#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_ORegAnno_bin	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
ACD	65057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67692130	67692130	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr16:67692130G>A	ENST00000393919.4	-	10	1487	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	ACD_ENST00000219251.8_Missense_Mutation_p.A405V|PARD6A_ENST00000458121.2_5'Flank|PARD6A_ENST00000602551.1_5'Flank|PARD6A_ENST00000219255.3_5'Flank			Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	408	Ser-rich.				intracellular protein transport (GO:0006886)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of single-stranded telomeric DNA binding (GO:0060381)|positive regulation of telomerase activity (GO:0051973)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere capping (GO:0016233)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)	p.A405V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		GGTGGCAGGGGCTGAGCAGAT	0.662																																																	1	Substitution - Missense(1)	kidney(1)											51.0	58.0	56.0					16																	67692130		2198	4300	6498	SO:0001583	missense	65057			AF070535	CCDS10842.1, CCDS42181.1	16q22	2012-08-23			ENSG00000102977	ENSG00000102977			25070	protein-coding gene	gene with protein product	"""TIN2 interacting protein 1"", ""POT1 and TIN2 organizing protein"""	609377				15231715, 15181449	Standard	NM_001082486		Approved	Ptop, Pip1, Tpp1, Tint1	uc002etq.4	Q96AP0	OTTHUMG00000137547	ENST00000393919.4:c.1223C>T	16.37:g.67692130G>A	ENSP00000377496:p.Ala408Val		Q562H5|Q9H8F9	Missense_Mutation	SNP	ENST00000393919.4	37	CCDS42181.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040433	0.35989	.	.	ENSG00000102977	ENST00000219251;ENST00000393919	T;T	0.36520	1.25;1.25	3.74	1.58	0.23477	.	0.946614	0.08798	N	0.892166	T	0.19046	0.0457	N	0.14661	0.345	0.09310	N	1	B;B	0.16396	0.01;0.017	B;B	0.12156	0.003;0.007	T	0.22941	-1.0202	10	0.29301	T	0.29	-0.7539	4.0071	0.09607	0.1252:0.0:0.6425:0.2323	.	408;405	Q96AP0;Q96AP0-2	ACD_HUMAN;.	V	405;408	ENSP00000219251:A405V;ENSP00000377496:A408V	ENSP00000219251:A405V	A	-	2	0	ACD	66249631	0.004000	0.15560	0.035000	0.18076	0.171000	0.22731	1.183000	0.32041	0.919000	0.36945	0.462000	0.41574	GCC		0.662	ACD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268880.1		NM_022914	
ADAMTS20	80070	broad.mit.edu	37	12	43822466	43822466	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr12:43822466C>A	ENST00000389420.3	-	25	3625	c.3626G>T	c.(3625-3627)gGa>gTa	p.G1209V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G1209V|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G327V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1209	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G1209V(1)|p.W1209L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGCCACTCTCCACAAGGGGT	0.353																																																	2	Substitution - Missense(2)	kidney(2)											58.0	53.0	55.0					12																	43822466		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3626G>T	12.37:g.43822466C>A	ENSP00000374071:p.Gly1209Val		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588576	0.86851	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.2	5.2	0.72013	.	0.000000	0.49916	D	0.000140	T	0.76385	0.3980	M	0.71920	2.185	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.97110	0.78;1.0	T	0.76132	-0.3071	10	0.51188	T	0.08	.	19.6349	0.95726	0.0:1.0:0.0:0.0	.	1209;327	P59510;E9PBD5	ATS20_HUMAN;.	V	1209;339;327;1209;1209	ENSP00000374071:G1209V;ENSP00000447427:G339V;ENSP00000378911:G327V;ENSP00000448341:G1209V	ENSP00000374068:G1209V	G	-	2	0	ADAMTS20	42108733	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.699000	0.68310	2.803000	0.96430	0.585000	0.79938	GGA		0.353	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003	
ATP11A	23250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	113485756	113485756	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr13:113485756G>A	ENST00000487903.1	+	13	1377	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	ATP11A_ENST00000375630.2_Missense_Mutation_p.C430Y|ATP11A_ENST00000375645.3_Missense_Mutation_p.C430Y|ATP11A_ENST00000283558.8_Missense_Mutation_p.C430Y			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	430					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.C430Y(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				AAGGAGTGCTGCATCGAAGGC	0.582																																																	2	Substitution - Missense(2)	kidney(2)											172.0	120.0	138.0					13																	113485756		2203	4300	6503	SO:0001583	missense	23250			AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.1289G>A	13.37:g.113485756G>A	ENSP00000420387:p.Cys430Tyr		Q5VXT2	Missense_Mutation	SNP	ENST00000487903.1	37	CCDS32011.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.64|16.64	3.179458|3.179458	0.57800|0.57800	.|.	.|.	ENSG00000068650|ENSG00000068650	ENST00000418678|ENST00000487903;ENST00000375630;ENST00000375645;ENST00000283558	.|T;T;T;T	.|0.64803	.|-0.12;-0.12;-0.12;-0.12	5.45|5.45	5.45|5.45	0.79879|0.79879	.|ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77391|0.77391	0.4123|0.4123	L|L	0.58428|0.58428	1.81|1.81	0.80722|0.80722	D|D	1|1	.|D;B;B	.|0.76494	.|0.999;0.082;0.015	.|D;B;B	.|0.75020	.|0.985;0.065;0.105	T|T	0.78999|0.78999	-0.1982|-0.1982	5|10	.|0.87932	.|D	.|0	.|.	19.2891|19.2891	0.94092|0.94092	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|430;430;430	.|E9PCW5;E9PEJ6;P98196	.|.;.;AT11A_HUMAN	T|Y	405|430	.|ENSP00000420387:C430Y;ENSP00000364781:C430Y;ENSP00000364796:C430Y;ENSP00000283558:C430Y	.|ENSP00000283558:C430Y	A|C	+|+	1|2	0|0	ATP11A|ATP11A	112533757|112533757	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.362000|7.362000	0.79507|0.79507	2.570000|2.570000	0.86706|0.86706	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.582	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3		NM_015205	
BRS3	680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	135570317	135570317	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chrX:135570317C>A	ENST00000370648.3	+	1	272	c.44C>A	c.(43-45)tCa>tAa	p.S15*	Z97632.1_ENST00000580943.1_RNA	NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	15					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)	p.S15*(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ACTTTAATTTCAATCACAAAT	0.388																																																	2	Substitution - Nonsense(2)	lung(1)|kidney(1)											85.0	73.0	77.0					X																	135570317		2203	4300	6503	SO:0001587	stop_gained	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.44C>A	X.37:g.135570317C>A	ENSP00000359682:p.Ser15*			Nonsense_Mutation	SNP	ENST00000370648.3	37	CCDS14656.1	.	.	.	.	.	.	.	.	.	.	C	35	5.442435	0.96187	.	.	ENSG00000102239	ENST00000370648	.	.	.	6.03	3.97	0.46021	.	0.782790	0.11498	N	0.558009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0184	8.5319	0.33340	0.1294:0.7132:0.0:0.1574	.	.	.	.	X	15	.	ENSP00000359682:S15X	S	+	2	0	BRS3	135397983	0.997000	0.39634	0.975000	0.42487	0.986000	0.74619	1.419000	0.34793	1.300000	0.44818	0.600000	0.82982	TCA		0.388	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059005.1		NM_001727	
HEATR4	399671	hgsc.bcm.edu	37	14	73957981	73957982	+	Intron	INS	-	-	C	rs150704374|rs386381768		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr14:73957981_73957982insC	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGCGGTGGCGGCGTCCCGGACG	0.757													CC|C|CC|deletion	5008	1.0	1.0	1.0	5008	,	,		10060	1.0		1.0	False		,,,				2504	1.0																0									,,	3399,47		1685,29,9					,,	1.1	0.0		dbSNP_130	8	7363,105		3646,71,17	no	intron,frameshift,intron	C14orf169,HEATR4	NM_203309.2,NM_024644.2,NM_001220484.1	,,	5331,100,26	A1A1,A1R,RR		1.406,1.3639,1.3927	,,	,,		10762,152				SO:0001627	intron_variant	79697			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1787->G	14.37:g.73957982_73957982dupC			B7Z7V9|E9KL41	Frame_Shift_Ins	INS	ENST00000553558.1	37	CCDS9815.2																																																																																				0.757	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2		NM_203309	
CAPN3	825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42652148	42652148	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr15:42652148C>T	ENST00000397163.3	+	1	364	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.R49C|CAPN3_ENST00000349748.3_Missense_Mutation_p.R49C|CAPN3_ENST00000357568.3_Missense_Mutation_p.R49C	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	49					apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R49C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATCATCAGCCGCAATTTTCC	0.522																																																	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM076055	CAPN3	M							123.0	139.0	134.0					15																	42652148		2203	4299	6502	SO:0001583	missense	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.145C>T	15.37:g.42652148C>T	ENSP00000380349:p.Arg49Cys		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969580	0.74246	.	.	ENSG00000092529	ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D	0.97480	-4.4;-4.4;-4.4;-4.4	5.98	5.01	0.66863	.	0.182443	0.37483	U	0.002080	D	0.96778	0.8948	L	0.27053	0.805	0.50813	D	0.999894	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.988;0.999	D	0.96743	0.9548	10	0.87932	D	0	.	13.8374	0.63417	0.2674:0.7326:0.0:0.0	.	49;49;49	P20807-2;P20807-3;P20807	.;.;CAN3_HUMAN	C	49	ENSP00000380349:R49C;ENSP00000350181:R49C;ENSP00000183936:R49C;ENSP00000326281:R49C	ENSP00000326281:R49C	R	+	1	0	CAPN3	40439440	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.004000	0.40854	2.838000	0.97847	0.655000	0.94253	CGC		0.522	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			
CHIA	27159	broad.mit.edu;hgsc.bcm.edu	37	1	111857933	111857933	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:111857933T>C	ENST00000369740.1	+	6	459	c.356T>C	c.(355-357)tTc>tCc	p.F119S	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.F11S|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000343320.6_Missense_Mutation_p.F119S	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	119					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.F119S(1)|p.F11S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CGCCAGACTTTCATCACCTCA	0.542																																																	2	Substitution - Missense(2)	kidney(2)											127.0	124.0	125.0					1																	111857933		2203	4300	6503	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.356T>C	1.37:g.111857933T>C	ENSP00000358755:p.Phe119Ser		Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.277787	0.80692	.	.	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320;ENST00000430615	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	4.72	4.72	0.59763	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.074511	0.52532	D	0.000070	T	0.55049	0.1896	H	0.99642	4.675	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75320	-0.3359	10	0.72032	D	0.01	-25.0273	12.4506	0.55675	0.0:0.0:0.0:1.0	.	119	Q9BZP6	CHIA_HUMAN	S	63;119;119;11	ENSP00000387671:F63S;ENSP00000358755:F119S;ENSP00000341828:F119S;ENSP00000391132:F11S	ENSP00000341828:F119S	F	+	2	0	CHIA	111659456	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	7.160000	0.77495	1.885000	0.54596	0.533000	0.62120	TTC		0.542	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1			
