076	
NOTCH2	4853	hgsc.bcm.edu;ucsc.edu	37	1	120491750	120491750	+	Splice_Site	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:120491750C>A	ENST00000256646.2	-	16	2699		c.e16-1			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|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)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAATTCTTGCCTAGAAAGTAA	0.383			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													99.0	100.0	99.0					1																	120491750		2203	4300	6503	SO:0001630	splice_region_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.2480-1G>T	1.37:g.120491750C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T3X7|Q99734|Q9H240	Splice_Site	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135276	0.37728	.	.	ENSG00000134250	ENST00000256646	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8919	0.63744	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH2	120293273	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	6.933000	0.75874	2.754000	0.94517	0.585000	0.79938	.		0.383	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408	Intron
NOTCH3	4854	hgsc.bcm.edu	37	19	15289963	15289963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr19:15289963G>T	ENST00000263388.2	-	22	3666	c.3591C>A	c.(3589-3591)taC>taA	p.Y1197*		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1197	EGF-like 30; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCAAACCAGTGTATCCTGGGG	0.672																																																	0													37.0	40.0	39.0					19																	15289963		2203	4298	6501	SO:0001587	stop_gained	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3591C>A	19.37:g.15289963G>T	ENSP00000263388:p.Tyr1197*	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UEB3|Q9UPL3|Q9Y6L8	Nonsense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	G	42	9.400215	0.99159	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	.	.	.	3.9	1.74	0.24563	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	7.5877	0.28002	0.296:0.0:0.704:0.0	.	.	.	.	X	1197;1147	.	ENSP00000263388:Y1197X	Y	-	3	2	NOTCH3	15150963	1.000000	0.71417	0.676000	0.29932	0.936000	0.57629	2.505000	0.45424	0.175000	0.19841	-0.215000	0.12644	TAC		0.672	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1		NM_000435	
OR13G1	441933	hgsc.bcm.edu;ucsc.edu	37	1	247835536	247835536	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:247835536delC	ENST00000359688.2	-	1	829	c.808delG	c.(808-810)gtgfs	p.V271fs	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCAGCTACCACCTTGTCTCTT	0.458																																																	0													130.0	125.0	127.0					1																	247835536		2203	4300	6503	SO:0001589	frameshift_variant	441933			AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.808delG	1.37:g.247835536delC	ENSP00000352717:p.Val271fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN80|Q5T2T2|Q6IF86	Frame_Shift_Del	DEL	ENST00000359688.2	37	CCDS31094.1																																																																																				0.458	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1		NM_001005487	
OR8I2	120586	hgsc.bcm.edu	37	11	55860880	55860880	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:55860880T>G	ENST00000302124.2	+	1	128	c.97T>G	c.(97-99)Ttc>Gtc	p.F33V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GATGTTTCTCTTCATTTATCT	0.398																																																	0													200.0	194.0	196.0					11																	55860880		2201	4296	6497	SO:0001583	missense	120586			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.97T>G	11.37:g.55860880T>G	ENSP00000303864:p.Phe33Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	ENST00000302124.2	37	CCDS31517.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.766108	0.00082	.	.	ENSG00000172154	ENST00000302124	T	0.00420	7.47	4.5	2.06	0.26882	.	0.000000	0.42053	U	0.000776	T	0.00178	0.0005	N	0.05441	-0.05	0.09310	N	1	B	0.22346	0.068	B	0.20767	0.031	T	0.27905	-1.0060	10	0.16896	T	0.51	-20.6827	4.8832	0.13690	0.0:0.1785:0.16:0.6615	.	33	Q8N0Y5	OR8I2_HUMAN	V	33	ENSP00000303864:F33V	ENSP00000303864:F33V	F	+	1	0	OR8I2	55617456	0.000000	0.05858	0.018000	0.16275	0.009000	0.06853	-3.722000	0.00383	0.196000	0.20367	0.362000	0.22060	TTC		0.398	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001003750	
PCDH18	54510	hgsc.bcm.edu;ucsc.edu	37	4	138452585	138452585	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:138452585C>T	ENST00000344876.4	-	1	1044	c.658G>A	c.(658-660)Gac>Aac	p.D220N	PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.D220N	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	220	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACTCCCATGTCTGAGGCAGTG	0.468																																																	0													69.0	69.0	69.0					4																	138452585		2203	4300	6503	SO:0001583	missense	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.658G>A	4.37:g.138452585C>T	ENSP00000355082:p.Asp220Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683814	0.88639	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.65364	-0.15;-0.15	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.43110	U	0.000613	D	0.87561	0.6208	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.91443	0.5175	10	0.87932	D	0	.	19.851	0.96740	0.0:1.0:0.0:0.0	.	220;220	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	N	220	ENSP00000355082:D220N;ENSP00000390688:D220N	ENSP00000355082:D220N	D	-	1	0	PCDH18	138672035	1.000000	0.71417	0.954000	0.39281	0.921000	0.55340	7.770000	0.85390	2.687000	0.91594	0.557000	0.71058	GAC		0.468	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1		NM_019035	
