#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
ABCC5	10057	hgsc.bcm.edu	37	3	183665257	183665257	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:183665257delA	ENST00000334444.6	-	23	3509	c.3269delT	c.(3268-3270)ttgfs	p.L1090fs	ABCC5_ENST00000265586.6_Frame_Shift_Del_p.L1047fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1090	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	ACACGTAAACAAAAAAAAAGG	0.532																																																	0													49.0	58.0	55.0					3																	183665257		1969	4159	6128	SO:0001589	frameshift_variant	10057			AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3269delT	3.37:g.183665257delA	ENSP00000333926:p.Leu1090fs		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Frame_Shift_Del	DEL	ENST00000334444.6	37	CCDS43176.1																																																																																				0.532	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1		NM_005688	
ABCG4	64137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119031335	119031335	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:119031335C>A	ENST00000449422.2	+	14	1872	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M	ABCG4_ENST00000307417.3_Missense_Mutation_p.L562M|ABCG4_ENST00000531739.1_Missense_Mutation_p.L562M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	562	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.L562M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCCACTTACCTGCAATGGAG	0.582																																																	1	Substitution - Missense(1)	kidney(1)											221.0	209.0	213.0					11																	119031335		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1684C>A	11.37:g.119031335C>A	ENSP00000406874:p.Leu562Met		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742429	0.69418	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.75050	-0.9;-0.9;-0.9	5.49	2.57	0.30868	ABC-2 type transporter (1);	0.071779	0.64402	D	0.000017	T	0.73313	0.3571	L	0.47190	1.495	0.46798	D	0.9992	P	0.43392	0.805	P	0.52031	0.688	T	0.66288	-0.5961	10	0.29301	T	0.29	-4.2931	9.2749	0.37694	0.0:0.6981:0.0:0.3019	.	562	Q9H172	ABCG4_HUMAN	M	562	ENSP00000304111:L562M;ENSP00000406874:L562M;ENSP00000434318:L562M	ENSP00000304111:L562M	L	+	1	2	ABCG4	118536545	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.701000	0.47094	0.287000	0.22375	0.558000	0.71614	CTG		0.582	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1		NM_022169	
ABHD15	116236	broad.mit.edu	37	17	27893483	27893483	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:27893483C>G	ENST00000307201.4	-	1	672	c.502G>C	c.(502-504)Ggt>Cgt	p.G168R	TP53I13_ENST00000301057.7_5'Flank|TP53I13_ENST00000584522.1_3'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	168						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.G168R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GTGAGGCGACCCCACGCATTG	0.682																																																	1	Substitution - Missense(1)	kidney(1)											20.0	21.0	21.0					17																	27893483		2198	4296	6494	SO:0001583	missense	116236			AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.502G>C	17.37:g.27893483C>G	ENSP00000302657:p.Gly168Arg		Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	32	5.117848	0.94385	.	.	ENSG00000168792	ENST00000307201	T	0.71934	-0.61	4.62	4.62	0.57501	.	0.061161	0.64402	D	0.000004	D	0.83220	0.5207	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	D	0.85580	0.1239	10	0.72032	D	0.01	-18.367	16.2047	0.82120	0.0:1.0:0.0:0.0	.	168	Q6UXT9	ABH15_HUMAN	R	168	ENSP00000302657:G168R	ENSP00000302657:G168R	G	-	1	0	ABHD15	24917609	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.612000	0.74187	2.391000	0.81399	0.655000	0.94253	GGT		0.682	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2		NM_198147	
ADAMTS1	9510	hgsc.bcm.edu;ucsc.edu	37	21	28213405	28213407	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr21:28213405_28213407delCAT	ENST00000284984.3	-	4	1742_1744	c.1288_1290delATG	c.(1288-1290)atgdel	p.M430del		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	430	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GCATTGACGCCATCATGTGGGAA	0.488																																																	0																																										SO:0001651	inframe_deletion	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1288_1290delATG	21.37:g.28213408_28213410delCAT	ENSP00000284984:p.Met430del		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	In_Frame_Del	DEL	ENST00000284984.3	37	CCDS33524.1																																																																																				0.488	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2			
AFAP1L2	84632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	116082996	116082996	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr10:116082996T>G	ENST00000304129.4	-	5	369	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	AFAP1L2_ENST00000369271.3_Missense_Mutation_p.I114L|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.I167L			Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	114					inflammatory response (GO:0006954)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of interleukin-6 production (GO:0032675)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)	protein tyrosine kinase activator activity (GO:0030296)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)	p.I132L(1)|p.I114L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GTCTTTGGGATGGCAAGCTGT	0.502																																																	2	Substitution - Missense(2)	kidney(2)											111.0	91.0	97.0					10																	116082996		2203	4300	6503	SO:0001583	missense	84632			BC024314	CCDS31286.1, CCDS31287.1	10q26.11	2013-01-10	2007-02-07	2007-02-07	ENSG00000169129	ENSG00000169129		"""Pleckstrin homology (PH) domain containing"""	25901	protein-coding gene	gene with protein product		612420	"""KIAA1914"""	KIAA1914		11572484, 17412687	Standard	XM_005270239		Approved	FLJ14564, Em:AC005383.4, XB130	uc001lbn.3	Q8N4X5	OTTHUMG00000019086	ENST00000304129.4:c.340A>C	10.37:g.116082996T>G	ENSP00000303042:p.Ile114Leu		A8K6P7|B3KVQ8|Q2UZW3|Q8TB54|Q96PX4|Q96SY5	Missense_Mutation	SNP	ENST00000304129.4	37	CCDS31286.1	.	.	.	.	.	.	.	.	.	.	T	2.338	-0.351880	0.05173	.	.	ENSG00000169129	ENST00000369271;ENST00000304129;ENST00000392974;ENST00000541919;ENST00000545353;ENST00000419268	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.85	-7.11	0.01542	.	0.848839	0.10530	N	0.663895	T	0.16557	0.0398	N	0.02368	-0.58	0.09310	N	1	B;B;B;B;B	0.26876	0.162;0.101;0.002;0.001;0.0	B;B;B;B;B	0.23419	0.046;0.02;0.007;0.002;0.001	T	0.38090	-0.9677	10	0.08381	T	0.77	-5.8642	13.2831	0.60226	0.0:0.673:0.0902:0.2368	.	167;168;114;114;114	F5GZE1;B7Z2Q0;Q8N4X5-4;Q8N4X5-2;Q8N4X5	.;.;.;.;AF1L2_HUMAN	L	114;114;113;132;167;132	ENSP00000358276:I114L;ENSP00000303042:I114L;ENSP00000444511:I167L;ENSP00000396781:I132L	ENSP00000303042:I114L	I	-	1	0	AFAP1L2	116072986	0.000000	0.05858	0.009000	0.14445	0.499000	0.33736	-0.460000	0.06720	-1.212000	0.02620	0.528000	0.53228	ATC		0.502	AFAP1L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050462.1		NM_032550	
AFF4	27125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	132270528	132270528	+	Missense_Mutation	SNP	T	T	C	rs372069594		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:132270528T>C	ENST00000265343.5	-	3	608	c.229A>G	c.(229-231)Att>Gtt	p.I77V	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.I77V	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	77					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I77V(1)	SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCTTGGGAATTGCAACAAGC	0.398																																					Ovarian(126;889 1733 2942 10745 11605)												1	Substitution - Missense(1)	kidney(1)						T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	125.0	131.0	129.0		229	5.9	1.0	5		129	0,8600		0,0,4300	no	missense	AFF4	NM_014423.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	77/1164	132270528	1,13005	2203	4300	6503	SO:0001583	missense	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.229A>G	5.37:g.132270528T>C	ENSP00000265343:p.Ile77Val		B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	T	16.01	3.000189	0.54147	2.27E-4	0.0	ENSG00000072364	ENST00000265343;ENST00000378595;ENST00000421773	T;T;T	0.63255	-0.03;-0.03;-0.03	5.86	5.86	0.93980	.	0.049747	0.85682	D	0.000000	T	0.51007	0.1649	N	0.25380	0.74	0.48975	D	0.999736	B;B;B	0.24823	0.037;0.112;0.018	B;B;B	0.27380	0.055;0.079;0.043	T	0.45352	-0.9267	10	0.20519	T	0.43	-11.3558	16.2479	0.82454	0.0:0.0:0.0:1.0	.	77;77;77	Q9UHB7-3;Q9UHB7-2;Q9UHB7	.;.;AFF4_HUMAN	V	77	ENSP00000265343:I77V;ENSP00000367858:I77V;ENSP00000395268:I77V	ENSP00000265343:I77V	I	-	1	0	AFF4	132298427	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.225000	0.58600	2.241000	0.73720	0.533000	0.62120	ATT		0.398	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1		NM_014423	
ALKBH8	91801	hgsc.bcm.edu;ucsc.edu	37	11	107375782	107375782	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:107375782delT	ENST00000428149.2	-	12	1748	c.1597delA	c.(1597-1599)agtfs	p.S533fs	ALKBH8_ENST00000389568.3_Frame_Shift_Del_p.S533fs|ALKBH8_ENST00000417449.2_Frame_Shift_Del_p.S536fs|ALKBH8_ENST00000429370.1_Intron	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	533	Methyltransferase domain.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GAGGTATCACTGTTCATCTCC	0.453																																																	0													182.0	155.0	163.0					11																	107375782		692	1591	2283	SO:0001589	frameshift_variant	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.1597delA	11.37:g.107375782delT	ENSP00000415885:p.Ser533fs		B1Q2M0|B4DEF6|Q8N989	Frame_Shift_Del	DEL	ENST00000428149.2	37	CCDS8337.2																																																																																				0.453	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2		NM_138775	
AOX1	316	hgsc.bcm.edu;ucsc.edu	37	2	201533350	201533350	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:201533350delT	ENST00000374700.2	+	33	3863	c.3622delT	c.(3622-3624)tttfs	p.F1208fs	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1208					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGAAGGTGCATTTATTCAAGG	0.398																																																	0													135.0	135.0	135.0					2																	201533350		2203	4300	6503	SO:0001589	frameshift_variant	316			AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3622delT	2.37:g.201533350delT	ENSP00000363832:p.Phe1208fs		O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Frame_Shift_Del	DEL	ENST00000374700.2	37	CCDS33360.1																																																																																				0.398	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1		NM_001159	
PHF7	51533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52442521	52442521	+	5'Flank	SNP	T	T	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:52442521T>C	ENST00000327906.3	+	0	0				BAP1_ENST00000460680.1_Missense_Mutation_p.D75G|BAP1_ENST00000296288.5_Missense_Mutation_p.D75G|PHF7_ENST00000347025.2_5'Flank	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7							Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.I72fs*7(1)|p.D75G(1)		breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		ATTCACAATATCATCATCAAT	0.478																																																	2	Substitution - Missense(1)|Deletion - Frameshift(1)	kidney(1)|pleura(1)											66.0	55.0	59.0					3																	52442521		2202	4299	6501	SO:0001631	upstream_gene_variant	8314			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495		3.37:g.52442521T>C	Exception_encountered		K4DI82	Missense_Mutation	SNP	ENST00000327906.3	37	CCDS2854.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.130185	0.77549	.	.	ENSG00000163930	ENST00000460680;ENST00000296288	T;T	0.54866	0.55;0.55	5.52	5.52	0.82312	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.224693	0.49305	D	0.000146	T	0.39627	0.1085	N	0.17345	0.48	0.80722	D	1	B	0.20368	0.044	B	0.15484	0.013	T	0.25293	-1.0136	10	0.59425	D	0.04	-4.0493	15.6492	0.77078	0.0:0.0:0.0:1.0	.	75	Q92560	BAP1_HUMAN	G	75	ENSP00000417132:D75G;ENSP00000296288:D75G	ENSP00000296288:D75G	D	-	2	0	BAP1	52417561	1.000000	0.71417	0.987000	0.45799	0.993000	0.82548	8.005000	0.88553	2.106000	0.64143	0.533000	0.62120	GAT		0.478	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351155.1		NM_016483	
TMEM243	79161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	86826037	86826037	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:86826037A>T	ENST00000433078.1	-	5	713	c.272T>A	c.(271-273)tTt>tAt	p.F91Y	TMEM243_ENST00000481425.1_5'UTR|TMEM243_ENST00000257637.3_Missense_Mutation_p.F91Y			Q9BU79	TM243_HUMAN	transmembrane protein 243, mitochondrial	91						integral component of membrane (GO:0016021)		p.F91Y(1)									TAGCTTTCTAAATTTCGGTTC	0.313																																																	1	Substitution - Missense(1)	kidney(1)											73.0	71.0	72.0					7																	86826037		2203	4300	6503	SO:0001583	missense	0				CCDS5602.1	7q21.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000135185	ENSG00000135185			21707	protein-coding gene	gene with protein product	"""MDR1 and mitochondrial taxol resistance associated gene"""		"""chromosome 7 open reading frame 23"""	C7orf23			Standard	NM_024315		Approved	MGC4175, MM-TRAG	uc003uio.3	Q9BU79	OTTHUMG00000130823	ENST00000433078.1:c.272T>A	7.37:g.86826037A>T	ENSP00000398083:p.Phe91Tyr		A4D1C6|B2R9I4|D6W5P1	Missense_Mutation	SNP	ENST00000433078.1	37	CCDS5602.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373396	0.82573	.	.	ENSG00000135185	ENST00000257637;ENST00000433078	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	M	0.74258	2.255	0.80722	D	1	D	0.62365	0.991	D	0.71414	0.973	T	0.80522	-0.1345	9	0.62326	D	0.03	.	15.7232	0.77732	1.0:0.0:0.0:0.0	.	91	Q9BU79	CG023_HUMAN	Y	91	.	ENSP00000257637:F91Y	F	-	2	0	C7orf23	86663973	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.962000	0.93254	2.304000	0.77564	0.528000	0.53228	TTT		0.313	TMEM243-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334412.1		NM_024315	