CD1C	911	hgsc.bcm.edu;ucsc.edu	37	1	158262061	158262061	+	Silent	SNP	C	C	T	rs142044323	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:158262061C>T	ENST00000368170.3	+	3	795	c.516C>T	c.(514-516)ggC>ggT	p.G172G		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	172					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					AGTATGAAGGCGTCACAGAAA	0.458													c|||	3	0.000599042	0.0023	0.0	5008	,	,		19173	0.0		0.0	False		,,,				2504	0.0																0								T		13,4393		0,13,2190	279.0	278.0	278.0		516	0.3	0.0	1	dbSNP_134	278	1,8599		0,1,4299	no	coding-synonymous	CD1C	NM_001765.2		0,14,6489	TT,TC,CC		0.0116,0.2951,0.1076		172/334	158262061	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	911			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.516C>T	1.37:g.158262061C>T			Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Silent	SNP	ENST00000368170.3	37	CCDS1175.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	-	3.265	-0.150454	0.06585	0.002951	1.16E-4	ENSG00000158481	ENST00000443761	.	.	.	3.36	0.319	0.15873	.	.	.	.	.	T	0.07999	0.0200	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34601	-0.9822	4	.	.	.	.	2.2955	0.04149	0.196:0.5015:0.1904:0.1121	.	.	.	.	C	107	.	.	R	+	1	0	CD1C	156528685	0.000000	0.05858	0.002000	0.10522	0.042000	0.13812	-0.324000	0.07986	0.082000	0.17018	-0.133000	0.14855	CGT		0.458	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2		NM_001765	
CRTAC1	55118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	99640010	99640010	+	Silent	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr10:99640010G>A	ENST00000370597.3	-	14	2170	c.1815C>T	c.(1813-1815)tgC>tgT	p.C605C	CRTAC1_ENST00000370591.2_Silent_p.C605C|CRTAC1_ENST00000298819.4_Missense_Mutation_p.A591V|CRTAC1_ENST00000468549.1_5'Flank	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	605	EGF-like.					extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.C605C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTCACCCACGCAGGCTGTGC	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	74.0	76.0					10																	99640010		2203	4300	6503	SO:0001819	synonymous_variant	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1815C>T	10.37:g.99640010G>A			B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	ENST00000370597.3	37	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978680	0.18812	.	.	ENSG00000095713	ENST00000413387;ENST00000298819	T;T	0.35605	1.3;1.33	4.56	-2.11	0.07187	.	.	.	.	.	T	0.29355	0.0731	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11299	-1.0593	8	0.87932	D	0	-11.2329	12.8464	0.57831	0.4649:0.0:0.5351:0.0	.	487	Q5T4F6	.	V	487;591	ENSP00000408445:A487V;ENSP00000298819:A591V	ENSP00000298819:A591V	A	-	2	0	CRTAC1	99630000	0.992000	0.36948	0.988000	0.46212	0.450000	0.32258	0.426000	0.21363	-0.594000	0.05836	-1.455000	0.01032	GCG		0.602	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1		NM_018058	
CTNNA2	1496	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	80782891	80782891	+	Silent	SNP	G	G	T	rs374667703		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr2:80782891G>T	ENST00000402739.4	+	11	1619	c.1614G>T	c.(1612-1614)cgG>cgT	p.R538R	CTNNA2_ENST00000466387.1_Silent_p.R538R|CTNNA2_ENST00000540488.1_Silent_p.R538R|CTNNA2_ENST00000343114.3_Silent_p.R217R|CTNNA2_ENST00000496558.1_Silent_p.R538R|CTNNA2_ENST00000361291.4_Silent_p.R572R|CTNNA2_ENST00000541047.1_Silent_p.R538R	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	538					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.R538R(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTCTGGACCGGACTGCAGGGG	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	83.0	84.0					2																	80782891		1877	4111	5988	SO:0001819	synonymous_variant	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1614G>T	2.37:g.80782891G>T			B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Silent	SNP	ENST00000402739.4	37																																																																																					0.507	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4		NM_004389	
DCAF8L1	139425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	27997690	27997690	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chrX:27997690C>T	ENST00000441525.1	-	1	1876	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	588								p.E588K(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCTCCTCCTCGGATGTATCT	0.502																																																	1	Substitution - Missense(1)	kidney(1)											111.0	85.0	94.0					X																	27997690		2202	4300	6502	SO:0001583	missense	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1762G>A	X.37:g.27997690C>T	ENSP00000405222:p.Glu588Lys		B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971566	0.34754	.	.	ENSG00000226372	ENST00000441525	T	0.65364	-0.15	0.842	0.842	0.18927	.	0.374885	0.22253	N	0.062525	T	0.52158	0.1717	M	0.74881	2.28	0.21933	N	0.999461	D	0.54601	0.967	B	0.39027	0.288	T	0.48636	-0.9018	10	0.24483	T	0.36	.	7.2758	0.26283	0.0:0.9999:0.0:1.0E-4	.	588	A6NGE4	DC8L1_HUMAN	K	588	ENSP00000405222:E588K	ENSP00000405222:E588K	E	-	1	0	DCAF8L1	27907611	0.910000	0.30920	0.066000	0.19879	0.075000	0.17131	0.894000	0.28350	0.691000	0.31592	0.284000	0.19432	GAG		0.502	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2		XM_066690	
DCLRE1B	64858	broad.mit.edu;hgsc.bcm.edu	37	1	114454408	114454408	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:114454408G>C	ENST00000369563.3	+	4	1640	c.1194G>C	c.(1192-1194)aaG>aaC	p.K398N	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	398					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|protection from non-homologous end joining at telomere (GO:0031848)|telomere maintenance (GO:0000723)|telomeric 3' overhang formation (GO:0031860)|telomeric loop formation (GO:0031627)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)	p.K398N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGATCAAGAAGCAGTTGTTCC	0.488								Other identified genes with known or suspected DNA repair function																																									1	Substitution - Missense(1)	kidney(1)											112.0	120.0	117.0					1																	114454408		2203	4300	6503	SO:0001583	missense	64858			BC029687	CCDS866.1	1p11.1	2010-06-24	2010-06-24		ENSG00000118655	ENSG00000118655			17641	protein-coding gene	gene with protein product	"""APOLLO"", ""PSO2 homolog (S. cerevisiae)"""	609683	"""DNA cross-link repair 1B (PSO2 homolog, S. cerevisiae)"""				Standard	NM_022836		Approved	SNM1B, FLJ12810, FLJ13998	uc001eeg.3	Q9H816	OTTHUMG00000011937	ENST00000369563.3:c.1194G>C	1.37:g.114454408G>C	ENSP00000358576:p.Lys398Asn		Q9H9E5	Missense_Mutation	SNP	ENST00000369563.3	37	CCDS866.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.138222	0.37728	.	.	ENSG00000118655	ENST00000369563	T	0.76839	-1.05	5.97	2.66	0.31614	.	0.514050	0.20190	N	0.097336	T	0.43853	0.1266	L	0.27053	0.805	0.35772	D	0.820967	P	0.38195	0.622	B	0.33750	0.169	T	0.49652	-0.8917	10	0.52906	T	0.07	0.0711	4.2288	0.10592	0.2157:0.1896:0.5947:0.0	.	398	Q9H816	DCR1B_HUMAN	N	398	ENSP00000358576:K398N	ENSP00000358576:K398N	K	+	3	2	DCLRE1B	114255931	0.984000	0.35163	0.997000	0.53966	0.452000	0.32318	0.364000	0.20325	1.471000	0.48121	0.655000	0.94253	AAG		0.488	DCLRE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033020.2		NM_022836	
DIP2C	22982	broad.mit.edu;hgsc.bcm.edu	37	10	332271	332271	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr10:332271C>T	ENST00000280886.6	-	34	4148	c.4061G>A	c.(4060-4062)cGg>cAg	p.R1354Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1354						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.R1354Q(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AATTATAATCCGAACCCCTGG	0.463																																																	1	Substitution - Missense(1)	kidney(1)											160.0	168.0	165.0					10																	332271		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.4061G>A	10.37:g.332271C>T	ENSP00000280886:p.Arg1354Gln		B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.918806	0.73098	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.40756	1.02	5.92	5.92	0.95590	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.34424	0.0897	L	0.33189	0.99	0.80722	D	1	B	0.26483	0.15	B	0.26202	0.067	T	0.16600	-1.0397	10	0.07813	T	0.8	-35.1959	20.3214	0.98679	0.0:1.0:0.0:0.0	.	1354	Q9Y2E4	DIP2C_HUMAN	Q	1354;279	ENSP00000280886:R1354Q	ENSP00000280886:R1354Q	R	-	2	0	DIP2C	322271	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	4.976000	0.63785	2.804000	0.96469	0.655000	0.94253	CGG		0.463	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1		NM_014974	
DNAH6	1768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	84780110	84780110	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr2:84780110G>C	ENST00000237449.6	+	9	1562	c.1554G>C	c.(1552-1554)atG>atC	p.M518I	DNAH6_ENST00000389394.3_Missense_Mutation_p.M518I|DNAH6_ENST00000398278.2_Missense_Mutation_p.M518I			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	518	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.M97I(1)|p.M518I(1)		NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAGAACTAATGTTGACAGTCC	0.393																																																	2	Substitution - Missense(2)	kidney(2)											188.0	182.0	184.0					2																	84780110		2203	4300	6503	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1554G>C	2.37:g.84780110G>C	ENSP00000237449:p.Met518Ile		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	37	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	G	1.065	-0.671692	0.03403	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.22134	1.97;2.1;1.97	5.31	-6.38	0.01957	.	0.463681	0.20139	N	0.098417	T	0.03827	0.0108	N	0.01352	-0.895	0.18873	N	0.999988	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33548	-0.9864	10	0.13853	T	0.58	.	3.4858	0.07619	0.096:0.1972:0.4132:0.2936	.	518;97	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	I	518	ENSP00000374045:M518I;ENSP00000381326:M518I;ENSP00000237449:M518I	ENSP00000237449:M518I	M	+	3	0	DNAH6	84633621	0.017000	0.18338	0.697000	0.30258	0.360000	0.29518	-0.856000	0.04290	-0.827000	0.04278	-1.097000	0.02148	ATG		0.393	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2		NM_001370	
EPN1	29924	broad.mit.edu	37	19	56204133	56204133	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr19:56204133C>G	ENST00000270460.6	+	8	1459	c.1148C>G	c.(1147-1149)cCt>cGt	p.P383R	EPN1_ENST00000085079.7_Missense_Mutation_p.P358R|AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Missense_Mutation_p.P469R	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	383	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P469R(1)|p.P383R(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGAGGGTCACCTGCCAAGCCC	0.632																																																	2	Substitution - Missense(2)	kidney(2)											11.0	14.0	13.0					19																	56204133		1928	4116	6044	SO:0001583	missense	29924			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1148C>G	19.37:g.56204133C>G	ENSP00000270460:p.Pro383Arg		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	C	9.894	1.205052	0.22205	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15603	2.46;2.44;2.41	3.44	1.24	0.21308	.	0.746779	0.12248	N	0.485853	T	0.26484	0.0647	L	0.39898	1.24	0.80722	D	1	P;P;P;D	0.76494	0.668;0.527;0.668;0.999	B;B;B;D	0.80764	0.352;0.193;0.352;0.994	T	0.08617	-1.0713	10	0.23891	T	0.37	-0.1205	7.5247	0.27647	0.0:0.7335:0.1676:0.0988	.	344;469;383;358	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	R	383;358;344;469	ENSP00000270460:P383R;ENSP00000085079:P358R;ENSP00000406209:P469R	ENSP00000085079:P358R	P	+	2	0	EPN1	60895945	0.980000	0.34600	0.516000	0.27786	0.011000	0.07611	3.236000	0.51336	0.282000	0.22254	0.462000	0.41574	CCT		0.632	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1		NM_013333	