PCDHB4	56131	hgsc.bcm.edu	37	5	140502934	140502934	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:140502934C>A	ENST00000194152.1	+	1	1354	c.1354C>A	c.(1354-1356)Caa>Aaa	p.Q452K	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	452					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCTTCACCCAAACCTCCTA	0.617																																																	0													83.0	81.0	81.0					5																	140502934		2203	4297	6500	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.1354C>A	5.37:g.140502934C>A	ENSP00000194152:p.Gln452Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	5.874	0.345378	0.11126	.	.	ENSG00000081818	ENST00000194152	T	0.61627	0.09	3.97	3.97	0.46021	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44095	0.1277	N	0.21373	0.66	0.09310	N	1	P	0.40875	0.731	B	0.39119	0.291	T	0.39035	-0.9633	9	0.72032	D	0.01	.	10.7088	0.45971	0.3192:0.6807:0.0:0.0	.	452	Q9Y5E5	PCDB4_HUMAN	K	452	ENSP00000194152:Q452K	ENSP00000194152:Q452K	Q	+	1	0	PCDHB4	140483118	0.006000	0.16342	0.145000	0.22337	0.026000	0.11368	0.575000	0.23729	2.238000	0.73509	0.558000	0.71614	CAA		0.617	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2		NM_018938	
PGBD2	267002	hgsc.bcm.edu;ucsc.edu	37	1	249212354	249212354	+	Missense_Mutation	SNP	A	A	C	rs368710878		TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:249212354A>C	ENST00000329291.5	+	3	1718	c.1571A>C	c.(1570-1572)tAt>tCt	p.Y524S	PGBD2_ENST00000355360.4_Missense_Mutation_p.Y273S|PGBD2_ENST00000539153.1_Missense_Mutation_p.Y521S	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	524										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCTGTGTGTATCTGGAGAGC	0.527																																																	0													108.0	96.0	100.0					1																	249212354		2203	4300	6503	SO:0001583	missense	267002			AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1571A>C	1.37:g.249212354A>C	ENSP00000331643:p.Tyr524Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	.	8.496	0.863085	0.17250	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.14266	2.52;2.7;2.7	3.05	3.05	0.35203	.	0.278346	0.24649	N	0.036725	T	0.19525	0.0469	N	0.22421	0.69	0.28385	N	0.919342	D;D	0.89917	1.0;0.999	D;D	0.83275	0.992;0.996	T	0.01420	-1.1359	10	0.51188	T	0.08	.	7.8936	0.29693	1.0:0.0:0.0:0.0	.	521;524	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	S	273;524;521	ENSP00000355424:Y273S;ENSP00000331643:Y524S;ENSP00000439950:Y521S	ENSP00000331643:Y524S	Y	+	2	0	PGBD2	247178977	0.999000	0.42202	0.970000	0.41538	0.114000	0.19823	1.957000	0.40392	1.627000	0.50400	0.383000	0.25322	TAT		0.527	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			
PIKFYVE	200576	hgsc.bcm.edu;ucsc.edu	37	2	209136347	209136347	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:209136347C>A	ENST00000264380.4	+	2	262	c.104C>A	c.(103-105)cCt>cAt	p.P35H	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.P35H|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.P35H|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.P35H	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	35					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CCTTTGACTCCTGATCAAGAT	0.388																																																	0													196.0	186.0	189.0					2																	209136347		2203	4300	6503	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.104C>A	2.37:g.209136347C>A	ENSP00000264380:p.Pro35His	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235666	0.79800	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000422495;ENST00000452564	T;T;T;T	0.80994	0.27;-1.44;-1.21;0.24	5.23	4.35	0.52113	.	0.066249	0.64402	D	0.000009	T	0.82061	0.4955	N	0.24115	0.695	0.30782	N	0.741867	D;D;D;P;D	0.89917	1.0;0.998;0.979;0.881;0.979	D;P;P;B;P	0.87578	0.998;0.819;0.627;0.424;0.627	T	0.81673	-0.0826	10	0.72032	D	0.01	-8.9614	12.0831	0.53682	0.0:0.9198:0.0:0.0802	.	35;35;35;35;35	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	H	35	ENSP00000264380:P35H;ENSP00000384356:P35H;ENSP00000414477:P35H;ENSP00000405736:P35H	ENSP00000264380:P35H	P	+	2	0	PIKFYVE	208844592	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.526000	0.81920	1.217000	0.43442	0.655000	0.94253	CCT		0.388	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040	
PLD3	23646	hgsc.bcm.edu;ucsc.edu	37	19	40876046	40876046	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr19:40876046A>T	ENST00000409587.1	+	8	977	c.580A>T	c.(580-582)Aag>Tag	p.K194*	PLD3_ENST00000409735.4_Nonsense_Mutation_p.K194*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.K194*|PLD3_ENST00000356508.5_Nonsense_Mutation_p.K194*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.K194*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	194					cell death (GO:0008219)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phospholipase D activity (GO:0004630)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGACATGCAGAAGCTGACCCA	0.637																																																	0													84.0	65.0	72.0					19																	40876046		2203	4300	6503	SO:0001587	stop_gained	23646			BC000553	CCDS33027.1	19q13.2	2014-03-14	2005-05-20		ENSG00000105223	ENSG00000105223			17158	protein-coding gene	gene with protein product		615698	"""phospholipase D3"""			9140189, 15794758	Standard	XM_005258704		Approved	HU-K4	uc002onj.4	Q8IV08	OTTHUMG00000152736	ENST00000409587.1:c.580A>T	19.37:g.40876046A>T	ENSP00000387050:p.Lys194*	Somatic		WXS	Illumina HiSeq	Phase_I	Q92853|Q9BW87	Nonsense_Mutation	SNP	ENST00000409587.1	37	CCDS33027.1	.	.	.	.	.	.	.	.	.	.	A	39	7.633771	0.98403	.	.	ENSG00000105223	ENST00000409419;ENST00000409587;ENST00000356508;ENST00000536031;ENST00000409735;ENST00000409281	.	.	.	5.71	4.63	0.57726	.	0.242758	0.40728	N	0.001033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.4839	10.6882	0.45856	0.8399:0.1601:0.0:0.0	.	.	.	.	X	194;194;194;175;194;194	.	ENSP00000348901:K194X	K	+	1	0	PLD3	45567886	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.256000	0.43231	2.165000	0.68154	0.533000	0.62120	AAG		0.637	PLD3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327721.1		NM_012268	