CAND1	55832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	67700071	67700071	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:67700071G>A	ENST00000545606.1	+	10	3060	c.2623G>A	c.(2623-2625)Gct>Act	p.A875T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	875					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)		p.A875T(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGTCAAATCAGCTGCATCCTA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											121.0	116.0	118.0					12																	67700071		2203	4300	6503	SO:0001583	missense	55832				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.2623G>A	12.37:g.67700071G>A	ENSP00000442318:p.Ala875Thr		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227864	0.79576	.	.	ENSG00000111530	ENST00000545606;ENST00000299218;ENST00000544619	T;T	0.21734	1.99;1.99	5.49	5.49	0.81192	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	H	0.94222	3.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.983	T	0.72940	-0.4139	9	.	.	.	-13.8979	19.377	0.94514	0.0:0.0:1.0:0.0	.	707;875	Q86VP6-2;Q86VP6	.;CAND1_HUMAN	T	875;875;415	ENSP00000442318:A875T;ENSP00000444089:A415T	.	A	+	1	0	CAND1	65986338	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.793000	0.99091	2.586000	0.87340	0.561000	0.74099	GCT		0.413	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1		NM_018448	
CARD11	84433	broad.mit.edu;ucsc.edu	37	7	2954892	2954892	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:2954892G>C	ENST00000396946.4	-	21	3221	c.2818C>G	c.(2818-2820)Ctc>Gtc	p.L940V		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	940					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.L933V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCAGTCAAGAGCTTGGTGGCG	0.622			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - Missense(1)	kidney(1)											110.0	101.0	104.0					7																	2954892		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2818C>G	7.37:g.2954892G>C	ENSP00000380150:p.Leu940Val		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	9.114	1.007210	0.19199	.	.	ENSG00000198286	ENST00000396946	T	0.31769	1.48	4.54	4.54	0.55810	.	0.411886	0.22950	N	0.053675	T	0.20129	0.0484	N	0.14661	0.345	0.26132	N	0.980405	B	0.16396	0.017	B	0.13407	0.009	T	0.13255	-1.0516	10	0.40728	T	0.16	-29.5257	14.4591	0.67438	0.0:0.0:1.0:0.0	.	940	Q9BXL7	CAR11_HUMAN	V	940	ENSP00000380150:L940V	ENSP00000380150:L940V	L	-	1	0	CARD11	2921418	0.860000	0.29831	0.996000	0.52242	0.946000	0.59487	1.969000	0.40510	2.067000	0.61834	0.407000	0.27541	CTC		0.622	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4		NM_032415	
CAPZA2	830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	116556165	116556165	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:116556165A>T	ENST00000361183.3	+	9	848	c.709A>T	c.(709-711)Aat>Tat	p.N237Y	CAPZA2_ENST00000458284.2_3'UTR	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	237					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)		p.N237Y(1)		endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			AGCTGCAGAAAATGAATACCA	0.254																																																	1	Substitution - Missense(1)	kidney(1)											21.0	23.0	22.0					7																	116556165		2185	4277	6462	SO:0001583	missense	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.709A>T	7.37:g.116556165A>T	ENSP00000354947:p.Asn237Tyr		B4DG50	Missense_Mutation	SNP	ENST00000361183.3	37	CCDS5768.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.624034	0.87560	.	.	ENSG00000198898	ENST00000361183	.	.	.	5.54	5.54	0.83059	.	0.047736	0.85682	D	0.000000	T	0.80586	0.4651	M	0.85710	2.77	0.80722	D	1	D	0.61697	0.99	D	0.66979	0.948	D	0.83844	0.0259	9	0.66056	D	0.02	-18.6724	15.6863	0.77411	1.0:0.0:0.0:0.0	.	237	P47755	CAZA2_HUMAN	Y	237	.	ENSP00000354947:N237Y	N	+	1	0	CAPZA2	116343401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.094000	0.94168	2.107000	0.64212	0.477000	0.44152	AAT		0.254	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059506.4		NM_006136	
CCDC108	255101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	219900064	219900064	+	Intron	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:219900064T>G	ENST00000341552.5	-	5	626				CCDC108_ENST00000410037.1_Intron|CCDC108_ENST00000295729.2_Missense_Mutation_p.Q162P|CCDC108_ENST00000324264.6_Missense_Mutation_p.Q162P|CCDC108_ENST00000453220.1_Intron|CCDC108_ENST00000441968.1_Intron|CCDC108_ENST00000409865.3_Intron	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108							integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.Q162P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTATTCATACTGCACGTATTT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											27.0	29.0	28.0					2																	219900064		2168	4221	6389	SO:0001627	intron_variant	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.542+137A>C	2.37:g.219900064T>G			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927820	0.18056	.	.	ENSG00000181378	ENST00000295729;ENST00000324264	T;T	0.50813	0.73;0.73	2.65	1.48	0.22813	.	.	.	.	.	T	0.38453	0.1041	N	0.08118	0	0.09310	N	1	D	0.69078	0.997	P	0.62184	0.899	T	0.14062	-1.0486	9	0.37606	T	0.19	.	4.5034	0.11876	0.0:0.1571:0.0:0.8429	.	162	E9PCR1	.	P	162	ENSP00000295729:Q162P;ENSP00000313807:Q162P	ENSP00000295729:Q162P	Q	-	2	0	CCDC108	219608308	0.005000	0.15991	0.004000	0.12327	0.031000	0.12232	0.157000	0.16402	0.438000	0.26450	0.459000	0.35465	CAG		0.353	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4		NM_194302	
CCDC40	55036	broad.mit.edu	37	17	78039368	78039368	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:78039368C>G	ENST00000397545.4	+	10	1552	c.1525C>G	c.(1525-1527)Cgc>Ggc	p.R509G	CCDC40_ENST00000269318.5_Missense_Mutation_p.R509G|CCDC40_ENST00000374877.3_Missense_Mutation_p.R509G|CCDC40_ENST00000374876.4_Intron	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	509					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.R509G(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CATGAAGCACCGCGACGAGGC	0.692																																																	2	Substitution - Missense(2)	kidney(2)											45.0	53.0	50.0					17																	78039368		2128	4238	6366	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1525C>G	17.37:g.78039368C>G	ENSP00000380679:p.Arg509Gly		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	13.81	2.347768	0.41599	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000397545	T;D;T	0.84873	0.02;-1.91;0.18	5.14	5.14	0.70334	.	.	.	.	.	D	0.92625	0.7657	M	0.84846	2.72	0.44539	D	0.997492	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.93535	0.6873	9	0.72032	D	0.01	-17.7899	14.2557	0.66051	0.1497:0.8503:0.0:0.0	.	509;292	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	G	509	ENSP00000364011:R509G;ENSP00000269318:R509G;ENSP00000380679:R509G	ENSP00000269318:R509G	R	+	1	0	CCDC40	75653963	0.993000	0.37304	0.038000	0.18304	0.025000	0.11179	3.700000	0.54786	2.390000	0.81377	0.655000	0.94253	CGC		0.692	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082	
CCDC40	55036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78058619	78058619	+	Silent	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:78058619C>T	ENST00000397545.4	+	13	2094	c.2067C>T	c.(2065-2067)gaC>gaT	p.D689D	CCDC40_ENST00000374877.3_Silent_p.D689D	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	689					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.D689D(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCAGGCTGGACGCACACCAGA	0.532																																																	2	Substitution - coding silent(2)	kidney(2)											51.0	55.0	53.0					17																	78058619		2109	4226	6335	SO:0001819	synonymous_variant	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2067C>T	17.37:g.78058619C>T			A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Silent	SNP	ENST00000397545.4	37	CCDS42395.1																																																																																				0.532	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2		XM_371082	
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64211271	64211273	+	In_Frame_Del	DEL	GGG	GGG	-	rs575539013		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	GGG	GGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr18:64211271_64211273delGGG	ENST00000540086.1	-	7	1395_1397	c.1149_1151delCCC	c.(1147-1152)acccca>aca	p.P384del	CDH19_ENST00000262150.2_In_Frame_Del_p.P384del	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	486	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TGATCCCTGTGGGGTTTCTTCAA	0.419																																																	0																																										SO:0001651	inframe_deletion	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1149_1151delCCC	18.37:g.64211271_64211273delGGG	ENSP00000439593:p.Pro384del		O15098	In_Frame_Del	DEL	ENST00000540086.1	37	CCDS59325.1																																																																																				0.419	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1		NM_021153	
CHD3	1107	broad.mit.edu;ucsc.edu	37	17	7805978	7805978	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:7805978C>A	ENST00000330494.7	+	21	3453	c.3303C>A	c.(3301-3303)taC>taA	p.Y1101*	CHD3_ENST00000358181.4_Nonsense_Mutation_p.Y1101*|CHD3_ENST00000380358.4_Nonsense_Mutation_p.Y1160*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1101	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y1101*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATGAAGGCTACAAGTATGAGC	0.502																																																	1	Substitution - Nonsense(1)	kidney(1)											204.0	182.0	190.0					17																	7805978		2203	4300	6503	SO:0001587	stop_gained	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3303C>A	17.37:g.7805978C>A	ENSP00000332628:p.Tyr1101*		D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	ENST00000330494.7	37	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	C	36	5.945040	0.97134	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	4.53	2.49	0.30216	.	0.000000	0.36338	N	0.002655	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9813	8.6862	0.34238	0.0:0.7598:0.0:0.2402	.	.	.	.	X	1160;1101;1101	.	ENSP00000332628:Y1101X	Y	+	3	2	CHD3	7746703	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	2.125000	0.42016	0.508000	0.28173	-0.448000	0.05591	TAC		0.502	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1		NM_001005273	
CLEC9A	283420	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	10217396	10217396	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:10217396G>C	ENST00000355819.1	+	8	1150	c.537G>C	c.(535-537)caG>caC	p.Q179H		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.Q179H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GGTTGTCTCAGGATGGACACA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											136.0	128.0	131.0					12																	10217396		2203	4300	6503	SO:0001583	missense	283420				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.537G>C	12.37:g.10217396G>C	ENSP00000348074:p.Gln179His		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944899	0.18356	.	.	ENSG00000197992	ENST00000355819	T	0.17054	2.3	5.24	1.35	0.21983	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.219310	0.23912	N	0.043325	T	0.25680	0.0625	L	0.46157	1.445	0.09310	N	1	D	0.89917	1.0	D	0.73708	0.981	T	0.14755	-1.0461	10	0.16420	T	0.52	.	7.4481	0.27223	0.3698:0.0:0.6302:0.0	.	179	Q6UXN8	CLC9A_HUMAN	H	179	ENSP00000348074:Q179H	ENSP00000348074:Q179H	Q	+	3	2	CLEC9A	10108663	0.012000	0.17670	0.005000	0.12908	0.060000	0.15804	0.220000	0.17660	0.134000	0.18681	-0.136000	0.14681	CAG		0.438	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1		NM_207345	
CTNND2	1501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	11018139	11018139	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:11018139G>T	ENST00000304623.8	-	18	3220	c.3031C>A	c.(3031-3033)Cag>Aag	p.Q1011K	CTNND2_ENST00000503622.1_Missense_Mutation_p.Q674K|CTNND2_ENST00000359640.2_Missense_Mutation_p.Q953K|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.Q920K|CTNND2_ENST00000458100.2_Missense_Mutation_p.Q578K	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1011					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q1011K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TTGAGGACCTGAGATGCAGCC	0.493																																																	1	Substitution - Missense(1)	kidney(1)											143.0	127.0	133.0					5																	11018139		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3031C>A	5.37:g.11018139G>T	ENSP00000307134:p.Gln1011Lys		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254457	0.80135	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67088	0.2856	L	0.58810	1.83	0.80722	D	1	B;B;D	0.54964	0.02;0.018;0.969	B;B;D	0.64877	0.016;0.016;0.93	T	0.64441	-0.6407	10	0.62326	D	0.03	-19.5888	20.8794	0.99867	0.0:0.0:1.0:0.0	.	674;603;1011	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	K	1011;953;920;106;578;674	ENSP00000307134:Q1011K;ENSP00000352661:Q953K;ENSP00000426510:Q920K;ENSP00000391155:Q578K;ENSP00000426887:Q674K	ENSP00000307134:Q1011K	Q	-	1	0	CTNND2	11071139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAG		0.493	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1		NM_001332	
