#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
ABCC6	368	broad.mit.edu;ucsc.edu	37	16	16244592	16244592	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:16244592G>T	ENST00000205557.7	-	30	4275	c.4246C>A	c.(4246-4248)Ctt>Att	p.L1416I		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1416	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.L1416I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	TTCCGGAGAAGGGCACGTGCC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											45.0	39.0	41.0					16																	16244592		2197	4300	6497	SO:0001583	missense	368			AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.4246C>A	16.37:g.16244592G>T	ENSP00000205557:p.Leu1416Ile	Somatic		WXS	Illumina GAIIx	Phase_I	A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115725	0.77323	.	.	ENSG00000091262	ENST00000205557;ENST00000205558	D	0.95137	-3.62	4.36	4.36	0.52297	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.38548	U	0.001641	D	0.96150	0.8745	L	0.51914	1.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96914	0.9669	10	0.87932	D	0	.	16.8809	0.86062	0.0:0.0:1.0:0.0	.	1416;1416	O95255;A8Y988	MRP6_HUMAN;.	I	1416;354	ENSP00000205557:L1416I	ENSP00000205557:L1416I	L	-	1	0	ABCC6	16152093	1.000000	0.71417	0.938000	0.37757	0.947000	0.59692	3.019000	0.49635	2.154000	0.67381	0.549000	0.68633	CTT		0.612	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			
ABO	28	hgsc.bcm.edu	37	9	136131622	136131622	+	RNA	DEL	T	T	-	rs563704490	byFrequency	TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr9:136131622delT	ENST00000453660.2	-	0	506				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TGCCGACCGGTCCCCAGCGTC	0.662													T|T|-|deletion	16	0.00319489	0.0	0.0014	5008	,	,		15463	0.0		0.002	False		,,,				2504	0.0133																0										5,3859		1,3,1928	23.0	25.0	24.0			-5.8	0.0	9	dbSNP_129	24	21,7925		2,17,3954	no	frameshift	ABO	NM_020469.2		3,20,5882	A1A1,A1R,RR		0.2643,0.1294,0.2202			136131622	26,11784	2011	4161	6172			28			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131622delT		Somatic		WXS	Illumina HiSeq	Phase_I	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Frame_Shift_Del	DEL	ENST00000453660.2	37																																																																																					0.662	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4		NM_020469	
ALG8	79053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77812070	77812070	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr11:77812070C>A	ENST00000299626.5	-	13	1592	c.1521G>T	c.(1519-1521)tgG>tgT	p.W507C	ALG8_ENST00000532552.2_5'Flank|ALG8_ENST00000376156.3_3'UTR	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	507					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)	p.W507C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			ACAGTTTGAACCAAGCATATG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											146.0	138.0	140.0					11																	77812070		2200	4292	6492	SO:0001583	missense	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1521G>T	11.37:g.77812070C>A	ENSP00000299626:p.Trp507Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.03|16.03	3.006109|3.006109	0.54361|0.54361	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000530608|ENST00000299626;ENST00000526849	.|D;D	.|0.84873	.|-1.91;-1.91	4.95|4.95	4.04|4.04	0.47022|0.47022	.|.	.|0.111353	.|0.64402	.|D	.|0.000004	D|D	0.91922|0.91922	0.7442|0.7442	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	.|P;D	.|0.76494	.|0.937;0.999	.|P;D	.|0.74348	.|0.646;0.983	D|D	0.92530|0.92530	0.6032|0.6032	5|10	.|0.54805	.|T	.|0.06	-5.4079|-5.4079	13.6777|13.6777	0.62465|0.62465	0.0:0.9257:0.0:0.0743|0.0:0.9257:0.0:0.0743	.|.	.|507;507	.|B3KQL8;Q9BVK2	.|.;ALG8_HUMAN	V|C	209|507;178	.|ENSP00000299626:W507C;ENSP00000434388:W178C	.|ENSP00000299626:W507C	G|W	-|-	2|3	0|0	ALG8|ALG8	77489718|77489718	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	3.767000|3.767000	0.55288|0.55288	1.449000|1.449000	0.47699|0.47699	0.563000|0.563000	0.77884|0.77884	GGT|TGG		0.388	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390637.1		NM_024079	
ANKRD36	375248	broad.mit.edu	37	2	97869931	97869931	+	Missense_Mutation	SNP	A	A	T	rs76309140		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:97869931A>T	ENST00000461153.2	+	50	3236	c.2992A>T	c.(2992-2994)Aca>Tca	p.T998S	ANKRD36_ENST00000420699.2_Missense_Mutation_p.T998S			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	998								p.T998S(13)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CATTCAGGCTACAAGTGATGA	0.289																																																	13	Substitution - Missense(13)	kidney(6)|endometrium(4)|prostate(3)											37.0	44.0	42.0					2																	97869931		692	1587	2279	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2992A>T	2.37:g.97869931A>T	ENSP00000419530:p.Thr998Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	CCDS54379.1	.	.	.	.	.	.	.	.	.	.	.	3.819	-0.038219	0.07497	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.32753	1.44;1.44	0.63	-0.824	0.10812	.	.	.	.	.	T	0.14056	0.0340	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.28849	0.095	T	0.12837	-1.0532	8	0.38643	T	0.18	.	.	.	.	.	998	A6QL64	AN36A_HUMAN	S	998;998;360	ENSP00000419530:T998S;ENSP00000391950:T998S	ENSP00000391950:T998S	T	+	1	0	ANKRD36	97233658	0.019000	0.18553	0.011000	0.14972	0.022000	0.10575	-0.850000	0.04317	-0.324000	0.08589	0.147000	0.16070	ACA		0.289	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			
ATP1B1	481	broad.mit.edu	37	1	169076145	169076145	+	Silent	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr1:169076145C>T	ENST00000367816.1	+	2	607	c.78C>T	c.(76-78)ggC>ggT	p.G26G	RP5-1018K9.1_ENST00000415637.1_RNA|ATP1B1_ENST00000367815.4_Silent_p.G26G|ATP1B1_ENST00000499679.3_5'Flank			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	26					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)	p.G26G(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					AGTTTCTGGGCAGGACCGGTG	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	56.0	54.0					1																	169076145		2203	4300	6503	SO:0001819	synonymous_variant	481			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.78C>T	1.37:g.169076145C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q5TGZ3	RNA	SNP	ENST00000367816.1	37	CCDS1276.1																																																																																				0.662	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1			
AXIN1	8312	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	396290	396291	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:396290_396291CC>TT	ENST00000262320.3	-	2	1106_1107	c.735_736GG>AA	c.(733-738)gaGGaa>gaAAaa	p.E246K	AXIN1_ENST00000354866.3_Missense_Mutation_p.E246K|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	246	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)	p.E245E(1)|p.E246K(1)|p.E245>?(1)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CACTTCCATTCCTCATCTTCAT	0.584																																																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.735_736delinsTT	16.37:g.396290_396291delinsTT	ENSP00000262320:p.Glu246Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Missense_Mutation|Silent	SNP	ENST00000262320.3	37	CCDS10405.1																																																																																				0.584	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3			
BACH1	571	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30693729	30693729	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr21:30693729A>G	ENST00000399921.1	+	2	371	c.128A>G	c.(127-129)cAg>cGg	p.Q43R	BACH1_ENST00000286800.3_Missense_Mutation_p.Q43R	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q43R(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						GTGGAGGGACAGCGGTTCCGC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											147.0	119.0	129.0					21																	30693729		2203	4300	6503	SO:0001583	missense	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.128A>G	21.37:g.30693729A>G	ENSP00000382805:p.Gln43Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000399921.1	37	CCDS13585.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.097814	0.37048	.	.	ENSG00000156273	ENST00000286800;ENST00000399921;ENST00000451655;ENST00000447177;ENST00000435072	T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27	5.33	-2.55	0.06288	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.413864	0.25324	N	0.031496	T	0.37839	0.1018	N	0.05050	-0.12	0.26454	N	0.975565	B	0.16802	0.019	B	0.19666	0.026	T	0.28073	-1.0055	9	.	.	.	-3.6442	10.9707	0.47438	0.5912:0.0:0.4088:0.0	.	43	O14867	BACH1_HUMAN	R	43	ENSP00000286800:Q43R;ENSP00000382805:Q43R;ENSP00000400576:Q43R;ENSP00000408605:Q43R;ENSP00000392202:Q43R	.	Q	+	2	0	BACH1	29615600	0.017000	0.18338	0.113000	0.21522	0.754000	0.42855	0.492000	0.22435	-0.378000	0.07918	0.455000	0.32223	CAG		0.522	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1		NM_206866	
BCL9L	283149	broad.mit.edu	37	11	118774003	118774014	+	In_Frame_Del	DEL	CGCCCCCGCCCC	CGCCCCCGCCCC	-	rs561163109|rs537366265|rs559945924	byFrequency	TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	CGCCCCCGCCCC	CGCCCCCGCCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr11:118774003_118774014delCGCCCCCGCCCC	ENST00000334801.3	-	4	1644_1655	c.680_691delGGGGCGGGGGCG	c.(679-693)gggggcgggggcgtc>gtc	p.GGGG227del	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	227					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TTTCCGGGGAcgcccccgcccccgcccccgcc	0.693														11	0.00219649	0.0015	0.0101	5008	,	,		12847	0.002		0.0	False		,,,				2504	0.0																0										17,22,3805		5,0,7,9,4,1897						3.8	0.8			15	25,37,7438		5,0,15,12,13,3705	no	codingComplex	BCL9L	NM_182557.2		10,0,22,21,17,5602	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8267,1.0146,0.8903				42,59,11243				SO:0001651	inframe_deletion	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.680_691delGGGGCGGGGGCG	11.37:g.118774003_118774014delCGCCCCCGCCCC	ENSP00000335320:p.Gly227_Gly230del	Somatic		WXS	Illumina GAIIx	Phase_I	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	In_Frame_Del	DEL	ENST00000334801.3	37	CCDS8403.1																																																																																				0.693	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1		NM_182557	
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40590148	40590148	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr21:40590148A>G	ENST00000333229.2	-	31	3916	c.3589T>C	c.(3589-3591)Tac>Cac	p.Y1197H	BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000380800.3_Missense_Mutation_p.Y1197H|BRWD1_ENST00000342449.3_Missense_Mutation_p.Y1197H	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1197	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Y1197H(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGTACAGTACTTCGGGTAT	0.373																																					Melanoma(170;988 1986 4794 16843 39731)												2	Substitution - Missense(2)	kidney(2)											111.0	109.0	109.0					21																	40590148		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.3589T>C	21.37:g.40590148A>G	ENSP00000330753:p.Tyr1197His	Somatic		WXS	Illumina HiSeq	Phase_I	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.6|24.6	4.545764|4.545764	0.86022|0.86022	.|.	.|.	ENSG00000185658|ENSG00000185658	ENST00000424441|ENST00000333229;ENST00000342449;ENST00000380800;ENST00000380783	.|T;T;T	.|0.69685	.|-0.42;-0.42;-0.42	5.56|5.56	5.56|5.56	0.83823|0.83823	.|Bromodomain (5);	.|0.000000	.|0.64402	.|D	.|0.000008	D|D	0.89670|0.89670	0.6782|0.6782	H|H	0.99347|0.99347	4.525|4.525	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.999;1.0	.|D;D;D	.|0.97110	.|1.0;0.983;1.0	D|D	0.93976|0.93976	0.7254|0.7254	5|10	.|0.87932	.|D	.|0	-4.6286|-4.6286	15.7049|15.7049	0.77569|0.77569	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1197;1197;1197	.|Q9NSI6-3;Q9NSI6-2;Q9NSI6	.|.;.;BRWD1_HUMAN	A|H	182|1197;1197;1197;201	.|ENSP00000330753:Y1197H;ENSP00000344333:Y1197H;ENSP00000370178:Y1197H	.|ENSP00000330753:Y1197H	V|Y	-|-	2|1	0|0	BRWD1|BRWD1	39512018|39512018	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.823000|0.823000	0.46562|0.46562	8.792000|8.792000	0.91856|0.91856	2.120000|2.120000	0.65058|0.65058	0.379000|0.379000	0.24179|0.24179	GTA|TAC		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656	
C17orf97	400566	hgsc.bcm.edu	37	17	263652	263652	+	Missense_Mutation	SNP	G	G	A	rs111543298	byFrequency	TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr17:263652G>A	ENST00000360127.6	+	2	1034	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	370	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.E340K(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.697																																																	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)																																								SO:0001583	missense	400566			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1018G>A	17.37:g.263652G>A	ENSP00000353245:p.Glu340Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.456157	0.01071	.	.	ENSG00000187624	ENST00000360127	T	0.30448	1.53	2.05	-4.1	0.03940	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16660	-1.0395	9	0.20046	T	0.44	.	1.1152	0.01713	0.4009:0.1974:0.266:0.1357	.	340	Q6ZQX7-4	.	K	340	ENSP00000353245:E340K	ENSP00000353245:E340K	E	+	1	0	C17orf97	263998	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.847000	0.00351	-2.613000	0.00444	-1.026000	0.02426	GAG		0.697	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4		NM_001013672	
CHD4	1108	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6688041	6688041	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:6688041T>G	ENST00000357008.2	-	34	5115	c.4952A>C	c.(4951-4953)gAt>gCt	p.D1651A	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.D1644A|CHD4_ENST00000544484.1_Missense_Mutation_p.D1676A|CHD4_ENST00000309577.6_Missense_Mutation_p.D1679A|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1651	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.D1651A(1)|p.D1679A(1)		central_nervous_system(2)	2						AGGGGTCAGATCTATTGCTGA	0.438																																					Colon(32;586 792 4568 16848 45314)												2	Substitution - Missense(2)	kidney(2)											168.0	143.0	151.0					12																	6688041		2203	4300	6503	SO:0001583	missense	1108			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4952A>C	12.37:g.6688041T>G	ENSP00000349508:p.Asp1651Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	16.05	3.013881	0.54468	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90385	-2.66;-2.66;-2.66;-2.65	5.7	5.7	0.88788	.	0.310798	0.34932	N	0.003567	D	0.87728	0.6250	L	0.53249	1.67	0.47511	D	0.999441	B;B;B	0.33612	0.419;0.141;0.221	B;B;B	0.31614	0.133;0.063;0.133	D	0.86170	0.1599	10	0.36615	T	0.2	.	14.1997	0.65693	0.0:0.0:0.0:1.0	.	1679;1651;1644	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	A	1676;1644;1679;1651;1625	ENSP00000440392:D1676A;ENSP00000440542:D1644A;ENSP00000312419:D1679A;ENSP00000349508:D1651A	ENSP00000312419:D1679A	D	-	2	0	CHD4	6558302	0.988000	0.35896	0.994000	0.49952	0.957000	0.61999	4.757000	0.62213	2.183000	0.69458	0.533000	0.62120	GAT		0.438	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001273	