BRINP3	339479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	190068174	190068174	+	Silent	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:190068174C>T	ENST00000367462.3	-	8	1506	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	BRINP3_ENST00000534846.1_Silent_p.S323S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	425					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.S425S(1)									GACACGTGCACGAGTGCGTCT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	41.0	45.0					1																	190068174		2203	4300	6503	SO:0001819	synonymous_variant	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1275G>A	1.37:g.190068174C>T			B3KVP1|B7Z260|O95726|Q2M330	Silent	SNP	ENST00000367462.3	37	CCDS1373.1																																																																																				0.567	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1		NM_199051	
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																																	2	Substitution - coding silent(2)	lung(1)|kidney(1)											17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1		NM_003890	
FCRL1	115350	broad.mit.edu	37	1	157789883	157789883	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:157789883C>T	ENST00000368176.3	-	0	12				FCRL1_ENST00000491942.1_5'Flank|FCRL1_ENST00000358292.3_5'Flank	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AAAGAATGCACCTCAGAGTCG	0.502																																					GBM(54;482 1003 11223 30131 35730)												0													65.0	60.0	61.0					1																	157789883		692	1591	2283			115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.-56G>A	1.37:g.157789883C>T			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Translation_Start_Site	SNP	ENST00000368176.3	37	CCDS1170.1																																																																																				0.502	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1		NM_052938	
FRMPD1	22844	broad.mit.edu;ucsc.edu	37	9	37733482	37733482	+	Silent	SNP	A	A	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr9:37733482A>G	ENST00000539465.1	+	11	1601	c.1008A>G	c.(1006-1008)ggA>ggG	p.G336G	FRMPD1_ENST00000377765.3_Silent_p.G336G|FRMPD1_ENST00000541302.1_Silent_p.G205G|FRMPD1_ENST00000536622.1_Silent_p.G158G|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	336	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.G336G(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AAGACTGGGGAATAGAGAACT	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											85.0	88.0	87.0					9																	37733482		2203	4300	6503	SO:0001819	synonymous_variant	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1008A>G	9.37:g.37733482A>G			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	ENST00000539465.1	37	CCDS6612.1																																																																																				0.413	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1		NM_014907	
GDA	9615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	74863196	74863196	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr9:74863196C>G	ENST00000358399.3	+	14	1396	c.1303C>G	c.(1303-1305)Cga>Gga	p.R435G	GDA_ENST00000238018.4_Missense_Mutation_p.R435G|GDA_ENST00000545168.1_Missense_Mutation_p.R361G|GDA_ENST00000376986.1_Missense_Mutation_p.R357G|GDA_ENST00000376989.3_Missense_Mutation_p.R374G	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	435					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.R435G(2)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGGAGATGATCGAAATATTGA	0.403																																																	2	Substitution - Missense(2)	kidney(2)											111.0	118.0	116.0					9																	74863196		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1303C>G	9.37:g.74863196C>G	ENSP00000351170:p.Arg435Gly		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627362	0.66901	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.67	5.67	0.87782	.	0.058866	0.64402	D	0.000002	D	0.84732	0.5537	M	0.92649	3.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.995;0.982;0.993	D	0.87590	0.2490	9	0.87932	D	0	-7.9726	12.2743	0.54726	0.1693:0.8307:0.0:0.0	.	357;435;435	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	G	361;435;374;357;435;143	.	ENSP00000238018:R435G	R	+	1	2	GDA	74053016	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.173000	0.50839	2.680000	0.91292	0.563000	0.77884	CGA		0.403	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1			
GFPT2	9945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	179745870	179745870	+	Missense_Mutation	SNP	C	C	T	rs375382535		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:179745870C>T	ENST00000253778.8	-	10	1050	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	294					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)	p.R294Q(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GCGCTTGACCCGGTGAATGGA	0.572																																																	1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	0,4266		0,0,2133	65.0	72.0	69.0		881	4.5	1.0	5		69	1,8469		0,1,4234	no	missense	GFPT2	NM_005110.2	43	0,1,6367	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	294/683	179745870	1,12735	2133	4235	6368	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.881G>A	5.37:g.179745870C>T	ENSP00000253778:p.Arg294Gln		Q53XM2|Q9BWS4	Missense_Mutation	SNP	ENST00000253778.8	37	CCDS43411.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232332	0.95207	0.0	1.18E-4	ENSG00000131459	ENST00000253778;ENST00000518906	T;T	0.77489	0.96;-1.1	5.39	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.89128	0.6627	M	0.91768	3.24	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	D	0.91274	0.5046	9	.	.	.	-11.9515	13.9353	0.64021	0.0:0.9267:0.0:0.0732	.	294	O94808	GFPT2_HUMAN	Q	294;196	ENSP00000253778:R294Q;ENSP00000431125:R196Q	.	R	-	2	0	GFPT2	179678476	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.711000	0.84669	1.295000	0.44724	0.555000	0.69702	CGG		0.572	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4		NM_005110	
HMOX1	3162	broad.mit.edu	37	22	35785885	35785885	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr22:35785885C>A	ENST00000216117.8	+	4	1004	c.665C>A	c.(664-666)aCc>aAc	p.T222N		NM_002133.2	NP_002124.1	P09601	HMOX1_HUMAN	heme oxygenase (decycling) 1	222					angiogenesis (GO:0001525)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to cadmium ion (GO:0071276)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient (GO:0031670)|endothelial cell proliferation (GO:0001935)|erythrocyte homeostasis (GO:0034101)|excretion (GO:0007588)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|iron ion homeostasis (GO:0055072)|low-density lipoprotein particle clearance (GO:0034383)|negative regulation of DNA binding (GO:0043392)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|protein homooligomerization (GO:0051260)|regulation of angiogenesis (GO:0045765)|regulation of blood pressure (GO:0008217)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to estrogen (GO:0043627)|response to hydrogen peroxide (GO:0042542)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|smooth muscle hyperplasia (GO:0014806)|transmembrane transport (GO:0055085)|wound healing involved in inflammatory response (GO:0002246)	caveola (GO:0005901)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)|phospholipase D activity (GO:0004630)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.T222N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					Vitamin E(DB00163)	GAGCTGCTGACCCATGACACC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											68.0	63.0	65.0					22																	35785885		2203	4300	6503	SO:0001583	missense	3162				CCDS13914.1	22q12	2003-10-13			ENSG00000100292	ENSG00000100292	1.14.99.3		5013	protein-coding gene	gene with protein product		141250				10591208	Standard	NM_002133		Approved	bK286B10, HO-1	uc003ant.2	P09601	OTTHUMG00000150960	ENST00000216117.8:c.665C>A	22.37:g.35785885C>A	ENSP00000216117:p.Thr222Asn			Missense_Mutation	SNP	ENST00000216117.8	37	CCDS13914.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823397	0.32237	.	.	ENSG00000100292	ENST00000216117	T	0.23348	1.91	5.33	1.97	0.26223	Haem oxygenase-like, multi-helical (2);	1.590510	0.02872	N	0.131665	T	0.22781	0.0550	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16070	-1.0415	10	0.29301	T	0.29	-8.1665	4.5336	0.12017	0.1593:0.6037:0.1537:0.0833	.	222	P09601	HMOX1_HUMAN	N	222	ENSP00000216117:T222N	ENSP00000216117:T222N	T	+	2	0	HMOX1	34115885	0.001000	0.12720	0.027000	0.17364	0.172000	0.22775	-0.006000	0.12833	0.197000	0.20387	0.655000	0.94253	ACC		0.562	HMOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320657.1			
HTR4	3360	hgsc.bcm.edu	37	5	147889404	147889404	+	Missense_Mutation	SNP	G	G	A	rs140360260		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:147889404G>A	ENST00000377888.3	-	6	829	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	HTR4_ENST00000354217.2_Missense_Mutation_p.R231W|HTR4_ENST00000362016.2_Missense_Mutation_p.R245W|HTR4_ENST00000360693.3_Missense_Mutation_p.R231W|HTR4_ENST00000520514.1_Missense_Mutation_p.R231W|HTR4_ENST00000521735.1_Missense_Mutation_p.R231W|HTR4_ENST00000314512.6_Missense_Mutation_p.R231W|HTR4_ENST00000517929.1_Missense_Mutation_p.R231W|HTR4_ENST00000521530.1_Missense_Mutation_p.R231W	NM_000870.5	NP_000861.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	231					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|regulation of appetite (GO:0032098)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cinitapride(DB08810)|Cisapride(DB00604)|Ergoloid mesylate(DB01049)|Metoclopramide(DB01233)|Ondansetron(DB00904)	GCTCCTGCCCGTTGTAACATC	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21647	0.0		0.0	False		,,,				2504	0.0				GBM(120;370 1604 14007 17804 41573)												0								G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	4,4402	8.1+/-20.4	0,4,2199	100.0	82.0	88.0		691,691,691,691,691	4.2	1.0	5	dbSNP_134	88	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense,missense	HTR4	NM_000870.5,NM_001040169.2,NM_001040172.2,NM_001040173.2,NM_199453.3	101,101,101,101,101	0,7,6496	AA,AG,GG		0.0349,0.0908,0.0538	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	231/389,231/388,231/361,231/429,231/379	147889404	7,12999	2203	4300	6503	SO:0001583	missense	3360			Y08756	CCDS4291.1, CCDS34270.1, CCDS34271.1, CCDS34272.1, CCDS34273.1, CCDS34273.2, CCDS75353.1	5q31-q33	2012-08-08	2012-02-03		ENSG00000164270	ENSG00000164270		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5299	protein-coding gene	gene with protein product		602164	"""5-hydroxytryptamine (serotonin) receptor 4"""			9371406, 9276448	Standard	NM_199453		Approved	5-HT4	uc021yfj.1	Q13639	OTTHUMG00000129931	ENST00000377888.3:c.691C>T	5.37:g.147889404G>A	ENSP00000367120:p.Arg231Trp		C4WYH4|Q546Q1|Q684M0|Q712M9|Q96KH9|Q96KI0|Q9H199|Q9NY73|Q9UBM6|Q9UBT4|Q9UE22|Q9UE23|Q9UQR6	Missense_Mutation	SNP	ENST00000377888.3	37	CCDS4291.1	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	13.61	2.288194	0.40494	9.08E-4	3.49E-4	ENSG00000164270	ENST00000521530;ENST00000354217;ENST00000314512;ENST00000521735;ENST00000517929;ENST00000520514;ENST00000377888;ENST00000360693;ENST00000362016	T;T;T;T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	6.17	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	U	0.000153	D	0.83727	0.5317	M	0.85462	2.755	0.58432	D	0.999996	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.994;0.999;0.995;0.995;0.997	D	0.85713	0.1320	10	0.87932	D	0	.	10.3939	0.44190	0.0734:0.0:0.7261:0.2005	.	231;231;231;245;231;231;231	C4WYH4;Q13639;Q712M9;Q13639-6;Q13639-3;Q13639-2;Q684M0	.;5HT4R_HUMAN;.;.;.;.;.	W	231;231;231;231;231;231;231;231;245	ENSP00000428320:R231W;ENSP00000346156:R231W;ENSP00000314906:R231W;ENSP00000430979:R231W;ENSP00000435904:R231W;ENSP00000427913:R231W;ENSP00000367120:R231W;ENSP00000353915:R231W;ENSP00000355037:R245W	ENSP00000314906:R231W	R	-	1	2	HTR4	147869597	1.000000	0.71417	0.997000	0.53966	0.007000	0.05969	3.925000	0.56484	1.632000	0.50472	-0.140000	0.14226	CGG		0.547	HTR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252187.2		NM_000870	