CYP21A2	1589	broad.mit.edu	37	6	32006526	32006526	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr6:32006526C>A	ENST00000418967.2	+	2	388	c.230C>A	c.(229-231)aCc>aAc	p.T77N	C4B-AS1_ENST00000415626.1_RNA|CYP21A2_ENST00000435122.2_Intron	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	76			I -> T (in AH3; simple virilizing form). {ECO:0000269|PubMed:20080860}.		glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.T77N(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCCAAGAGGACCATTGAGGAA	0.542																																					Melanoma(174;1669 1998 3915 34700 46447)												1	Substitution - Missense(1)	kidney(1)											7.0	9.0	9.0					6																	32006526		2090	4182	6272	SO:0001583	missense	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.230C>A	6.37:g.32006526C>A	ENSP00000408860:p.Thr77Asn		A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389372	0.42410	.	.	ENSG00000231852	ENST00000418967;ENST00000478281;ENST00000471671	T;T;T	0.68624	-0.34;-0.34;-0.34	4.5	3.62	0.41486	.	0.620952	0.14330	N	0.326422	T	0.47655	0.1457	L	0.58583	1.82	0.27274	N	0.958272	P	0.48294	0.908	P	0.47299	0.543	T	0.27088	-1.0084	10	0.19147	T	0.46	.	7.4614	0.27298	0.0:0.8829:0.0:0.1171	.	77	Q16874	.	N	77	ENSP00000408860:T77N;ENSP00000419572:T77N;ENSP00000418561:T77N	ENSP00000408860:T77N	T	+	2	0	CYP21A2	32114505	0.444000	0.25649	0.932000	0.37286	0.990000	0.78478	1.070000	0.30653	2.046000	0.60703	0.462000	0.41574	ACC		0.542	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2		NM_000500	
CYP4A11	1579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	47402390	47402390	+	Nonsense_Mutation	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:47402390A>C	ENST00000310638.4	-	4	487	c.456T>G	c.(454-456)taT>taG	p.Y152*	CYP4A11_ENST00000371905.1_Nonsense_Mutation_p.Y152*|CYP4A11_ENST00000371904.4_Nonsense_Mutation_p.Y152*|CYP4A11_ENST00000496519.1_5'Flank|CYP4A11_ENST00000457840.2_Nonsense_Mutation_p.Y48*|CYP4A11_ENST00000462347.1_Nonsense_Mutation_p.Y152*	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	152					arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)	p.Y152*(1)		endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TCAGGATGTCATAGTGGAAGG	0.542																																																	1	Substitution - Nonsense(1)	kidney(1)											116.0	90.0	99.0					1																	47402390		2203	4300	6503	SO:0001587	stop_gained	1579			L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.456T>G	1.37:g.47402390A>C	ENSP00000311095:p.Tyr152*		Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Nonsense_Mutation	SNP	ENST00000310638.4	37	CCDS543.1	.	.	.	.	.	.	.	.	.	.	N	23.8	4.458837	0.84317	.	.	ENSG00000187048	ENST00000310638;ENST00000371904;ENST00000371905;ENST00000457840	.	.	.	5.57	-2.52	0.06346	.	0.070255	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4491	0.61161	0.5505:0.0:0.4495:0.0	.	.	.	.	X	152;152;152;48	.	ENSP00000311095:Y152X	Y	-	3	2	CYP4A11	47174977	0.957000	0.32711	0.985000	0.45067	0.901000	0.52897	0.232000	0.17891	-0.185000	0.10550	-0.426000	0.05927	TAT		0.542	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1		NM_000778	
DDC	1644	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50611748	50611748	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:50611748C>G	ENST00000444124.2	-	2	236	c.36G>C	c.(34-36)gaG>gaC	p.E12D	DDC_ENST00000431062.1_Missense_Mutation_p.E12D|DDC_ENST00000426377.1_Missense_Mutation_p.E12D|DDC_ENST00000380984.4_Missense_Mutation_p.E12D|DDC_ENST00000357936.5_Missense_Mutation_p.E12D|AC018705.5_ENST00000454521.1_RNA	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	12					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.E12D(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AATCCACCATCTCCTTCCCTC	0.537																																																	2	Substitution - Missense(2)	kidney(2)											250.0	193.0	212.0					7																	50611748		2203	4300	6503	SO:0001583	missense	1644				CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.36G>C	7.37:g.50611748C>G	ENSP00000403644:p.Glu12Asp		C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170220	0.57584	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984;ENST00000420203;ENST00000432526	T;T;T;T;T;T	0.61274	1.08;1.08;1.08;1.08;1.08;0.12	5.92	2.74	0.32292	Pyridoxal phosphate-dependent transferase, major domain (1);	0.044468	0.85682	D	0.000000	T	0.54191	0.1843	M	0.79123	2.44	0.47441	D	0.999422	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.53514	-0.8428	10	0.44086	T	0.13	-0.7538	8.0552	0.30602	0.0:0.6664:0.1189:0.2147	.	12;12	Q53Y41;P20711	.;DDC_HUMAN	D	12	ENSP00000350616:E12D;ENSP00000399184:E12D;ENSP00000395069:E12D;ENSP00000403644:E12D;ENSP00000370371:E12D;ENSP00000408626:E12D	ENSP00000350616:E12D	E	-	3	2	DDC	50579242	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	1.660000	0.37397	0.859000	0.35456	0.655000	0.94253	GAG		0.537	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			
DPPA2	151871	hgsc.bcm.edu;ucsc.edu	37	3	109031461	109031461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:109031461delC	ENST00000478945.1	-	3	358	c.112delG	c.(112-114)gaafs	p.E38fs		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	38					lung-associated mesenchyme development (GO:0060484)|positive regulation of stem cell proliferation (GO:2000648)|regulation of histone methylation (GO:0031060)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|nucleic acid binding (GO:0003676)	p.E38K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCATTTGTTCCATATTTGCG	0.418																																																	1	Substitution - Missense(1)	lung(1)											189.0	172.0	178.0					3																	109031461		2203	4300	6503	SO:0001589	frameshift_variant	151871			AY283672	CCDS2956.1	3q13.13	2010-05-04			ENSG00000163530	ENSG00000163530			19197	protein-coding gene	gene with protein product	"""cancer/testis antigen 100"""	614445				15583978	Standard	NM_138815		Approved	PESCRG1, CT100	uc003dxo.3	Q7Z7J5	OTTHUMG00000159227	ENST00000478945.1:c.112delG	3.37:g.109031461delC	ENSP00000417710:p.Glu38fs		Q8WVF0	Frame_Shift_Del	DEL	ENST00000478945.1	37	CCDS2956.1																																																																																				0.418	DPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353938.1		NM_138815	
DYRK2	8445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	68052356	68052356	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:68052356A>C	ENST00000344096.3	+	3	2082	c.1669A>C	c.(1669-1671)Acc>Ccc	p.T557P	DYRK2_ENST00000393555.3_Missense_Mutation_p.T484P|RP11-335O4.3_ENST00000425371.2_RNA	NM_006482.2	NP_006473.2	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2	557					cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of NFAT protein import into nucleus (GO:0051534)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein phosphorylation (GO:0006468)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|ubiquitin binding (GO:0043130)	p.T557P(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)		AACTGAGAGCACCGGTGCTAT	0.532																																																	1	Substitution - Missense(1)	kidney(1)											172.0	171.0	172.0					12																	68052356		2203	4300	6503	SO:0001583	missense	8445			Y09216	CCDS8978.1, CCDS8979.1	12q15	2008-07-03				ENSG00000127334			3093	protein-coding gene	gene with protein product		603496				9748265	Standard	NM_003583		Approved		uc001str.4	Q92630		ENST00000344096.3:c.1669A>C	12.37:g.68052356A>C	ENSP00000342105:p.Thr557Pro		B2R9V9|Q9BRB5	Missense_Mutation	SNP	ENST00000344096.3	37	CCDS8978.1	.	.	.	.	.	.	.	.	.	.	A	8.991	0.977800	0.18812	.	.	ENSG00000127334	ENST00000344096;ENST00000393555	T;T	0.67523	-0.27;-0.26	5.58	3.19	0.36642	.	0.196800	0.53938	D	0.000056	T	0.54631	0.1870	L	0.46157	1.445	0.50467	D	0.999871	B	0.23806	0.091	B	0.25405	0.06	T	0.41431	-0.9509	9	.	.	.	.	7.2986	0.26408	0.792:0.0:0.0699:0.1381	.	557	Q92630	DYRK2_HUMAN	P	557;484	ENSP00000342105:T557P;ENSP00000377186:T484P	.	T	+	1	0	DYRK2	66338623	0.996000	0.38824	0.996000	0.52242	0.952000	0.60782	0.704000	0.25661	0.469000	0.27268	0.379000	0.24179	ACC		0.532	DYRK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402218.1			
ERCC1	2067	hgsc.bcm.edu	37	19	45916986	45916986	+	Silent	SNP	G	G	T	rs3212976	byFrequency	TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:45916986G>T	ENST00000300853.3	-	9	1383	c.792C>A	c.(790-792)atC>atA	p.I264I	ERCC1_ENST00000013807.5_Silent_p.I264I|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000589165.1_Silent_p.I264I|ERCC1_ENST00000340192.7_Silent_p.I240I|ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000423698.2_Silent_p.I192I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementation group 1	264	HhH2, dimerization with ERCC4.				cell proliferation (GO:0008283)|chromosome organization (GO:0051276)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|male gonad development (GO:0008584)|mitotic recombination (GO:0006312)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|oogenesis (GO:0048477)|post-embryonic hemopoiesis (GO:0035166)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|replicative cell aging (GO:0001302)|response to nutrient (GO:0007584)|response to oxidative stress (GO:0006979)|response to sucrose (GO:0009744)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)|syncytium formation (GO:0006949)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	cytoplasm (GO:0005737)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|single-stranded DNA binding (GO:0003697)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TTGATGCGGCGATGAGCTGTT	0.577								Nucleotide excision repair (NER)																																									0													71.0	73.0	72.0					19																	45916986		2203	4300	6503	SO:0001819	synonymous_variant	2067				CCDS12662.1, CCDS12663.1, CCDS54279.1	19q13.32	2014-03-07	2014-03-07			ENSG00000012061			3433	protein-coding gene	gene with protein product		126380	"""excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)"""			6462228	Standard	NM_001983		Approved	RAD10	uc002pbs.2	P07992		ENST00000300853.3:c.792C>A	19.37:g.45916986G>T			B2RC01|B3KRR0|Q7Z7F5|Q96S40	Silent	SNP	ENST00000300853.3	37	CCDS12662.1																																																																																				0.577	ERCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459542.1		NM_001983	
EVI5	7813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93089777	93089777	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:93089777C>T	ENST00000370331.1	-	14	1744	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	EVI5_ENST00000540033.1_Missense_Mutation_p.E579K|EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Missense_Mutation_p.E590K	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	579	Dimerization.|Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E579K(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCTCTTATTTCTGCTTGTGTT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											249.0	211.0	224.0					1																	93089777		2203	4300	6503	SO:0001583	missense	7813			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.1735G>A	1.37:g.93089777C>T	ENSP00000359356:p.Glu579Lys		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	33	5.194682	0.94960	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509;ENST00000338689	T;T;T	0.39592	1.07;1.07;1.07	5.54	5.54	0.83059	.	0.058280	0.64402	D	0.000002	T	0.43787	0.1263	M	0.78049	2.395	0.80722	D	1	B;B	0.29508	0.246;0.159	B;B	0.38378	0.272;0.14	T	0.42189	-0.9466	10	0.41790	T	0.15	-2.1966	19.4693	0.94956	0.0:1.0:0.0:0.0	.	590;579	F5H4R0;O60447	.;EVI5_HUMAN	K	579;579;590;278	ENSP00000359356:E579K;ENSP00000440826:E579K;ENSP00000445019:E590K	ENSP00000345500:E278K	E	-	1	0	EVI5	92862365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.197000	0.77814	2.594000	0.87642	0.655000	0.94253	GAA		0.378	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1		NM_005665	
EWSR1	2130	broad.mit.edu;ucsc.edu	37	22	29668371	29668371	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr22:29668371A>G	ENST00000397938.2	+	3	372	c.53A>G	c.(52-54)tAc>tGc	p.Y18C	EWSR1_ENST00000331029.7_Missense_Mutation_p.Y18C|EWSR1_ENST00000332050.6_Missense_Mutation_p.Y18C|EWSR1_ENST00000414183.2_Missense_Mutation_p.Y18C|EWSR1_ENST00000332035.6_Missense_Mutation_p.Y18C|EWSR1_ENST00000333395.6_Missense_Mutation_p.Y18C|EWSR1_ENST00000406548.1_Missense_Mutation_p.Y18C	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	18	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Y18C(2)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTTTGCAGCTACAGTGCTTAC	0.363			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																			Dom	yes		22	22q12	2130	Ewing sarcoma breakpoint region 1 (EWS)		"""L, M"""	2	Substitution - Missense(2)	kidney(2)											144.0	136.0	138.0					22																	29668371		2203	4300	6503	SO:0001583	missense	2130				CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.53A>G	22.37:g.29668371A>G	ENSP00000381031:p.Tyr18Cys		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	17.38	3.374653	0.61735	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000436425;ENST00000447973;ENST00000406548;ENST00000437155;ENST00000415761;ENST00000331029;ENST00000414183;ENST00000333395;ENST00000455726;ENST00000332035	D;D;D;D;D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.55	5.55	0.83447	.	0.000000	0.64402	U	0.000002	D	0.91030	0.7178	M	0.78344	2.41	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0	D;D;D;D;D	0.87578	0.99;0.99;0.998;0.99;0.996	D	0.92156	0.5732	10	0.87932	D	0	.	15.9917	0.80211	1.0:0.0:0.0:0.0	.	18;18;18;18;18	Q96FE8;B0QYK1;Q96MX4;Q01844;Q9BWA2	.;.;.;EWS_HUMAN;.	C	18	ENSP00000330896:Y18C;ENSP00000381031:Y18C;ENSP00000406824:Y18C;ENSP00000405947:Y18C;ENSP00000385726:Y18C;ENSP00000412670:Y18C;ENSP00000330516:Y18C;ENSP00000400142:Y18C;ENSP00000327456:Y18C;ENSP00000393637:Y18C;ENSP00000331699:Y18C	ENSP00000330516:Y18C	Y	+	2	0	EWSR1	27998371	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.306000	0.78905	2.222000	0.72286	0.533000	0.62120	TAC		0.363	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1		NM_005243	