DGKG	1608	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	185882703	185882703	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:185882703C>T	ENST00000265022.3	-	23	2739	c.2200G>A	c.(2200-2202)Gcc>Acc	p.A734T	DGKG_ENST00000344484.4_Missense_Mutation_p.A709T|DGKG_ENST00000447054.1_5'UTR|DGKG_ENST00000544847.1_Missense_Mutation_p.A675T|DGKG_ENST00000382164.4_Missense_Mutation_p.A695T	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	734					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.A734T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GTGACAGAGGCGCACTGGGCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											117.0	97.0	104.0					3																	185882703		2203	4300	6503	SO:0001583	missense	1608			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.2200G>A	3.37:g.185882703C>T	ENSP00000265022:p.Ala734Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAH4|Q2M1H4|Q5FWG1	Missense_Mutation	SNP	ENST00000265022.3	37	CCDS3274.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.474392	0.43942	.	.	ENSG00000058866	ENST00000265022;ENST00000344484;ENST00000382164;ENST00000544847	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.46	1.42	0.22433	Diacylglycerol kinase, accessory domain (2);	0.246207	0.41823	N	0.000814	T	0.21962	0.0529	N	0.12746	0.255	0.28612	N	0.908625	B;B;B;B	0.22414	0.004;0.012;0.008;0.069	B;B;B;B	0.17098	0.006;0.01;0.003;0.017	T	0.15925	-1.0420	10	0.87932	D	0	.	7.4415	0.27185	0.6299:0.1271:0.0:0.2431	.	675;709;695;734	F5GX27;P49619-2;P49619-3;P49619	.;.;.;DGKG_HUMAN	T	734;709;695;675	ENSP00000265022:A734T;ENSP00000339777:A709T;ENSP00000371599:A695T;ENSP00000440507:A675T	ENSP00000265022:A734T	A	-	1	0	DGKG	187365397	0.990000	0.36364	0.998000	0.56505	0.975000	0.68041	1.006000	0.29847	0.434000	0.26340	-0.259000	0.10710	GCC		0.577	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344800.3			
DHX34	9704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	47856562	47856562	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr19:47856562C>T	ENST00000328771.4	+	2	624	c.275C>T	c.(274-276)gCg>gTg	p.A92V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	92					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)	p.A92V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCATCCCAGCGCTGGCCGAC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											110.0	108.0	109.0					19																	47856562		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.275C>T	19.37:g.47856562C>T	ENSP00000331907:p.Ala92Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	9.612	1.131600	0.21041	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02787	4.16	5.84	5.84	0.93424	.	0.000000	0.50627	D	0.000105	T	0.03739	0.0106	L	0.50333	1.59	0.34473	D	0.703007	B;B	0.27380	0.173;0.177	B;B	0.17433	0.012;0.018	T	0.35525	-0.9785	10	0.26408	T	0.33	-19.4914	12.2699	0.54700	0.0:0.9212:0.0:0.0788	.	92;92	Q14147;B4E3G3	DHX34_HUMAN;.	V	92	ENSP00000331907:A92V	ENSP00000257252:A92V	A	+	2	0	DHX34	52548402	0.698000	0.27777	0.171000	0.22900	0.124000	0.20399	1.777000	0.38604	2.770000	0.95276	0.555000	0.69702	GCG		0.582	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681	
DHX36	170506	hgsc.bcm.edu;ucsc.edu	37	3	153994678	153994678	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:153994678T>C	ENST00000496811.1	-	24	2779	c.2699A>G	c.(2698-2700)tAt>tGt	p.Y900C	DHX36_ENST00000329463.5_Missense_Mutation_p.Y886C|DHX36_ENST00000544526.1_Missense_Mutation_p.Y886C|DHX36_ENST00000308361.6_Missense_Mutation_p.Y871C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	900					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)	p.Y900C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGTGCAGTCATACAAGTATAT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											67.0	69.0	68.0					3																	153994678		2203	4300	6503	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2699A>G	3.37:g.153994678T>C	ENSP00000417078:p.Tyr900Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.207756	0.79240	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.03358	4.13;4.07;3.96;3.96	5.88	5.88	0.94601	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.17534	0.0421	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.77557	0.976;0.973;0.99	T	0.00161	-1.1972	10	0.46703	T	0.11	.	16.2792	0.82664	0.0:0.0:0.0:1.0	.	886;871;900	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	C	900;871;886;886	ENSP00000417078:Y900C;ENSP00000309296:Y871C;ENSP00000444247:Y886C;ENSP00000330113:Y886C	ENSP00000309296:Y871C	Y	-	2	0	DHX36	155477372	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.587000	0.82613	2.243000	0.73865	0.533000	0.62120	TAT		0.328	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1		NM_020865	
EDIL3	10085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	83356228	83356228	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:83356228G>A	ENST00000296591.5	-	9	1446	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	EDIL3_ENST00000510271.1_5'UTR|EDIL3_ENST00000380138.3_Missense_Mutation_p.T333M	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	343	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)	p.T343M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CATGTTGAGCGTTCTGAAGAT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											146.0	131.0	136.0					5																	83356228		2203	4300	6503	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.1028C>T	5.37:g.83356228G>A	ENSP00000296591:p.Thr343Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.216198	0.79352	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98264	-4.83;-4.83	5.96	5.96	0.96718	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.998	P;D;D	0.87578	0.715;0.998;0.962	D	0.99814	1.1043	10	0.87932	D	0	-23.5323	20.422	0.99049	0.0:0.0:1.0:0.0	.	120;333;343	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	M	343;333	ENSP00000296591:T343M;ENSP00000369483:T333M	ENSP00000296591:T343M	T	-	2	0	EDIL3	83391984	1.000000	0.71417	0.961000	0.40146	0.547000	0.35210	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	ACG		0.483	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1		NM_005711	
ERBB3	2065	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56487573	56487573	+	Silent	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:56487573A>G	ENST00000267101.3	+	13	1946	c.1506A>G	c.(1504-1506)ccA>ccG	p.P502P	ERBB3_ENST00000415288.2_Silent_p.P443P|ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	502					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.P502P(1)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGTGTGACCCACTGTGCTCCT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	87.0	86.0					12																	56487573		2203	4300	6503	SO:0001819	synonymous_variant	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1506A>G	12.37:g.56487573A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																				0.567	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			
FAM135A	57579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71186969	71186969	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:71186969T>G	ENST00000418814.2	+	8	1090	c.476T>G	c.(475-477)tTc>tGc	p.F159C	FAM135A_ENST00000370479.3_Missense_Mutation_p.F116C|FAM135A_ENST00000505769.1_Missense_Mutation_p.F159C|FAM135A_ENST00000361499.3_Missense_Mutation_p.F159C|FAM135A_ENST00000457062.2_Missense_Mutation_p.F116C|FAM135A_ENST00000505868.1_Missense_Mutation_p.F159C	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	159								p.F116C(1)|p.F159C(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TTTGATTACTTCCACCTTTCT	0.378																																																	2	Substitution - Missense(2)	kidney(2)											185.0	163.0	171.0					6																	71186969		2203	4300	6503	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.476T>G	6.37:g.71186969T>G	ENSP00000410768:p.Phe159Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351902	0.82132	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.29917	1.77;1.92;1.55;1.92;1.9;1.76	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	M	0.70275	2.135	0.49299	D	0.999774	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.52866	-0.8518	10	0.72032	D	0.01	.	15.7056	0.77577	0.0:0.0:0.0:1.0	.	159;159;159;116	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	C	159;116;159;159;116;159;159	ENSP00000410768:F159C;ENSP00000359510:F116C;ENSP00000423785:F159C;ENSP00000409201:F116C;ENSP00000354913:F159C;ENSP00000423307:F159C	ENSP00000354913:F159C	F	+	2	0	FAM135A	71243690	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	8.015000	0.88690	2.120000	0.65058	0.377000	0.23210	TTC		0.378	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2		NM_020819	
EMC9	51016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24608257	24608257	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr14:24608257G>C	ENST00000419198.2	-	5	869	c.589C>G	c.(589-591)Cag>Gag	p.Q197E	EMC9_ENST00000558200.1_5'Flank|EMC9_ENST00000560403.1_Missense_Mutation_p.Q123E|EMC9_ENST00000216799.4_Missense_Mutation_p.Q197E|RP11-468E2.5_ENST00000558478.1_lincRNA			Q9Y3B6	EMC9_HUMAN	ER membrane protein complex subunit 9	197						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)		p.Q197E(1)									CCAACCCACTGGGTGATTTGA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											65.0	62.0	63.0					14																	24608257		2203	4300	6503	SO:0001583	missense	0			BF346999	CCDS9613.1	14q12	2012-05-30	2012-05-30	2012-05-30	ENSG00000100908	ENSG00000100908			20273	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 122"", ""family with sequence similarity 158, member A"""	C14orf122, FAM158A		22119785	Standard	NM_016049		Approved	CGI-112	uc001wmi.3	Q9Y3B6	OTTHUMG00000028796	ENST00000419198.2:c.589C>G	14.37:g.24608257G>C	ENSP00000403210:p.Gln197Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DS60|Q9BUM3	Missense_Mutation	SNP	ENST00000419198.2	37	CCDS9613.1	.	.	.	.	.	.	.	.	.	.	g	2.106	-0.405009	0.04832	.	.	ENSG00000100908	ENST00000419198;ENST00000216799	T;T	0.40476	1.03;1.03	4.92	4.92	0.64577	.	0.117840	0.56097	D	0.000021	T	0.19327	0.0464	N	0.02736	-0.51	0.40044	D	0.975693	B	0.10296	0.003	B	0.12837	0.008	T	0.12344	-1.0551	10	0.07644	T	0.81	-26.615	15.645	0.77042	0.0:0.0:1.0:0.0	.	197	Q9Y3B6	F158A_HUMAN	E	197	ENSP00000403210:Q197E;ENSP00000216799:Q197E	ENSP00000216799:Q197E	Q	-	1	0	FAM158A	23678097	1.000000	0.71417	0.993000	0.49108	0.967000	0.64934	4.646000	0.61411	2.550000	0.86006	0.655000	0.94253	CAG		0.562	EMC9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071917.4		NM_016049	
FAM169A	26049	hgsc.bcm.edu	37	5	74091886	74091887	+	Frame_Shift_Ins	INS	-	-	G	rs200829237		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:74091886_74091887insG	ENST00000389156.4	-	11	1318_1319	c.1228_1229insC	c.(1228-1230)cagfs	p.Q410fs	FAM169A_ENST00000380515.3_3'UTR|FAM169A_ENST00000510496.1_Frame_Shift_Ins_p.Q350fs	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	410	Asp/Glu-rich.					membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						TTGCTGTGGCTGGGTTTCCAGT	0.401																																																	0																																										SO:0001589	frameshift_variant	26049				CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.1229dupC	5.37:g.74091889_74091889dupG	ENSP00000373808:p.Gln410fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1T9|Q6MZT0|Q9H989	Frame_Shift_Ins	INS	ENST00000389156.4	37	CCDS43330.1																																																																																				0.401	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			
FAM171B	165215	hgsc.bcm.edu	37	2	187559050	187559050	+	Silent	SNP	A	A	G	rs2370705	byFrequency	TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:187559050A>G	ENST00000304698.5	+	1	353	c.150A>G	c.(148-150)caA>caG	p.Q50Q	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	50	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						agcagcagcaacaacaacaac	0.637																																																	0													25.0	27.0	27.0					2																	187559050		2202	4300	6502	SO:0001819	synonymous_variant	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.150A>G	2.37:g.187559050A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	ENST00000304698.5	37	CCDS33347.1																																																																																				0.637	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1		NM_177454	
FAM193A	8603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2674032	2674032	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:2674032T>C	ENST00000324666.5	+	11	1742	c.1391T>C	c.(1390-1392)gTt>gCt	p.V464A	FAM193A_ENST00000502458.1_Missense_Mutation_p.V486A|FAM193A_ENST00000545951.1_Missense_Mutation_p.V464A|FAM193A_ENST00000505311.1_Missense_Mutation_p.V464A|FAM193A_ENST00000382839.3_Missense_Mutation_p.V464A	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	464								p.V464A(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TTGCACACTGTTCCACACCTG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											150.0	103.0	119.0					4																	2674032		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.1391T>C	4.37:g.2674032T>C	ENSP00000324587:p.Val464Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.030669	0.75504	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.36878	1.24;1.66;1.23;1.24;1.24	4.82	4.82	0.62117	.	0.291939	0.31358	N	0.007791	T	0.29061	0.0722	L	0.29908	0.895	0.32063	N	0.595484	B;P;P;B;B	0.39181	0.341;0.604;0.663;0.218;0.218	B;B;B;B;B	0.37943	0.12;0.258;0.261;0.088;0.088	T	0.43988	-0.9357	10	0.59425	D	0.04	-17.0978	13.8593	0.63550	0.0:0.0:0.0:1.0	.	464;486;464;486;464	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	A	464;464;464;486;318	ENSP00000372290:V464A;ENSP00000324587:V464A;ENSP00000443617:V464A;ENSP00000427505:V486A;ENSP00000427260:V318A	ENSP00000324587:V464A	V	+	2	0	FAM193A	2643830	1.000000	0.71417	0.875000	0.34327	0.927000	0.56198	5.624000	0.67764	1.920000	0.55613	0.528000	0.53228	GTT		0.562	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1		NM_003704	
FAM90A1	55138	hgsc.bcm.edu	37	12	8374781	8374782	+	In_Frame_Ins	INS	-	-	ACG	rs71265055		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:8374781_8374782insACG	ENST00000538603.1	-	7	1589_1590	c.1031_1032insCGT	c.(1030-1032)acg>acCGTg	p.344_345insV	FAM90A1_ENST00000307435.6_In_Frame_Ins_p.344_345insV	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	344				T -> TV (in Ref. 1; BAA91593). {ECO:0000305}.			nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCTGGGGTGACGTACGTGGTCC	0.673														2167	0.432708	0.0802	0.5101	5008	,	,		16505	0.5764		0.6968	False		,,,				2504	0.4346																0										758,3506		60,638,1434						0.0	0.0		dbSNP_130	26	5796,2428		1994,1808,310	no	coding	FAM90A1	NM_018088.3		2054,2446,1744	A1A1,A1R,RR		29.5233,17.7767,47.5176				6554,5934				SO:0001652	inframe_insertion	55138			AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1031_1032insCGT	12.37:g.8374781_8374782insACG	ENSP00000445418:p.Thr344_Ser345insVal	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUU9|Q9NVZ6	In_Frame_Ins	INS	ENST00000538603.1	37	CCDS31738.1																																																																																				0.673	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1		NM_018088	
FBXL4	26235	broad.mit.edu;hgsc.bcm.edu	37	6	99365256	99365256	+	Silent	SNP	A	A	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:99365256A>C	ENST00000369244.2	-	5	1280	c.852T>G	c.(850-852)ccT>ccG	p.P284P	FBXL4_ENST00000229971.1_Silent_p.P284P	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	284	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.P284P(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		TTACCTCATAAGGTAGTTTAT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	86.0	88.0					6																	99365256		2203	4299	6502	SO:0001819	synonymous_variant	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.852T>G	6.37:g.99365256A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Silent	SNP	ENST00000369244.2	37	CCDS5041.1																																																																																				0.353	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2			