POLR1B	84172	hgsc.bcm.edu;ucsc.edu	37	2	113316975	113316975	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:113316975C>T	ENST00000263331.5	+	9	2016	c.1436C>T	c.(1435-1437)gCc>gTc	p.A479V	POLR1B_ENST00000417433.2_Missense_Mutation_p.A423V|POLR1B_ENST00000537335.1_Missense_Mutation_p.A268V|POLR1B_ENST00000541869.1_Missense_Mutation_p.A517V|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	479					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GCTGATTTTGCCAAGATGAGG	0.572																																					Ovarian(16;256 576 9537 23969 41147)												0													125.0	122.0	123.0					2																	113316975		2203	4300	6503	SO:0001583	missense	84172			AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.1436C>T	2.37:g.113316975C>T	ENSP00000263331:p.Ala479Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	C	35	5.578513	0.96565	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000537335;ENST00000417433	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.85	5.85	0.93711	RNA polymerase Rpb2, domain 3 (1);	0.000000	0.85682	D	0.000000	D	0.88976	0.6584	M	0.91196	3.185	0.80722	D	1	D;P;D	0.64830	0.994;0.939;0.972	D;P;P	0.64776	0.929;0.461;0.844	D	0.89337	0.3651	10	0.44086	T	0.13	-25.8989	12.9731	0.58524	0.0:0.9227:0.0:0.0773	.	517;423;479	F5GZX4;Q9H9Y6-2;Q9H9Y6	.;.;RPA2_HUMAN	V	479;517;268;423	ENSP00000263331:A479V;ENSP00000444136:A517V;ENSP00000437914:A268V;ENSP00000405358:A423V	ENSP00000263331:A479V	A	+	2	0	POLR1B	113033446	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.727000	0.68523	2.771000	0.95319	0.561000	0.74099	GCC		0.572	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1		NM_019014	
PRIM1	5557	hgsc.bcm.edu;ucsc.edu	37	12	57137871	57137871	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:57137871C>T	ENST00000338193.6	-	6	652	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K	PRIM1_ENST00000552408.1_5'Flank	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	206					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			kidney(1)|lung(6)|prostate(1)	8						TGAATTTTTTCACTTAGGTGA	0.353																																																	0													78.0	72.0	74.0					12																	57137871		1813	4067	5880	SO:0001583	missense	5557			BC005266	CCDS44926.1	12q13.3	2007-06-19	2007-06-19			ENSG00000198056			9369	protein-coding gene	gene with protein product		176635				8530050	Standard	NM_000946		Approved		uc001smd.3	P49642	OTTHUMG00000170034	ENST00000338193.6:c.616G>A	12.37:g.57137871C>T	ENSP00000350491:p.Glu206Lys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000338193.6	37	CCDS44926.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253674	0.80135	.	.	ENSG00000198056	ENST00000537418;ENST00000338193;ENST00000550770	T;T	0.41400	1.01;1.0	5.09	5.09	0.68999	.	0.049145	0.85682	D	0.000000	T	0.29882	0.0747	N	0.21282	0.65	0.49389	D	0.999782	B	0.14438	0.01	B	0.23018	0.043	T	0.09596	-1.0667	10	0.06625	T	0.88	-27.6743	18.2069	0.89858	0.0:1.0:0.0:0.0	.	206	P49642	PRI1_HUMAN	K	207;206;209	ENSP00000350491:E206K;ENSP00000450185:E209K	ENSP00000350491:E206K	E	-	1	0	PRIM1	55424138	0.995000	0.38212	1.000000	0.80357	0.984000	0.73092	2.879000	0.48522	2.773000	0.95371	0.650000	0.86243	GAA		0.353	PRIM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406956.1		NM_000946	
PRPSAP1	5635	hgsc.bcm.edu;ucsc.edu	37	17	74308958	74308958	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr17:74308958A>G	ENST00000446526.3	-	9	1437	c.992T>C	c.(991-993)gTa>gCa	p.V331A	PRPSAP1_ENST00000588364.1_5'UTR|PRPSAP1_ENST00000324684.4_Missense_Mutation_p.V228A	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	302					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						GACCTCGTCTACGGAGGACTC	0.468																																																	0													70.0	75.0	74.0					17																	74308958		2203	4300	6503	SO:0001583	missense	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.992T>C	17.37:g.74308958A>G	ENSP00000414624:p.Val331Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	A	14.39	2.520987	0.44866	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555	T;T;T	0.73789	-0.78;-0.78;-0.78	5.83	5.83	0.93111	.	0.099297	0.64402	D	0.000003	T	0.61702	0.2368	N	0.11724	0.165	0.36926	D	0.891622	B;B	0.27594	0.007;0.182	B;B	0.28991	0.005;0.097	T	0.67624	-0.5623	10	0.87932	D	0	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	302;331	Q14558;Q14558-2	KPRA_HUMAN;.	A	331;228;228	ENSP00000414624:V331A;ENSP00000314973:V228A;ENSP00000392838:V228A	ENSP00000314973:V228A	V	-	2	0	PRPSAP1	71820553	1.000000	0.71417	0.299000	0.25016	0.053000	0.15095	9.339000	0.96797	2.225000	0.72522	0.533000	0.62120	GTA		0.468	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2		NM_002766	
PRR25	388199	hgsc.bcm.edu	37	16	863356	863372	+	Frame_Shift_Del	DEL	GGACGCCGGACCGACAC	GGACGCCGGACCGACAC	-	rs367751056|rs199580467|rs371962006|rs200304320|rs138733834	byFrequency	TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	GGACGCCGGACCGACAC	GGACGCCGGACCGACAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr16:863356_863372delGGACGCCGGACCGACAC	ENST00000301698.1	+	3	704_720	c.704_720delGGACGCCGGACCGACAC	c.(703-720)aggacgccggaccgacacfs	p.RTPDRH235fs		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	235										large_intestine(1)|lung(1)|skin(1)	3						GGACCGGCAAGGACGCCGGACCGACACGGCCTCCCCA	0.714														1307	0.260982	0.6876	0.2622	5008	,	,		14975	0.0675		0.0755	False		,,,				2504	0.0736																0																																										SO:0001589	frameshift_variant	388199			BC156145	CCDS45372.1	16p13.3	2009-09-11			ENSG00000167945	ENSG00000167945			37230	protein-coding gene	gene with protein product						11157797	Standard	NM_001013638		Approved	gs64	uc010uut.2	Q96S07		ENST00000301698.1:c.704_720delGGACGCCGGACCGACAC	16.37:g.863356_863372delGGACGCCGGACCGACAC	ENSP00000301698:p.Arg235fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000301698.1	37	CCDS45372.1																																																																																				0.714	PRR25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440563.1		NM_001013638	
PZP	5858	hgsc.bcm.edu	37	12	9317897	9317897	+	Silent	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:9317897G>A	ENST00000261336.2	-	19	2353	c.2325C>T	c.(2323-2325)gcC>gcT	p.A775A	PZP_ENST00000381997.2_Silent_p.A644A|PZP_ENST00000539983.1_5'UTR	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	775					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGGCAGAAGGCCCCTGCCT	0.542																																					Melanoma(125;1402 1695 4685 34487 38571)												0													90.0	77.0	81.0					12																	9317897		2203	4300	6503	SO:0001819	synonymous_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.2325C>T	12.37:g.9317897G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.542	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864	