FAM183A	440585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43616487	43616487	+	Silent	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:43616487A>C	ENST00000335282.4	+	2	189	c.189A>C	c.(187-189)gcA>gcC	p.A63A	FAM183A_ENST00000409337.1_3'UTR|FAM183A_ENST00000410048.1_Silent_p.A35A	NM_001101376.2	NP_001094846.2	A6NL82	F183A_HUMAN	family with sequence similarity 183, member A	63								p.A63A(2)		kidney(1)|large_intestine(1)|lung(2)|ovary(3)	7						AGGAACCTGCAGATGGTAAGT	0.468																																																	2	Substitution - coding silent(2)	kidney(2)											72.0	66.0	68.0					1																	43616487		1888	4122	6010	SO:0001819	synonymous_variant	440585			AI192630, AI375550, AL139138	CCDS44126.1	1p34.2	2008-08-11			ENSG00000186973	ENSG00000186973			34347	protein-coding gene	gene with protein product						11181995	Standard	NM_001101376		Approved	LOC440585, hCG23177	uc009vwo.3	A6NL82	OTTHUMG00000007286	ENST00000335282.4:c.189A>C	1.37:g.43616487A>C			B7ZBL8	Silent	SNP	ENST00000335282.4	37	CCDS44126.1	.	.	.	.	.	.	.	.	.	.	A	0.948	-0.707399	0.03230	.	.	ENSG00000186973	ENST00000409337	.	.	.	4.89	3.76	0.43208	.	.	.	.	.	T	0.27765	0.0683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.13124	-1.0521	5	0.02654	T	1	.	7.3235	0.26542	0.8982:0.0:0.1018:0.0	.	.	.	.	P	8	.	ENSP00000386318:Q8P	Q	+	2	0	FAM183A	43389074	1.000000	0.71417	0.999000	0.59377	0.875000	0.50365	1.910000	0.39927	0.824000	0.34613	0.533000	0.62120	CAG		0.468	FAM183A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019024.3		NM_001101376	
FAM71F1	84691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128358917	128358917	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr7:128358917T>C	ENST00000315184.5	+	3	520	c.467T>C	c.(466-468)gTa>gCa	p.V156A	FAM71F1_ENST00000485070.1_Intron|FAM71F1_ENST00000469348.1_Intron	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	156								p.V156A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGCTCCAGGTATGTGACCAC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											248.0	218.0	228.0					7																	128358917		2203	4300	6503	SO:0001583	missense	84691			AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.467T>C	7.37:g.128358917T>C	ENSP00000326652:p.Val156Ala		Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	T	16.55	3.153556	0.57259	.	.	ENSG00000135248	ENST00000315184;ENST00000466842	T;T	0.26067	1.76;1.76	4.58	4.58	0.56647	.	0.282437	0.25283	N	0.031782	T	0.36908	0.0984	L	0.54323	1.7	0.25325	N	0.989089	D;P;P	0.54601	0.967;0.731;0.773	P;B;B	0.55112	0.769;0.269;0.389	T	0.17715	-1.0360	10	0.87932	D	0	-11.2099	10.519	0.44907	0.0:0.0:0.0:1.0	.	156;156;156	F8WC62;Q96KD3-2;Q96KD3	.;.;F71F1_HUMAN	A	156;12	ENSP00000326652:V156A;ENSP00000417930:V12A	ENSP00000326652:V156A	V	+	2	0	FAM71F1	128146153	0.997000	0.39634	0.977000	0.42913	0.927000	0.56198	2.644000	0.46613	2.052000	0.61016	0.477000	0.44152	GTA		0.478	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2		NM_032599	
GABRG2	2566	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	161524855	161524855	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:161524855A>G	ENST00000361925.4	+	4	759	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	GABRG2_ENST00000414552.2_Missense_Mutation_p.Y180C|GABRG2_ENST00000356592.3_Missense_Mutation_p.Y180C|GABRG2_ENST00000393933.4_Missense_Mutation_p.Y85C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	180					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.Y180C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGAGTGCTCTACACCCTAAGG	0.368																																																	1	Substitution - Missense(1)	kidney(1)											76.0	77.0	77.0					5																	161524855		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.539A>G	5.37:g.161524855A>G	ENSP00000354651:p.Tyr180Cys		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.176773	0.78564	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93321	0.7871	H	0.96691	3.865	0.80722	D	1	D;P;D	0.89917	1.0;0.949;1.0	D;P;D	0.91635	0.997;0.874;0.999	D	0.95403	0.8491	10	0.87932	D	0	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	180;180;180	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	C	180;180;180;85;85	ENSP00000349000:Y180C;ENSP00000410732:Y180C;ENSP00000354651:Y180C;ENSP00000377510:Y85C;ENSP00000430182:Y85C	ENSP00000349000:Y180C	Y	+	2	0	GABRG2	161457433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.171000	0.94802	2.225000	0.72522	0.460000	0.39030	TAC		0.368	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			
GALNT5	11227	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	158114785	158114785	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:158114785G>A	ENST00000259056.4	+	1	676	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	64					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.G64E(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CCAGACCAAGGAAAAATTTTT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											116.0	128.0	124.0					2																	158114785		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.191G>A	2.37:g.158114785G>A	ENSP00000259056:p.Gly64Glu		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	G	1.037	-0.679971	0.03353	.	.	ENSG00000136542	ENST00000259056	T	0.56275	0.47	5.29	-8.7	0.00851	.	1.829720	0.02329	N	0.073796	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10847	-1.0612	10	0.18276	T	0.48	.	0.3077	0.00283	0.2687:0.191:0.2765:0.2637	.	64	Q7Z7M9	GALT5_HUMAN	E	64	ENSP00000259056:G64E	ENSP00000259056:G64E	G	+	2	0	GALNT5	157823031	0.026000	0.19158	0.002000	0.10522	0.080000	0.17528	-0.269000	0.08596	-0.927000	0.03766	-2.309000	0.00256	GGA		0.478	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2		NM_014568	
GEMIN5	25929	hgsc.bcm.edu;ucsc.edu	37	5	154287300	154287300	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:154287300delA	ENST00000285873.7	-	16	2321	c.2246delT	c.(2245-2247)ttgfs	p.L749fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	749					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGAGTTCTCAAGGTGGGCTT	0.413																																																	0													191.0	192.0	192.0					5																	154287300		2203	4300	6503	SO:0001589	frameshift_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2246delT	5.37:g.154287300delA	ENSP00000285873:p.Leu749fs		Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Frame_Shift_Del	DEL	ENST00000285873.7	37	CCDS4330.1																																																																																				0.413	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			
HOOK3	84376	broad.mit.edu;ucsc.edu	37	8	42828459	42828459	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr8:42828459G>A	ENST00000307602.4	+	12	1350	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	384					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.E384K(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			CAGATTATCCGAAGAATCAAA	0.299			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	1	Substitution - Missense(1)	kidney(1)											56.0	61.0	60.0					8																	42828459		2203	4296	6499	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1150G>A	8.37:g.42828459G>A	ENSP00000305699:p.Glu384Lys		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881130	0.72294	.	.	ENSG00000168172	ENST00000307602	T	0.19105	2.17	5.45	4.56	0.56223	.	0.044866	0.85682	D	0.000000	T	0.26810	0.0656	M	0.62723	1.935	0.54753	D	0.999989	P	0.45240	0.854	B	0.41571	0.36	T	0.07102	-1.0790	10	0.52906	T	0.07	-17.1775	15.8313	0.78752	0.0:0.0:0.8628:0.1371	.	384	Q86VS8	HOOK3_HUMAN	K	384	ENSP00000305699:E384K	ENSP00000305699:E384K	E	+	1	0	HOOK3	42947616	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	9.252000	0.95491	1.404000	0.46819	0.563000	0.77884	GAA		0.299	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2		NM_032410	
IGF2R	3482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	160468352	160468352	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr6:160468352G>A	ENST00000356956.1	+	16	2361	c.2213G>A	c.(2212-2214)gGc>gAc	p.G738D		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	738					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.G738D(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	GCGGGAGTGGGCTTCCCTGAA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											73.0	71.0	72.0					6																	160468352		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2213G>A	6.37:g.160468352G>A	ENSP00000349437:p.Gly738Asp		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	19.56	3.849768	0.71603	.	.	ENSG00000197081	ENST00000356956	T	0.13778	2.56	5.6	5.6	0.85130	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10314	-1.0635	10	0.59425	D	0.04	-8.7716	19.9823	0.97331	0.0:0.0:1.0:0.0	.	738	P11717	MPRI_HUMAN	D	738	ENSP00000349437:G738D	ENSP00000349437:G738D	G	+	2	0	IGF2R	160388342	1.000000	0.71417	0.000000	0.03702	0.240000	0.25518	9.386000	0.97228	2.788000	0.95919	0.650000	0.86243	GGC		0.502	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1		NM_000876	
ITGA6	3655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173352130	173352130	+	Silent	SNP	G	G	A	rs141344340	byFrequency	TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:173352130G>A	ENST00000264106.6	+	16	2429	c.2226G>A	c.(2224-2226)acG>acA	p.T742T	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Silent_p.T584T|ITGA6_ENST00000343713.4_Silent_p.T698T|ITGA6_ENST00000409080.1_Silent_p.T703T|ITGA6_ENST00000264107.7_Silent_p.T703T|ITGA6_ENST00000375221.2_Silent_p.T742T			P23229	ITA6_HUMAN	integrin, alpha 6	742					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T703T(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGATTGCAACGTTTCCAGACA	0.433																																																	2	Substitution - coding silent(2)	kidney(2)						G	,	2,4404	2.1+/-5.4	0,2,2201	82.0	84.0	83.0		2109,2109	-11.0	0.0	2	dbSNP_134	83	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	ITGA6	NM_000210.2,NM_001079818.1	,	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	,	703/1074,703/1092	173352130	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2226G>A	2.37:g.173352130G>A			B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Silent	SNP	ENST00000264106.6	37																																																																																					0.433	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				
KARS	3735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	75678248	75678248	+	Intron	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr16:75678248G>A	ENST00000302445.3	-	2	102				KARS_ENST00000319410.5_Silent_p.L27L|KARS_ENST00000568378.1_Silent_p.L27L	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase						cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)	p.L27L(1)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CCCAGTCGCAGTTCCCTGTGA	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	54.0	56.0					16																	75678248		1568	3582	5150	SO:0001627	intron_variant	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.63-2627C>T	16.37:g.75678248G>A			A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	CCDS10923.1																																																																																				0.522	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1		NM_005548	
KCNT2	343450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	196250087	196250087	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:196250087C>A	ENST00000294725.9	-	25	3728	c.2813G>T	c.(2812-2814)aGa>aTa	p.R938I	KCNT2_ENST00000367431.4_Missense_Mutation_p.R864I|KCNT2_ENST00000609185.1_Missense_Mutation_p.R864I|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.R914I|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	938					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.R938I(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGCATAAGTTCTGATCCATAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											94.0	93.0	93.0					1																	196250087		2202	4300	6502	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2813G>T	1.37:g.196250087C>A	ENSP00000294725:p.Arg938Ile		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186609	0.94885	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.76060	-0.99;-0.99;-0.99	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000003	D	0.86814	0.6023	M	0.84683	2.71	0.80722	D	1	P;D;D;D;P	0.60160	0.955;0.973;0.973;0.987;0.955	P;P;P;P;P	0.61800	0.726;0.894;0.859;0.894;0.726	D	0.88332	0.2969	10	0.72032	D	0.01	-19.9645	18.5703	0.91133	0.0:1.0:0.0:0.0	.	938;896;914;864;938	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	I	914;864;938	ENSP00000356403:R914I;ENSP00000356401:R864I;ENSP00000294725:R938I	ENSP00000294725:R938I	R	-	2	0	KCNT2	194516710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.201000	0.77847	2.753000	0.94483	0.557000	0.71058	AGA		0.343	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2		NM_198503	