FLRT3	23767	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	14307334	14307334	+	Silent	SNP	G	G	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr20:14307334G>C	ENST00000378053.3	-	2	1075	c.819C>G	c.(817-819)ctC>ctG	p.L273L	FLRT3_ENST00000462077.1_5'Flank|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Silent_p.L273L	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	273					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.L273L(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CCAGTCGATAGAGCTGCCTTA	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											48.0	50.0	50.0					20																	14307334		2203	4300	6503	SO:0001819	synonymous_variant	23767			AF169677	CCDS13121.1	20p11	2013-02-11			ENSG00000125848	ENSG00000125848		"""Fibronectin type III domain containing"""	3762	protein-coding gene	gene with protein product		604808				10644439	Standard	NM_198391		Approved		uc002wow.2	Q9NZU0	OTTHUMG00000031914	ENST00000378053.3:c.819C>G	20.37:g.14307334G>C		Somatic		WXS	Illumina HiSeq	Phase_I	D3DW20|Q542Z9|Q96K39|Q96K42|Q96KB1|Q9P259	Silent	SNP	ENST00000378053.3	37	CCDS13121.1																																																																																				0.403	FLRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078075.1		NM_013281	
FLT4	2324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180056415	180056415	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:180056415T>G	ENST00000261937.6	-	7	907	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	FLT4_ENST00000502649.1_Missense_Mutation_p.K277Q|FLT4_ENST00000393347.3_Missense_Mutation_p.K277Q|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	277	Ig-like C2-type 3.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.K277Q(2)|p.K87Q(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCACCCACTTACCCCGCTCT	0.677																																					Colon(97;1075 1466 27033 27547 35871)												3	Substitution - Missense(3)	kidney(3)											102.0	92.0	96.0					5																	180056415		2201	4298	6499	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.829A>C	5.37:g.180056415T>G	ENSP00000261937:p.Lys277Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	T	11.05	1.523616	0.27299	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.26957	1.7;1.7;1.7	4.74	3.49	0.39957	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16642	0.0400	L	0.34521	1.04	0.09310	N	1	B;B;B	0.20887	0.049;0.004;0.004	B;B;B	0.20384	0.029;0.016;0.016	T	0.13656	-1.0501	9	0.27082	T	0.32	.	4.1276	0.10134	0.0:0.138:0.2077:0.6542	.	277;277;277	P35916-3;E9PD35;P35916	.;.;VGFR3_HUMAN	Q	277;277;277;87	ENSP00000261937:K277Q;ENSP00000377016:K277Q;ENSP00000426057:K277Q	ENSP00000261937:K277Q	K	-	1	0	FLT4	179989021	0.009000	0.17119	0.996000	0.52242	0.978000	0.69477	0.650000	0.24858	1.910000	0.55303	0.459000	0.35465	AAG		0.677	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			
FN1	2335	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	216262451	216262451	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:216262451T>C	ENST00000359671.1	-	22	3734	c.3469A>G	c.(3469-3471)Aga>Gga	p.R1157G	FN1_ENST00000421182.1_Missense_Mutation_p.R1157G|FN1_ENST00000345488.5_Missense_Mutation_p.R1157G|FN1_ENST00000446046.1_Missense_Mutation_p.R1157G|FN1_ENST00000443816.1_Missense_Mutation_p.R1157G|FN1_ENST00000356005.4_Missense_Mutation_p.R1157G|FN1_ENST00000354785.4_Missense_Mutation_p.R1157G|FN1_ENST00000323926.6_Missense_Mutation_p.R1157G|FN1_ENST00000336916.4_Missense_Mutation_p.R1157G|FN1_ENST00000432072.2_Missense_Mutation_p.R1157G|FN1_ENST00000346544.3_Missense_Mutation_p.R1157G|FN1_ENST00000357009.2_Missense_Mutation_p.R1157G|FN1_ENST00000357867.4_Missense_Mutation_p.R1157G			P02751	FINC_HUMAN	fibronectin 1	1157	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.R1157G(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TGTCCATCTCTCAGGACTTGG	0.438																																																	2	Substitution - Missense(2)	kidney(2)											181.0	165.0	171.0					2																	216262451		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3469A>G	2.37:g.216262451T>C	ENSP00000352696:p.Arg1157Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	T	10.61	1.398398	0.25205	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.78	3.21	0.36854	.	0.312835	0.30473	N	0.009550	T	0.41419	0.1158	N	0.08118	0	0.23889	N	0.996558	P;B;P;B;P;B;P;B;B;P	0.48911	0.917;0.125;0.756;0.101;0.786;0.209;0.772;0.119;0.202;0.523	P;B;P;B;P;B;P;B;B;B	0.52217	0.693;0.133;0.583;0.131;0.602;0.236;0.464;0.185;0.185;0.273	T	0.33828	-0.9853	10	0.25751	T	0.34	.	13.3425	0.60553	0.0:0.0:0.2442:0.7558	.	1157;1157;1157;1157;1157;1157;1157;1157;1157;1157	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	G	1157	ENSP00000394423:R1157G;ENSP00000323534:R1157G;ENSP00000338200:R1157G;ENSP00000350534:R1157G;ENSP00000346839:R1157G;ENSP00000352696:R1157G;ENSP00000265312:R1157G;ENSP00000273049:R1157G;ENSP00000349509:R1157G;ENSP00000410422:R1157G;ENSP00000415018:R1157G;ENSP00000399538:R1157G;ENSP00000348285:R1157G	ENSP00000265313:R1157G	R	-	1	2	FN1	215970696	0.683000	0.27633	0.783000	0.31826	0.437000	0.31866	1.984000	0.40658	1.086000	0.41228	0.482000	0.46254	AGA		0.438	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476	
FRMD7	90167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	131212433	131212433	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chrX:131212433T>G	ENST00000298542.4	-	12	1787	c.1612A>C	c.(1612-1614)Atc>Ctc	p.I538L	FRMD7_ENST00000370879.1_Missense_Mutation_p.I418L|FRMD7_ENST00000464296.1_Missense_Mutation_p.I523L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	538					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.I538L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCATTCTGATATTCCTTGGG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											168.0	162.0	164.0					X																	131212433		2203	4300	6503	SO:0001583	missense	90167			AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1612A>C	X.37:g.131212433T>G	ENSP00000298542:p.Ile538Leu	Somatic		WXS	Illumina HiSeq	Phase_I	C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	T	8.655	0.899060	0.17686	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.85955	-2.05;-1.71;-1.82	5.27	-1.15	0.09709	.	0.848079	0.10574	N	0.658813	T	0.67674	0.2918	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.50693	-0.8798	10	0.23891	T	0.37	.	1.9857	0.03436	0.1103:0.1884:0.2222:0.4791	.	523;538	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	L	418;538;523	ENSP00000359916:I418L;ENSP00000298542:I538L;ENSP00000417996:I523L	ENSP00000298542:I538L	I	-	1	0	FRMD7	131040114	0.000000	0.05858	0.754000	0.31244	0.951000	0.60555	-0.826000	0.04429	0.057000	0.16193	0.486000	0.48141	ATC		0.483	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1		NM_194277	
GABRR1	2569	hgsc.bcm.edu	37	6	89888680	89888680	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:89888680C>G	ENST00000454853.2	-	10	1359	c.1249G>C	c.(1249-1251)Gga>Cga	p.G417R	GABRR1_ENST00000369451.3_Missense_Mutation_p.G330R|GABRR1_ENST00000435811.1_Missense_Mutation_p.G400R	NM_001256704.1|NM_002042.4	NP_001243633.1|NP_002033.2	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	417					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.G411R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GGCTTCTCTCCATTCTCTGGC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											176.0	157.0	163.0					6																	89888680		2203	4300	6503	SO:0001583	missense	2569				CCDS5019.2, CCDS59028.1, CCDS59029.1	6q15	2012-06-22	2012-02-03		ENSG00000146276	ENSG00000146276		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4090	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 1"""	137161	"""gamma-aminobutyric acid (GABA) receptor, rho 1"""			1849271, 1315307	Standard	NM_002042		Approved		uc003pna.2	P24046	OTTHUMG00000015195	ENST00000454853.2:c.1249G>C	6.37:g.89888680C>G	ENSP00000412673:p.Gly417Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A1L401|B4DJK8|B4DQT5|B7ZBQ7|Q9BX06	Missense_Mutation	SNP	ENST00000454853.2	37	CCDS5019.2	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984996	0.53934	.	.	ENSG00000146276	ENST00000454853;ENST00000435811;ENST00000369451;ENST00000436331	D;D;D	0.84589	-1.87;-1.87;-1.87	5.65	5.65	0.86999	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.047742	0.85682	D	0.000000	D	0.83427	0.5252	L	0.38175	1.15	0.80722	D	1	P;P	0.50443	0.935;0.91	P;P	0.54431	0.565;0.752	T	0.81459	-0.0923	9	.	.	.	-11.2033	19.7272	0.96168	0.0:1.0:0.0:0.0	.	400;417	P24046-2;P24046	.;GBRR1_HUMAN	R	417;400;330;330	ENSP00000412673:G417R;ENSP00000394687:G400R;ENSP00000358463:G330R	.	G	-	1	0	GABRR1	89945399	1.000000	0.71417	0.226000	0.23910	0.068000	0.16541	7.818000	0.86416	2.646000	0.89796	0.655000	0.94253	GGA		0.567	GABRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041479.2			
GINS3	64785	hgsc.bcm.edu	37	16	58438630	58438630	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:58438630delC	ENST00000318129.5	+	3	856	c.648delC	c.(646-648)gacfs	p.D216fs	GINS3_ENST00000426538.2_Frame_Shift_Del_p.D255fs|GINS3_ENST00000328514.7_Frame_Shift_Del_p.D138fs	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	216					DNA replication (GO:0006260)	nucleus (GO:0005634)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						ATATGGAAGACTGAAAGCCGG	0.478																																																	0													31.0	30.0	30.0					16																	58438630		2198	4300	6498	SO:0001589	frameshift_variant	64785			BC005879	CCDS10796.1, CCDS45498.1, CCDS45499.1	16q21	2008-02-05			ENSG00000181938	ENSG00000181938			25851	protein-coding gene	gene with protein product		610610				12477932	Standard	NM_022770		Approved	FLJ13912, PSF3	uc010cdj.3	Q9BRX5	OTTHUMG00000133486	ENST00000318129.5:c.648delC	16.37:g.58438630delC	ENSP00000318196:p.Asp216fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDP3|E9PB21|Q9H870	Frame_Shift_Del	DEL	ENST00000318129.5	37	CCDS10796.1																																																																																				0.478	GINS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257384.2		NM_022770	
GOLGA6L5P	374650	broad.mit.edu	37	15	85055754	85055756	+	RNA	DEL	CTC	CTC	-			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr15:85055754_85055756delCTC	ENST00000560239.1	-	0	984				GOLGA6L5_ENST00000414190.2_RNA																							CACGTAGCCTCTCCTCCTGTTCA	0.547																																																	0																																												374650																															15.37:g.85055757_85055759delCTC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000560239.1	37																																																																																					0.547	RP11-182J1.12-001	KNOWN	mRNA_end_NF|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000418581.1			
GPR78	27201	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	8584304	8584304	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:8584304G>A	ENST00000382487.4	+	2	1132	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	239					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A239P(1)|p.A239T(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCGCCACCGCGCCACCAGGAA	0.622																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											129.0	108.0	115.0					4																	8584304		2203	4300	6503	SO:0001583	missense	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.715G>A	4.37:g.8584304G>A	ENSP00000371927:p.Ala239Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882525	0.72294	.	.	ENSG00000155269	ENST00000382487	T	0.38077	1.16	2.33	2.33	0.28932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000002	T	0.51432	0.1674	L	0.56199	1.76	0.47407	D	0.999418	D	0.89917	1.0	D	0.79784	0.993	T	0.55108	-0.8192	10	0.87932	D	0	.	11.6225	0.51126	0.0:0.0:1.0:0.0	.	239	Q96P69	GPR78_HUMAN	T	239	ENSP00000371927:A239T	ENSP00000371927:A239T	A	+	1	0	GPR78	8635204	1.000000	0.71417	0.002000	0.10522	0.006000	0.05464	7.291000	0.78721	1.118000	0.41863	0.563000	0.77884	GCC		0.622	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			
HOXB1	3211	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	46608210	46608210	+	Silent	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr17:46608210G>T	ENST00000239174.6	-	1	149	c.57C>A	c.(55-57)ccC>ccA	p.P19P	HOXB1_ENST00000577092.1_Silent_p.P19P	NM_002144.3	NP_002135.2	P14653	HXB1_HUMAN	homeobox B1	19					anatomical structure formation involved in morphogenesis (GO:0048646)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|facial nucleus development (GO:0021754)|multicellular organismal development (GO:0007275)|pattern specification process (GO:0007389)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhombomere 4 development (GO:0021570)|rhombomere 5 development (GO:0021571)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)	p.P19P(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGTAGGCGCTGGGTCCCCGGT	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	72.0	69.0					17																	46608210		2203	4300	6503	SO:0001819	synonymous_variant	3211				CCDS32675.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120094	ENSG00000120094		"""Homeoboxes / ANTP class : HOXL subclass"""	5111	protein-coding gene	gene with protein product		142968	"""homeo box B1"""	HOX2, HOX2I		1973146, 1358459	Standard	NM_002144		Approved		uc002ink.1	P14653	OTTHUMG00000159929	ENST00000239174.6:c.57C>A	17.37:g.46608210G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q4VB03	Silent	SNP	ENST00000239174.6	37	CCDS32675.1																																																																																				0.632	HOXB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358383.3			
HRC	3270	hgsc.bcm.edu	37	19	49657177	49657178	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr19:49657177_49657178insG	ENST00000252825.4	-	1	1503_1504	c.1317_1318insC	c.(1315-1320)cccagcfs	p.S440fs	HRC_ENST00000595625.1_Frame_Shift_Ins_p.S440fs	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	440					cytosolic calcium ion homeostasis (GO:0051480)|muscle contraction (GO:0006936)|positive regulation of heart contraction (GO:0045823)|positive regulation of heart rate (GO:0010460)|positive regulation of relaxation of cardiac muscle (GO:1901899)|regulation of calcium ion transmembrane transport (GO:1903169)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TGCCTGTGGCTGGGGGCCTGGT	0.55																																					Melanoma(37;75 1097 24567 25669 30645)												0										16,4248		0,16,2116						2.0	0.1			97	24,8228		0,24,4102	no	frameshift	HRC	NM_002152.2		0,40,6218	A1A1,A1R,RR		0.2908,0.3752,0.3196				40,12476				SO:0001589	frameshift_variant	3270				CCDS12759.1	19q13.3	2008-07-16	2001-11-28			ENSG00000130528			5178	protein-coding gene	gene with protein product		142705	"""histidine-rich calcium-binding protein"""			2037293	Standard	XR_243928		Approved	MGC133236	uc002pmv.3	P23327		ENST00000252825.4:c.1318dupC	19.37:g.49657182_49657182dupG	ENSP00000252825:p.Ser440fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q504Y6	Frame_Shift_Ins	INS	ENST00000252825.4	37	CCDS12759.1																																																																																				0.550	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1		NM_002152	