IARS2	55699	broad.mit.edu	37	1	220318982	220318982	+	Silent	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:220318982C>T	ENST00000302637.5	+	22	2987	c.2883C>T	c.(2881-2883)ctC>ctT	p.L961L	IARS2_ENST00000366922.1_Silent_p.L889L	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	961					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.L961L(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GGAAATTCCTCATCAACTTAG	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											52.0	48.0	50.0					1																	220318982		2203	4300	6503	SO:0001819	synonymous_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2883C>T	1.37:g.220318982C>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	CCDS1523.1																																																																																				0.388	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_018060	
IFNA16	3449	broad.mit.edu	37	9	21217253	21217253	+	Missense_Mutation	SNP	A	A	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr9:21217253A>C	ENST00000380216.1	-	1	57	c.52T>G	c.(52-54)Tcc>Gcc	p.S18A		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	18					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)	p.S18A(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GAACAGATGGATTTGTAGCTG	0.488																																																	1	Substitution - Missense(1)	kidney(1)											79.0	79.0	79.0					9																	21217253		2203	4300	6503	SO:0001583	missense	3449				CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.52T>G	9.37:g.21217253A>C	ENSP00000369564:p.Ser18Ala		Q5VV12	Missense_Mutation	SNP	ENST00000380216.1	37	CCDS34996.1	.	.	.	.	.	.	.	.	.	.	-	4.693	0.128936	0.08981	.	.	ENSG00000147885	ENST00000380216	T	0.02916	4.11	2.62	-5.24	0.02789	Four-helical cytokine-like, core (1);	0.496524	0.19280	N	0.118200	T	0.03011	0.0089	M	0.66939	2.045	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.36163	-0.9759	10	0.24483	T	0.36	.	6.304	0.21129	0.1647:0.4893:0.0:0.3459	.	18	P05015	IFN16_HUMAN	A	18	ENSP00000369564:S18A	ENSP00000369564:S18A	S	-	1	0	IFNA16	21207253	0.000000	0.05858	0.000000	0.03702	0.269000	0.26545	-3.130000	0.00591	-2.638000	0.00430	0.155000	0.16302	TCC		0.488	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1		NM_002173	
KIF18A	81930	hgsc.bcm.edu;ucsc.edu	37	11	28058129	28058129	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:28058129delT	ENST00000263181.6	-	14	2321	c.2031delA	c.(2029-2031)aaafs	p.K677fs		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	677					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 metaphase plate congression (GO:0007080)|protein transport (GO:0015031)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore microtubule (GO:0005828)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|ruffle (GO:0001726)	actin binding (GO:0003779)|ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|plus-end-directed microtubule motor activity (GO:0008574)|tubulin-dependent ATPase activity (GO:0070463)|ubiquitin binding (GO:0043130)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TATGCTGTCCTTTCAAGGGAG	0.378																																																	0													75.0	74.0	74.0					11																	28058129		2202	4297	6499	SO:0001589	frameshift_variant	81930			AL136819	CCDS7867.1	11p14.1	2014-06-12			ENSG00000121621	ENSG00000121621		"""Kinesins"""	29441	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 99"""	611271				11230166	Standard	NM_031217		Approved	DKFZP434G2226, PPP1R99	uc001msc.2	Q8NI77	OTTHUMG00000166195	ENST00000263181.6:c.2031delA	11.37:g.28058129delT	ENSP00000263181:p.Lys677fs		Q4VPE3|Q86VS5|Q9H0F3	Frame_Shift_Del	DEL	ENST00000263181.6	37	CCDS7867.1																																																																																				0.378	KIF18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388328.3		NM_031217	
KIF2A	3796	broad.mit.edu	37	5	61649100	61649100	+	Splice_Site	SNP	A	A	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:61649100A>G	ENST00000401507.3	+	6	768		c.e6-1		KIF2A_ENST00000381103.2_Splice_Site|KIF2A_ENST00000506857.1_Splice_Site|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000407818.3_Splice_Site	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.?(2)		NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		TTTTCTTTTCAGCACGTAGAA	0.318																																																	2	Unknown(2)	kidney(2)											37.0	39.0	39.0					5																	61649100		2201	4294	6495	SO:0001630	splice_region_variant	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.458-1A>G	5.37:g.61649100A>G			A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Splice_Site	SNP	ENST00000401507.3	37	CCDS3980.2	.	.	.	.	.	.	.	.	.	.	A	18.77	3.694775	0.68386	.	.	ENSG00000068796	ENST00000401507;ENST00000381103;ENST00000514082;ENST00000407818;ENST00000506857	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3641	0.74507	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF2A	61684857	1.000000	0.71417	0.996000	0.52242	0.864000	0.49448	6.514000	0.73746	2.092000	0.63282	0.477000	0.44152	.		0.318	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317989.1		NM_004520	Intron
LYST	1130	hgsc.bcm.edu;ucsc.edu	37	1	235950642	235950643	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:235950642_235950643insT	ENST00000389794.3	-	14	4893_4894	c.4719_4720insA	c.(4717-4722)aaagctfs	p.A1574fs	LYST_ENST00000389793.2_Frame_Shift_Ins_p.A1574fs|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1574					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGTAAAACAGCTTTCATGTCAT	0.386																																																	0																																										SO:0001589	frameshift_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4720dupA	1.37:g.235950645_235950645dupT	ENSP00000374444:p.Ala1574fs		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Frame_Shift_Ins	INS	ENST00000389794.3	37	CCDS31062.1																																																																																				0.386	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			
MANEA	79694	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	96053676	96053676	+	Missense_Mutation	SNP	C	C	G	rs201268456		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:96053676C>G	ENST00000358812.4	+	5	918	c.784C>G	c.(784-786)Ctt>Gtt	p.L262V	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	262	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.L262V(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TGGCAATGCTCTTCCTATGTT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											114.0	110.0	112.0					6																	96053676		2203	4300	6503	SO:0001583	missense	79694			AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.784C>G	6.37:g.96053676C>G	ENSP00000351669:p.Leu262Val		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314137	0.60414	.	.	ENSG00000172469	ENST00000358812	D	0.93366	-3.21	6.16	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.94489	0.8226	M	0.87682	2.9	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	D	0.92585	0.6078	10	0.02654	T	1	-25.321	11.132	0.48351	0.0:0.8605:0.0:0.1395	.	262	Q5SRI9	MANEA_HUMAN	V	262	ENSP00000351669:L262V	ENSP00000351669:L262V	L	+	1	0	MANEA	96160397	0.978000	0.34361	0.972000	0.41901	0.563000	0.35712	2.468000	0.45102	2.937000	0.99478	0.650000	0.86243	CTT		0.368	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1		NM_024641	
MAP3K10	4294	broad.mit.edu	37	19	40720964	40720964	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr19:40720964G>T	ENST00000253055.3	+	10	2918	c.2630G>T	c.(2629-2631)cGc>cTc	p.R877L		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	877					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.R877L(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TTCCCAGGCCGCCCCACCACC	0.711																																																	1	Substitution - Missense(1)	kidney(1)											9.0	13.0	11.0					19																	40720964		2166	4241	6407	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.2630G>T	19.37:g.40720964G>T	ENSP00000253055:p.Arg877Leu		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.242042	0.79912	.	.	ENSG00000130758	ENST00000253055	D	0.81739	-1.53	4.67	3.64	0.41730	.	0.000000	0.85682	D	0.000000	T	0.73916	0.3648	L	0.59436	1.845	0.44282	D	0.997147	P	0.48407	0.91	B	0.38056	0.264	T	0.76578	-0.2908	10	0.87932	D	0	.	10.6105	0.45419	0.0938:0.0:0.9062:0.0	.	877	Q02779	M3K10_HUMAN	L	877	ENSP00000253055:R877L	ENSP00000253055:R877L	R	+	2	0	MAP3K10	45412804	1.000000	0.71417	0.998000	0.56505	0.877000	0.50540	3.850000	0.55918	1.204000	0.43247	0.561000	0.74099	CGC		0.711	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1		NM_002446	
HTR2C	3358	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	113949683	113949683	+	Intron	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chrX:113949683G>T	ENST00000276198.1	+	3	649				MIR1298_ENST00000408783.1_RNA|HTR2C_ENST00000371950.3_Intron|HTR2C_ENST00000371951.1_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGCTGTCCAGATGTATCCAA	0.433																																																	0													151.0	133.0	139.0					X																	113949683		1568	3582	5150	SO:0001627	intron_variant	100302153				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.-79-11584G>T	X.37:g.113949683G>T			B1AMW4|Q5VUF8|Q9NP28	RNA	SNP	ENST00000276198.1	37	CCDS14564.1																																																																																				0.433	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057962.1		NM_000868	