KDM4D	55693	broad.mit.edu;hgsc.bcm.edu	37	11	94730799	94730799	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:94730799A>G	ENST00000335080.5	+	3	1095	c.263A>G	c.(262-264)cAa>cGa	p.Q88R	KDM4D_ENST00000536741.1_Missense_Mutation_p.Q88R	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	88					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.Q88R(1)		endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GTGTTTACTCAATACCATAAA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											53.0	58.0	57.0					11																	94730799		2201	4298	6499	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.263A>G	11.37:g.94730799A>G	ENSP00000334181:p.Gln88Arg		B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312400	0.40895	.	.	ENSG00000186280	ENST00000335080	T	0.40225	1.04	3.91	2.76	0.32466	.	0.000000	0.64402	U	0.000005	T	0.64962	0.2646	M	0.89214	3.015	0.44966	D	0.997981	D	0.89917	1.0	D	0.91635	0.999	T	0.66320	-0.5953	10	0.56958	D	0.05	-14.2464	8.2463	0.31691	0.822:0.0:0.0:0.178	.	88	Q6B0I6	KDM4D_HUMAN	R	88	ENSP00000334181:Q88R	ENSP00000334181:Q88R	Q	+	2	0	KDM4D	94370447	1.000000	0.71417	0.834000	0.33040	0.077000	0.17291	8.768000	0.91737	0.832000	0.34804	-0.496000	0.04628	CAA		0.443	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2		NM_018039	
VWA8	23078	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	42263606	42263606	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr13:42263606G>T	ENST00000379310.3	-	34	4083	c.4015C>A	c.(4015-4017)Caa>Aaa	p.Q1339K	VWA8_ENST00000478987.1_5'UTR	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1339						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.Q1339K(1)									GATGATAGTTGATCACTGGAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											93.0	85.0	88.0					13																	42263606		1824	4084	5908	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4015C>A	13.37:g.42263606G>T	ENSP00000368612:p.Gln1339Lys		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571944	0.45798	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000478987	T	0.09817	2.94	5.21	5.21	0.72293	.	0.069768	0.56097	D	0.000021	T	0.11707	0.0285	L	0.47716	1.5	0.80722	D	1	P	0.38922	0.651	B	0.32677	0.15	T	0.10291	-1.0636	10	0.29301	T	0.29	.	19.1184	0.93351	0.0:0.0:1.0:0.0	.	1339	A3KMH1	K0564_HUMAN	K	1243;1339;110	ENSP00000368612:Q1339K	ENSP00000251030:Q1243K	Q	-	1	0	KIAA0564	41161606	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	9.018000	0.93657	2.600000	0.87896	0.650000	0.86243	CAA		0.363	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058	
KIF20B	9585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	91469205	91469205	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr10:91469205T>G	ENST00000371728.3	+	4	403	c.338T>G	c.(337-339)tTc>tGc	p.F113C	KIF20B_ENST00000416354.1_Missense_Mutation_p.F113C|KIF20B_ENST00000394289.2_Missense_Mutation_p.F113C|KIF20B_ENST00000260753.4_Missense_Mutation_p.F113C	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	113	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.F113C(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCACAGAAATTCAGTTTTTCC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											83.0	82.0	82.0					10																	91469205		2203	4300	6503	SO:0001583	missense	9585			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.338T>G	10.37:g.91469205T>G	ENSP00000360793:p.Phe113Cys		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	T	21.1	4.104206	0.76983	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728;ENST00000439656;ENST00000447580	D;D;D;D;T	0.83335	-1.71;-1.71;-1.71;-1.71;1.42	5.26	5.26	0.73747	Kinesin, motor domain (4);	0.000000	0.50627	D	0.000118	D	0.91700	0.7376	M	0.85041	2.73	0.80722	D	1	D;P	0.89917	1.0;0.746	D;P	0.91635	0.999;0.79	D	0.92906	0.6343	10	0.66056	D	0.02	-8.9819	15.4672	0.75409	0.0:0.0:0.0:1.0	.	113;113	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	C	113	ENSP00000260753:F113C;ENSP00000411545:F113C;ENSP00000377830:F113C;ENSP00000360793:F113C;ENSP00000390946:F113C	ENSP00000260753:F113C	F	+	2	0	KIF20B	91459185	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.613000	0.74192	2.104000	0.64026	0.533000	0.62120	TTC		0.358	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1		NM_016195	
KIF21B	23046	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200960791	200960791	+	Silent	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:200960791G>T	ENST00000422435.2	-	17	2764	c.2448C>A	c.(2446-2448)acC>acA	p.T816T	KIF21B_ENST00000360529.5_Silent_p.T816T|KIF21B_ENST00000461742.2_Silent_p.T816T|KIF21B_ENST00000332129.2_Silent_p.T816T	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	816					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T816T(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCACCTCCTGGGTCTTCCTCC	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	60.0	61.0					1																	200960791		2203	4300	6503	SO:0001819	synonymous_variant	23046			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2448C>A	1.37:g.200960791G>T			B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	ENST00000422435.2	37	CCDS58056.1																																																																																				0.612	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1		XM_371332	
LOC441666	441666	broad.mit.edu	37	10	42833429	42833429	+	RNA	SNP	A	A	G	rs201623926		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr10:42833429A>G	ENST00000609841.1	-	0	474					NR_024380.1																						TCTTCTCCTAAGTCTATTTGA	0.333																																																	0																																												441666																															10.37:g.42833429A>G				RNA	SNP	ENST00000609841.1	37																																																																																					0.333	RP11-313J2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472483.1			
LRRC8D	55144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	90400298	90400298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:90400298delT	ENST00000337338.5	+	3	2078	c.1671delT	c.(1669-1671)tatfs	p.Y557fs	LRRC8D_ENST00000394593.3_Frame_Shift_Del_p.Y557fs	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	557					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCTGGGTGTATTTGCTCAAAA	0.423																																																	0													71.0	71.0	71.0					1																	90400298		2203	4300	6503	SO:0001589	frameshift_variant	55144			AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.1671delT	1.37:g.90400298delT	ENSP00000338887:p.Tyr557fs		D3DT29|Q6UWB2|Q9NVW3	Frame_Shift_Del	DEL	ENST00000337338.5	37	CCDS726.1																																																																																				0.423	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2		NM_018103	
MBD6	114785	broad.mit.edu;ucsc.edu	37	12	57921633	57921633	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:57921633G>T	ENST00000355673.3	+	9	2595	c.2239G>T	c.(2239-2241)Gac>Tac	p.D747Y	MBD6_ENST00000431731.2_Missense_Mutation_p.D747Y	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	747	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.D747Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTCAACAGGTGACCTGTCTTC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											110.0	119.0	116.0					12																	57921633		2202	4297	6499	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.2239G>T	12.37:g.57921633G>T	ENSP00000347896:p.Asp747Tyr		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.087537	0.36855	.	.	ENSG00000166987	ENST00000355673;ENST00000431731;ENST00000300263	.	.	.	4.94	4.94	0.65067	.	0.122045	0.35805	N	0.002972	T	0.53899	0.1825	N	0.08118	0	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.63541	-0.6614	9	0.72032	D	0.01	-6.2877	15.5552	0.76187	0.0:0.0:1.0:0.0	.	747;747	Q6P0P0;Q96DN6	.;MBD6_HUMAN	Y	747;747;211	.	ENSP00000300263:D211Y	D	+	1	0	MBD6	56207900	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.137000	0.64789	2.728000	0.93425	0.561000	0.74099	GAC		0.557	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			
MED14	9282	broad.mit.edu;hgsc.bcm.edu	37	X	40568603	40568603	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chrX:40568603T>G	ENST00000324817.1	-	10	1400	c.1282A>C	c.(1282-1284)Aac>Cac	p.N428H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	428	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.N428H(1)		NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACCTACAGTTTTCATTGGCA	0.323																																																	1	Substitution - Missense(1)	kidney(1)											54.0	45.0	48.0					X																	40568603		2203	4300	6503	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1282A>C	X.37:g.40568603T>G	ENSP00000323720:p.Asn428His		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	ENST00000324817.1	37	CCDS14254.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386656	0.82902	.	.	ENSG00000180182	ENST00000324817	T	0.44083	0.93	5.31	5.31	0.75309	.	0.041578	0.85682	D	0.000000	T	0.46386	0.1390	L	0.36672	1.1	0.80722	D	1	D	0.61697	0.99	P	0.53593	0.73	T	0.41805	-0.9488	10	0.46703	T	0.11	.	14.3845	0.66934	0.0:0.0:0.0:1.0	.	428	O60244	MED14_HUMAN	H	428	ENSP00000323720:N428H	ENSP00000323720:N428H	N	-	1	0	MED14	40453547	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.698000	0.84413	1.776000	0.52262	0.425000	0.28330	AAC		0.323	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1		NM_004229	
HOXC10	3226	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	54385596	54385596	+	IGR	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:54385596C>T	ENST00000303460.4	+	0	1936				HOXC-AS2_ENST00000604081.1_RNA|MIR196A2_ENST00000385189.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10						anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CAACAAGAAACTGCCTGAGTT	0.552																																																	0													64.0	57.0	60.0					12																	54385596		1568	3582	5150	SO:0001628	intergenic_variant	406973				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031		12.37:g.54385596C>T			O15219|O15220|Q9BVD5	RNA	SNP	ENST00000303460.4	37	CCDS8868.1																																																																																				0.552	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			
MIR520D	574482	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	54223429	54223429	+	RNA	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:54223429G>T	ENST00000385002.1	+	0	80				MIR520G_ENST00000385064.1_RNA|RNU6-803P_ENST00000516034.1_RNA|MIR517B_ENST00000385102.1_RNA	NR_030204.1				microRNA 520d																		GTGGGTTACGGTTTGAGAAAA	0.438																																																	0													112.0	104.0	107.0					19																	54223429		1568	3582	5150			574482					19q13.42	2011-09-12		2008-12-18	ENSG00000207735	ENSG00000207735		"""ncRNAs / Micro RNAs"""	32114	non-coding RNA	RNA, micro				MIRN520D			Standard	NR_030204		Approved	hsa-mir-520d	uc021vah.1				19.37:g.54223429G>T				RNA	SNP	ENST00000385002.1	37																																																																																					0.438	MIR520D-201	KNOWN	basic	miRNA	miRNA			NR_030204	
MST1R	4486	broad.mit.edu	37	3	49940468	49940476	+	In_Frame_Del	DEL	CCTTGCTCA	CCTTGCTCA	-	rs569815986		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	CCTTGCTCA	CCTTGCTCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:49940468_49940476delCCTTGCTCA	ENST00000296474.3	-	1	594_602	c.567_575delTGAGCAAGG	c.(565-576)gttgagcaaggc>gtc	p.EQG190del	CTD-2330K9.3_ENST00000419183.1_5'Flank|CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_In_Frame_Del_p.EQG190del	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	190	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGAGGCCTGGCCTTGCTCAACCACAGTTA	0.627																																																	0																																										SO:0001651	inframe_deletion	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.567_575delTGAGCAAGG	3.37:g.49940468_49940476delCCTTGCTCA	ENSP00000296474:p.Glu190_Gly192del		B5A944|B5A945|B5A946|B5A947	In_Frame_Del	DEL	ENST00000296474.3	37	CCDS2807.1																																																																																				0.627	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1			
MME	4311	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	154856020	154856021	+	Missense_Mutation	DNP	GC	GC	TG	rs572687446		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:154856020_154856021GC>TG	ENST00000460393.1	+	9	970_971	c.850_851GC>TG	c.(850-852)GCc>TGc	p.A284C	MME_ENST00000492661.1_Missense_Mutation_p.A284C|MME_ENST00000493237.1_Missense_Mutation_p.A284C|MME_ENST00000462745.1_Missense_Mutation_p.A284C|MME_ENST00000360490.2_Missense_Mutation_p.A284C	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	284					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.A284S(1)|p.A284G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	AAAAGAAATTGCCAATGTAAAA	0.351																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	Exception_encountered	3.37:g.154856020_154856021delinsTG	ENSP00000418525:p.Ala284Cys		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	CCDS3172.1																																																																																				0.351	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1		NM_000902	
MTMR12	54545	broad.mit.edu;hgsc.bcm.edu	37	5	32242165	32242165	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:32242165A>G	ENST00000382142.3	-	12	1339	c.1169T>C	c.(1168-1170)tTa>tCa	p.L390S	MTMR12_ENST00000264934.5_Missense_Mutation_p.L390S|MTMR12_ENST00000280285.5_Missense_Mutation_p.L390S	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	390	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.L390S(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TATATTACCTAAAAGAAGAAC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											150.0	145.0	146.0					5																	32242165		2201	4300	6501	SO:0001583	missense	54545			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1169T>C	5.37:g.32242165A>G	ENSP00000371577:p.Leu390Ser		Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Missense_Mutation	SNP	ENST00000382142.3	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972011	0.34754	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.90004	-2.6;-2.6;-2.6	5.68	5.68	0.88126	Myotubularin phosphatase domain (1);	0.442058	0.20636	N	0.088487	T	0.77745	0.4176	N	0.13140	0.3	0.33804	D	0.627031	P;B;B	0.38504	0.634;0.216;0.381	B;B;B	0.34452	0.124;0.115;0.183	T	0.82297	-0.0527	10	0.34782	T	0.22	.	9.7354	0.40384	0.9225:0.0:0.0775:0.0	.	390;390;390	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	S	390	ENSP00000280285:L390S;ENSP00000371577:L390S;ENSP00000264934:L390S	ENSP00000264934:L390S	L	-	2	0	MTMR12	32277922	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.577000	0.46042	2.172000	0.68678	0.533000	0.62120	TTA		0.333	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1		NM_019061	