IL16	3603	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	81589274	81589274	+	Silent	SNP	G	G	A	rs374086303		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr15:81589274G>A	ENST00000302987.4	+	12	1908	c.1908G>A	c.(1906-1908)gcG>gcA	p.A636A	IL16_ENST00000394660.2_Silent_p.A636A|IL16_ENST00000394652.2_5'UTR			Q14005	IL16_HUMAN	interleukin 16	636					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A636A(1)|p.A590A(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACAGGAAGCGAGAGAGCTGC	0.567																																																	2	Substitution - coding silent(2)	kidney(2)						C	,,	0,3892		0,0,1946	21.0	26.0	24.0		1908,,1908	2.5	1.0	15		24	1,8295		0,1,4147	no	coding-synonymous,utr-5,coding-synonymous	IL16	NM_001172128.1,NM_004513.5,NM_172217.3	,,	0,1,6093	AA,AG,GG		0.0121,0.0,0.0082	,,	636/1332,,636/1333	81589274	1,12187	1946	4148	6094	SO:0001819	synonymous_variant	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1908G>A	15.37:g.81589274G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	CCDS42069.1																																																																																				0.567	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1		NM_172217	
ILF3	3609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	10799269	10799269	+	Silent	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr19:10799269C>T	ENST00000590261.1	+	18	2466	c.2466C>T	c.(2464-2466)ggC>ggT	p.G822G	ILF3_ENST00000588657.1_Silent_p.G826G|ILF3_ENST00000449870.1_Silent_p.G826G|ILF3_ENST00000318511.3_Silent_p.G822G|ILF3_ENST00000586544.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	822	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G822G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAGCTACGGCTCAGGCGGGG	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											55.0	66.0	63.0					19																	10799269		2203	4300	6503	SO:0001819	synonymous_variant	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2466C>T	19.37:g.10799269C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	37	CCDS12246.1																																																																																				0.647	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			
KIAA1217	56243	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	24834980	24834980	+	Silent	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr10:24834980C>A	ENST00000376454.3	+	21	5589	c.5559C>A	c.(5557-5559)ctC>ctA	p.L1853L	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376452.3_Silent_p.L1284L|KIAA1217_ENST00000376462.1_Silent_p.L1174L|KIAA1217_ENST00000458595.1_Silent_p.L1259L	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1853	Ser-rich. {ECO:0000255}.				embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.L1853L(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGCCTCCCTCATCCCTTCTG	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											173.0	177.0	176.0					10																	24834980		2203	4300	6503	SO:0001819	synonymous_variant	56243			BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.5559C>A	10.37:g.24834980C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	CCDS31165.1																																																																																				0.502	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590	
KIF13A	63971	broad.mit.edu;ucsc.edu	37	6	17898399	17898399	+	Splice_Site	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:17898399C>T	ENST00000259711.6	-	3	264	c.159G>A	c.(157-159)aaG>aaA	p.K53K	KIF13A_ENST00000378814.5_Splice_Site_p.K53K|KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378826.2_Splice_Site_p.K53K|KIF13A_ENST00000378843.2_Splice_Site_p.K53K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	53	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K53K(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TAGTGCTTACCTTGGGAGGTT	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	94.0	95.0					6																	17898399		1846	4093	5939	SO:0001630	splice_region_variant	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.159+1G>A	6.37:g.17898399C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Silent	SNP	ENST00000259711.6	37	CCDS47381.1																																																																																				0.403	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			Silent
KIF2B	84643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	51900736	51900736	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr17:51900736A>C	ENST00000268919.4	+	1	498	c.342A>C	c.(340-342)aaA>aaC	p.K114N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K114N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCGCCACGAAATGGGTTGCGA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											75.0	80.0	79.0					17																	51900736		2203	4300	6503	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.342A>C	17.37:g.51900736A>C	ENSP00000268919:p.Lys114Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	0.037	-1.302257	0.01353	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.74002	-0.8	5.11	-3.14	0.05250	.	1.354900	0.05622	N	0.580075	T	0.50803	0.1637	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.29305	-1.0016	10	0.10111	T	0.7	.	1.1922	0.01867	0.3503:0.2517:0.2696:0.1283	.	114	Q8N4N8	KIF2B_HUMAN	N	114;37	ENSP00000268919:K114N	ENSP00000268919:K114N	K	+	3	2	KIF2B	49255735	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.227000	0.09126	-0.213000	0.10094	-0.242000	0.12053	AAA		0.597	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1		NM_032559	
KLC1	3831	hgsc.bcm.edu;ucsc.edu	37	14	104129226	104129226	+	Silent	SNP	C	C	T	rs200653403		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr14:104129226C>T	ENST00000348520.6	+	5	1078	c.759C>T	c.(757-759)gaC>gaT	p.D253D	KLC1_ENST00000347839.6_Silent_p.D253D|KLC1_ENST00000246489.7_Silent_p.D253D|KLC1_ENST00000557575.1_Silent_p.D253D|KLC1_ENST00000334553.6_Silent_p.D253D|KLC1_ENST00000445352.4_Silent_p.D253D|KLC1_ENST00000554280.1_Silent_p.D253D|KLC1_ENST00000452929.2_Silent_p.D253D|KLC1_ENST00000555836.1_Silent_p.D253D|RP11-73M18.2_ENST00000472726.2_Silent_p.D425D|KLC1_ENST00000380038.3_Silent_p.D253D|KLC1_ENST00000553286.1_Silent_p.D253D|KLC1_ENST00000557450.1_Silent_p.D253D|KLC1_ENST00000389744.4_Silent_p.D253D	NM_182923.3	NP_891553.2	Q07866	KLC1_HUMAN	kinesin light chain 1	253					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|stress granule disassembly (GO:0035617)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|growth cone (GO:0030426)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D253D(2)	KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				ACCACCCGGACGTGGCCACCA	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14765	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)											48.0	37.0	41.0					14																	104129226		2203	4300	6503	SO:0001819	synonymous_variant	3831			AF267530	CCDS32165.1, CCDS41996.1, CCDS45168.1	14q32.3	2013-01-10	2007-03-09	2007-03-09	ENSG00000126214	ENSG00000126214		"""Tetratricopeptide (TTC) repeat domain containing"""	6387	protein-coding gene	gene with protein product		600025	"""kinesin 2 60/70kDa"", ""kinesin 2"""	KNS2		8274221, 11106729	Standard	NM_005552		Approved	KNS2A, KLC, hKLC1S, hKLC1N, hKLC1P, hKLC1G, hKLC1R, hKLC1J, hKLC1B	uc010tyf.2	Q07866	OTTHUMG00000169227	ENST00000348520.6:c.759C>T	14.37:g.104129226C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NF62|F8VTM4|Q7RTM2|Q7RTM3|Q7RTM5|Q7RTP9|Q7RTQ3|Q7RTQ5|Q7RTQ6|Q86SF5|Q86TF5|Q86V74|Q86V75|Q86V76|Q86V77|Q86V78|Q86V79|Q96H62	Silent	SNP	ENST00000348520.6	37	CCDS41996.1																																																																																				0.542	KLC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402947.2		NM_005552	
KRT85	3891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52756641	52756641	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:52756641G>T	ENST00000257901.3	-	6	1149	c.1074C>A	c.(1072-1074)tgC>tgA	p.C358*	KRT85_ENST00000544265.1_Nonsense_Mutation_p.C146*	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	358	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.C358*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		ACCCCACCTGGCACTTGGCAT	0.597																																																	1	Substitution - Nonsense(1)	kidney(1)											134.0	111.0	119.0					12																	52756641		2203	4300	6503	SO:0001587	stop_gained	3891			X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.1074C>A	12.37:g.52756641G>T	ENSP00000257901:p.Cys358*	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NSB1	Nonsense_Mutation	SNP	ENST00000257901.3	37	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307723	0.81247	.	.	ENSG00000135443	ENST00000257901;ENST00000544265	.	.	.	4.49	2.6	0.31112	.	0.092556	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	2.4354	0.04481	0.225:0.1309:0.5098:0.1343	.	.	.	.	X	358;146	.	ENSP00000257901:C358X	C	-	3	2	KRT85	51042908	0.011000	0.17503	1.000000	0.80357	0.959000	0.62525	0.094000	0.15107	1.117000	0.41842	0.561000	0.74099	TGC		0.597	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1		NM_002283	
KRT1	3848	broad.mit.edu;ucsc.edu	37	12	53069018	53069018	+	Missense_Mutation	SNP	C	C	T	rs532003323		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:53069018C>T	ENST00000252244.3	-	9	1952	c.1894G>A	c.(1894-1896)Gtg>Atg	p.V632M		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	632	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.V632M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ACAAACTTCACGCTGGAACTG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		13550	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											93.0	102.0	99.0					12																	53069018		2203	4300	6503	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1894G>A	12.37:g.53069018C>T	ENSP00000252244:p.Val632Met	Somatic		WXS	Illumina GAIIx	Phase_I	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	5.184	0.219543	0.09863	.	.	ENSG00000167768	ENST00000252244	D	0.83992	-1.79	3.52	2.62	0.31277	.	.	.	.	.	T	0.67297	0.2878	N	0.08118	0	0.27696	N	0.945938	D	0.58268	0.982	B	0.44085	0.44	T	0.61123	-0.7126	9	0.66056	D	0.02	.	6.9173	0.24367	0.0:0.777:0.0:0.223	.	632	P04264	K2C1_HUMAN	M	632	ENSP00000252244:V632M	ENSP00000252244:V632M	V	-	1	0	KRT1	51355285	.	.	0.989000	0.46669	0.453000	0.32348	.	.	0.830000	0.34757	0.313000	0.20887	GTG		0.557	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1		NM_006121	
KRTAP13-2	337959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	31744251	31744251	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr21:31744251G>A	ENST00000399889.2	-	1	306	c.281C>T	c.(280-282)aCg>aTg	p.T94M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	94	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.T94M(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGAGTAAGTCGTCTTGCAAGG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											62.0	61.0	62.0					21																	31744251		2203	4300	6503	SO:0001583	missense	337959			AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.281C>T	21.37:g.31744251G>A	ENSP00000382777:p.Thr94Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000399889.2	37	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504543	0.44558	.	.	ENSG00000182816	ENST00000399889	T	0.03663	3.85	4.57	-5.79	0.02354	.	0.716625	0.11867	N	0.521762	T	0.04363	0.0120	M	0.64997	1.995	0.09310	N	1	D	0.56035	0.974	P	0.46237	0.508	T	0.02966	-1.1088	10	0.59425	D	0.04	.	1.8824	0.03231	0.3431:0.3485:0.1882:0.1202	.	94	Q52LG2	KR132_HUMAN	M	94	ENSP00000382777:T94M	ENSP00000382777:T94M	T	-	2	0	KRTAP13-2	30666122	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-0.412000	0.07132	-1.134000	0.02899	0.655000	0.94253	ACG		0.617	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)																																								SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1		NM_033060	
LATS1	9113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	150004564	150004564	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:150004564C>T	ENST00000543571.1	-	4	2208	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	LATS1_ENST00000392273.3_Missense_Mutation_p.G554E|LATS1_ENST00000253339.5_Missense_Mutation_p.G554E|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.G554E(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGGTGGTGGTCCTTGATAGTT	0.493																																																	2	Substitution - Missense(2)	kidney(2)											190.0	156.0	168.0					6																	150004564		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.1661G>A	6.37:g.150004564C>T	ENSP00000437550:p.Gly554Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000543571.1	37	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747386	0.69533	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.51071	0.72;0.72;3.27	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000014	T	0.60753	0.2293	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.979;1.0;0.979	T	0.55179	-0.8181	9	.	.	.	.	19.8134	0.96556	0.0:1.0:0.0:0.0	.	406;554;554	Q59FN4;O95835-2;O95835	.;.;LATS1_HUMAN	E	554	ENSP00000437550:G554E;ENSP00000253339:G554E;ENSP00000444678:G554E	.	G	-	2	0	LATS1	150046257	1.000000	0.71417	0.983000	0.44433	0.990000	0.78478	7.252000	0.78309	2.767000	0.95098	0.655000	0.94253	GGA		0.493	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4		NM_004690	
LONRF3	79836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	118140161	118140161	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chrX:118140161A>G	ENST00000371628.3	+	6	1524	c.1493A>G	c.(1492-1494)aAc>aGc	p.N498S	LONRF3_ENST00000422289.2_Missense_Mutation_p.N242S|LONRF3_ENST00000304778.7_Missense_Mutation_p.N457S|LONRF3_ENST00000472173.1_3'UTR	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	498							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)	p.N457S(1)|p.N498S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTAGATCACAACGCAAAGTGT	0.348																																																	2	Substitution - Missense(2)	kidney(2)											225.0	208.0	214.0					X																	118140161		2203	4300	6503	SO:0001583	missense	79836			AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.1493A>G	X.37:g.118140161A>G	ENSP00000360690:p.Asn498Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JPN6|Q8NB00|Q9H647	Missense_Mutation	SNP	ENST00000371628.3	37	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	A	13.80	2.346669	0.41599	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628;ENST00000422289	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.68	5.68	0.88126	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.07683	0.0193	N	0.02685	-0.53	0.49130	D	0.999755	B;B;P	0.42123	0.392;0.094;0.771	B;B;B	0.41135	0.241;0.108;0.348	T	0.29518	-1.0009	10	0.06625	T	0.88	-38.807	13.9895	0.64357	1.0:0.0:0.0:0.0	.	242;457;498	B3KUN7;Q496Y0-2;Q496Y0	.;.;LONF3_HUMAN	S	457;457;498;242	ENSP00000360691:N457S;ENSP00000307732:N457S;ENSP00000360690:N498S;ENSP00000408894:N242S	ENSP00000307732:N457S	N	+	2	0	LONRF3	118024189	1.000000	0.71417	0.889000	0.34880	0.983000	0.72400	6.118000	0.71583	1.901000	0.55032	0.481000	0.45027	AAC		0.348	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2		NM_024778	
LRRC3B	116135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	26751684	26751684	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:26751684C>A	ENST00000396641.2	+	2	1113	c.521C>A	c.(520-522)aCg>aAg	p.T174K	LRRC3B_ENST00000456208.2_Missense_Mutation_p.T174K|LRRC3B_ENST00000417744.1_Missense_Mutation_p.T174K|AC114877.3_ENST00000446601.1_lincRNA	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	174	LRRCT.					integral component of membrane (GO:0016021)		p.T174K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						ATCTGTAAAACGTCCGTGTTG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											74.0	61.0	65.0					3																	26751684		2203	4300	6503	SO:0001583	missense	116135			AF396933	CCDS2644.1	3p24	2004-07-12			ENSG00000179796	ENSG00000179796			28105	protein-coding gene	gene with protein product							Standard	NM_052953		Approved	LRP15	uc003cdp.3	Q96PB8	OTTHUMG00000130572	ENST00000396641.2:c.521C>A	3.37:g.26751684C>A	ENSP00000379880:p.Thr174Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5M8T0	Missense_Mutation	SNP	ENST00000396641.2	37	CCDS2644.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359670	0.61403	.	.	ENSG00000179796	ENST00000396641;ENST00000417744;ENST00000456208	D;D;D	0.90261	-2.64;-2.64;-2.64	6.17	6.17	0.99709	.	0.042026	0.85682	D	0.000000	D	0.93242	0.7847	L	0.46819	1.47	0.58432	D	0.999992	D	0.67145	0.996	P	0.61132	0.884	D	0.92681	0.6158	10	0.56958	D	0.05	-17.1217	19.8676	0.96824	0.0:1.0:0.0:0.0	.	174	Q96PB8	LRC3B_HUMAN	K	174	ENSP00000379880:T174K;ENSP00000406370:T174K;ENSP00000394940:T174K	ENSP00000379880:T174K	T	+	2	0	LRRC3B	26726688	1.000000	0.71417	0.973000	0.42090	0.716000	0.41182	6.334000	0.72944	2.941000	0.99782	0.655000	0.94253	ACG		0.498	LRRC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252997.2		NM_052953	