RAB2A	5862	hgsc.bcm.edu	37	8	61471447	61471447	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr8:61471447A>T	ENST00000262646.7	+	2	434	c.83A>T	c.(82-84)gAc>gTc	p.D28V	RAB2A_ENST00000529579.1_Missense_Mutation_p.D28V|RAB2A_ENST00000531289.1_Intron	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	28					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			CAGTTTACAGACAAGAGGTTT	0.308																																																	0													122.0	122.0	122.0					8																	61471447		2203	4300	6503	SO:0001583	missense	5862				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.83A>T	8.37:g.61471447A>T	ENSP00000262646:p.Asp28Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	ENST00000262646.7	37	CCDS6175.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.600113	0.87055	.	.	ENSG00000104388	ENST00000262646;ENST00000529579	T;T	0.77620	-1.11;-1.11	5.95	5.95	0.96441	Small GTP-binding protein domain (1);	0.044714	0.85682	D	0.000000	D	0.88797	0.6534	M	0.85099	2.735	0.80722	D	1	D	0.63880	0.993	D	0.68621	0.959	D	0.90428	0.4422	10	0.87932	D	0	.	15.4114	0.74923	1.0:0.0:0.0:0.0	.	28	P61019	RAB2A_HUMAN	V	28	ENSP00000262646:D28V;ENSP00000431589:D28V	ENSP00000262646:D28V	D	+	2	0	RAB2A	61634001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.018000	0.88722	2.282000	0.76494	0.533000	0.62120	GAC		0.308	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			
RBM47	54502	hgsc.bcm.edu	37	4	40434714	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCC	GCGGCTGCGGCC	-	rs370564777|rs564837143|rs528269773	byFrequency	TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	GCGGCTGCGGCC	GCGGCTGCGGCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:40434714_40434725delGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1892	c.1485_1496delGGCCGCAGCCGC	c.(1483-1497)gcggccgcagccgcc>gcc	p.495_499AAAAA>A	RBM47_ENST00000295971.7_In_Frame_Del_p.495_499AAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_430AAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_461AAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_430AAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						Agcggctgcggcggctgcggccgcggctgcgg	0.557														7	0.00139776	0.0	0.0014	5008	,	,		13163	0.004		0.002	False		,,,				2504	0.0																0									,	115,4115		9,97,2009					,	-0.1	0.1			37	140,8048		16,108,3970	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	25,205,5979	A1A1,A1R,RR		1.7098,2.7187,2.0535	,	,		255,12163				SO:0001651	inframe_deletion	54502			AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1496delGGCCGCAGCCGC	4.37:g.40434714_40434725delGCGGCTGCGGCC	ENSP00000371212:p.Ala499_Ala502del	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	CCDS43223.1																																																																																				0.557	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2		NM_019027	
ROS1	6098	hgsc.bcm.edu;ucsc.edu	37	6	117718129	117718129	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr6:117718129G>T	ENST00000368508.3	-	7	926	c.728C>A	c.(727-729)aCa>aAa	p.T243K	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T252K	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	243	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTTCTCTGTGTCCCTGCATC	0.418			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													149.0	156.0	154.0					6																	117718129		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.728C>A	6.37:g.117718129G>T	ENSP00000357494:p.Thr243Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837387	0.71373	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.54866	0.55;0.55	5.53	5.53	0.82687	.	0.090807	0.48286	D	0.000200	T	0.62060	0.2397	M	0.73430	2.235	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.60306	-0.7289	10	0.33940	T	0.23	.	12.1408	0.53996	0.0873:0.0:0.9127:0.0	.	243	P08922	ROS1_HUMAN	K	243;252	ENSP00000357494:T243K;ENSP00000357493:T252K	ENSP00000357493:T252K	T	-	2	0	ROS1	117824822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.152000	0.77419	2.760000	0.94817	0.650000	0.86243	ACA		0.418	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			
SCN3B	55800	hgsc.bcm.edu	37	11	123513374	123513374	+	Silent	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:123513374G>A	ENST00000392770.2	-	3	1027	c.225C>T	c.(223-225)taC>taT	p.Y75Y	SCN3B_ENST00000530277.1_Silent_p.Y75Y|SCN3B_ENST00000299333.3_Silent_p.Y75Y	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	75	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	TCCGATACTCGTAAATCTGCA	0.577																																																	0													30.0	31.0	31.0					11																	123513374		2202	4299	6501	SO:0001819	synonymous_variant	55800			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.225C>T	11.37:g.123513374G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	CCDS8442.1																																																																																				0.577	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1		NM_018400	
SERINC4	619189	hgsc.bcm.edu;ucsc.edu	37	15	44087392	44087392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr15:44087392C>A	ENST00000319327.6	-	12	1597	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	SERINC4_ENST00000299969.6_Missense_Mutation_p.W380C|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409291.1_Intron|HYPK_ENST00000406925.1_5'Flank|MIR1282_ENST00000408865.1_RNA|SERF2_ENST00000409646.1_Intron|SERINC4_ENST00000249714.3_Nonsense_Mutation_p.E211*|RP11-296A16.1_ENST00000417761.2_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	455					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		AAGGTCTTTTCCAGTTCTGCT	0.502																																																	0													70.0	64.0	66.0					15																	44087392		2198	4298	6496	SO:0001587	stop_gained	619189			DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1363G>T	15.37:g.44087392C>A	ENSP00000319796:p.Glu455*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN41|Q3YL75	Nonsense_Mutation	SNP	ENST00000319327.6	37	CCDS58360.