MUC2	4583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1097746	1097746	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:1097746C>T	ENST00000441003.2	+	36	6866	c.6839C>T	c.(6838-6840)tCc>tTc	p.S2280F	MUC2_ENST00000361558.6_3'UTR	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4642					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.S2280F(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGATCGTCTCCAACTGTGAG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											57.0	63.0	61.0					11																	1097746		2143	4248	6391	SO:0001583	missense	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.6839C>T	11.37:g.1097746C>T	ENSP00000415183:p.Ser2280Phe		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	5.114	0.206619	0.09704	.	.	ENSG00000198788	ENST00000441003	T	0.14144	2.53	3.67	-0.826	0.10805	.	.	.	.	.	T	0.23370	0.0565	M	0.66297	2.02	0.09310	N	1	D	0.61080	0.989	P	0.53809	0.735	T	0.12502	-1.0545	9	0.72032	D	0.01	.	8.9629	0.35858	0.5363:0.3408:0.1229:0.0	.	2280	E7EUV1	.	F	2280	ENSP00000415183:S2280F	ENSP00000415183:S2280F	S	+	2	0	MUC2	1087746	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.231000	0.17872	-0.413000	0.07507	0.561000	0.74099	TCC		0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2		NM_002457	
MUC4	4585	broad.mit.edu	37	3	195507059	195507059	+	Missense_Mutation	SNP	T	T	C	rs76367261		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:195507059T>C	ENST00000463781.3	-	2	11851	c.11392A>G	c.(11392-11394)Act>Gct	p.T3798A	MUC4_ENST00000475231.1_Missense_Mutation_p.T3798A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T3798A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											8.0	7.0	7.0					3																	195507059		640	1492	2132	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11392A>G	3.37:g.195507059T>C	ENSP00000417498:p.Thr3798Ala		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	5.737	0.320503	0.10845	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36878	1.23;1.27	.	.	.	.	101.427000	0.03934	U	0.285798	T	0.15349	0.0370	N	0.08118	0	0.19575	N	0.999967	B	0.13594	0.008	B	0.08055	0.003	T	0.13980	-1.0489	8	.	.	.	.	4.6071	0.12383	0.0:0.6657:0.0:0.3343	.	3670	E7ESK3	.	A	3798	ENSP00000417498:T3798A;ENSP00000420243:T3798A	.	T	-	1	0	MUC4	196991838	0.003000	0.15002	0.034000	0.17996	0.034000	0.12701	0.899000	0.28417	-2.094000	0.00854	-2.075000	0.00382	ACT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																																	5	Substitution - Missense(5)	endometrium(2)|kidney(2)|lung(1)											70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645			AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			
NAT1	9	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	18079815	18079815	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr8:18079815A>T	ENST00000517492.1	+	3	897	c.259A>T	c.(259-261)Acg>Tcg	p.T87S	NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000541942.1_Missense_Mutation_p.T87S|NAT1_ENST00000520546.1_Missense_Mutation_p.T87S|NAT1_ENST00000545197.1_Missense_Mutation_p.T149S|NAT1_ENST00000535084.1_Missense_Mutation_p.T87S|NAT1_ENST00000518029.1_Missense_Mutation_p.T87S|NAT1_ENST00000539092.1_Missense_Mutation_p.T87S|NAT1_ENST00000307719.4_Missense_Mutation_p.T87S			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)		p.T149S(1)|p.T87S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TTTTGAGACCACGATGTTGGG	0.473																																																	2	Substitution - Missense(2)	kidney(2)											184.0	167.0	173.0					8																	18079815		2203	4300	6503	SO:0001583	missense	9			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.259A>T	8.37:g.18079815A>T	ENSP00000429407:p.Thr87Ser		C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000517492.1	37	CCDS6007.1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.489446	0.26686	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.02177	4.41;4.41;4.41;4.41;4.41;4.41;4.41;4.41	4.37	3.2	0.36748	.	0.182863	0.46145	D	0.000318	T	0.02970	0.0088	M	0.67953	2.075	0.34956	D	0.751699	P;B	0.39352	0.669;0.183	B;B	0.35510	0.204;0.148	T	0.32188	-0.9916	10	0.56958	D	0.05	.	6.016	0.19603	0.8807:0.0:0.1193:0.0	.	149;87	F5H5R8;P18440	.;ARY1_HUMAN	S	87;87;149;87;87;87;87;87	ENSP00000444609:T87S;ENSP00000307218:T87S;ENSP00000443194:T149S;ENSP00000440434:T87S;ENSP00000440900:T87S;ENSP00000428270:T87S;ENSP00000429407:T87S;ENSP00000429341:T87S	ENSP00000307218:T87S	T	+	1	0	NAT1	18124095	0.056000	0.20664	0.912000	0.35992	0.040000	0.13550	3.611000	0.54132	1.746000	0.51805	0.377000	0.23210	ACG		0.473	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374828.1		NM_000662	
NBEA	26960	broad.mit.edu	37	13	35738588	35738588	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr13:35738588A>G	ENST00000400445.3	+	24	4709	c.4175A>G	c.(4174-4176)aAc>aGc	p.N1392S	NBEA_ENST00000379939.2_Missense_Mutation_p.N1392S|NBEA_ENST00000540320.1_Missense_Mutation_p.N1392S|NBEA_ENST00000310336.4_Missense_Mutation_p.N1392S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1392					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.N1392S(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATGGTAGACAACATCATCATT	0.333																																																	1	Substitution - Missense(1)	kidney(1)											151.0	140.0	143.0					13																	35738588		1903	4131	6034	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4175A>G	13.37:g.35738588A>G	ENSP00000383295:p.Asn1392Ser		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071559	0.76301	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.76	5.76	0.90799	.	0.047734	0.85682	D	0.000000	T	0.66386	0.2784	L	0.46885	1.475	0.80722	D	1	D;P	0.69078	0.997;0.573	D;B	0.75020	0.985;0.235	T	0.65282	-0.6206	10	0.44086	T	0.13	.	16.3786	0.83431	1.0:0.0:0.0:0.0	.	1392;1392	Q8NFP9;Q5T321	NBEA_HUMAN;.	S	1392;1392;1392;1392;54	ENSP00000440951:N1392S;ENSP00000383295:N1392S;ENSP00000369271:N1392S;ENSP00000308534:N1392S	ENSP00000308534:N1392S	N	+	2	0	NBEA	34636588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.276000	0.95745	2.323000	0.78572	0.528000	0.53228	AAC		0.333	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_015678	
NEFH	4744	hgsc.bcm.edu	37	22	29885580	29885581	+	In_Frame_Ins	INS	-	-	AGGCCAAGTCCCCTGAGA	rs200984527|rs267607533		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr22:29885580_29885581insAGGCCAAGTCCCCTGAGA	ENST00000310624.6	+	4	1984_1985	c.1951_1952insAGGCCAAGTCCCCTGAGA	c.(1951-1953)aag>aAGGCCAAGTCCCCTGAGAag	p.651_651K>KAKSPEK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	657	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCCCCTGAGAAGGCCAAGTCC	0.569																																																	0																																										SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885580_29885581insAGGCCAAGTCCCCTGAGA	ENSP00000311997:p.AlaLysSerProGluLys657dup		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				0.569	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2		NM_021076	
NEK10	152110	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	27332981	27332982	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:27332981_27332982insAA	ENST00000429845.2	-	18	1831_1832	c.1469_1470insTT	c.(1468-1470)ttafs	p.L490fs	NEK10_ENST00000357467.2_5'Flank|NEK10_ENST00000341435.5_Frame_Shift_Ins_p.L490fs			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	490					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTACCACTAATAAATTCAGCTT	0.356																																																	0																																										SO:0001589	frameshift_variant	152110			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.1468_1469dupTT	3.37:g.27332982_27332983dupAA	ENSP00000395849:p.Leu490fs		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Frame_Shift_Ins	INS	ENST00000429845.2	37																																																																																					0.356	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1		NM_152534	
OR1F1	4992	hgsc.bcm.edu;ucsc.edu	37	16	3254418	3254418	+	Missense_Mutation	SNP	C	C	A	rs61731432	byFrequency	TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr16:3254418C>A	ENST00000304646.2	+	1	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	58					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCTGCACACCCCCATGTACTT	0.532																																																	0													223.0	185.0	198.0					16																	3254418		2197	4300	6497	SO:0001583	missense	4992			Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.172C>A	16.37:g.3254418C>A	ENSP00000305424:p.Pro58Thr		O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448435	0.63178	.	.	ENSG00000168124	ENST00000304646	T	0.02032	4.49	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000032	T	0.22126	0.0533	H	0.99026	4.405	0.48395	D	0.999645	D	0.58620	0.983	P	0.58454	0.839	T	0.47249	-0.9132	10	0.87932	D	0	.	16.3456	0.83132	0.0:1.0:0.0:0.0	.	58	O43749	OR1F1_HUMAN	T	58	ENSP00000305424:P58T	ENSP00000305424:P58T	P	+	1	0	OR1F1	3194419	1.000000	0.71417	1.000000	0.80357	0.288000	0.27193	4.559000	0.60796	2.451000	0.82905	0.385000	0.25706	CCC		0.532	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1			
OR8B12	219858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	124413242	124413242	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:124413242G>T	ENST00000306842.2	-	1	333	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	103						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F103L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CAAAGAAGCAGAAGAAGAAGA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											90.0	83.0	85.0					11																	124413242		2201	4299	6500	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.309C>A	11.37:g.124413242G>T	ENSP00000307159:p.Phe103Leu		B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943894	0.34283	.	.	ENSG00000170953	ENST00000306842	T	0.00309	8.16	3.89	0.928	0.19443	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000016	T	0.00210	0.0006	M	0.62088	1.915	0.29941	N	0.821075	B	0.18610	0.029	B	0.20955	0.032	T	0.36065	-0.9763	10	0.66056	D	0.02	.	3.5124	0.07713	0.0864:0.1449:0.4712:0.2975	.	103	Q8NGG6	OR8BC_HUMAN	L	103	ENSP00000307159:F103L	ENSP00000307159:F103L	F	-	3	2	OR8B12	123918452	0.000000	0.05858	0.999000	0.59377	0.633000	0.38033	-0.947000	0.03901	0.215000	0.20761	-0.142000	0.14014	TTC		0.468	OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1			
PCDHA12	56137	broad.mit.edu	37	5	140256584	140256584	+	Silent	SNP	G	G	A	rs368334312		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr5:140256584G>A	ENST00000398631.2	+	1	1527	c.1527G>A	c.(1525-1527)tcG>tcA	p.S509S	PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	509	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S509S(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACGTGTCGGTGCACGCGG	0.701																																					Pancreas(113;759 1672 13322 24104 50104)												1	Substitution - coding silent(1)	kidney(1)						G	,,,,,,,,,,,,,,,	1,4405	2.1+/-5.4	0,1,2202	72.0	72.0	72.0		,,,1527,,,,,,,,,,,,1527	-3.5	1.0	5		72	0,8598		0,0,4299	no	intron,intron,intron,coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHA9,PCDHA12,PCDHA11,PCDHA10,PCDHA8,PCDHA7,PCDHA6,PCDHA5,PCDHA4,PCDHA3,PCDHA2,PCDHA1	NM_018900.2,NM_018901.2,NM_018902.3,NM_018903.2,NM_018905.2,NM_018906.2,NM_018907.2,NM_018908.2,NM_018909.2,NM_018910.2,NM_018911.2,NM_031411.1,NM_031849.1,NM_031857.1,NM_031860.1,NM_031864.1	,,,,,,,,,,,,,,,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	,,,,,,,,,,,,,,,	,,,509/942,,,,,,,,,,,,509/793	140256584	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1527G>A	5.37:g.140256584G>A			O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	CCDS47285.1																																																																																				0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2		NM_018903	
PIAS1	8554	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	68445966	68445966	+	Silent	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr15:68445966C>T	ENST00000249636.6	+	7	1015	c.867C>T	c.(865-867)tcC>tcT	p.S289S	PIAS1_ENST00000545237.1_Silent_p.S291S	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	289					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S289S(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AACAGTTGTCCTCAACAGTTC	0.323																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	93.0	94.0					15																	68445966		1830	4083	5913	SO:0001819	synonymous_variant	8554			AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.867C>T	15.37:g.68445966C>T			B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Silent	SNP	ENST00000249636.6	37	CCDS45290.1																																																																																				0.323	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			