MMP14	4323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23310798	23310798	+	Missense_Mutation	SNP	G	G	T	rs201672796		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr14:23310798G>T	ENST00000311852.6	+	2	468	c.207G>T	c.(205-207)caG>caT	p.Q69H	MMP14_ENST00000548162.1_3'UTR	NM_004995.2	NP_004986.1	P50281	MMP14_HUMAN	matrix metallopeptidase 14 (membrane-inserted)	69					angiogenesis (GO:0001525)|astrocyte cell migration (GO:0043615)|branching morphogenesis of an epithelial tube (GO:0048754)|chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|endodermal cell differentiation (GO:0035987)|endothelial cell proliferation (GO:0001935)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|male gonad development (GO:0008584)|negative regulation of focal adhesion assembly (GO:0051895)|ovarian follicle development (GO:0001541)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|tissue remodeling (GO:0048771)|zymogen activation (GO:0031638)	extracellular matrix (GO:0031012)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|peptidase activator activity (GO:0016504)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.Q69H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)	Marimastat(DB00786)	CTGCCATGCAGAAGTTTTACG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											99.0	77.0	84.0					14																	23310798		2203	4300	6503	SO:0001583	missense	4323				CCDS9577.1	14q11-q12	2011-06-29	2005-08-08		ENSG00000157227	ENSG00000157227			7160	protein-coding gene	gene with protein product	"""membrane type 1 metalloprotease"""	600754	"""matrix metalloproteinase 14 (membrane-inserted)"""			8015608	Standard	NM_004995		Approved	MT1-MMP	uc001whc.3	P50281	OTTHUMG00000028704	ENST00000311852.6:c.207G>T	14.37:g.23310798G>T	ENSP00000308208:p.Gln69His		A8K5L0|Q6GSF3|Q92678	Missense_Mutation	SNP	ENST00000311852.6	37	CCDS9577.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488704	0.84962	.	.	ENSG00000157227	ENST00000311852;ENST00000548761	D;D	0.85258	-1.96;-1.96	5.64	4.74	0.60224	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94614	0.8264	H	0.97852	4.09	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.94667	0.7853	10	0.87932	D	0	.	9.0713	0.36493	0.1718:0.0:0.8282:0.0	.	69	P50281	MMP14_HUMAN	H	69;75	ENSP00000308208:Q69H;ENSP00000446989:Q75H	ENSP00000308208:Q69H	Q	+	3	2	MMP14	22380638	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.820000	0.62671	1.351000	0.45789	0.650000	0.86243	CAG		0.562	MMP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071660.3		NM_004995	
MTERF3	51001	broad.mit.edu	37	8	97258647	97258647	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr8:97258647G>A	ENST00000287025.3	-	5	811	c.713C>T	c.(712-714)gCa>gTa	p.A238V	MTERFD1_ENST00000523821.1_Missense_Mutation_p.A238V|MTERFD1_ENST00000524341.1_Missense_Mutation_p.A48V|MTERFD1_ENST00000522822.1_Missense_Mutation_p.A117V	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		238					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.A238V(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGCAACATCTGCTTTACTGAA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											79.0	76.0	77.0					8																	97258647		2203	4300	6503	SO:0001583	missense	51001																														ENST00000287025.3:c.713C>T	8.37:g.97258647G>A	ENSP00000287025:p.Ala238Val		B3KMG6|G3V130|Q9Y301	Missense_Mutation	SNP	ENST00000287025.3	37	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066347	0.55539	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.11821	2.74;2.74;2.74;2.74	6.02	5.15	0.70609	.	0.335919	0.35262	N	0.003328	T	0.11410	0.0278	L	0.52759	1.655	0.32892	D	0.512001	P;P	0.36438	0.553;0.553	B;B	0.26517	0.07;0.07	T	0.16928	-1.0386	10	0.40728	T	0.16	-15.714	9.6098	0.39657	0.0708:0.0:0.7895:0.1396	.	238;238	E5RIK9;Q96E29	.;MTER1_HUMAN	V	238;117;48;238	ENSP00000429400:A238V;ENSP00000430138:A117V;ENSP00000429267:A48V;ENSP00000287025:A238V	ENSP00000287025:A238V	A	-	2	0	MTERFD1	97327823	1.000000	0.71417	0.987000	0.45799	0.996000	0.88848	4.668000	0.61568	1.552000	0.49463	0.650000	0.86243	GCA		0.348	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			
NFE2L1	4779	broad.mit.edu;ucsc.edu	37	17	46128663	46128663	+	Silent	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr17:46128663C>A	ENST00000362042.3	+	2	799	c.183C>A	c.(181-183)acC>acA	p.T61T	NFE2L1_ENST00000357480.5_Silent_p.T61T|NFE2L1_ENST00000585291.1_Silent_p.T61T|NFE2L1_ENST00000361665.3_Silent_p.T61T	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	61					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.T61T(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGGAATACCTTGGATGGCT	0.567																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	102.0	102.0					17																	46128663		2203	4300	6503	SO:0001819	synonymous_variant	4779			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.183C>A	17.37:g.46128663C>A			D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	CCDS11524.1																																																																																				0.567	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1		NM_003204	
SLC9B1	150159	hgsc.bcm.edu	37	4	103822483	103822484	+	Frame_Shift_Del	DEL	AC	AC	-	rs3974499		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr4:103822483_103822484delAC	ENST00000296422.7	-	12	1479_1480	c.1338_1339delGT	c.(1336-1341)gtgttafs	p.L447fs	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	447					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										AGAGGACCTAACACAGCCTGCA	0.386																																																	0																																										SO:0001589	frameshift_variant	0			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1338_1339delGT	4.37:g.103822485_103822486delAC	ENSP00000296422:p.Leu447fs		A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Frame_Shift_Del	DEL	ENST00000296422.7	37	CCDS34041.1																																																																																				0.386	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1		NM_139173	
NRBP2	340371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144920929	144920929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr8:144920929G>A	ENST00000442628.2	-	10	902	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	NRBP2_ENST00000327830.5_Nonsense_Mutation_p.Q12*	NM_178564.3	NP_848659.2			nuclear receptor binding protein 2									p.Q261*(1)		central_nervous_system(2)|kidney(1)|large_intestine(2)	5	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCATTGGTCTGGATTTCCAGT	0.637																																																	1	Substitution - Nonsense(1)	kidney(1)											52.0	50.0	50.0					8																	144920929		2203	4300	6503	SO:0001587	stop_gained	340371			BC037396	CCDS34959.1, CCDS34959.2	8q24.3	2005-01-24							19339	protein-coding gene	gene with protein product		615563				14702039	Standard	NM_178564		Approved	DKFZp434P086	uc011lkt.2	Q9NSY0		ENST00000442628.2:c.763C>T	8.37:g.144920929G>A	ENSP00000414055:p.Gln255*			Nonsense_Mutation	SNP	ENST00000442628.2	37	CCDS34959.2	.	.	.	.	.	.	.	.	.	.	G	37	6.529592	0.97641	.	.	ENSG00000185189	ENST00000442628;ENST00000327830;ENST00000530347	.	.	.	3.76	3.76	0.43208	.	0.385442	0.27155	U	0.020662	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-22.46	13.4471	0.61146	0.0:0.0:1.0:0.0	.	.	.	.	X	255;12;207	.	ENSP00000330271:Q12X	Q	-	1	0	NRBP2	144992917	1.000000	0.71417	0.999000	0.59377	0.844000	0.47949	7.707000	0.84623	1.839000	0.53478	0.549000	0.68633	CAG		0.637	NRBP2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382247.1		NM_178564	
OR10G7	390265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	123908892	123908892	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:123908892C>T	ENST00000330487.5	-	1	825	c.817G>A	c.(817-819)Gtt>Att	p.V273I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V273I(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTGTAGAAAACGGCCACAACC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											104.0	95.0	98.0					11																	123908892		2200	4299	6499	SO:0001583	missense	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.817G>A	11.37:g.123908892C>T	ENSP00000329689:p.Val273Ile		Q6IFE8	Missense_Mutation	SNP	ENST00000330487.5	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	C	0.044	-1.272474	0.01421	.	.	ENSG00000182634	ENST00000330487	T	0.00249	8.44	3.13	0.11	0.14611	GPCR, rhodopsin-like superfamily (1);	0.439409	0.16781	N	0.199788	T	0.00144	0.0004	L	0.33668	1.02	0.09310	N	1	B	0.14805	0.011	B	0.20577	0.03	T	0.18085	-1.0348	10	0.37606	T	0.19	.	6.1429	0.20269	0.0:0.5689:0.1503:0.2809	.	273	Q8NGN6	O10G7_HUMAN	I	273	ENSP00000329689:V273I	ENSP00000329689:V273I	V	-	1	0	OR10G7	123414102	0.000000	0.05858	0.886000	0.34754	0.039000	0.13416	-0.342000	0.07801	0.168000	0.19655	-1.334000	0.01262	GTT		0.512	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1		NM_001004463	
OR10K2	391107	broad.mit.edu;hgsc.bcm.edu	37	1	158390417	158390417	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:158390417C>A	ENST00000314902.2	-	1	239	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K80N(1)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					CAACCAGCATCTTGGGTACAA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											174.0	162.0	166.0					1																	158390417		2203	4300	6503	SO:0001583	missense	391107			AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.240G>T	1.37:g.158390417C>A	ENSP00000324251:p.Lys80Asn			Missense_Mutation	SNP	ENST00000314902.2	37	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345021	0.41498	.	.	ENSG00000180708	ENST00000314902	T	0.00469	7.21	4.1	3.17	0.36434	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000142	T	0.00440	0.0014	L	0.49513	1.565	0.27845	N	0.940944	D	0.89917	1.0	D	0.85130	0.997	T	0.52518	-0.8565	10	0.56958	D	0.05	.	10.985	0.47516	0.0:0.9046:0.0:0.0954	.	80	Q6IF99	O10K2_HUMAN	N	80	ENSP00000324251:K80N	ENSP00000324251:K80N	K	-	3	2	OR10K2	156657041	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.289000	0.08365	1.049000	0.40321	0.467000	0.42956	AAG		0.498	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1		NM_001004476	
OR5L1	219437	broad.mit.edu;hgsc.bcm.edu	37	11	55579228	55579228	+	Missense_Mutation	SNP	G	G	A	rs376731285		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:55579228G>A	ENST00000333973.2	+	1	375	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G96R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTCCTTCCTAGGGTGCATGGT	0.473																																																	1	Substitution - Missense(1)	kidney(1)						G	ARG/GLY	1,4399	2.1+/-5.4	0,1,2199	227.0	205.0	212.0		286	4.2	0.0	11		212	0,8592		0,0,4296	no	missense	OR5L1	NM_001004738.1	125	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	benign	96/312	55579228	1,12991	2200	4296	6496	SO:0001583	missense	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.286G>A	11.37:g.55579228G>A	ENSP00000335529:p.Gly96Arg		B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	13.84	2.357589	0.41801	2.27E-4	0.0	ENSG00000186117	ENST00000333973	T	0.09817	2.94	4.18	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.617496	0.14582	N	0.310798	T	0.15869	0.0382	L	0.58810	1.83	0.09310	N	1	B	0.23854	0.092	B	0.27262	0.078	T	0.11743	-1.0575	10	0.72032	D	0.01	-0.9521	15.1425	0.72620	0.0:0.0:1.0:0.0	.	96	Q8NGL2	OR5L1_HUMAN	R	96	ENSP00000335529:G96R	ENSP00000335529:G96R	G	+	1	0	OR5L1	55335804	0.790000	0.28787	0.002000	0.10522	0.114000	0.19823	4.336000	0.59304	1.880000	0.54463	0.435000	0.28638	GGG		0.473	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1		NM_001004738	