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75650634	75650634	+	Missense_Mutation	SNP	C	C	G	rs150703780		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr15:75650634C>G	ENST00000267978.5	-	21	2501	c.2455G>C	c.(2455-2457)Gtg>Ctg	p.V819L	MAN2C1_ENST00000565683.1_Missense_Mutation_p.V836L|RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000569482.1_Missense_Mutation_p.V819L|MAN2C1_ENST00000563622.1_Missense_Mutation_p.V720L	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	819					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.V819L(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GAACTCCGCACGCGAGCAGGG	0.577																																																	1	Substitution - Missense(1)	kidney(1)						C	LEU/VAL	0,4394		0,0,2197	102.0	86.0	92.0		2455	4.8	0.9	15	dbSNP_134	92	1,8587	1.2+/-3.3	0,1,4293	no	missense	MAN2C1	NM_006715.2	32	0,1,6490	GG,GC,CC		0.0116,0.0,0.0077	benign	819/1041	75650634	1,12981	2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2455G>C	15.37:g.75650634C>G	ENSP00000267978:p.Val819Leu	Somatic		WXS	Illumina HiSeq	Phase_I	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.366012	0.61513	0.0	1.16E-4	ENSG00000140400	ENST00000267978	T	0.77489	-1.1	5.72	4.79	0.61399	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.111425	0.64402	D	0.000012	T	0.77772	0.4180	M	0.63428	1.95	0.50171	D	0.99985	B;B	0.23591	0.052;0.088	B;B	0.33750	0.075;0.169	T	0.74490	-0.3648	10	0.39692	T	0.17	-20.172	14.245	0.65983	0.0:0.9272:0.0:0.0728	.	819;819	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	L	819	ENSP00000267978:V819L	ENSP00000267978:V819L	V	-	1	0	MAN2C1	73437687	0.994000	0.37717	0.920000	0.36463	0.702000	0.40608	3.179000	0.50887	1.391000	0.46566	0.561000	0.74099	GTG		0.577	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			
MED23	9439	broad.mit.edu	37	6	131931276	131931276	+	Silent	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr6:131931276G>T	ENST00000368068.3	-	11	1166	c.987C>A	c.(985-987)ctC>ctA	p.L329L	MED23_ENST00000354577.4_Silent_p.L335L|MED23_ENST00000540546.1_Silent_p.L335L|MED23_ENST00000368053.4_Silent_p.L335L|MED23_ENST00000403834.3_Silent_p.L335L|MED23_ENST00000545957.1_Silent_p.L18L|MED23_ENST00000368060.3_Silent_p.L329L|MED23_ENST00000539158.1_Silent_p.L329L|MED23_ENST00000368058.1_Silent_p.L335L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	329					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.L335L(1)|p.L329L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GCTGCCACAGGAGTTGGCTTG	0.483																																																	2	Substitution - coding silent(2)	kidney(2)											128.0	123.0	125.0					6																	131931276		2203	4300	6503	SO:0001819	synonymous_variant	9439			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.987C>A	6.37:g.131931276G>T		Somatic		WXS	Illumina GAIIx	Phase_I	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	ENST00000368068.3	37	CCDS5147.1																																																																																				0.483	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042215.1			
MFAP3	4238	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153432673	153432673	+	Silent	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:153432673C>T	ENST00000436816.1	+	3	708	c.489C>T	c.(487-489)ctC>ctT	p.L163L	MFAP3_ENST00000439768.2_Silent_p.L17L|MFAP3_ENST00000322602.5_Silent_p.L163L	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	163					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L163L(1)		breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CAATCACACTCATCTTGAATG	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	107.0	114.0					5																	153432673		2203	4300	6503	SO:0001819	synonymous_variant	4238				CCDS4324.1, CCDS47319.1	5q32-q33.2	2013-01-11			ENSG00000037749	ENSG00000037749		"""Immunoglobulin superfamily / I-set domain containing"""	7034	protein-coding gene	gene with protein product		600491				7782085	Standard	NM_005927		Approved		uc010jib.2	P55082	OTTHUMG00000130149	ENST00000436816.1:c.489C>T	5.37:g.153432673C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDK0|B4DKA1|Q9NXA7	Silent	SNP	ENST00000436816.1	37	CCDS4324.1																																																																																				0.458	MFAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252457.2		NM_005927	
KMT2E	55904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	104719411	104719411	+	Splice_Site	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr7:104719411G>A	ENST00000311117.3	+	12	1793		c.e12+1		KMT2E_ENST00000476671.1_Splice_Site|KMT2E_ENST00000334914.7_Splice_Site|KMT2E_ENST00000334877.4_Splice_Site|KMT2E_ENST00000257745.4_Splice_Site	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E						cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.?(1)									CAATGCAGAGGTAAGCTTATA	0.443																																																	1	Unknown(1)	kidney(1)											88.0	85.0	86.0					7																	104719411		2203	4300	6503	SO:0001630	splice_region_variant	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.1248+1G>A	7.37:g.104719411G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Splice_Site	SNP	ENST00000311117.3	37	CCDS34723.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677332	0.88445	.	.	ENSG00000005483	ENST00000311117;ENST00000393656;ENST00000334877;ENST00000351043;ENST00000257745;ENST00000478990;ENST00000476671;ENST00000537308	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7557	0.96287	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLL5	104506647	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	9.869000	0.99810	2.681000	0.91329	0.313000	0.20887	.		0.443	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			Intron
MORC4	79710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	106186437	106186437	+	Splice_Site	SNP	T	T	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chrX:106186437T>A	ENST00000355610.4	-	15	1960		c.e15-2		MORC4_ENST00000255495.7_Splice_Site|MORC4_ENST00000535534.1_Splice_Site	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4							nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.?(2)		endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TTGTACTTACTGCAAGAAGAG	0.423																																																	2	Unknown(2)	kidney(2)											61.0	63.0	63.0					X																	106186437		2200	4295	6495	SO:0001630	splice_region_variant	79710			AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1686-2A>T	X.37:g.106186437T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Splice_Site	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	T	13.93	2.382494	0.42207	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.4803	0.44689	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MORC4	106073093	1.000000	0.71417	0.947000	0.38551	0.883000	0.51084	4.026000	0.57232	1.743000	0.51761	0.441000	0.28932	.		0.423	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3		NM_024657	Intron
MYO3B	140469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	171243748	171243748	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:171243748A>G	ENST00000408978.4	+	14	1650	c.1507A>G	c.(1507-1509)Act>Gct	p.T503A	MYO3B_ENST00000334231.6_Missense_Mutation_p.T512A|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.T503A	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	503	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.T503A(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTTTACACCAACTGGAGTTGT	0.433																																																	2	Substitution - Missense(2)	kidney(2)											92.0	88.0	89.0					2																	171243748		1876	4126	6002	SO:0001583	missense	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1507A>G	2.37:g.171243748A>G	ENSP00000386213:p.Thr503Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.021821	0.35701	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.044045	0.85682	D	0.000000	T	0.79353	0.4431	N	0.20401	0.57	0.54753	D	0.999989	B;B;B	0.24882	0.036;0.113;0.044	B;B;B	0.26517	0.016;0.07;0.058	T	0.74583	-0.3617	10	0.17369	T	0.5	.	16.3245	0.82970	1.0:0.0:0.0:0.0	.	503;503;503	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	A	503;503;502;512;512	ENSP00000386497:T503A;ENSP00000386213:T503A;ENSP00000446237:T512A;ENSP00000335100:T512A	ENSP00000314213:T502A	T	+	1	0	MYO3B	170951994	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	6.288000	0.72679	2.254000	0.74563	0.460000	0.39030	ACT		0.433	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1			
NR4A3	8013	broad.mit.edu	37	9	102591255	102591255	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr9:102591255G>A	ENST00000395097.2	+	3	1660	c.931G>A	c.(931-933)Ggc>Agc	p.G311S	NR4A3_ENST00000330847.1_Missense_Mutation_p.G322S|NR4A3_ENST00000338488.4_Missense_Mutation_p.G311S	NM_006981.3|NM_173200.2	NP_008912.2|NP_775292.1	Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	311					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.G322S(1)|p.G311S(1)	TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				AACCTGCGAGGGCTGCAAGGG	0.677			T	EWSR1	extraskeletal myxoid chondrosarcoma																																			Dom	yes		9	9q22	8013	"""nuclear receptor subfamily 4, group A, member 3 (NOR1)"""		M	2	Substitution - Missense(2)	kidney(2)											8.0	8.0	8.0					9																	102591255		2112	4147	6259	SO:0001583	missense	8013			U12767	CCDS6742.1, CCDS6743.1, CCDS6744.1	9q22	2013-01-16			ENSG00000119508	ENSG00000119508		"""Nuclear hormone receptors"""	7982	protein-coding gene	gene with protein product		600542				8614405	Standard	NM_006981		Approved	CSMF, CHN, NOR1, MINOR	uc004baf.1	Q92570	OTTHUMG00000021030	ENST00000395097.2:c.931G>A	9.37:g.102591255G>A	ENSP00000378531:p.Gly311Ser	Somatic		WXS	Illumina GAIIx	Phase_I	A2A3I7|Q12935|Q14979|Q16420|Q4VXA8|Q4VXA9|Q9UEK2|Q9UEK3	Missense_Mutation	SNP	ENST00000395097.2	37	CCDS6743.1	.	.	.	.	.	.	.	.	.	.	G	33	5.230343	0.95207	.	.	ENSG00000119508	ENST00000395097;ENST00000338488;ENST00000395096;ENST00000330847	D;D;D	0.96913	-4.17;-4.17;-4.17	4.89	3.99	0.46301	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.148182	0.64402	D	0.000009	D	0.97757	0.9264	M	0.79614	2.46	0.80722	D	1	B;D;D	0.89917	0.053;1.0;0.992	B;D;P	0.91635	0.101;0.999;0.888	D	0.98258	1.0497	10	0.87932	D	0	.	13.6529	0.62320	0.0761:0.0:0.9239:0.0	.	322;311;311	Q92570-3;Q92570;Q92570-2	.;NR4A3_HUMAN;.	S	311;311;135;322	ENSP00000378531:G311S;ENSP00000340301:G311S;ENSP00000333122:G322S	ENSP00000333122:G322S	G	+	1	0	NR4A3	101631076	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.723000	0.98772	1.168000	0.42723	0.557000	0.71058	GGC		0.677	NR4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055482.1			
TENM3	55714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	183714119	183714119	+	Silent	SNP	C	C	G	rs369904663		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:183714119C>G	ENST00000511685.1	+	26	6417	c.6294C>G	c.(6292-6294)ctC>ctG	p.L2098L	TENM3_ENST00000406950.2_Silent_p.L2098L			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	2098					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L2098L(1)									TCAGGTCGCTCATGTACTGGA	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											49.0	46.0	47.0					4																	183714119		1888	4106	5994	SO:0001819	synonymous_variant	0			AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.6294C>G	4.37:g.183714119C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Silent	SNP	ENST00000511685.1	37	CCDS47165.1																																																																																				0.393	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			
OR2A42	402317	broad.mit.edu	37	7	143929685	143929685	+	Silent	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr7:143929685G>T	ENST00000391496.1	-	1	251	c.252C>A	c.(250-252)ctC>ctA	p.L84L	RP4-545C24.1_ENST00000493248.1_RNA|RP4-545C24.1_ENST00000498693.1_RNA|RP4-545C24.1_ENST00000477797.1_RNA|RP4-545C24.1_ENST00000464929.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-545C24.1_ENST00000480074.1_RNA|RP4-545C24.1_ENST00000489077.1_RNA	NM_001001802.2	NP_001001802.2	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 42	84						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L84L(1)		breast(1)|kidney(1)|large_intestine(1)|skin(1)	4	Melanoma(164;0.14)					CTGGATGCAGGAGGTTCGCCA	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											48.0	55.0	53.0					7																	143929685		1488	3648	5136	SO:0001819	synonymous_variant	346528				CCDS56515.1	7q35	2013-09-20			ENSG00000212807	ENSG00000212807		"""GPCR / Class A : Olfactory receptors"""	31230	protein-coding gene	gene with protein product							Standard	NM_001001802		Approved			Q8NGT9	OTTHUMG00000157995	ENST00000391496.1:c.252C>A	7.37:g.143929685G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q6IF44|Q96R46	Silent	SNP	ENST00000391496.1	37	CCDS56515.1																																																																																				0.562	OR2A42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349968.1			
OR51D1	390038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4661302	4661302	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr11:4661302G>T	ENST00000357605.2	+	1	358	c.282G>T	c.(280-282)atG>atT	p.M94I		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M94I(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCCCAAGATGGCCAGTCTTT	0.532																																																	1	Substitution - Missense(1)	kidney(1)											148.0	114.0	126.0					11																	4661302		2201	4298	6499	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.282G>T	11.37:g.4661302G>T	ENSP00000350222:p.Met94Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B9EIK4	Missense_Mutation	SNP	ENST00000357605.2	37	CCDS31357.1	.	.	.	.	.	.	.	.	.	.	G	5.345	0.248912	0.10130	.	.	ENSG00000197428	ENST00000357605	T	0.05513	3.43	4.62	3.71	0.42584	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.07052	0.0179	L	0.39633	1.23	0.35560	D	0.804636	B	0.20887	0.049	B	0.22880	0.042	T	0.12811	-1.0533	10	0.52906	T	0.07	.	11.8043	0.52145	0.0867:0.0:0.9133:0.0	.	94	Q8NGF3	O51D1_HUMAN	I	94	ENSP00000350222:M94I	ENSP00000350222:M94I	M	+	3	0	OR51D1	4617878	0.597000	0.26874	0.905000	0.35620	0.000000	0.00434	1.516000	0.35856	1.290000	0.44636	-0.251000	0.11542	ATG		0.532	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385956.1		NM_001004751	