PKD1	5310	broad.mit.edu;hgsc.bcm.edu	37	16	2158399	2158400	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr16:2158399_2158400CC>AA	ENST00000262304.4	-	15	6976_6977	c.6768_6769GG>TT	c.(6766-6771)ctGGtg>ctTTtg	p.V2257L	PKD1_ENST00000423118.1_Missense_Mutation_p.V2257L|PKD1_ENST00000561991.1_5'Flank	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2257	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.L2256L(1)|p.V2257L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGATGGGCACCAGGCGCTCGG	0.619																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6768_6769delinsAA	16.37:g.2158399_2158400delinsAA	ENSP00000262304:p.Val2257Leu		Q15140|Q15141	Missense_Mutation|Silent	SNP	ENST00000262304.4	37	CCDS32369.1																																																																																				0.619	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			
PKHD1L1	93035	hgsc.bcm.edu;ucsc.edu	37	8	110523095	110523095	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr8:110523095delG	ENST00000378402.5	+	71	11589	c.11485delG	c.(11485-11487)gaafs	p.E3829fs		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3829					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAATCTTATGAAGTTTACTT	0.443										HNSCC(38;0.096)																																							0													188.0	183.0	184.0					8																	110523095		1939	4152	6091	SO:0001589	frameshift_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11485delG	8.37:g.110523095delG	ENSP00000367655:p.Glu3829fs		Q567P2|Q9UF27	Frame_Shift_Del	DEL	ENST00000378402.5	37	CCDS47911.1																																																																																				0.443	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	
PLXNB1	5364	broad.mit.edu	37	3	48463743	48463743	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:48463743G>T	ENST00000358536.4	-	5	1685	c.1416C>A	c.(1414-1416)agC>agA	p.S472R	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S472R|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S472R|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S472R	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	472	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)	p.S472R(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTCACTGTGCTCTGGGTCA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											36.0	33.0	34.0					3																	48463743		2203	4300	6503	SO:0001583	missense	5364			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.1416C>A	3.37:g.48463743G>T	ENSP00000351338:p.Ser472Arg		A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406372	0.42715	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000456774	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.39	2.18	0.27775	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.478068	0.24379	N	0.039039	T	0.02767	0.0083	N	0.16602	0.42	0.80722	D	1	B;B	0.22851	0.076;0.034	B;B	0.22386	0.017;0.039	T	0.50906	-0.8772	10	0.13470	T	0.59	.	7.0479	0.25056	0.0986:0.0:0.6357:0.2657	.	472;472	O43157;O43157-2	PLXB1_HUMAN;.	R	472	ENSP00000296440:S472R;ENSP00000351242:S472R;ENSP00000351338:S472R;ENSP00000414199:S472R	ENSP00000296440:S472R	S	-	3	2	PLXNB1	48438747	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.751000	0.38339	0.203000	0.20529	0.650000	0.86243	AGC		0.602	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1		NM_002673	
PRPF19	27339	broad.mit.edu;ucsc.edu	37	11	60658678	60658678	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:60658678G>A	ENST00000227524.4	-	16	1680	c.1475C>T	c.(1474-1476)tCa>tTa	p.S492L		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19									p.S492L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CATGCCTGTTGAAGCGATGAA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											80.0	67.0	71.0					11																	60658678		2203	4299	6502	SO:0001583	missense	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.1475C>T	11.37:g.60658678G>A	ENSP00000227524:p.Ser492Leu			Missense_Mutation	SNP	ENST00000227524.4	37	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158961	0.78226	.	.	ENSG00000110107	ENST00000227524;ENST00000535326	D;T	0.84146	-1.81;-0.67	5.3	5.3	0.74995	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93367	0.7885	M	0.90483	3.12	0.80722	D	1	D	0.65815	0.995	D	0.67725	0.953	D	0.94038	0.7307	10	0.62326	D	0.03	-11.1815	16.9259	0.86176	0.0:0.0:1.0:0.0	.	492	Q9UMS4	PRP19_HUMAN	L	492;107	ENSP00000227524:S492L;ENSP00000445435:S107L	ENSP00000227524:S492L	S	-	2	0	PRPF19	60415254	1.000000	0.71417	0.317000	0.25265	0.995000	0.86356	8.616000	0.90924	2.763000	0.94921	0.637000	0.83480	TCA		0.542	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1		NM_014502	
PTPRG	5793	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	62258667	62258667	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:62258667C>G	ENST00000474889.1	+	22	3606	c.3229C>G	c.(3229-3231)Ctg>Gtg	p.L1077V	PTPRG_ENST00000295874.10_Missense_Mutation_p.L1048V|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1077	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L1077V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGACAGCATGCTGCAACAGAT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											163.0	140.0	148.0					3																	62258667		2203	4300	6503	SO:0001583	missense	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3229C>G	3.37:g.62258667C>G	ENSP00000418112:p.Leu1077Val		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142268	0.77775	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.85702	-2.02;-2.02	5.45	3.6	0.41247	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.073976	0.56097	D	0.000028	D	0.90957	0.7157	M	0.81239	2.535	0.80722	D	1	D;D;D	0.65815	0.979;0.988;0.995	P;P;D	0.68943	0.652;0.87;0.961	D	0.91438	0.5171	10	0.87932	D	0	.	10.5134	0.44874	0.0:0.7884:0.0:0.2116	.	323;1048;1077	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	V	1077;1048	ENSP00000418112:L1077V;ENSP00000295874:L1048V	ENSP00000295874:L1048V	L	+	1	2	PTPRG	62233707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.118000	0.41949	1.404000	0.46819	0.561000	0.74099	CTG		0.433	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1		NM_002841	
PTPRM	5797	broad.mit.edu;ucsc.edu	37	18	8113697	8113697	+	Silent	SNP	T	T	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr18:8113697T>A	ENST00000332175.8	+	12	3107	c.2070T>A	c.(2068-2070)acT>acA	p.T690T	PTPRM_ENST00000580170.1_Silent_p.T690T|PTPRM_ENST00000400060.4_Silent_p.T690T|PTPRM_ENST00000400053.4_Silent_p.T628T|PTPRM_ENST00000444013.1_Silent_p.T477T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	690					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T690T(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTGGAACACTCCCCTTCTCC	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											110.0	114.0	113.0					18																	8113697		2203	4300	6503	SO:0001819	synonymous_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2070T>A	18.37:g.8113697T>A			A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	CCDS11840.1																																																																																				0.423	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			
RALGAPA2	57186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	20493446	20493446	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr20:20493446A>C	ENST00000202677.7	-	32	4574	c.4567T>G	c.(4567-4569)Tta>Gta	p.L1523V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1523					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L1523V(2)		endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTTTCAAGTAATTTGTCAAGA	0.423																																																	2	Substitution - Missense(2)	kidney(2)											153.0	145.0	147.0					20																	20493446		1941	4145	6086	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.4567T>G	20.37:g.20493446A>C	ENSP00000202677:p.Leu1523Val		Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	ENST00000202677.7	37	CCDS46584.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.86|18.86	3.713425|3.713425	0.68730|0.68730	.|.	.|.	ENSG00000188559|ENSG00000188559	ENST00000202677|ENST00000430436	D|.	0.95656|.	-3.77|.	6.11|6.11	-1.35|-1.35	0.09114|0.09114	.|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.75627|0.75627	0.3875|0.3875	M|M	0.87547|0.87547	2.89|2.89	0.36802|0.36802	D|D	0.885415|0.885415	D;D;D|.	0.76494|.	0.973;0.999;0.989|.	P;D;D|.	0.87578|.	0.904;0.998;0.952|.	T|T	0.80200|0.80200	-0.1481|-0.1481	9|5	.|.	.|.	.|.	.|.	13.5662|13.5662	0.61819|0.61819	0.5049:0.0:0.4951:0.0|0.5049:0.0:0.4951:0.0	.|.	1361;1523;1523|.	A8MSM5;Q2PPJ7-2;Q2PPJ7|.	.;.;RGPA2_HUMAN|.	V|K	1523|1339	ENSP00000202677:L1523V|.	.|.	L|N	-|-	1|3	2|2	RALGAPA2|RALGAPA2	20441446|20441446	1.000000|1.000000	0.71417|0.71417	0.630000|0.630000	0.29268|0.29268	0.981000|0.981000	0.71138|0.71138	1.584000|1.584000	0.36589|0.36589	-0.275000|-0.275000	0.09219|0.09219	0.533000|0.533000	0.62120|0.62120	TTA|AAT		0.423	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1		NM_020343	
RBM23	55147	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23371499	23371499	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr14:23371499C>A	ENST00000359890.3	-	11	1218	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	RBM23_ENST00000346528.5_Missense_Mutation_p.E307D|RBM23_ENST00000542016.2_Missense_Mutation_p.E171D|RBM23_ENST00000399922.2_Missense_Mutation_p.E325D|RBM23_ENST00000555209.1_Missense_Mutation_p.E91D	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	341	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.E341D(1)		endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CATCCAGTCGCTCAGTCACAT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											73.0	72.0	72.0					14																	23371499		2013	4198	6211	SO:0001583	missense	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1023G>T	14.37:g.23371499C>A	ENSP00000352956:p.Glu341Asp		D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Missense_Mutation	SNP	ENST00000359890.3	37	CCDS41921.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.870|4.870	0.161721|0.161721	0.09287|0.09287	.|.	.|.	ENSG00000100461|ENSG00000100461	ENST00000553884|ENST00000555209;ENST00000359890;ENST00000338980;ENST00000399922;ENST00000346528;ENST00000542016	.|T;T;T;T;T	.|0.74002	.|-0.8;-0.8;-0.8;-0.8;-0.8	4.82|4.82	-1.4|-1.4	0.08968|0.08968	.|RNA recognition motif domain (1);	.|0.100828	.|0.41396	.|D	.|0.000888	T|T	0.43590|0.43590	0.1254|0.1254	N|N	0.04116|0.04116	-0.275|-0.275	0.36579|0.36579	D|D	0.873423|0.873423	.|B;B;B	.|0.17465	.|0.003;0.003;0.022	.|B;B;B	.|0.19391	.|0.017;0.025;0.024	T|T	0.11690|0.11690	-1.0577|-1.0577	5|10	.|0.14656	.|T	.|0.56	-15.9089|-15.9089	6.3639|6.3639	0.21443|0.21443	0.1335:0.3068:0.0:0.5598|0.1335:0.3068:0.0:0.5598	.|.	.|307;325;341	.|Q86U06-4;Q86U06-2;Q86U06	.|.;.;RBM23_HUMAN	S|D	116|91;341;318;325;307;171	.|ENSP00000452602:E91D;ENSP00000352956:E341D;ENSP00000382806:E325D;ENSP00000339220:E307D;ENSP00000438504:E171D	.|ENSP00000345496:E318D	A|E	-|-	1|3	0|2	RBM23|RBM23	22441339|22441339	0.928000|0.928000	0.31464|0.31464	0.044000|0.044000	0.18714|0.18714	0.024000|0.024000	0.10985|0.10985	0.170000|0.170000	0.16663|0.16663	-0.500000|-0.500000	0.06614|0.06614	-0.251000|-0.251000	0.11542|0.11542	GCG|GAG		0.547	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			
RFTN1	23180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	16368331	16368331	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr3:16368331T>C	ENST00000334133.4	-	8	1471	c.1199A>G	c.(1198-1200)tAt>tGt	p.Y400C	OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron|RFTN1_ENST00000432519.1_Missense_Mutation_p.Y364C|OXNAD1_ENST00000605932.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	400					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.Y400C(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTGCCAGCCATAGGCCGCCAG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											53.0	46.0	48.0					3																	16368331		2203	4300	6503	SO:0001583	missense	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1199A>G	3.37:g.16368331T>C	ENSP00000334153:p.Tyr400Cys		Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274204	0.80580	.	.	ENSG00000131378	ENST00000432519;ENST00000334133	T;T	0.39592	1.07;1.07	5.55	5.55	0.83447	.	0.060541	0.64402	D	0.000002	T	0.64046	0.2563	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67964	-0.5534	10	0.87932	D	0	-18.8615	14.6934	0.69103	0.0:0.0:0.0:1.0	.	364;400	G3XAJ6;Q14699	.;RFTN1_HUMAN	C	364;400	ENSP00000403926:Y364C;ENSP00000334153:Y400C	ENSP00000334153:Y400C	Y	-	2	0	RFTN1	16343335	1.000000	0.71417	0.972000	0.41901	0.795000	0.44927	5.417000	0.66423	2.115000	0.64714	0.528000	0.53228	TAT		0.537	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1		NM_015150	
RINL	126432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39362295	39362295	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:39362295T>G	ENST00000591812.1	-	6	529	c.443A>C	c.(442-444)gAa>gCa	p.E148A	CTC-360G5.6_ENST00000593830.1_RNA|RINL_ENST00000340740.3_Missense_Mutation_p.E34A|RINL_ENST00000598904.1_Missense_Mutation_p.E34A|RINL_ENST00000602238.1_5'Flank			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	148					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E34A(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						ACCTGTGTGTTCATCTCTGGG	0.567																																																	1	Substitution - Missense(1)	kidney(1)											81.0	86.0	85.0					19																	39362295		2203	4300	6503	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.443A>C	19.37:g.39362295T>G	ENSP00000467107:p.Glu148Ala		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148130	0.37923	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.50001	0.76	5.05	1.43	0.22495	.	0.869750	0.09758	N	0.759584	T	0.28532	0.0706	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.26326	-1.0106	10	0.62326	D	0.03	0.0615	10.3425	0.43887	0.0:0.0:0.5572:0.4428	.	148;34	B4DPG5;Q6ZS11	.;RINL_HUMAN	A	34	ENSP00000340369:E34A	ENSP00000340369:E34A	E	-	2	0	RINL	44054135	0.000000	0.05858	0.000000	0.03702	0.389000	0.30415	0.345000	0.19979	0.355000	0.24131	0.260000	0.18958	GAA		0.567	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1		NM_198445	