OR5W2	390148	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	55681565	55681565	+	Missense_Mutation	SNP	C	C	T	rs148084259		TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:55681565C>T	ENST00000344514.1	-	1	493	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R165H(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAAGCATAGGCGGAAGGCCAG	0.428																																					Melanoma(48;171 1190 15239 43886 49348)												4	Substitution - Missense(4)	cervix(1)|large_intestine(1)|stomach(1)|kidney(1)						C	HIS/ARG	2,4400	4.2+/-10.8	0,2,2199	87.0	77.0	80.0		494	1.5	0.0	11	dbSNP_134	80	0,8592		0,0,4296	yes	missense	OR5W2	NM_001001960.1	29	0,2,6495	TT,TC,CC		0.0,0.0454,0.0154	benign	165/311	55681565	2,12992	2201	4296	6497	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.494G>A	11.37:g.55681565C>T	ENSP00000342448:p.Arg165His			Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	3.073	-0.190656	0.06299	4.54E-4	0.0	ENSG00000187612	ENST00000344514	T	0.00169	8.63	4.77	1.52	0.23074	GPCR, rhodopsin-like superfamily (1);	0.602095	0.13398	N	0.390838	T	0.00144	0.0004	L	0.35341	1.055	0.09310	N	1	B	0.13145	0.007	B	0.15870	0.014	T	0.18085	-1.0348	10	0.41790	T	0.15	.	5.688	0.17813	0.0:0.5609:0.1582:0.2809	.	165	Q8NH69	OR5W2_HUMAN	H	165	ENSP00000342448:R165H	ENSP00000342448:R165H	R	-	2	0	OR5W2	55438141	0.000000	0.05858	0.019000	0.16419	0.048000	0.14542	-3.276000	0.00530	0.435000	0.26365	0.549000	0.68633	CGC		0.428	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1		NM_001001960	
PCDH10	57575	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	134071474	134071474	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr4:134071474G>A	ENST00000264360.5	+	1	1005	c.179G>A	c.(178-180)aGg>aAg	p.R60K	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	60	Cadherin 1. {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.R60K(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)		CCCAACTCAAGGACCCCTTAC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											94.0	96.0	96.0					4																	134071474		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.179G>A	4.37:g.134071474G>A	ENSP00000264360:p.Arg60Lys		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665637	0.29604	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.26810	1.71	4.77	4.77	0.60923	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.000000	0.41605	D	0.000843	T	0.38825	0.1055	L	0.35542	1.07	0.50171	D	0.999858	D;B	0.52996	0.957;0.008	D;B	0.72075	0.976;0.064	T	0.04708	-1.0932	10	0.17832	T	0.49	.	17.5654	0.87918	0.0:0.0:1.0:0.0	.	60;60	Q9P2E7;Q96SF0	PCD10_HUMAN;.	K	60	ENSP00000264360:R60K	ENSP00000264360:R60K	R	+	2	0	PCDH10	134290924	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.674000	0.83992	2.462000	0.83206	0.555000	0.69702	AGG		0.527	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2		NM_032961	
PCDHGC4	56098	broad.mit.edu;hgsc.bcm.edu	37	5	140865503	140865503	+	Missense_Mutation	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:140865503G>T	ENST00000306593.1	+	1	763	c.763G>T	c.(763-765)Gca>Tca	p.A255S	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1	Q9Y5F7	PCDGL_HUMAN	protocadherin gamma subfamily C, 4	255	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.A255S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGAGAGCGCACCAGCGGG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											56.0	60.0	59.0					5																	140865503		2203	4300	6503	SO:0001583	missense	56098			AF152525	CCDS4262.1, CCDS75349.1	5q31	2010-01-26			ENSG00000242419	ENSG00000242419		"""Cadherins / Protocadherins : Clustered"""	8717	other	protocadherin		606305				10380929	Standard	NM_018928		Approved	PCDH-GAMMA-C4		Q9Y5F7	OTTHUMG00000129625	ENST00000306593.1:c.763G>T	5.37:g.140865503G>T	ENSP00000306918:p.Ala255Ser		Q495T2|Q9Y5C3	Missense_Mutation	SNP	ENST00000306593.1	37	CCDS4262.1	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511239	0.12883	.	.	ENSG00000242419	ENST00000306593	T	0.01725	4.67	4.87	4.87	0.63330	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01870	0.0059	N	0.17564	0.495	0.09310	N	0.999999	P;B	0.44521	0.837;0.183	B;B	0.42851	0.4;0.116	T	0.58651	-0.7599	9	0.21540	T	0.41	.	13.9162	0.63899	0.0:0.0:0.8474:0.1526	.	255;255	Q9Y5F7-2;Q9Y5F7	.;PCDGL_HUMAN	S	255	ENSP00000306918:A255S	ENSP00000306918:A255S	A	+	1	0	PCDHGC4	140845687	0.000000	0.05858	0.970000	0.41538	0.968000	0.65278	0.687000	0.25407	2.528000	0.85240	0.462000	0.41574	GCA		0.577	PCDHGC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251820.1		NM_018928	
PDXDC1	23042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15129348	15129348	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr16:15129348A>G	ENST00000396410.4	+	22	2142	c.2045A>G	c.(2044-2046)cAa>cGa	p.Q682R	PDXDC1_ENST00000450288.2_Missense_Mutation_p.Q654R|PDXDC1_ENST00000447912.2_Missense_Mutation_p.Q591R|PDXDC1_ENST00000569715.1_Missense_Mutation_p.Q655R|PDXDC1_ENST00000563679.1_Missense_Mutation_p.Q700R|PDXDC1_ENST00000325823.7_Missense_Mutation_p.Q667R|PDXDC1_ENST00000535621.2_Intron	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	682					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.Q682R(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TACAAAGCACAAGGTGCAGGA	0.582																																																	1	Substitution - Missense(1)	kidney(1)											43.0	40.0	41.0					16																	15129348		2197	4300	6497	SO:0001583	missense	23042			AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.2045A>G	16.37:g.15129348A>G	ENSP00000379691:p.Gln682Arg		B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	37	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.501142	0.64298	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	T;T;T;T	0.72394	-0.65;-0.65;-0.65;-0.65	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.83238	0.5211	M	0.78637	2.42	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;P	0.65010	0.931;0.931;0.931;0.886	D	0.85575	0.1236	10	0.87932	D	0	-8.4431	15.3959	0.74794	1.0:0.0:0.0:0.0	.	654;591;654;682	E7EPL4;E7EMH5;B4DR55;Q6P996	.;.;.;PDXD1_HUMAN	R	667;591;682;654	ENSP00000322807:Q667R;ENSP00000400310:Q591R;ENSP00000379691:Q682R;ENSP00000391147:Q654R	ENSP00000322807:Q667R	Q	+	2	0	PDXDC1	15036849	1.000000	0.71417	0.986000	0.45419	0.163000	0.22366	5.855000	0.69510	2.231000	0.72958	0.460000	0.39030	CAA		0.582	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2		NM_015027	
PI16	221476	broad.mit.edu;ucsc.edu	37	6	36922579	36922579	+	Silent	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:36922579C>T	ENST00000373674.3	+	1	371	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	15					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.L15L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						gctgccgctactgctactgct	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											47.0	48.0	48.0					6																	36922579		2203	4300	6503	SO:0001819	synonymous_variant	221476				CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.43C>T	6.37:g.36922579C>T			Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Silent	SNP	ENST00000373674.3	37	CCDS34440.1																																																																																				0.602	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1		NM_153370	
PLAUR	5329	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44160640	44160640	+	Missense_Mutation	SNP	C	C	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr19:44160640C>T	ENST00000340093.3	-	4	692	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	PLAUR_ENST00000339082.3_Missense_Mutation_p.G155S|PLAUR_ENST00000221264.4_Missense_Mutation_p.G155S|PLAUR_ENST00000601723.1_Missense_Mutation_p.G155S	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	155	UPAR/Ly6 2.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.G155S(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCTTCTTCACCTTCCTGGATC	0.577																																																	2	Substitution - Missense(2)	kidney(2)											153.0	146.0	148.0					19																	44160640		2203	4300	6503	SO:0001583	missense	5329				CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.463G>A	19.37:g.44160640C>T	ENSP00000339328:p.Gly155Ser		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Missense_Mutation	SNP	ENST00000340093.3	37	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.492893	0.26774	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	T;T;T	0.28666	1.6;1.6;1.6	1.23	1.23	0.21249	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);	0.302701	0.18554	U	0.137822	T	0.13415	0.0325	N	0.08118	0	0.28777	N	0.90007	B;B;B;B	0.32101	0.251;0.088;0.088;0.356	B;B;B;B	0.32289	0.046;0.143;0.143;0.128	T	0.11867	-1.0570	10	0.48119	T	0.1	0.1181	5.3503	0.16032	0.0:1.0:0.0:0.0	.	155;155;155;155	Q03405-3;Q03405;Q9UPI5;Q03405-2	.;UPAR_HUMAN;.;.	S	155	ENSP00000342049:G155S;ENSP00000339328:G155S;ENSP00000221264:G155S	ENSP00000221264:G155S	G	-	1	0	PLAUR	48852480	0.054000	0.20591	0.152000	0.22495	0.019000	0.09904	0.915000	0.28638	0.308000	0.22923	0.313000	0.20887	GGT		0.577	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1		NM_002659	
PLXNA1	5361	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	126708047	126708047	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr3:126708047G>A	ENST00000393409.2	+	1	611	c.611G>A	c.(610-612)cGt>cAt	p.R204H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R181H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	204	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.R181H(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTCCAGCCGTCGGCTCATG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											72.0	62.0	65.0					3																	126708047		2203	4300	6503	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.611G>A	3.37:g.126708047G>A	ENSP00000377061:p.Arg204His			Missense_Mutation	SNP	ENST00000393409.2	37	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	g	18.95	3.731941	0.69189	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.07444	3.19;3.19	3.87	3.0	0.34707	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.070617	0.56097	D	0.000032	T	0.37265	0.0997	M	0.93283	3.4	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	T	0.53158	-0.8478	10	0.87932	D	0	.	13.5415	0.61676	0.0:0.1575:0.8425:0.0	.	204	Q9UIW2	PLXA1_HUMAN	H	204;181	ENSP00000377061:R204H;ENSP00000251772:R181H	ENSP00000251772:R181H	R	+	2	0	PLXNA1	128190737	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.718000	0.84743	0.863000	0.35553	-0.323000	0.08544	CGT		0.617	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1		NM_032242	
PPIL4	85313	broad.mit.edu;hgsc.bcm.edu	37	6	149855873	149855873	+	Missense_Mutation	SNP	C	C	T	rs534916962	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:149855873C>T	ENST00000253329.2	-	6	534	c.502G>A	c.(502-504)Gac>Aac	p.D168N		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	168					protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.D168N(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TCAGGAGGGTCATCAAATGGA	0.299													C|||	3	0.000599042	0.0	0.0043	5008	,	,		15784	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											110.0	113.0	112.0					6																	149855873		2203	4297	6500	SO:0001583	missense	85313				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.502G>A	6.37:g.149855873C>T	ENSP00000253329:p.Asp168Asn		B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859662	0.91433	.	.	ENSG00000131013	ENST00000253329	T	0.46063	0.88	5.64	5.64	0.86602	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (1);Cyclophilin-like (1);	0.000000	0.85682	D	0.000000	T	0.63873	0.2548	M	0.86420	2.815	0.80722	D	1	B;D	0.76494	0.092;0.999	B;D	0.64595	0.082;0.927	T	0.66412	-0.5930	10	0.46703	T	0.11	.	19.6922	0.96007	0.0:1.0:0.0:0.0	.	168;168	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	N	168	ENSP00000253329:D168N	ENSP00000253329:D168N	D	-	1	0	PPIL4	149897566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.113000	0.77095	2.658000	0.90341	0.555000	0.69702	GAC		0.299	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			