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.508201|9.508201	0.99190|0.99190	.|.	.|.	ENSG00000184716|ENSG00000184716	ENST00000319327;ENST00000249714|ENST00000299969	.|T	.|0.31247	.|1.5	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.054171|.	0.64402|.	D|.	0.000001|.	.|T	.|0.58779	.|0.2146	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.54268	.|-0.8319	.|8	0.49607|0.41790	T|T	0.09|0.15	-12.3991|-12.3991	20.0966|20.0966	0.97849|0.97849	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|380	.|A6NM42	.|.	X|C	455;211|380	.|ENSP00000299969:W380C	ENSP00000249714:E211X|ENSP00000299969:W380C	E|W	-|-	1|3	0|0	SERINC4|SERINC4	41874684|41874684	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.794000|7.794000	0.85869|0.85869	2.751000|2.751000	0.94390|0.94390	0.650000|0.650000	0.86243|0.86243	GAA|TGG		0.502	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2			
SLC2A3	6515	hgsc.bcm.edu	37	12	8075533	8075533	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:8075533A>C	ENST00000075120.7	-	9	1396	c.1156T>G	c.(1156-1158)Tgg>Ggg	p.W386G		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	386					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ACAATAAACCAGGGAATGGGG	0.532																																					Colon(96;424 1461 14416 20933 23688)												0													36.0	39.0	38.0					12																	8075533		2203	4300	6503	SO:0001583	missense	6515			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1156T>G	12.37:g.8075533A>C	ENSP00000075120:p.Trp386Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	37	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054880	0.75960	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.76968	-1.06	4.34	4.34	0.51931	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88296	0.2946	10	0.48119	T	0.1	.	11.788	0.52053	1.0:0.0:0.0:0.0	.	386	P11169	GTR3_HUMAN	G	386;312	ENSP00000075120:W386G	ENSP00000075120:W386G	W	-	1	0	SLC2A3	7966800	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.281000	0.89905	1.943000	0.56356	0.533000	0.62120	TGG		0.532	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1		NM_006931	
SPAG17	200162	hgsc.bcm.edu;ucsc.edu	37	1	118558649	118558649	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:118558649T>A	ENST00000336338.5	-	29	4291	c.4226A>T	c.(4225-4227)gAa>gTa	p.E1409V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1409						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TGCTATTCTTTCTAATCCTTT	0.438																																																	0													160.0	173.0	169.0					1																	118558649		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4226A>T	1.37:g.118558649T>A	ENSP00000337804:p.Glu1409Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	10.93	1.488566	0.26686	.	.	ENSG00000155761	ENST00000336338	T	0.21361	2.01	4.98	4.98	0.66077	.	0.481320	0.22737	N	0.056243	T	0.20700	0.0498	L	0.54323	1.7	0.27067	N	0.963418	P	0.50272	0.933	P	0.55303	0.773	T	0.03175	-1.1064	10	0.51188	T	0.08	.	12.1879	0.54250	0.0:0.0:0.0:1.0	.	1409	Q6Q759	SPG17_HUMAN	V	1409	ENSP00000337804:E1409V	ENSP00000337804:E1409V	E	-	2	0	SPAG17	118360172	0.936000	0.31750	0.074000	0.20217	0.084000	0.17831	2.368000	0.44222	1.870000	0.54199	0.377000	0.23210	GAA		0.438	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996	
SPARC	6678	hgsc.bcm.edu;ucsc.edu	37	5	151049279	151049279	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:151049279delC	ENST00000231061.4	-	6	710	c.397delG	c.(397-399)gagfs	p.E133fs	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	133	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)			central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		TTGGTGCCCTCCAGGGTGCAC	0.557																																																	0													124.0	112.0	116.0					5																	151049279		2203	4300	6503	SO:0001589	frameshift_variant	6678				CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.397delG	5.37:g.151049279delC	ENSP00000231061:p.Glu133fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQH9|Q6IBK4	Frame_Shift_Del	DEL	ENST00000231061.4	37	CCDS4318.1																																																																																				0.557	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1		NM_003118	
SPINK5	11005	hgsc.bcm.edu;ucsc.edu	37	5	147505289	147505289	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:147505289G>A	ENST00000256084.7	+	29	2785	c.2743G>A	c.(2743-2745)Gag>Aag	p.E915K	SPINK5_ENST00000359874.3_Missense_Mutation_p.E945K	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	915	Kazal-like 14. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCTAGGATGAGTGCAGTGA	0.408																																																	0													181.0	178.0	179.0					5																	147505289		1911	4118	6029	SO:0001583	missense	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2743G>A	5.37:g.147505289G>A	ENSP00000256084:p.Glu915Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	ENST00000256084.7	37	CCDS43382.1	.	.	.	.	.	.	.	.	.	.	G	4.878	0.163174	0.09287	.	.	ENSG00000133710	ENST00000359874;ENST00000256084	T;T	0.06449	3.3;3.3	5.1	3.32	0.38043	Proteinase inhibitor I1, Kazal (1);	0.872449	0.09860	N	0.746322	T	0.05044	0.0135	L	0.31294	0.92	0.26751	N	0.970199	B;B	0.22746	0.074;0.019	B;B	0.22753	0.041;0.033	T	0.43278	-0.9401	10	0.07813	T	0.8	-8.2993	8.8553	0.35225	0.1675:0.0:0.8325:0.0	.	945;915	Q9NQ38-3;Q9NQ38	.;ISK5_HUMAN	K	945;915	ENSP00000352936:E945K;ENSP00000256084:E915K	ENSP00000256084:E915K	E	+	1	0	SPINK5	147485482	0.011000	0.17503	0.688000	0.30117	0.541000	0.35023	0.178000	0.16820	0.821000	0.34540	0.655000	0.94253	GAG		0.408	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000259215.2		NM_001127698	