OR8S1	341568	broad.mit.edu	37	12	48921863	48921863	+	Missense_Mutation	SNP	G	G	A	rs545295453		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:48921863G>A	ENST00000310194.1	+	2	1057	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	OR8S1_ENST00000551654.1_3'UTR	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	353						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A353T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CGCGCTGCGCGCGGCGCCCAC	0.662																																																	1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	341568				CCDS31789.1	12q13.2	2012-08-09				ENSG00000197376		"""GPCR / Class A : Olfactory receptors"""	19628	protein-coding gene	gene with protein product							Standard	NM_001005203		Approved		uc010slu.2	Q8NH09		ENST00000310194.1:c.1057G>A	12.37:g.48921863G>A	ENSP00000310632:p.Ala353Thr	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000310194.1	37	CCDS31789.1	.	.	.	.	.	.	.	.	.	.	G	5.482	0.273913	0.10403	.	.	ENSG00000197376	ENST00000310194	T	0.03689	3.84	0.158	-0.317	0.12736	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.19073	0.033	B	0.08055	0.003	T	0.46275	-0.9203	8	0.66056	D	0.02	.	.	.	.	.	353	Q8NH09	OR8S1_HUMAN	T	353	ENSP00000310632:A353T	ENSP00000310632:A353T	A	+	1	0	OR8S1	47208130	0.725000	0.28048	0.024000	0.17045	0.025000	0.11179	-0.727000	0.04931	-1.055000	0.03209	-1.048000	0.02349	GCG		0.662	OR8S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406881.1			
OTUD6A	139562	broad.mit.edu	37	X	69282742	69282742	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chrX:69282742G>T	ENST00000338352.2	+	1	402	c.368G>T	c.(367-369)gGc>gTc	p.G123V		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	123					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)	p.G123V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CACCTGGCCGGCTTCAAGCGC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											24.0	19.0	21.0					X																	69282742		2180	4270	6450	SO:0001583	missense	139562			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.368G>T	X.37:g.69282742G>T	ENSP00000339389:p.Gly123Val	Somatic		WXS	Illumina GAIIx	Phase_I	B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.589266	0.46214	.	.	ENSG00000189401	ENST00000338352	T	0.46063	0.88	4.2	1.36	0.22044	.	0.487586	0.23219	N	0.050590	T	0.41073	0.1143	L	0.57536	1.79	0.23336	N	0.997883	P	0.49358	0.923	P	0.47376	0.545	T	0.25779	-1.0122	10	0.52906	T	0.07	.	6.9802	0.24698	0.1024:0.3377:0.56:0.0	.	123	Q7L8S5	OTU6A_HUMAN	V	123	ENSP00000339389:G123V	ENSP00000339389:G123V	G	+	2	0	OTUD6A	69199467	0.196000	0.23350	0.000000	0.03702	0.000000	0.00434	2.386000	0.44380	0.157000	0.19338	-0.283000	0.09986	GGC		0.637	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1		NM_207320	
PAAF1	80227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73638349	73638349	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr11:73638349A>T	ENST00000310571.3	+	12	1174	c.1121A>T	c.(1120-1122)cAg>cTg	p.Q374L	PAAF1_ENST00000535604.1_Missense_Mutation_p.Q259L|PAAF1_ENST00000544909.1_Missense_Mutation_p.Q375L|RP11-707G14.7_ENST00000535936.1_lincRNA|PAAF1_ENST00000376384.5_Missense_Mutation_p.Q357L|PAAF1_ENST00000536003.1_Missense_Mutation_p.Q357L|PAAF1_ENST00000541951.1_Missense_Mutation_p.Q259L|PAAF1_ENST00000544552.1_Missense_Mutation_p.Q357L	NM_025155.2	NP_079431.1	Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	374					viral process (GO:0016032)	proteasome complex (GO:0000502)		p.Q374L(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGGAGAAGCAGATCTACACA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											157.0	134.0	142.0					11																	73638349		2200	4293	6493	SO:0001583	missense	80227			BC006142	CCDS8226.1, CCDS58157.1, CCDS58158.1	11q13.4	2013-05-21	2007-08-16	2007-08-16	ENSG00000175575	ENSG00000175575		"""WD repeat domain containing"""	25687	protein-coding gene	gene with protein product			"""WD repeat domain 71"""	WDR71		15831487, 17317272, 17289585	Standard	NM_001267803		Approved	FLJ11848, Rpn14	uc001ouk.2	Q9BRP4	OTTHUMG00000168062	ENST00000310571.3:c.1121A>T	11.37:g.73638349A>T	ENSP00000311665:p.Gln374Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDR5|B4DPB0|B7ZAS9|Q4G165|Q53HS9|Q7Z500|Q8TBU6|Q9HAB6	Missense_Mutation	SNP	ENST00000310571.3	37	CCDS8226.1	.	.	.	.	.	.	.	.	.	.	A	10.10	1.256935	0.22965	.	.	ENSG00000175575	ENST00000541951;ENST00000310571;ENST00000535604;ENST00000536003;ENST00000544552;ENST00000376384;ENST00000544909	T;T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41;2.41	4.92	4.92	0.64577	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.213933	0.34025	N	0.004339	T	0.20129	0.0484	N	0.17474	0.49	0.37050	D	0.897541	P;P	0.48294	0.908;0.851	D;P	0.64144	0.922;0.775	T	0.12016	-1.0564	10	0.11485	T	0.65	-7.2406	11.1165	0.48264	1.0:0.0:0.0:0.0	.	357;374	Q9BRP4-2;Q9BRP4	.;PAAF1_HUMAN	L	259;374;259;357;357;357;375	ENSP00000441333:Q259L;ENSP00000311665:Q374L;ENSP00000438789:Q259L;ENSP00000438124:Q357L;ENSP00000441494:Q357L;ENSP00000365564:Q357L;ENSP00000438071:Q375L	ENSP00000311665:Q374L	Q	+	2	0	PAAF1	73315997	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.763000	0.55257	2.193000	0.70182	0.528000	0.53228	CAG		0.458	PAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397885.1		NM_025155	
PABPN1	8106	broad.mit.edu	37	14	23790967	23790969	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr14:23790967_23790969delGAG	ENST00000216727.4	+	1	470_472	c.289_291delGAG	c.(289-291)gagdel	p.E101del	BCL2L2-PABPN1_ENST00000553781.1_Intron|PABPN1_ENST00000556821.1_5'UTR|BCL2L2-PABPN1_ENST00000557008.1_Intron|AL049829.1_ENST00000594872.1_In_Frame_Del_p.P50del|PABPN1_ENST00000397276.2_In_Frame_Del_p.E101del|PABPN1_ENST00000557702.1_5'Flank	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	101	Interacts with SKIP.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CGGCAGCCAAGAGGAGGAGGAGG	0.788																																																	0									,	15,3351		2,11,1670					,	-1.7	1.0			5	32,6788		0,32,3378	no	coding,intron	PABPN1,BCL2L2-PABPN1	NM_004643.3,NM_001199864.1	,	2,43,5048	A1A1,A1R,RR		0.4692,0.4456,0.4614	,	,		47,10139				SO:0001651	inframe_deletion	8106			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.289_291delGAG	14.37:g.23790976_23790978delGAG	ENSP00000216727:p.Glu101del	Somatic		WXS	Illumina GAIIx	Phase_I	D3DS49|O43484	In_Frame_Del	DEL	ENST00000216727.4	37	CCDS9592.1																																																																																				0.788	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4		NM_004643	
PBRM1	55193	hgsc.bcm.edu	37	3	52610639	52610640	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:52610639_52610640delCT	ENST00000296302.7	-	22	3609_3610	c.3608_3609delAG	c.(3607-3609)gagfs	p.E1203fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.E1218fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.E1178fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.E1203fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.E1178fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.E1171fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.E1203fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.E1218fs			Q86U86	PB1_HUMAN	polybromo 1	1203	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TGGGCTCATGCTCTGTTTCTTC	0.381			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3608_3609delAG	3.37:g.52610641_52610642delCT	ENSP00000296302:p.Glu1203fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.381	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134072133	134072133	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:134072133G>A	ENST00000264360.5	+	1	1664	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G280S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCCGGACGAGGGCCAGAACGG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											72.0	71.0	71.0					4																	134072133		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.838G>A	4.37:g.134072133G>A	ENSP00000264360:p.Gly280Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793191	0.50102	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.49139	0.79	4.33	3.48	0.39840	Cadherin (4);Cadherin-like (1);	0.150615	0.31010	N	0.008435	T	0.73666	0.3616	M	0.92169	3.28	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	D;D	0.87578	0.953;0.998	T	0.79701	-0.1693	10	0.87932	D	0	.	12.2677	0.54686	0.0843:0.0:0.9157:0.0	.	280;280	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	280	ENSP00000264360:G280S	ENSP00000264360:G280S	G	+	1	0	PCDH10	134291583	1.000000	0.71417	0.990000	0.47175	0.214000	0.24535	9.588000	0.98232	1.001000	0.39076	0.511000	0.50034	GGC		0.632	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961	
PCDH9	5101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	67205519	67205519	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr13:67205519G>A	ENST00000377865.2	-	3	3297	c.3163C>T	c.(3163-3165)Ctc>Ttc	p.L1055F	PCDH9_ENST00000544246.1_Missense_Mutation_p.L1055F|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.L1021F|PCDH9_ENST00000456367.1_Missense_Mutation_p.L1021F			Q9HC56	PCDH9_HUMAN	protocadherin 9	1055					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L1055F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCATCAGGGAGATGAAACGTA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											87.0	76.0	80.0					13																	67205519		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3163C>T	13.37:g.67205519G>A	ENSP00000367096:p.Leu1055Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295964	0.81025	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.63255	-0.03;-0.03;0.01;0.01	5.63	4.79	0.61399	.	0.000000	0.37955	N	0.001876	T	0.60830	0.2299	L	0.46157	1.445	0.37594	D	0.920287	P;P	0.52842	0.799;0.956	B;P	0.45971	0.371;0.499	T	0.69862	-0.5030	10	0.72032	D	0.01	.	14.3982	0.67025	0.0709:0.0:0.9291:0.0	.	1021;1055	Q9HC56-2;Q9HC56	.;PCDH9_HUMAN	F	1055;1055;1021;1021	ENSP00000442186:L1055F;ENSP00000367096:L1055F;ENSP00000401699:L1021F;ENSP00000332060:L1021F	ENSP00000332060:L1021F	L	-	1	0	PCDH9	66103520	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.476000	0.97823	1.385000	0.46445	0.655000	0.94253	CTC		0.502	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487	
PCDHA3	56145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140182765	140182765	+	Silent	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:140182765C>A	ENST00000522353.2	+	1	1983	c.1983C>A	c.(1981-1983)gcC>gcA	p.A661A	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.A661A|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	661	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A661A(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTGACCGCCACGGCCACTG	0.697																																																	2	Substitution - coding silent(2)	kidney(2)											56.0	58.0	57.0					5																	140182765		2203	4300	6503	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1983C>A	5.37:g.140182765C>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75286	Silent	SNP	ENST00000522353.2	37	CCDS54915.1																																																																																				0.697	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2		NM_018906	
PCDHA7	56141	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140216218	140216218	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:140216218C>A	ENST00000525929.1	+	1	2250	c.2250C>A	c.(2248-2250)ttC>ttA	p.F750L	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.F750L|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	750					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F750L(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTCATTCTCCCAGCAGA	0.632																																					NSCLC(160;258 2013 5070 22440 28951)												2	Substitution - Missense(2)	kidney(2)											54.0	53.0	53.0					5																	140216218		2203	4300	6503	SO:0001583	missense	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2250C>A	5.37:g.140216218C>A	ENSP00000436426:p.Phe750Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O75282	Missense_Mutation	SNP	ENST00000525929.1	37	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	9.569	1.120603	0.20877	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.11277	2.79;2.79	3.67	0.665	0.17896	.	0.847430	0.09233	U	0.830258	T	0.06508	0.0167	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38607	-0.9653	10	0.46703	T	0.11	.	6.9411	0.24492	0.0:0.5621:0.2883:0.1496	.	750;750	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	L	750	ENSP00000436426:F750L;ENSP00000367365:F750L	ENSP00000367365:F750L	F	+	3	2	PCDHA7	140196402	0.028000	0.19301	0.154000	0.22540	0.359000	0.29487	0.274000	0.18680	0.287000	0.22375	0.462000	0.41574	TTC		0.632	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2		NM_018910	
PCDHB2	56133	hgsc.bcm.edu	37	5	140476000	140476000	+	Silent	SNP	G	G	A	rs141231979	byFrequency	TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:140476000G>A	ENST00000194155.4	+	1	1774	c.1626G>A	c.(1624-1626)gcG>gcA	p.A542A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A542A(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCCCCGGCGTTGAGCAGCG	0.706																																																	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											39.0	44.0	42.0					5																	140476000		2200	4298	6498	SO:0001819	synonymous_variant	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1626G>A	5.37:g.140476000G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																				0.706	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2		NM_018936	
C10orf55	414236	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75673067	75673067	+	Intron	SNP	C	C	T	rs375029894		TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr10:75673067C>T	ENST00000409178.1	-	3	268				PLAU_ENST00000372762.4_Nonsense_Mutation_p.R94*|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000494287.1_3'UTR|PLAU_ENST00000372764.3_Nonsense_Mutation_p.R130*|PLAU_ENST00000446342.1_Nonsense_Mutation_p.R113*	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55									p.R130*(1)		endometrium(1)	1	Prostate(51;0.0112)					CAACCGGAGGCGACCCTGGTG	0.572																																																	1	Substitution - Nonsense(1)	kidney(1)						C	,stop/ARG,stop/ARG	0,4406		0,0,2203	110.0	112.0	111.0		,337,388	-6.9	0.0	10		111	1,8599	1.2+/-3.3	0,1,4299	no	intron,stop-gained,stop-gained	PLAU,C10orf55	NM_001001791.2,NM_001145031.1,NM_002658.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	,113/415,130/432	75673067	1,13005	2203	4300	6503	SO:0001627	intron_variant	5328				CCDS53541.1	10q22.2	2012-05-24			ENSG00000222047	ENSG00000222047			31008	protein-coding gene	gene with protein product							Standard	NM_001001791		Approved	bA417O11.3	uc001jvz.2	Q5SWW7	OTTHUMG00000018496	ENST00000409178.1:c.73-234G>A	10.37:g.75673067C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q3KRG4|Q8NAK4	Nonsense_Mutation	SNP	ENST00000409178.1	37	CCDS53541.1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.131813	0.37630	0.0	1.16E-4	ENSG00000122861	ENST00000446342;ENST00000372764;ENST00000372762;ENST00000372761	.	.	.	5.47	-6.86	0.01676	.	0.609153	0.16615	N	0.206730	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.5284	0.16970	0.5129:0.2238:0.0:0.2634	.	.	.	.	X	113;130;94;94	.	ENSP00000361847:R94X	R	+	1	2	PLAU	75343073	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-0.670000	0.05256	-0.998000	0.03446	0.650000	0.86243	CGA		0.572	C10orf55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048746.1		NM_001001791	