PROC	5624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128185973	128185973	+	Missense_Mutation	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr2:128185973C>A	ENST00000234071.3	+	9	924	c.837C>A	c.(835-837)gaC>gaA	p.D279E	PROC_ENST00000422777.3_Missense_Mutation_p.D279E|PROC_ENST00000409048.1_Missense_Mutation_p.D313E|PROC_ENST00000453608.2_Missense_Mutation_p.D334E	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	279	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.D279E(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GGGAGCTGGACCTGGACATCA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											92.0	78.0	82.0					2																	128185973		2203	4300	6503	SO:0001583	missense	5624			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.837C>A	2.37:g.128185973C>A	ENSP00000234071:p.Asp279Glu		B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Missense_Mutation	SNP	ENST00000234071.3	37	CCDS2145.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.357|0.357	-0.941347|-0.941347	0.02322|0.02322	.|.	.|.	ENSG00000115718|ENSG00000115718	ENST00000234071;ENST00000537436;ENST00000453608;ENST00000409048;ENST00000422777|ENST00000402125	D;D;D;D|.	0.87966|.	-2.32;-2.32;-2.32;-2.32|.	5.26|5.26	-2.07|-2.07	0.07276|0.07276	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);|.	0.000000|.	0.46442|.	D|.	0.000289|.	T|T	0.18425|0.18425	0.0442|0.0442	N|N	0.20445|0.20445	0.575|0.575	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.23735|.	0.037;0.09;0.0;0.006|.	B;B;B;B|.	0.17979|.	0.015;0.02;0.004;0.005|.	T|T	0.26292|0.26292	-1.0107|-1.0107	10|5	0.07990|.	T|.	0.79|.	.|.	2.9299|2.9299	0.05796|0.05796	0.1108:0.3766:0.1092:0.4033|0.1108:0.3766:0.1092:0.4033	.|.	334;335;313;279|.	B4DPQ7;B4DPQ3;E7END6;P04070|.	.;.;.;PROC_HUMAN|.	E|N	279;238;334;313;279|54	ENSP00000234071:D279E;ENSP00000404030:D334E;ENSP00000386679:D313E;ENSP00000409543:D279E|.	ENSP00000234071:D279E|.	D|T	+|+	3|2	2|0	PROC|PROC	127902443|127902443	0.000000|0.000000	0.05858|0.05858	0.131000|0.131000	0.22000|0.22000	0.338000|0.338000	0.28826|0.28826	-0.512000|-0.512000	0.06313|0.06313	-0.260000|-0.260000	0.09418|0.09418	-0.291000|-0.291000	0.09656|0.09656	GAC|ACC		0.637	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254385.2		NM_000312	
PRSS38	339501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	228004909	228004909	+	Splice_Site	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:228004909G>T	ENST00000366757.3	+	3	335		c.e3-1			NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.?(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CACCCCCACAGGGACAAGAAT	0.582																																																	1	Unknown(1)	kidney(1)											101.0	89.0	93.0					1																	228004909		2203	4300	6503	SO:0001630	splice_region_variant	339501				CCDS1563.1	1q42.13	2010-05-07			ENSG00000185888	ENSG00000185888		"""Serine peptidases / Serine peptidases"""	29625	protein-coding gene	gene with protein product	"""marapsin 2"""					12838346	Standard	NM_183062		Approved	MPN2	uc001hrh.3	A1L453	OTTHUMG00000037701	ENST00000366757.3:c.312-1G>T	1.37:g.228004909G>T			Q7RTY6	Splice_Site	SNP	ENST00000366757.3	37	CCDS1563.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.833627	0.32421	.	.	ENSG00000185888	ENST00000366757	.	.	.	4.23	4.23	0.50019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.4203	0.55516	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS38	226071532	0.876000	0.30132	0.811000	0.32455	0.024000	0.10985	3.033000	0.49743	2.641000	0.89580	0.655000	0.94253	.		0.582	PRSS38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091981.1		NM_183062	Intron
PTPRT	11122	hgsc.bcm.edu;ucsc.edu	37	20	40727124	40727137	+	Frame_Shift_Del	DEL	CCAGAAGTCTGCCA	CCAGAAGTCTGCCA	-	rs370717549	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	CCAGAAGTCTGCCA	CCAGAAGTCTGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr20:40727124_40727137delCCAGAAGTCTGCCA	ENST00000373187.1	-	27	3769_3782	c.3770_3783delTGGCAGACTTCTGG	c.(3769-3783)gtggcagacttctggfs	p.VADFW1257fs	PTPRT_ENST00000373198.4_Frame_Shift_Del_p.VADFW1276fs|PTPRT_ENST00000373193.3_Frame_Shift_Del_p.VADFW1260fs|PTPRT_ENST00000373201.1_Frame_Shift_Del_p.VADFW1247fs|PTPRT_ENST00000356100.2_Frame_Shift_Del_p.VADFW1266fs|PTPRT_ENST00000373184.1_Frame_Shift_Del_p.VADFW1267fs|PTPRT_ENST00000373190.1_Frame_Shift_Del_p.VADFW1256fs			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1257	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACACCAGCCTCCAGAAGTCTGCCACGGTGTTGGG	0.561																																																	0																																										SO:0001589	frameshift_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3770_3783delTGGCAGACTTCTGG	20.37:g.40727124_40727137delCCAGAAGTCTGCCA	ENSP00000362283:p.Val1257fs		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Frame_Shift_Del	DEL	ENST00000373187.1	37	CCDS42874.1																																																																																				0.561	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			
QSER1	79832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32953488	32953488	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr11:32953488G>C	ENST00000399302.2	+	4	632	c.297G>C	c.(295-297)ttG>ttC	p.L99F	QSER1_ENST00000527788.1_Missense_Mutation_p.L99F|QSER1_ENST00000527250.1_3'UTR	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	99								p.L99F(1)		breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ATGACCCTTTGCTACAAATCA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											136.0	131.0	132.0					11																	32953488		1890	4123	6013	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.297G>C	11.37:g.32953488G>C	ENSP00000382241:p.Leu99Phe		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849438	0.51270	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.54071	0.59;0.59	5.6	4.68	0.58851	.	0.123875	0.35124	N	0.003438	T	0.66886	0.2835	M	0.70275	2.135	0.32294	N	0.565873	D;D	0.64830	0.994;0.976	P;P	0.61940	0.896;0.79	T	0.74284	-0.3715	10	0.62326	D	0.03	.	12.0927	0.53736	0.1377:0.0:0.8623:0.0	.	99;99	Q2KHR3-2;Q2KHR3	.;QSER1_HUMAN	F	99	ENSP00000382241:L99F;ENSP00000432766:L99F	ENSP00000078652:L99F	L	+	3	2	QSER1	32910064	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.151000	0.31651	2.650000	0.89964	0.655000	0.94253	TTG		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1		NM_024774	
SLC35A1	10559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	88218885	88218885	+	Missense_Mutation	SNP	T	T	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:88218885T>C	ENST00000369552.4	+	7	905	c.878T>C	c.(877-879)tTa>tCa	p.L293S	C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_3'UTR|SLC35A1_ENST00000369556.3_Missense_Mutation_p.L234S|SLC35A1_ENST00000544441.1_Missense_Mutation_p.L159S	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	293					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|CMP-N-acetylneuraminate transport (GO:0015782)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	CMP-N-acetylneuraminate transmembrane transporter activity (GO:0005456)|sugar:proton symporter activity (GO:0005351)	p.L293S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGTTTGGATTACAGATAAGT	0.393																																					NSCLC(183;214 2117 17033 22638 44782)|Ovarian(87;1008 1343 9644 42916 50932)												1	Substitution - Missense(1)	kidney(1)											172.0	159.0	164.0					6																	88218885		2203	4300	6503	SO:0001583	missense	10559			D87969	CCDS5010.1, CCDS55043.1	6q15	2013-05-22			ENSG00000164414	ENSG00000164414		"""Solute carriers"""	11021	protein-coding gene	gene with protein product		605634	"""solute carrier family 35 (UDP-galactose transporter), member 1"""			9010752, 9644260	Standard	NM_006416		Approved	CMPST, hCST	uc011dzj.2	P78382	OTTHUMG00000015177	ENST00000369552.4:c.878T>C	6.37:g.88218885T>C	ENSP00000358565:p.Leu293Ser		Q5W1L8	Missense_Mutation	SNP	ENST00000369552.4	37	CCDS5010.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480725	0.63849	.	.	ENSG00000164414	ENST00000369556;ENST00000544441;ENST00000369552	T;T;T	0.52983	0.64;0.64;0.64	5.36	4.19	0.49359	.	0.000000	0.64402	U	0.000011	T	0.43433	0.1247	L	0.48174	1.505	0.54753	D	0.999986	D;D;P	0.59357	0.966;0.985;0.507	P;P;B	0.58013	0.831;0.831;0.18	T	0.44605	-0.9317	10	0.56958	D	0.05	-44.5747	11.4617	0.50215	0.0:0.0712:0.0:0.9288	.	293;234;159	P78382;Q5W1L8;B4DEM1	S35A1_HUMAN;.;.	S	234;159;293	ENSP00000358569:L234S;ENSP00000438603:L159S;ENSP00000358565:L293S	ENSP00000358565:L293S	L	+	2	0	SLC35A1	88275604	1.000000	0.71417	0.998000	0.56505	0.782000	0.44232	7.655000	0.83696	0.968000	0.38212	0.377000	0.23210	TTA		0.393	SLC35A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041446.1			
SLIT3	6586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	168093623	168093623	+	Missense_Mutation	SNP	C	C	G			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr5:168093623C>G	ENST00000519560.1	-	36	4827	c.4408G>C	c.(4408-4410)Gcc>Ccc	p.A1470P	SLIT3_ENST00000332966.8_Missense_Mutation_p.A1477P|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1470	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				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.A1470P(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)			ACCTTGGAGGCTGTGGCACAT	0.602																																					Ovarian(29;311 847 10864 17279 24903)												1	Substitution - Missense(1)	kidney(1)											83.0	81.0	82.0					5																	168093623		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.4408G>C	5.37:g.168093623C>G	ENSP00000430333:p.Ala1470Pro		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	C	14.62	2.589096	0.46110	.	.	ENSG00000184347	ENST00000519560;ENST00000332966	T;T	0.76448	-1.02;-1.02	5.09	3.28	0.37604	Cystine knot, C-terminal (2);	0.284114	0.40064	N	0.001195	T	0.66336	0.2779	L	0.36672	1.1	0.80722	D	1	P	0.37370	0.592	B	0.39562	0.303	T	0.62110	-0.6923	10	0.36615	T	0.2	.	6.6426	0.22917	0.0:0.6967:0.1514:0.1519	.	1470	O75094	SLIT3_HUMAN	P	1470;1477	ENSP00000430333:A1470P;ENSP00000332164:A1477P	ENSP00000332164:A1477P	A	-	1	0	SLIT3	168026201	0.153000	0.22777	0.985000	0.45067	0.291000	0.27294	0.608000	0.24223	1.130000	0.42092	0.561000	0.74099	GCC		0.602	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4		NM_003062	