SPP1	6696	hgsc.bcm.edu;ucsc.edu	37	4	88902880	88902880	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr4:88902880A>G	ENST00000395080.3	+	6	597	c.470A>G	c.(469-471)gAt>gGt	p.D157G	SPP1_ENST00000360804.4_Missense_Mutation_p.D130G|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000237623.7_Missense_Mutation_p.D143G	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	157					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GACACATATGATGGCCGAGGT	0.463																																																	0													162.0	149.0	153.0					4																	88902880		2203	4300	6503	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.470A>G	4.37:g.88902880A>G	ENSP00000378517:p.Asp157Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	ENST00000395080.3	37	CCDS43250.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.857164	0.32791	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804;ENST00000508233	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	5.49	4.17	0.49024	.	0.492688	0.20028	N	0.100769	T	0.47710	0.1460	L	0.50333	1.59	0.21020	N	0.999801	B;D;B;D;B	0.64830	0.024;0.994;0.024;0.992;0.024	B;P;B;P;B	0.62298	0.046;0.9;0.037;0.802;0.046	T	0.39014	-0.9634	10	0.37606	T	0.19	-10.7547	3.8323	0.08879	0.6525:0.214:0.1335:0.0	.	170;116;143;130;157	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	G	135;116;143;157;130;116	ENSP00000237623:D143G;ENSP00000378517:D157G;ENSP00000354042:D130G;ENSP00000422973:D116G	ENSP00000237623:D143G	D	+	2	0	SPP1	89121904	0.705000	0.27846	0.907000	0.35723	0.105000	0.19272	2.103000	0.41806	2.196000	0.70406	0.519000	0.50382	GAT		0.463	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253048.3			
STX19	415117	hgsc.bcm.edu;ucsc.edu	37	3	93733337	93733337	+	Silent	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr3:93733337C>T	ENST00000315099.2	-	2	1033	c.777G>A	c.(775-777)gaG>gaA	p.E259E	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	259	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)				kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TGTTAACATACTCTTTTGTAC	0.338																																																	0													69.0	67.0	68.0					3																	93733337		2203	4298	6501	SO:0001819	synonymous_variant	415117			AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.777G>A	3.37:g.93733337C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000315099.2	37	CCDS33793.1																																																																																				0.338	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1		NM_001001850	
TMCO4	255104	hgsc.bcm.edu;ucsc.edu	37	1	20082231	20082231	+	Silent	SNP	G	G	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:20082231G>A	ENST00000294543.6	-	7	652	c.411C>T	c.(409-411)ctC>ctT	p.L137L	TMCO4_ENST00000375127.1_Silent_p.L137L|TMCO4_ENST00000375122.2_Silent_p.L137L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	137						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGTGGCAAACGAGGACTCTGG	0.488																																																	0													99.0	102.0	101.0					1																	20082231		2203	4300	6503	SO:0001819	synonymous_variant	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.411C>T	1.37:g.20082231G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	ENST00000294543.6	37	CCDS198.1																																																																																				0.488	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1		NM_181719	
TMEM132C	92293	hgsc.bcm.edu;ucsc.edu	37	12	129180622	129180622	+	Silent	SNP	C	C	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr12:129180622C>A	ENST00000435159.2	+	7	1903	c.1903C>A	c.(1903-1905)Cga>Aga	p.R635R	TMEM132C_ENST00000315208.8_Silent_p.R251R|TMEM132C_ENST00000537538.1_Silent_p.R20R	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	635						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CCTGGTTGGGCGAGAGGTTGG	0.597																																																	0													93.0	89.0	91.0					12																	129180622		692	1591	2283	SO:0001819	synonymous_variant	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1903C>A	12.37:g.129180622C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q69YX8	Silent	SNP	ENST00000435159.2	37																																																																																					0.597	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_044062	
TTC23L	153657	hgsc.bcm.edu;ucsc.edu	37	5	34880314	34880314	+	Silent	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr5:34880314T>C	ENST00000505624.1	+	9	1081	c.978T>C	c.(976-978)agT>agC	p.S326S	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	326										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TCATAAGAAGTATCAATGCAT	0.363																																																	0													99.0	95.0	97.0					5																	34880314		1825	4091	5916	SO:0001819	synonymous_variant	153657				CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.978T>C	5.37:g.34880314T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6RGS4|Q8N7R3|Q96LJ2	Silent	SNP	ENST00000505624.1	37	CCDS54840.1																																																																																				0.363	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1		NM_144725	
TTC7B	145567	hgsc.bcm.edu;ucsc.edu	37	14	91155923	91155923	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr14:91155923T>G	ENST00000328459.6	-	7	1032	c.911A>C	c.(910-912)tAc>tCc	p.Y304S	TTC7B_ENST00000357056.2_Missense_Mutation_p.Y304S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	304										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AGTGAGAGTGTAGGTTTTTGT	0.512																																																	0													132.0	107.0	116.0					14																	91155923		2203	4300	6503	SO:0001583	missense	145567			BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.911A>C	14.37:g.91155923T>G	ENSP00000336127:p.Tyr304Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U24|Q86VT3	Missense_Mutation	SNP	ENST00000328459.6	37	CCDS32140.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.634112	0.47049	.	.	ENSG00000165914	ENST00000555768;ENST00000357056;ENST00000328459;ENST00000540938	T;T	0.38240	1.82;1.15	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.37758	0.1015	N	0.11106	0.095	0.80722	D	1	D	0.71674	0.998	D	0.75484	0.986	T	0.20571	-1.0271	10	0.08599	T	0.76	-5.9482	15.8282	0.78730	0.0:0.0:0.0:1.0	.	304	Q86TV6	TTC7B_HUMAN	S	202;304;304;46	ENSP00000349564:Y304S;ENSP00000336127:Y304S	ENSP00000336127:Y304S	Y	-	2	0	TTC7B	90225676	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.673000	0.83973	2.210000	0.71456	0.533000	0.62120	TAC		0.512	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179595296	179595296	+	Silent	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr2:179595296T>C	ENST00000591111.1	-	59	17237	c.17013A>G	c.(17011-17013)acA>acG	p.T5671T	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Silent_p.T5988T|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.T4744T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12480	Ig-like 37.				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)			AACAAGTGTATGTCCCACTGT	0.413																																																	0													122.0	120.0	121.0					2																	179595296		1951	4137	6088	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17013A>G	2.37:g.179595296T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