PLEKHA5	54477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	19410396	19410396	+	Silent	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:19410396T>C	ENST00000299275.6	+	6	468	c.462T>C	c.(460-462)aaT>aaC	p.N154N	PLEKHA5_ENST00000355397.3_Silent_p.N154N|PLEKHA5_ENST00000429027.2_Silent_p.N154N|PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000359180.3_Silent_p.N154N|PLEKHA5_ENST00000543806.1_Silent_p.N46N|PLEKHA5_ENST00000317589.4_Silent_p.N154N|PLEKHA5_ENST00000538714.1_Silent_p.N154N|PLEKHA5_ENST00000424268.1_Silent_p.N46N|PLEKHA5_ENST00000309364.4_Silent_p.N154N	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	154					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.N154N(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGTTCATAATTTTGGAAAGA	0.318																																					Pancreas(196;329 2193 11246 14234 19524)												2	Substitution - coding silent(2)	kidney(2)											79.0	90.0	86.0					12																	19410396		2203	4300	6503	SO:0001819	synonymous_variant	54477			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.462T>C	12.37:g.19410396T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Silent	SNP	ENST00000299275.6	37	CCDS8682.1																																																																																				0.318	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1		NM_019012	
PLXNB1	5364	broad.mit.edu;hgsc.bcm.edu	37	3	48461035	48461035	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:48461035A>G	ENST00000358536.4	-	11	2929	c.2660T>C	c.(2659-2661)cTc>cCc	p.L887P	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L704P|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L887P|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L704P	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	887					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.L887P(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCTGGACGGGAGGATGAGGGG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											19.0	24.0	22.0					3																	48461035		2173	4251	6424	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2660T>C	3.37:g.48461035A>G	ENSP00000351338:p.Leu887Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329483	0.41197	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.03607	3.87;3.91;3.87;3.91	4.8	4.8	0.61643	.	0.208570	0.32703	N	0.005746	T	0.05181	0.0138	N	0.08118	0	0.80722	D	1	B;D	0.59767	0.067;0.986	B;P	0.56865	0.031;0.808	T	0.54227	-0.8325	10	0.66056	D	0.02	.	12.0888	0.53713	1.0:0.0:0.0:0.0	.	887;704	O43157;O43157-2	PLXB1_HUMAN;.	P	887;704;887;704	ENSP00000296440:L887P;ENSP00000351242:L704P;ENSP00000351338:L887P;ENSP00000414199:L704P	ENSP00000296440:L887P	L	-	2	0	PLXNB1	48436039	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.322000	0.43814	1.781000	0.52344	0.379000	0.24179	CTC		0.667	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1		NM_002673	
PRKACG	5568	broad.mit.edu;hgsc.bcm.edu	37	9	71628614	71628614	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr9:71628614C>T	ENST00000377276.2	-	1	425	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.R132H(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCGCTGTAGGCGGGAGAACAT	0.582																																					Esophageal Squamous(110;2236 2623 32146)												1	Substitution - Missense(1)	kidney(1)											96.0	77.0	84.0					9																	71628614		2203	4300	6503	SO:0001583	missense	5568			M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.395G>A	9.37:g.71628614C>T	ENSP00000366488:p.Arg132His	Somatic		WXS	Illumina HiSeq	Phase_I	O60850|Q5VZ02|Q86YI1	Missense_Mutation	SNP	ENST00000377276.2	37	CCDS6625.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.784970	0.00628	.	.	ENSG00000165059	ENST00000377276	T	0.64991	-0.13	1.49	-2.98	0.05513	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.249513	0.20097	N	0.099306	T	0.29850	0.0746	N	0.11927	0.2	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.24621	-1.0155	10	0.09338	T	0.73	.	2.6917	0.05122	0.203:0.3142:0.0:0.4828	.	132	P22612	KAPCG_HUMAN	H	132	ENSP00000366488:R132H	ENSP00000366488:R132H	R	-	2	0	PRKACG	70818434	0.997000	0.39634	0.000000	0.03702	0.000000	0.00434	2.210000	0.42816	-2.153000	0.00793	-1.832000	0.00591	CGC		0.582	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1			
RGS3	5998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	116299108	116299108	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr9:116299108C>G	ENST00000374140.2	+	20	2156	c.1947C>G	c.(1945-1947)caC>caG	p.H649Q	RGS3_ENST00000374136.1_Missense_Mutation_p.H275Q|RGS3_ENST00000317613.6_Missense_Mutation_p.H537Q|RGS3_ENST00000394646.3_Missense_Mutation_p.H368Q|RGS3_ENST00000462143.1_5'UTR|RGS3_ENST00000350696.5_Missense_Mutation_p.H649Q|RGS3_ENST00000343817.5_Missense_Mutation_p.H368Q	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	649					inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.H545Q(1)|p.H649Q(1)|p.H537Q(1)		cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGAAGCGCACTCGCAGGAGC	0.592																																																	3	Substitution - Missense(3)	kidney(3)											139.0	127.0	131.0					9																	116299108		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.1947C>G	9.37:g.116299108C>G	ENSP00000363255:p.His649Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160112|4.160112	0.78226|0.78226	.|.	.|.	ENSG00000138835|ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000317613;ENST00000343817;ENST00000394646;ENST00000374136|ENST00000496113	T;T;T;T;T;T|.	0.61742|.	0.08;0.08;0.08;0.08;0.08;0.08|.	5.44|5.44	5.44|5.44	0.79542|0.79542	Pleckstrin homology-type (1);|.	0.144148|.	0.48286|.	D|.	0.000197|.	T|T	0.69495|0.69495	0.3117|0.3117	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	B;P;D;D;P;D|.	0.56521|.	0.261;0.61;0.976;0.96;0.919;0.974|.	B;B;P;B;P;P|.	0.49597|.	0.047;0.346;0.561;0.358;0.616;0.603|.	T|T	0.66709|0.66709	-0.5855|-0.5855	10|5	0.72032|.	D|.	0.01|.	.|.	16.0054|16.0054	0.80359|0.80359	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	368;275;368;539;537;649|.	B3KUB2;Q5VXC0;P49796-4;B3KWG8;P49796-5;P49796|.	.;.;.;.;.;RGS3_HUMAN|.	Q|V	649;649;537;368;368;275|104	ENSP00000363255:H649Q;ENSP00000259406:H649Q;ENSP00000312844:H537Q;ENSP00000340284:H368Q;ENSP00000378141:H368Q;ENSP00000363251:H275Q|.	ENSP00000312844:H537Q|.	H|L	+|+	3|1	2|0	RGS3|RGS3	115338929|115338929	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.649000|3.649000	0.54417|0.54417	2.561000|2.561000	0.86390|0.86390	0.563000|0.563000	0.77884|0.77884	CAC|CTC		0.592	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3		NM_017790	
ROBO1	6091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	78706388	78706388	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:78706388T>C	ENST00000464233.1	-	18	2587	c.2474A>G	c.(2473-2475)cAc>cGc	p.H825R	ROBO1_ENST00000495273.1_Missense_Mutation_p.H789R|ROBO1_ENST00000467549.1_Missense_Mutation_p.H789R|ROBO1_ENST00000436010.2_Missense_Mutation_p.H786R	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	825	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.H802R(1)|p.H825R(1)|p.H789R(1)|p.H829R(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTGTTGATGTGGTATCGAGT	0.453																																																	4	Substitution - Missense(4)	kidney(4)											76.0	75.0	75.0					3																	78706388		1951	4168	6119	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2474A>G	3.37:g.78706388T>C	ENSP00000420321:p.His825Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436513	0.62955	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	6.04	6.04	0.98038	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.087524	0.85682	D	0.000000	T	0.64940	0.2644	L	0.53617	1.68	0.80722	D	1	D;D;D;D;P	0.89917	0.989;0.998;1.0;0.996;0.938	D;D;D;D;P	0.91635	0.985;0.992;0.999;0.978;0.614	T	0.62685	-0.6802	9	.	.	.	.	16.6244	0.84952	0.0:0.0:0.0:1.0	.	789;825;789;789;786	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	R	786;789;825;789;789;829	ENSP00000406043:H786R;ENSP00000420321:H825R;ENSP00000420637:H789R;ENSP00000417992:H789R	.	H	-	2	0	ROBO1	78789078	1.000000	0.71417	0.996000	0.52242	0.274000	0.26718	8.040000	0.89188	2.323000	0.78572	0.529000	0.55759	CAC		0.453	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		NM_002941	
ROBO1	6091	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	78706390	78706390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:78706390G>T	ENST00000464233.1	-	18	2585	c.2472C>A	c.(2470-2472)taC>taA	p.Y824*	ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Y788*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Y788*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.Y785*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	824	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.Y824*(1)|p.Y828*(1)|p.Y801*(1)|p.Y788*(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTTGATGTGGTATCGAGTTT	0.453																																																	4	Substitution - Nonsense(4)	kidney(4)											75.0	74.0	74.0					3																	78706390		1954	4169	6123	SO:0001587	stop_gained	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.2472C>A	3.37:g.78706390G>T	ENSP00000420321:p.Tyr824*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	38	7.197875	0.98129	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	6.04	3.28	0.37604	.	0.109062	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5048	0.33181	0.3601:0.0:0.6399:0.0	.	.	.	.	X	785;788;824;788;788;828	.	.	Y	-	3	2	ROBO1	78789080	1.000000	0.71417	0.993000	0.49108	0.352000	0.29268	1.120000	0.31271	0.439000	0.26476	0.650000	0.86243	TAC		0.453	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1		NM_002941	
SEC14L5	9717	broad.mit.edu	37	16	5050877	5050877	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:5050877G>A	ENST00000251170.7	+	10	1261	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	361	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)	p.G361R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAACGAGGAAGGACAGAAGCG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											25.0	29.0	27.0					16																	5050877		2099	4237	6336	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1081G>A	16.37:g.5050877G>A	ENSP00000251170:p.Gly361Arg	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579337	0.65878	.	.	ENSG00000103184	ENST00000251170	T	0.75938	-0.98	4.3	4.3	0.51218	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.092126	0.46145	D	0.000302	T	0.81607	0.4858	M	0.70903	2.155	0.80722	D	1	P	0.46512	0.879	P	0.53549	0.729	T	0.81726	-0.0801	10	0.38643	T	0.18	-16.9817	17.3174	0.87228	0.0:0.0:1.0:0.0	.	361	O43304	S14L5_HUMAN	R	361	ENSP00000251170:G361R	ENSP00000251170:G361R	G	+	1	0	SEC14L5	4990878	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	9.099000	0.94207	2.398000	0.81561	0.563000	0.77884	GGA		0.627	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			
SEC24B	10427	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	110402835	110402835	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr4:110402835G>A	ENST00000265175.5	+	4	1118	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	SEC24B_ENST00000504968.2_Missense_Mutation_p.V386M|SEC24B_ENST00000399100.2_Intron	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	355					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.V355M(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTTTACAGGCGTGCAGTATGG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											200.0	188.0	192.0					4																	110402835		1931	4155	6086	SO:0001583	missense	10427			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1063G>A	4.37:g.110402835G>A	ENSP00000265175:p.Val355Met	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	G	1.665	-0.510370	0.04231	.	.	ENSG00000138802	ENST00000504968;ENST00000265175	T;T	0.77620	-0.96;-1.11	5.56	3.07	0.35406	.	0.688387	0.14930	N	0.290132	T	0.49983	0.1589	N	0.01576	-0.805	0.22280	N	0.999236	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.36383	-0.9750	10	0.23302	T	0.38	-8.8589	10.3278	0.43805	0.8649:0.0:0.1351:0.0	.	386;355	B7ZKM8;O95487	.;SC24B_HUMAN	M	386;355	ENSP00000428564:V386M;ENSP00000265175:V355M	ENSP00000265175:V355M	V	+	1	0	SEC24B	110622284	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.609000	0.54117	0.373000	0.24621	-0.295000	0.09555	GTG		0.413	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			
SLC7A1	6541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	30091722	30091722	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr13:30091722T>C	ENST00000380752.5	-	10	1884	c.1498A>G	c.(1498-1500)Acc>Gcc	p.T500A	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	500					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)	p.T500A(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ATGAGGCTGGTTGAAATGTTC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											152.0	150.0	151.0					13																	30091722		2203	4300	6503	SO:0001583	missense	6541			AF078107	CCDS9333.1	13q12.3	2013-05-22			ENSG00000139514	ENSG00000139514		"""Solute carriers"""	11057	protein-coding gene	gene with protein product	"""ecotropic retroviral receptor"", ""amino acid transporter, cationic 1"""	104615		ERR, ATRC1		1348489	Standard	NM_003045		Approved	CAT-1, HCAT1, REC1L	uc001uso.3	P30825	OTTHUMG00000016658	ENST00000380752.5:c.1498A>G	13.37:g.30091722T>C	ENSP00000370128:p.Thr500Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JR50	Missense_Mutation	SNP	ENST00000380752.5	37	CCDS9333.1	.	.	.	.	.	.	.	.	.	.	T	0.651	-0.809634	0.02798	.	.	ENSG00000139514	ENST00000380752	D	0.85955	-2.05	5.24	2.96	0.34315	.	0.347254	0.33401	N	0.004946	T	0.61022	0.2314	N	0.04508	-0.205	0.35248	D	0.77839	B	0.02656	0.0	B	0.04013	0.001	T	0.55749	-0.8092	10	0.05525	T	0.97	.	6.2119	0.20633	0.0:0.43:0.0:0.57	.	500	P30825	CTR1_HUMAN	A	500	ENSP00000370128:T500A	ENSP00000370128:T500A	T	-	1	0	SLC7A1	28989722	0.139000	0.22563	0.996000	0.52242	0.678000	0.39670	0.285000	0.18883	0.486000	0.27676	0.533000	0.62120	ACC		0.498	SLC7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044337.2		NM_003045	
SLIT3	6586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	168114104	168114104	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr5:168114104C>T	ENST00000519560.1	-	30	3613	c.3194G>A	c.(3193-3195)gGc>gAc	p.G1065D	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1065D|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1072D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1065	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G1065D(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCGCTGTAGCCAGGGACACA	0.602																																					Ovarian(29;311 847 10864 17279 24903)												1	Substitution - Missense(1)	kidney(1)											60.0	55.0	57.0					5																	168114104		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3194G>A	5.37:g.168114104C>T	ENSP00000430333:p.Gly1065Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.655897	0.88056	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.98192	-4.78;-4.78;-4.78	4.45	4.45	0.53987	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.047315	0.85682	D	0.000000	D	0.99158	0.9709	M	0.92367	3.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99229	1.0881	10	0.87932	D	0	.	16.4627	0.84069	0.0:1.0:0.0:0.0	.	1065	O75094	SLIT3_HUMAN	D	1065;1072;1065	ENSP00000430333:G1065D;ENSP00000332164:G1072D;ENSP00000384890:G1065D	ENSP00000332164:G1072D	G	-	2	0	SLIT3	168046682	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.794000	0.85869	2.181000	0.69327	0.462000	0.41574	GGC		0.602	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062	