SOD2	6648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160113748	160113748	+	Silent	SNP	G	G	T			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr6:160113748G>T	ENST00000546087.1	-	4	1860	c.33C>A	c.(31-33)gcC>gcA	p.A11A	SOD2_ENST00000367054.2_Silent_p.A57A|SOD2_ENST00000538183.2_Silent_p.A57A|SOD2_ENST00000367055.4_Silent_p.A57A|SOD2_ENST00000337404.4_Silent_p.A57A|SOD2_ENST00000444946.2_Silent_p.A57A|SOD2_ENST00000452684.2_Silent_p.A57A			P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	57					age-dependent response to reactive oxygen species (GO:0001315)|cellular response to ethanol (GO:0071361)|detection of oxygen (GO:0003032)|erythrophore differentiation (GO:0048773)|glutathione metabolic process (GO:0006749)|heart development (GO:0007507)|hemopoiesis (GO:0030097)|hydrogen peroxide biosynthetic process (GO:0050665)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|iron ion homeostasis (GO:0055072)|liver development (GO:0001889)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|neuron development (GO:0048666)|oxygen homeostasis (GO:0032364)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to gamma radiation (GO:0010332)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to lipopolysaccharide (GO:0032496)|response to manganese ion (GO:0010042)|response to selenium ion (GO:0010269)|response to silicon dioxide (GO:0034021)|response to superoxide (GO:0000303)|response to zinc ion (GO:0010043)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure (GO:0003069)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|manganese ion binding (GO:0030145)|oxygen binding (GO:0019825)|superoxide dismutase activity (GO:0004784)	p.A57A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		TGTTCACGTAGGCCGCGTGGT	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											141.0	123.0	129.0					6																	160113748		2203	4300	6503	SO:0001819	synonymous_variant	6648			M36693	CCDS5265.1, CCDS34564.1	6q25	2008-02-05			ENSG00000112096	ENSG00000112096	1.15.1.1		11180	protein-coding gene	gene with protein product		147460					Standard	NM_000636		Approved		uc003qsg.3	P04179	OTTHUMG00000015940	ENST00000546087.1:c.33C>A	6.37:g.160113748G>T			B2R7R1|B3KUK2|B4DL20|B4E3K9|E1P5A9|P78434|Q16792|Q5TCM1|Q96EE6|Q9P2Z3	Silent	SNP	ENST00000546087.1	37																																																																																					0.642	SOD2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399943.1		NM_000636	
SPEG	10290	broad.mit.edu	37	2	220338227	220338227	+	Splice_Site	SNP	C	C	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr2:220338227C>A	ENST00000312358.7	+	17	4281	c.4149C>A	c.(4147-4149)ggC>ggA	p.G1383G	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1383					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1383G(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTCCCAGGCCCAACCCTGG	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	65.0	63.0					2																	220338227		2041	4177	6218	SO:0001630	splice_region_variant	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.4148-1C>A	2.37:g.220338227C>A			A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	CCDS42824.1																																																																																				0.592	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2		NM_005876	Silent
ST7L	54879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	113124710	113124711	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr1:113124710_113124711GA>AT	ENST00000358039.4	-	9	1276_1277	c.972_973TC>AT	c.(970-975)ccTCct>ccATct	p.P325S	ST7L_ENST00000343210.7_Missense_Mutation_p.P325S|ST7L_ENST00000544629.1_Missense_Mutation_p.P260S|ST7L_ENST00000543570.1_Missense_Mutation_p.P308S|ST7L_ENST00000360743.4_Missense_Mutation_p.P325S|ST7L_ENST00000490067.1_Missense_Mutation_p.P308S|ST7L_ENST00000369668.2_Missense_Mutation_p.P325S|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000538187.1_Missense_Mutation_p.P269S|ST7L_ENST00000369666.1_Missense_Mutation_p.P308S|ST7L_ENST00000369669.1_Missense_Mutation_p.P142S	NM_017744.4|NM_138727.3	NP_060214.2|NP_620055.1	Q8TDW4	ST7L_HUMAN	suppression of tumorigenicity 7 like	325					negative regulation of cell growth (GO:0030308)	integral component of membrane (GO:0016021)		p.P325S(2)|p.P324P(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGTAAGAGGAGGAAATTCTT	0.337																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	54879			AB081317	CCDS848.1, CCDS849.1, CCDS850.1, CCDS852.1	1p13.1	2008-06-06			ENSG00000007341	ENSG00000007341			18441	protein-coding gene	gene with protein product						12012006	Standard	NM_138729		Approved	FLJ20284, STLR, ST7R, FAM4B	uc001ecd.3	Q8TDW4	OTTHUMG00000011753	ENST00000358039.4:c.972_973delinsAT	1.37:g.113124710_113124711delinsAT	ENSP00000350734:p.Pro325Ser		A8K4S7|Q49AH6|Q5TEI4|Q5U5K6|Q6N067|Q7Z2Z0|Q7Z3C2|Q8N7P8|Q8TDW1|Q8TDW2|Q8TDW3|Q9NXF3	Missense_Mutation|Silent	SNP	ENST00000358039.4	37	CCDS848.1																																																																																				0.337	ST7L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032504.3			
STK31	56164	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23826468	23826468	+	Missense_Mutation	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr7:23826468G>A	ENST00000355870.3	+	20	2531	c.2412G>A	c.(2410-2412)atG>atA	p.M804I	STK31_ENST00000354639.3_Missense_Mutation_p.M781I|STK31_ENST00000428484.1_Missense_Mutation_p.M781I|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.M804I	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	804	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)	p.M804I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTGATCCTATGGCTTATCTGA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											190.0	171.0	177.0					7																	23826468		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2412G>A	7.37:g.23826468G>A	ENSP00000348132:p.Met804Ile		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159402	0.21454	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.17	4.26	0.50523	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.392618	0.25698	N	0.028890	T	0.43411	0.1246	N	0.19112	0.55	0.25541	N	0.987174	B;B	0.15141	0.012;0.012	B;B	0.13407	0.009;0.009	T	0.24012	-1.0172	10	0.26408	T	0.33	-1.889	8.9138	0.35570	0.0:0.1401:0.5529:0.3069	.	804;804	B4DZ06;Q9BXU1	.;STK31_HUMAN	I	804;804;781;781	ENSP00000348132:M804I;ENSP00000411852:M804I;ENSP00000346660:M781I;ENSP00000406146:M781I	ENSP00000346660:M781I	M	+	3	0	STK31	23792993	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	2.067000	0.41461	1.117000	0.41842	0.484000	0.47621	ATG		0.348	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2		NM_031414	
TEKT5	146279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	10788652	10788652	+	Missense_Mutation	SNP	C	C	A	rs61731533	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr16:10788652C>A	ENST00000283025.2	-	1	150	c.79G>T	c.(79-81)Gta>Tta	p.V27L	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	27						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.V27L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGCGCCTGTACAGCTGGCAGT	0.552																																																	1	Substitution - Missense(1)	kidney(1)											64.0	57.0	60.0					16																	10788652		2197	4300	6497	SO:0001583	missense	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.79G>T	16.37:g.10788652C>A	ENSP00000283025:p.Val27Leu		A1L3Z3	Missense_Mutation	SNP	ENST00000283025.2	37	CCDS10542.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.386290	0.25031	.	.	ENSG00000153060	ENST00000283025	T	0.02944	4.1	4.46	0.0371	0.14195	.	1.902590	0.02814	N	0.124729	T	0.03477	0.0100	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.14023	0.01	T	0.45483	-0.9258	10	0.30854	T	0.27	-3.4485	8.1108	0.30914	0.0:0.5188:0.0:0.4812	.	27	Q96M29	TEKT5_HUMAN	L	27	ENSP00000283025:V27L	ENSP00000283025:V27L	V	-	1	0	TEKT5	10696153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.259000	0.18405	0.162000	0.19483	-0.291000	0.09656	GTA		0.552	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1		NM_144674	
HERC2P9	440248	broad.mit.edu	37	15	28929547	28929547	+	RNA	SNP	T	T	C	rs140867295	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr15:28929547T>C	ENST00000528584.1	+	0	2084					NR_036443.1				hect domain and RLD 2 pseudogene 9																		GGAGAAGCATTAGGGTGTCCG	0.562													T|||	1061	0.211861	0.2723	0.1758	5008	,	,		14376	0.4792		0.0229	False		,,,				2504	0.0746																0																																												0			BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28929547T>C				RNA	SNP	ENST00000528584.1	37																																																																																					0.562	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1		NR_036443	
Unknown	0	broad.mit.edu	37	15	82620400	82620400	+	IGR	SNP	T	T	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr15:82620400T>C								RP13-98N21.3 (22248 upstream) : GOLGA6L10 (14729 downstream)																							GACCCAAGGGTCAGCCTGAGT	0.672																																																	0																																										SO:0001628	intergenic_variant	0																															15.37:g.82620400T>C				RNA	SNP		37																																																																																				0	0.672									
ZC3H3	23144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144550433	144550433	+	Silent	SNP	G	G	C			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr8:144550433G>C	ENST00000262577.5	-	8	2152	c.2121C>G	c.(2119-2121)acC>acG	p.T707T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	707					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T707T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTTTCTTGCAGGTGCCCCGGA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	56.0	58.0					8																	144550433		2202	4300	6502	SO:0001819	synonymous_variant	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2121C>G	8.37:g.144550433G>C			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	ENST00000262577.5	37	CCDS6402.1																																																																																				0.652	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2		NM_015117	
ZMIZ2	83637	broad.mit.edu;hgsc.bcm.edu	37	7	44796728	44796728	+	Silent	SNP	G	G	A			TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr7:44796728G>A	ENST00000309315.4	+	4	471	c.348G>A	c.(346-348)ggG>ggA	p.G116G	ZMIZ2_ENST00000265346.7_Silent_p.G116G|ZMIZ2_ENST00000413916.1_Silent_p.G84G|ZMIZ2_ENST00000441627.1_Silent_p.G116G|ZMIZ2_ENST00000433667.1_Silent_p.G84G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	116	Gly-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.G116G(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTACCCTGGGGCCCCCGGCT	0.642																																					NSCLC(20;604 852 1948 16908 50522)												1	Substitution - coding silent(1)	kidney(1)											13.0	16.0	15.0					7																	44796728		1939	4122	6061	SO:0001819	synonymous_variant	83637			AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.348G>A	7.37:g.44796728G>A			A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	37	CCDS43576.1																																																																																				0.642	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1		NM_031449	
ZNF626	199777	hgsc.bcm.edu	37	19	20807177	20807178	+	Frame_Shift_Ins	INS	-	-	A	rs71174721|rs35575803	byFrequency	TCGA-CJ-6028-01A-11D-1669-08	TCGA-CJ-6028-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d165717a-cc3d-4533-8194-0029c186f1bb	ade34839-33d1-4347-ad43-a32da7584331	g.chr19:20807177_20807178insA	ENST00000601440.1	-	4	1651_1652	c.1505_1506insT	c.(1504-1506)atcfs	p.I502fs	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	502					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TCTCCAGTATGATTCTCTCATG	0.391													aa|A|AA|deletion	3654	0.729633	0.4985	0.8386	5008	,	,		12106	0.7956		0.8708	False		,,,				2504	0.7515																0																																										SO:0001589	frameshift_variant	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1506dupT	19.37:g.20807178_20807178dupA	ENSP00000469958:p.Ile502fs		Q8N8T4|Q96QM1	Frame_Shift_Ins	INS	ENST00000601440.1	37	CCDS42535.1																																																																																				0.391	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2		NM_145297	