USP35	57558	hgsc.bcm.edu;ucsc.edu	37	11	77921086	77921086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr11:77921086C>T	ENST00000529308.1	+	10	2446	c.2185C>T	c.(2185-2187)Cag>Tag	p.Q729*	USP35_ENST00000526425.1_Nonsense_Mutation_p.Q460*|USP35_ENST00000441408.2_Nonsense_Mutation_p.Q315*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Nonsense_Mutation_p.Q297*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	729	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggaggctgagcaggaaaagga	0.612																																																	0													72.0	94.0	87.0					11																	77921086		2079	4214	6293	SO:0001587	stop_gained	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2185C>T	11.37:g.77921086C>T	ENSP00000431876:p.Gln729*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000529308.1	37	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	C	39	7.396993	0.98258	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	.	.	.	4.69	-4.58	0.03410	.	3.904850	0.00873	N	0.002042	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2388	7.5044	0.27536	0.2727:0.5562:0.1711:0.0	.	.	.	.	X	297;729;315;460	.	ENSP00000400825:Q315X	Q	+	1	0	USP35	77598734	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	-0.752000	0.04797	-1.143000	0.02866	-0.582000	0.04134	CAG		0.612	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1		XM_290527	
VHL	7428	hgsc.bcm.edu	37	3	10183767	10183767	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5550-01A-01W-1584-10	TCGA-B8-5550-10A-01W-1585-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		Illumina GAIIx	f8dca1fa-9afd-4eb6-b608-ac8a63ced992	a7a3d0df-1143-4b79-89b7-e2cddcd25fa9	g.chr3:10183767G>C	ENST00000256474.2	+	1	1076	c.236G>C	c.(235-237)cGc>cCc	p.R79P	VHL_ENST00000345392.2_Missense_Mutation_p.R79P|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	79			R -> P (in VHLD).		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.S72_V87>L(1)|p.S80fs*73(1)|p.R60fs*35(1)|p.R79P(1)|p.C77_R79del(1)|p.R79H(1)|p.N78fs*80(1)|p.V74fs*77(1)|p.R79_P81>P(1)|p.F76fs*81(1)|p.R79fs*52(1)|p.N78fs*50(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)		TTCTGCAATCGCAGTCCGCGC	0.711		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"""	12	Deletion - Frameshift(6)|Substitution - Missense(2)|Complex - deletion inframe(2)|Complex - frameshift(1)|Deletion - In frame(1)	kidney(12)	GRCh37	CM941366	VHL	M							12.0	15.0	14.0					3																	10183767		2175	4236	6411	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.236G>C	3.37:g.10183767G>C	ENSP00000256474:p.Arg79Pro	Somatic		WXS	PacBio RS	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	32	5.146045	0.94603	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99833	-7.03;-7.03	5.43	4.56	0.56223	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.221156	0.48286	D	0.000186	D	0.99684	0.9881	M	0.65498	2.005	0.26769	N	0.969848	D;D	0.76494	0.997;0.999	P;D	0.72338	0.906;0.977	D	0.99050	1.0827	10	0.59425	D	0.04	-11.3454	12.3184	0.54971	0.0825:0.0:0.9174:0.0	.	79;79	P40337-2;P40337	.;VHL_HUMAN	P	79	ENSP00000256474:R79P;ENSP00000344757:R79P	ENSP00000256474:R79P	R	+	2	0	VHL	10158767	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.892000	0.39748	1.300000	0.44818	0.550000	0.68814	CGC		0.711	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR78	79819	hgsc.bcm.edu	37	1	67390428	67390428	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:67390428T>A	ENST00000371026.3	-	1	142	c.87A>T	c.(85-87)aaA>aaT	p.K29N	MIER1_ENST00000371018.3_5'Flank|WDR78_ENST00000371023.3_Missense_Mutation_p.K29N|MIER1_ENST00000355977.6_5'Flank|WDR78_ENST00000431318.1_5'UTR|MIER1_ENST00000371014.1_5'Flank|MIER1_ENST00000371012.2_5'Flank|WDR78_ENST00000371022.3_Missense_Mutation_p.K29N|MIER1_ENST00000357692.2_5'Flank|MIER1_ENST00000371016.1_5'Flank|MIER1_ENST00000401041.1_5'Flank	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	29					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACCACCCCTTTTTTTGGCCGC	0.632																																																	0													97.0	98.0	98.0					1																	67390428		2203	4300	6503	SO:0001583	missense	79819			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.87A>T	1.37:g.67390428T>A	ENSP00000360065:p.Lys29Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	CCDS635.1	.	.	.	.	.	.	.	.	.	.	T	12.62	1.992127	0.35131	.	.	ENSG00000152763	ENST00000371026;ENST00000371023;ENST00000371022	T;T;T	0.59364	0.27;1.96;1.17	3.71	-0.0969	0.13635	.	2.666740	0.01769	N	0.031076	T	0.15003	0.0362	N	0.08118	0	0.20307	N	0.999913	B;B;B	0.32160	0.358;0.244;0.148	B;B;B	0.29785	0.107;0.05;0.025	T	0.08722	-1.0708	10	0.37606	T	0.19	0.0012	4.7723	0.13162	0.0:0.1151:0.4403:0.4446	.	29;29;29	Q5TAD8;A0AVI9;Q5VTH9	.;.;WDR78_HUMAN	N	29	ENSP00000360065:K29N;ENSP00000360062:K29N;ENSP00000360061:K29N	ENSP00000360061:K29N	K	-	3	2	WDR78	67163016	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.055000	0.14229	-0.015000	0.14150	-0.379000	0.06801	AAA		0.632	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1		NM_024763	