TSPAN19	144448	broad.mit.edu;ucsc.edu	37	12	85421790	85421790	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr12:85421790G>A	ENST00000532498.2	-	4	231	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	TSPAN19_ENST00000547403.2_Intron	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	51						integral component of membrane (GO:0016021)		p.H51Y(1)		ovary(1)	1						ACTATGAAGTGATTATTTTCA	0.269																																																	1	Substitution - Missense(1)	kidney(1)											52.0	49.0	50.0					12																	85421790		1799	4066	5865	SO:0001583	missense	144448				CCDS44949.1	12q21.31	2013-02-14			ENSG00000231738	ENSG00000231738		"""Tetraspanins"""	31886	protein-coding gene	gene with protein product							Standard	NM_001100917		Approved		uc009zsj.3	P0C672	OTTHUMG00000166181	ENST00000532498.2:c.151C>T	12.37:g.85421790G>A	ENSP00000433816:p.His51Tyr	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000532498.2	37	CCDS44949.1	.	.	.	.	.	.	.	.	.	.	G	3.817	-0.038592	0.07497	.	.	ENSG00000231738	ENST00000532498;ENST00000547836	T;T	0.78924	-1.22;-1.22	4.4	3.49	0.39957	.	.	.	.	.	T	0.66867	0.2833	N	0.08118	0	0.09310	N	1	D	0.65815	0.995	D	0.63192	0.912	T	0.58612	-0.7606	9	0.02654	T	1	.	7.3205	0.26526	0.1155:0.0:0.8845:0.0	.	51	P0C672	TSN19_HUMAN	Y	51	ENSP00000433816:H51Y;ENSP00000446898:H51Y	ENSP00000433816:H51Y	H	-	1	0	TSPAN19	83945921	0.627000	0.27129	0.040000	0.18447	0.003000	0.03518	0.582000	0.23834	2.379000	0.81126	0.655000	0.94253	CAC		0.269	TSPAN19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388240.2		NM_001100917	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179484439	179484439	+	Silent	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:179484439T>C	ENST00000591111.1	-	200	41906	c.41682A>G	c.(41680-41682)cgA>cgG	p.R13894R	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.R15535R|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000460472.2_Silent_p.R6470R|TTN_ENST00000342175.6_Silent_p.R6662R|TTN_ENST00000359218.5_Silent_p.R6595R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.R12967R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA			Q8WZ42	TITIN_HUMAN	titin	13894					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R12967R(2)|p.R6595R(1)|p.R6662R(1)|p.R6470R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAATCTGTAGTCGATGTATCT	0.423																																																	5	Substitution - coding silent(5)	kidney(5)											219.0	216.0	217.0					2																	179484439		1905	4110	6015	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.41682A>G	2.37:g.179484439T>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																																																																																					0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179504809	179504809	+	Silent	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:179504809G>A	ENST00000591111.1	-	172	36053	c.35829C>T	c.(35827-35829)ctC>ctT	p.L11943L	TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.L13584L|TTN_ENST00000460472.2_Silent_p.L4519L|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000342175.6_Silent_p.L4711L|TTN_ENST00000359218.5_Silent_p.L4644L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.L11016L|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11943	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L11016L(2)|p.L4644L(1)|p.L4519L(1)|p.L4711L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTGCAGGGAGAGGTATTG	0.388																																																	5	Substitution - coding silent(5)	kidney(5)											169.0	163.0	165.0					2																	179504809		1892	4110	6002	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.35829C>T	2.37:g.179504809G>A		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		.	.	.	.	.	.	.	.	.	.	G	5.215	0.225174	0.09916	.	.	ENSG00000155657	ENST00000426232	.	.	.	5.02	-0.0462	0.13848	.	.	.	.	.	T	0.50222	0.1603	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35748	-0.9776	4	.	.	.	.	4.9414	0.13967	0.3151:0.2678:0.417:0.0	.	.	.	.	S	239	.	.	P	-	1	0	TTN	179213054	0.997000	0.39634	0.996000	0.52242	0.641000	0.38312	0.175000	0.16762	-0.005000	0.14395	0.454000	0.30748	CCC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTYH2	94015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72249930	72249930	+	Silent	SNP	C	C	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr17:72249930C>T	ENST00000269346.4	+	13	1556	c.1482C>T	c.(1480-1482)taC>taT	p.Y494Y	TTYH2_ENST00000529107.1_Silent_p.Y473Y|TTYH2_ENST00000441391.2_Silent_p.Y173Y	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	494						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)	p.Y494Y(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ACCCACGCTACGAGAACGTGC	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											164.0	132.0	143.0					17																	72249930		2203	4300	6503	SO:0001819	synonymous_variant	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1482C>T	17.37:g.72249930C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	CCDS32717.1																																																																																				0.562	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077410	32077410	+	RNA	SNP	G	G	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr16:32077410G>T	ENST00000354689.6	+	0	25				RP11-1166P10.6_ENST00000566806.1_RNA					immunoglobulin heavy variable 3/OR16-9 (non-functional)																		GGAGTCTGGAGGAGGCTTGGT	0.562																																																	0																																												0			Z29606		16p11.2	2013-12-06	2008-09-11		ENSG00000270472	ENSG00000270472		"""Immunoglobulins / IGH orphons"""	5644	other	immunoglobulin gene			"""immunoglobulin heavy variable 3/OR16-9"""				Standard			Approved	IGHV3/OR16-9			OTTHUMG00000184753		16.37:g.32077410G>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000354689.6	37		.	.	.	.	.	.	.	.	.	.	G	1.953	-0.440862	0.04636	.	.	ENSG00000198229	ENST00000354689	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	9	.	ENSP00000346720:G9X	G	+	1	0	AC142381.1	31984911	0.001000	0.12720	0.137000	0.22149	0.139000	0.21198	-0.014000	0.12656	0.107000	0.17824	0.109000	0.15622	GGA		0.562	IGHV3OR16-9-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000432530.2			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188202	10188202	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:10188202delC	ENST00000256474.2	+	2	1185	c.345delC	c.(343-345)cacfs	p.H115fs	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	115	Involved in binding to CCT complex.		H -> Q (in VHLD; type II). {ECO:0000269|PubMed:9829912}.|H -> R (in VHLD; type II; dbSNP:rs5030812).|H -> Y (in VHLD; type I; dbSNP:rs5030811). {ECO:0000269|PubMed:8956040}.		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.?(3)|p.H115fs*41(1)|p.L116fs*16(1)|p.H115fs*42(1)|p.H115fs*15(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)		CGATAGGTCACCTTTGGCTCT	0.527		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"""	7	Unknown(3)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	kidney(7)	GRCh37	CI994275|CM023998|CM951285	VHL	I|M							172.0	159.0	163.0					3																	10188202		2203	4300	6503	SO:0001589	frameshift_variant	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.345delC	3.37:g.10188202delC	ENSP00000256474:p.His115fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.527	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WDR5B	54554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	122134164	122134164	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr3:122134164T>C	ENST00000330689.4	-	1	718	c.212A>G	c.(211-213)tAt>tGt	p.Y71C	RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA|RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	71								p.Y71C(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTTTCCATCATATGCTCCCCA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											144.0	146.0	145.0					3																	122134164		2203	4300	6503	SO:0001583	missense	54554			AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.212A>G	3.37:g.122134164T>C	ENSP00000330381:p.Tyr71Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	T	11.20	1.567440	0.28003	.	.	ENSG00000196981	ENST00000330689	T	0.81247	-1.47	4.64	2.28	0.28536	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.111354	0.64402	N	0.000006	T	0.66954	0.2842	N	0.25380	0.74	0.80722	D	1	B	0.13145	0.007	B	0.16289	0.015	T	0.59456	-0.7451	10	0.54805	T	0.06	.	8.3014	0.32017	0.0:0.1324:0.0:0.8676	.	71	Q86VZ2	WDR5B_HUMAN	C	71	ENSP00000330381:Y71C	ENSP00000330381:Y71C	Y	-	2	0	WDR5B	123616854	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	2.750000	0.47500	0.395000	0.25257	0.379000	0.24179	TAT		0.413	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1		NM_019069	
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168101917	168101917	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr2:168101917A>T	ENST00000409195.1	+	9	4104	c.4015A>T	c.(4015-4017)Aaa>Taa	p.K1339*	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.K1117*|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.K1339*	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1164					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.K1339*(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CACAGTTAAAAAAGAAGAGGT	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											83.0	76.0	78.0					2																	168101917		1854	4103	5957	SO:0001587	stop_gained	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4015A>T	2.37:g.168101917A>T	ENSP00000386840:p.Lys1339*	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Nonsense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	43	10.515002	0.99419	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9402	15.7714	0.78173	1.0:0.0:0.0:0.0	.	.	.	.	X	1339;1339;1117	.	ENSP00000295237:K1339X	K	+	1	0	XIRP2	167810163	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.942000	0.92970	2.215000	0.71742	0.460000	0.39030	AAA		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381	
ZFP28	140612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57065721	57065721	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr19:57065721C>A	ENST00000301318.3	+	8	1638	c.1567C>A	c.(1567-1569)Cac>Aac	p.H523N	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H523N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GCTTAATCAACACAGGAGAAT	0.423																																					Ovarian(124;554 1662 19430 21141 52494)												1	Substitution - Missense(1)	kidney(1)											67.0	59.0	62.0					19																	57065721		2203	4300	6503	SO:0001583	missense	140612				CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.1567C>A	19.37:g.57065721C>A	ENSP00000301318:p.His523Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702564	0.68501	.	.	ENSG00000196867	ENST00000301318	D	0.86865	-2.18	4.3	4.3	0.51218	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000202	D	0.95316	0.8480	H	0.95712	3.71	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	D	0.96705	0.9521	10	0.87932	D	0	.	16.0454	0.80717	0.0:1.0:0.0:0.0	.	523	Q8NHY6	ZFP28_HUMAN	N	523	ENSP00000301318:H523N	ENSP00000301318:H523N	H	+	1	0	ZFP28	61757533	0.998000	0.40836	0.913000	0.36048	0.994000	0.84299	4.136000	0.58004	2.390000	0.81377	0.650000	0.86243	CAC		0.423	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1		NM_020828	
ZNF438	220929	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	31138528	31138528	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr10:31138528A>G	ENST00000361310.3	-	6	1135	c.806T>C	c.(805-807)aTg>aCg	p.M269T	ZNF438_ENST00000436087.2_Missense_Mutation_p.M269T|ZNF438_ENST00000413025.1_Missense_Mutation_p.M269T|ZNF438_ENST00000444692.2_Missense_Mutation_p.M259T|ZNF438_ENST00000538351.2_Missense_Mutation_p.M220T|ZNF438_ENST00000452305.1_Missense_Mutation_p.M259T|ZNF438_ENST00000331737.6_Missense_Mutation_p.M259T|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000442986.1_Missense_Mutation_p.M269T			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	269					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M269T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TAAATTGGTCATGGTTTTTGC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											197.0	186.0	190.0					10																	31138528		2203	4300	6503	SO:0001583	missense	220929			AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.806T>C	10.37:g.31138528A>G	ENSP00000354663:p.Met269Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	A	9.788	1.177189	0.21787	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.25	1.37	0.22104	.	0.507066	0.24618	N	0.036982	T	0.06962	0.0177	L	0.44542	1.39	0.09310	N	1	B;B	0.16802	0.011;0.019	B;B	0.12156	0.003;0.007	T	0.29274	-1.0017	10	0.66056	D	0.02	-0.8102	5.0088	0.14302	0.7188:0.0:0.1493:0.1319	.	269;259	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	T	259;269;269;269;269;259;259;220	ENSP00000333571:M259T;ENSP00000354663:M269T;ENSP00000406934:M269T;ENSP00000412363:M269T;ENSP00000387546:M269T;ENSP00000413060:M259T;ENSP00000410898:M259T;ENSP00000445461:M220T	ENSP00000333571:M259T	M	-	2	0	ZNF438	31178534	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.862000	0.27899	-0.016000	0.14127	0.533000	0.62120	ATG		0.403	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1		NM_182755	
ZFYVE27	118813	broad.mit.edu;hgsc.bcm.edu	37	10	99512825	99512825	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4989-01A-01D-1462-08	TCGA-BP-4989-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7096085b-cd5b-4cd1-8957-a6adcf7e818a	79d2b099-9648-4699-a5c3-17e90c5aed60	g.chr10:99512825G>A	ENST00000393677.4	+	10	1132	c.928G>A	c.(928-930)Gag>Aag	p.E310K	ZFYVE27_ENST00000337540.7_Missense_Mutation_p.E271K|ZFYVE27_ENST00000370610.3_Missense_Mutation_p.E210K|ZFYVE27_ENST00000356257.4_Missense_Mutation_p.E315K|ZFYVE27_ENST00000357540.4_Missense_Mutation_p.E217K|ZFYVE27_ENST00000359980.3_Missense_Mutation_p.E303K|ZFYVE27_ENST00000453958.2_Missense_Mutation_p.E303K|ZFYVE27_ENST00000370613.3_Missense_Mutation_p.E185K	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	310					cell death (GO:0008219)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein localization to plasma membrane (GO:0072659)	axon (GO:0030424)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)	metal ion binding (GO:0046872)	p.E315K(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		GTGCCCAGCAGAGGATGAGCT	0.647																																																	1	Substitution - Missense(1)	kidney(1)											35.0	26.0	29.0					10																	99512825		2202	4300	6502	SO:0001583	missense	118813			BC030621	CCDS31263.1, CCDS31264.1, CCDS53562.1, CCDS53563.1, CCDS53564.1, CCDS53565.1	10q24.2	2013-09-11			ENSG00000155256	ENSG00000155256		"""Zinc fingers, FYVE domain containing"""	26559	protein-coding gene	gene with protein product	"""protrudin"""	610243				14702039	Standard	NM_144588		Approved	FLJ32919, SPG33	uc001kol.2	Q5T4F4	OTTHUMG00000018867	ENST00000393677.4:c.928G>A	10.37:g.99512825G>A	ENSP00000377282:p.Glu310Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3S0|B7Z404|B7Z626|G8JLC3|G8JLF0|J3KP98|Q5T4F1|Q5T4F2|Q5T4F3|Q8N1K0|Q8N6D6|Q8NCA0|Q8NDE4|Q96M08	Missense_Mutation	SNP	ENST00000393677.4	37	CCDS31263.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519165	0.96416	.	.	ENSG00000155256	ENST00000337540;ENST00000357540;ENST00000370613;ENST00000370610;ENST00000393677;ENST00000453958;ENST00000359980;ENST00000356257;ENST00000423811	T;T;T;T;T;T;T	0.48201	0.82;0.88;1.41;1.32;1.39;1.43;1.43	5.62	5.62	0.85841	Zinc finger, FYVE/PHD-type (1);	0.153029	0.64402	D	0.000013	T	0.52964	0.1767	L	0.29908	0.895	0.58432	D	0.999995	P;P;D;P;D;P;P	0.61697	0.859;0.917;0.976;0.591;0.99;0.913;0.952	P;P;P;B;P;P;P	0.55391	0.601;0.524;0.724;0.399;0.721;0.775;0.53	T	0.47935	-0.9078	10	0.38643	T	0.18	-25.3466	19.6574	0.95849	0.0:0.0:1.0:0.0	.	271;210;185;217;315;303;310	B7Z404;B7Z3S0;B7Z626;Q5T4F4-5;Q5T4F4-3;Q5T4F4-2;Q5T4F4	.;.;.;.;.;.;ZFY27_HUMAN	K	271;217;185;210;310;303;303;315;293	ENSP00000337993:E271K;ENSP00000359642:E210K;ENSP00000377282:E310K;ENSP00000401580:E303K;ENSP00000353069:E303K;ENSP00000348593:E315K;ENSP00000409594:E293K	ENSP00000337993:E271K	E	+	1	0	ZFYVE27	99502815	1.000000	0.71417	0.974000	0.42286	0.979000	0.70002	9.121000	0.94375	2.645000	0.89757	0.462000	0.41574	GAG		0.647	ZFYVE27-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049745.2		NM_144588	