WFIKKN1	117166	hgsc.bcm.edu	37	16	681423	681423	+	Splice_Site	SNP	A	A	T			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr16:681423A>T	ENST00000319070.2	+	1	492	c.170A>T	c.(169-171)cAg>cTg	p.Q57L		NM_053284.2	NP_444514.1	Q96NZ8	WFKN1_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	57	WAP. {ECO:0000255|PROSITE- ProRule:PRU00722}.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Hepatocellular(780;0.00335)				AGCAGGGACCAGGTGAGTGTG	0.697																																																	0													32.0	30.0	30.0					16																	681423		2198	4295	6493	SO:0001630	splice_region_variant	117166			AK075356	CCDS10414.1	16p13	2013-01-21			ENSG00000127578	ENSG00000127578		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30912	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20A"""	608021	"""chromosome 16 open reading frame 12"""	C16orf12		11274388, 11928817	Standard	NM_053284		Approved	RJD2, WFIKKN, WFDC20A	uc002cht.1	Q96NZ8	OTTHUMG00000090359	ENST00000319070.2:c.171+1A>T	16.37:g.681423A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7LDW0|Q8NBQ1|Q96S20	Missense_Mutation	SNP	ENST00000319070.2	37	CCDS10414.1	.	.	.	.	.	.	.	.	.	.	a	15.19	2.758619	0.49468	.	.	ENSG00000127578	ENST00000319070	T	0.71461	-0.57	4.63	4.63	0.57726	Whey acidic protein, 4-disulphide core (5);	0.146393	0.46145	D	0.000302	T	0.75140	0.3809	L	0.41632	1.29	0.52099	D	0.999947	D	0.61697	0.99	P	0.62491	0.903	T	0.75880	-0.3161	10	0.46703	T	0.11	.	13.4043	0.60903	1.0:0.0:0.0:0.0	.	57	Q96NZ8	WFKN1_HUMAN	L	57	ENSP00000324763:Q57L	ENSP00000324763:Q57L	Q	+	2	0	WFIKKN1	621424	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	2.249000	0.43169	1.959000	0.56917	0.450000	0.29827	CAG		0.697	WFIKKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206731.2		NM_053284	Missense_Mutation
ZCCHC17	51538	hgsc.bcm.edu;ucsc.edu	37	1	31836934	31836934	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr1:31836934A>C	ENST00000373714.1	+	8	881	c.620A>C	c.(619-621)gAc>gCc	p.D207A	ZCCHC17_ENST00000422613.2_Missense_Mutation_p.D209A|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.D199A|FABP3_ENST00000497275.1_5'Flank|ZCCHC17_ENST00000344147.5_Missense_Mutation_p.D207A	NM_001282568.1|NM_001282570.1	NP_001269497.1|NP_001269499.1	Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	207	Lys-rich.					cytosolic large ribosomal subunit (GO:0022625)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GACAGCTCAGACTCTGAGAGT	0.388																																																	0													87.0	91.0	90.0					1																	31836934		2203	4300	6503	SO:0001583	missense	51538			AF151085	CCDS341.1, CCDS60061.1, CCDS72741.1, CCDS72742.1, CCDS72743.1, CCDS72744.1	1p35.2	2008-05-02			ENSG00000121766	ENSG00000121766		"""Zinc fingers, CCHC domain containing"""	30246	protein-coding gene	gene with protein product						12202495, 12893261	Standard	NM_001282572		Approved	PS1D, HSPC251, pNO40	uc001bsp.1	Q9NP64	OTTHUMG00000003791	ENST00000373714.1:c.620A>C	1.37:g.31836934A>C	ENSP00000362819:p.Asp207Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DY38|D3DPN4|Q6PKH4|Q9NYG4|Q9P0M8	Missense_Mutation	SNP	ENST00000373714.1	37	CCDS341.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.420626	0.62622	.	.	ENSG00000121766	ENST00000344147;ENST00000373714;ENST00000546109;ENST00000422613	.	.	.	5.52	4.4	0.53042	.	0.341184	0.38897	N	0.001538	T	0.54647	0.1871	L	0.50333	1.59	0.27000	N	0.964922	D;B;P	0.69078	0.997;0.084;0.949	D;B;B	0.75484	0.986;0.043;0.29	T	0.48822	-0.9001	9	0.72032	D	0.01	.	8.8881	0.35416	0.9159:0.0:0.0841:0.0	.	209;199;207	E7EPF0;B4DY38;Q9NP64	.;.;NO40_HUMAN	A	207;207;199;209	.	ENSP00000343557:D207A	D	+	2	0	ZCCHC17	31609521	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.123000	0.41996	1.119000	0.41883	0.528000	0.53228	GAC		0.388	ZCCHC17-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010665.1		NM_016505	
ZNF519	162655	hgsc.bcm.edu	37	18	14105236	14105236	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr18:14105236T>C	ENST00000590202.1	-	3	1455	c.1303A>G	c.(1303-1305)Aaa>Gaa	p.K435E	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	435					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						CCACATTCTTTACATTTGAAG	0.408																																																	0													68.0	67.0	68.0					18																	14105236		2203	4298	6501	SO:0001583	missense	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1303A>G	18.37:g.14105236T>C	ENSP00000464872:p.Lys435Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000590202.1	37	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	T	0.622	-0.820549	0.02755	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.23	0.09465	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08891	0.0220	N	0.02225	-0.63	0.09310	N	1	B	0.21753	0.06	B	0.25987	0.065	T	0.34477	-0.9827	8	0.02654	T	1	.	4.2916	0.10881	0.0:0.2689:0.0:0.7311	.	435	Q8TB69	ZN519_HUMAN	E	435	.	ENSP00000307908:K435E	K	-	1	0	ZNF519	14095236	0.000000	0.05858	0.833000	0.33012	0.503000	0.33858	-5.313000	0.00132	-0.373000	0.07979	0.076000	0.15429	AAA		0.408	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1		NM_145287	
ZNF519	162655	hgsc.bcm.edu	37	18	14105246	14105249	+	Missense_Mutation	ONP	GTGT	GTGT	AGAC	rs149803578|rs145735313|rs144389001|rs148982947	byFrequency	TCGA-B8-5550-01A-01D-1534-10	TCGA-B8-5550-10A-01D-1535-10	G|T|G|T	G|T|G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a604587-2575-4a52-95a7-ca5c5971045d	d86d79bb-fbb2-46a6-9f40-32f2b17dc4b9	g.chr18:14105246_14105249GTGT>AGAC	ENST00000590202.1	-	3	1442_1445	c.1290_1293ACAC>GTCT	c.(1288-1293)aaACAC>aaGTCT	p.H431S	ZNF519_ENST00000589203.1_Intron|ZNF519_ENST00000589498.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	431					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TACATTTGAAGTGTTTCTCTCCAG	0.402																																																	0																																										SO:0001583	missense	162655			BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1290_1293ACAC>GTCT	18.37:g.14105246GTGT>AGAC	ENSP00000464872:p.His431Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Silent|Missense_Mutation|Missense_Mutation|Silent	SNP	ENST00000590202.1	37	CCDS32797.1																																																																																				0.402	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1		NM_145287	