RNF213	57674	broad.mit.edu;hgsc.bcm.edu	37	17	78337077	78337077	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:78337077A>C	ENST00000582970.1	+	40	11674	c.11531A>C	c.(11530-11532)gAa>gCa	p.E3844A	RNF213_ENST00000336301.6_Missense_Mutation_p.E1917A|RNF213_ENST00000508628.2_Missense_Mutation_p.E3893A|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3844					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E3893A(1)|p.E1917A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCCTGATGGAAGCCCGTTGG	0.562																																																	2	Substitution - Missense(2)	kidney(2)											98.0	88.0	91.0					17																	78337077		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11531A>C	17.37:g.78337077A>C	ENSP00000464087:p.Glu3844Ala		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	A	7.555	0.663588	0.14710	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22743	1.94	5.59	-3.39	0.04868	.	1.765620	0.02221	N	0.064014	T	0.18299	0.0439	L	0.47716	1.5	0.09310	N	1	B;B	0.16802	0.019;0.001	B;B	0.14578	0.011;0.002	T	0.20505	-1.0273	10	0.21014	T	0.42	.	7.7828	0.29074	0.4783:0.1185:0.4032:0.0	.	3893;1917	C9JCP4;Q63HN8	.;RN213_HUMAN	A	3844;3893;1917	ENSP00000338218:E1917A	ENSP00000338218:E1917A	E	+	2	0	RNF213	75951672	0.171000	0.23029	0.000000	0.03702	0.005000	0.04900	0.441000	0.21611	-0.763000	0.04658	0.533000	0.62120	GAA		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914	
RNF213	57674	broad.mit.edu	37	17	78337081	78337081	+	Silent	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:78337081C>G	ENST00000582970.1	+	40	11678	c.11535C>G	c.(11533-11535)gcC>gcG	p.A3845A	RNF213_ENST00000336301.6_Silent_p.A1918A|RNF213_ENST00000508628.2_Silent_p.A3894A|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3845					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1918A(1)|p.A3894A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGATGGAAGCCCGTTGGAACC	0.572																																																	2	Substitution - coding silent(2)	kidney(2)											97.0	86.0	90.0					17																	78337081		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11535C>G	17.37:g.78337081C>G			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914	
SCP2	6342	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	53516318	53516318	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:53516318T>A	ENST00000528311.1	+	15	1639	c.1343T>A	c.(1342-1344)aTg>aAg	p.M448K	SCP2_ENST00000371514.3_Missense_Mutation_p.M529K|SCP2_ENST00000407246.2_Missense_Mutation_p.M505K|SCP2_ENST00000435345.2_Missense_Mutation_p.M125K|SCP2_ENST00000430330.2_Missense_Mutation_p.M122K|SCP2_ENST00000408941.3_3'UTR|SCP2_ENST00000488965.1_3'UTR|SCP2_ENST00000371509.4_Missense_Mutation_p.M485K	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	0					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.M529K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						ACTGGCAACATGGGTCTCGCT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											127.0	129.0	128.0					1																	53516318		2203	4300	6503	SO:0001583	missense	6342			M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1343T>A	1.37:g.53516318T>A	ENSP00000434132:p.Met448Lys		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	CCDS53319.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.630621	0.87660	.	.	ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	6.06	6.06	0.98353	SCP2 sterol-binding domain (2);	0.037040	0.85682	D	0.000000	T	0.59473	0.2196	M	0.90019	3.08	0.80722	D	1	D;D;P;D	0.69078	0.991;0.994;0.907;0.997	D;D;D;D	0.76575	0.958;0.988;0.943;0.988	T	0.68108	-0.5496	10	0.87932	D	0	-25.4539	15.6071	0.76682	0.0:0.0:0.0:1.0	.	505;485;122;529	C9JC79;A6NM69;E1B6W5;P22307	.;.;.;NLTP_HUMAN	K	529;448;485;505;122;125	ENSP00000360569:M529K;ENSP00000434132:M448K;ENSP00000360564:M485K;ENSP00000384569:M505K;ENSP00000406636:M122K;ENSP00000396413:M125K	ENSP00000360564:M485K	M	+	2	0	SCP2	53288906	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.217000	0.77982	2.323000	0.78572	0.528000	0.53228	ATG		0.373	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1		NM_002979	
SEMA4F	10505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74902021	74902021	+	Silent	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:74902021G>T	ENST00000357877.2	+	9	1157	c.1008G>T	c.(1006-1008)ggG>ggT	p.G336G	SEMA4F_ENST00000339773.5_Silent_p.G181G	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	336	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.G336G(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CCAGGGAGGGGGCTACTATCT	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	64.0	64.0					2																	74902021		2203	4300	6503	SO:0001819	synonymous_variant	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1008G>T	2.37:g.74902021G>T			Q542Y7|Q9NS35	Silent	SNP	ENST00000357877.2	37	CCDS1955.1																																																																																				0.522	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2		NM_004263	
SLC18A3	6572	broad.mit.edu;ucsc.edu	37	10	50819157	50819157	+	Missense_Mutation	SNP	T	T	G	rs142721677		TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr10:50819157T>G	ENST00000374115.3	+	1	811	c.371T>G	c.(370-372)aTc>aGc	p.I124S	CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	124					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.I124S(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GACGTGAAGATCGGGGTGCTG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											92.0	90.0	91.0					10																	50819157		2203	4300	6503	SO:0001583	missense	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.371T>G	10.37:g.50819157T>G	ENSP00000363229:p.Ile124Ser		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059243	0.76074	.	.	ENSG00000187714	ENST00000374115	T	0.60672	0.17	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	T	0.73931	0.3650	M	0.73430	2.235	0.58432	D	0.999996	D	0.60160	0.987	D	0.66196	0.942	T	0.77723	-0.2481	10	0.66056	D	0.02	-14.2133	14.603	0.68456	0.0:0.0:0.0:1.0	.	124	Q16572	VACHT_HUMAN	S	124	ENSP00000363229:I124S	ENSP00000363229:I124S	I	+	2	0	SLC18A3	50489163	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.781000	0.85668	1.859000	0.53934	0.459000	0.35465	ATC		0.647	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1		NM_003055	
SPC25	57405	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	169745777	169745777	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:169745777T>G	ENST00000282074.2	-	3	299	c.158A>C	c.(157-159)gAa>gCa	p.E53A	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	53	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.E53A(1)		central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TCGTTCTTCTTCCTTTAATTT	0.299																																																	1	Substitution - Missense(1)	kidney(1)											93.0	91.0	92.0					2																	169745777		2203	4300	6503	SO:0001583	missense	57405			AF225416	CCDS2229.1	2q31.1	2013-06-05	2013-06-05	2007-03-02	ENSG00000152253	ENSG00000152253			24031	protein-coding gene	gene with protein product		609395	"""spindle pole body component 25 homolog (S. cerevisiae)"", ""SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	SPBC25		12477932	Standard	NM_020675		Approved	MGC22228, AD024	uc002uel.3	Q9HBM1	OTTHUMG00000132181	ENST00000282074.2:c.158A>C	2.37:g.169745777T>G	ENSP00000282074:p.Glu53Ala		A8K4X8|D3DPC0	Missense_Mutation	SNP	ENST00000282074.2	37	CCDS2229.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176820	0.78564	.	.	ENSG00000152253	ENST00000282074;ENST00000451987	D;D	0.86030	-2.06;-2.06	5.95	5.95	0.96441	.	0.049895	0.85682	D	0.000000	D	0.87873	0.6287	L	0.32530	0.975	0.51012	D	0.9999	D	0.76494	0.999	D	0.78314	0.991	D	0.88757	0.3254	10	0.66056	D	0.02	-23.8317	12.8095	0.57631	0.0:0.0:0.0:1.0	.	53	Q9HBM1	SPC25_HUMAN	A	53	ENSP00000282074:E53A;ENSP00000393322:E53A	ENSP00000282074:E53A	E	-	2	0	SPC25	169454023	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.011000	0.57124	2.267000	0.75376	0.528000	0.53228	GAA		0.299	SPC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255233.2		NM_020675	
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228883640	228883640	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:228883640T>C	ENST00000392056.3	-	7	1976	c.1930A>G	c.(1930-1932)Aac>Gac	p.N644D	SPHKAP_ENST00000344657.5_Missense_Mutation_p.N644D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	644						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.N644D(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ATTCTCCTGTTCATGGAGTCC	0.478																																																	2	Substitution - Missense(2)	kidney(2)											100.0	95.0	97.0					2																	228883640		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1930A>G	2.37:g.228883640T>C	ENSP00000375909:p.Asn644Asp		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	16.15	3.040872	0.55003	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.50277	0.75;0.75	5.54	1.7	0.24286	.	0.349225	0.35349	N	0.003271	T	0.46983	0.1421	L	0.59436	1.845	0.09310	N	0.999999	P;P	0.52061	0.651;0.95	B;P	0.48334	0.157;0.574	T	0.40590	-0.9555	10	0.62326	D	0.03	.	8.4113	0.32644	0.1223:0.0:0.2563:0.6214	.	644;644	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	D	644	ENSP00000375909:N644D;ENSP00000339886:N644D	ENSP00000339886:N644D	N	-	1	0	SPHKAP	228591884	0.960000	0.32886	0.009000	0.14445	0.908000	0.53690	2.557000	0.45871	0.100000	0.17581	0.533000	0.62120	AAC		0.478	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623	
SRSF11	9295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70694139	70694139	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:70694139T>G	ENST00000370950.3	+	3	320	c.238T>G	c.(238-240)Ttt>Gtt	p.F80V	SRSF11_ENST00000436161.2_Missense_Mutation_p.F80V|SRSF11_ENST00000405432.1_Missense_Mutation_p.F80V|SRSF11_ENST00000454435.2_Missense_Mutation_p.F80V|SRSF11_ENST00000370951.1_Missense_Mutation_p.F80V			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	80	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.F80V(1)		large_intestine(3)|ovary(2)|skin(1)	6						TCGTGTCTGCTTTGTTAAGTT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											204.0	174.0	184.0					1																	70694139		2203	4300	6503	SO:0001583	missense	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.238T>G	1.37:g.70694139T>G	ENSP00000359988:p.Phe80Val		Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.275530	0.80580	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000454435;ENST00000395136;ENST00000436161	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	5.34	5.34	0.76211	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.45196	0.1330	M	0.78637	2.42	0.80722	D	1	D;D;D;P;P;P	0.57257	0.979;0.979;0.975;0.896;0.896;0.77	P;P;P;P;P;P	0.60173	0.828;0.87;0.819;0.596;0.596;0.5	T	0.52711	-0.8539	10	0.87932	D	0	.	15.3203	0.74117	0.0:0.0:0.0:1.0	.	80;80;80;80;80;80	B4DTC1;B4DWT1;Q05BU6;Q6PJB9;Q8IWE6;Q05519	.;.;.;.;.;SRS11_HUMAN	V	80	ENSP00000359989:F80V;ENSP00000359988:F80V;ENSP00000384357:F80V;ENSP00000411159:F80V;ENSP00000378568:F80V;ENSP00000405120:F80V	ENSP00000359988:F80V	F	+	1	0	SRSF11	70466727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.040000	0.60383	0.460000	0.39030	TTT		0.383	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1		NM_004768	
STX2	2054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	131311785	131311785	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:131311785C>G	ENST00000392373.2	-	2	152	c.58G>C	c.(58-60)Gtt>Ctt	p.V20L	STX2_ENST00000261653.6_Missense_Mutation_p.V20L	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	20					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)	p.V20L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		ACCACAACAACTGTGTCTCCA	0.368																																																	2	Substitution - Missense(2)	kidney(2)											143.0	131.0	135.0					12																	131311785		2203	4300	6503	SO:0001583	missense	2054			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.58G>C	12.37:g.131311785C>G	ENSP00000376178:p.Val20Leu		Q86VW8	Missense_Mutation	SNP	ENST00000392373.2	37	CCDS9270.1	.	.	.	.	.	.	.	.	.	.	C	1.813	-0.474133	0.04414	.	.	ENSG00000111450	ENST00000261653;ENST00000392373	T;T	0.48201	0.82;1.23	4.49	-0.736	0.11133	.	2.035580	0.01766	N	0.030866	T	0.47911	0.1471	M	0.78637	2.42	0.09310	N	1	B;B;B	0.17268	0.015;0.015;0.021	B;B;B	0.14578	0.006;0.006;0.011	T	0.09207	-1.0685	10	0.29301	T	0.29	-14.5413	5.0437	0.14473	0.0:0.4081:0.1754:0.4165	.	20;20;20	P32856-3;P32856-2;P32856	.;.;STX2_HUMAN	L	20	ENSP00000261653:V20L;ENSP00000376178:V20L	ENSP00000261653:V20L	V	-	1	0	STX2	129877738	0.002000	0.14202	0.000000	0.03702	0.011000	0.07611	-0.022000	0.12480	-0.405000	0.07599	-0.468000	0.05107	GTT		0.368	STX2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399455.2		NM_194356	
SYTL5	94122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	37984722	37984722	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chrX:37984722C>A	ENST00000357972.5	+	16	2559	c.2013C>A	c.(2011-2013)aaC>aaA	p.N671K	SYTL5_ENST00000297875.2_Missense_Mutation_p.N671K|TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.N693K			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	671	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.N671K(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTTCCAGCAACATCTTTCTGG	0.488																																																	1	Substitution - Missense(1)	kidney(1)											120.0	108.0	112.0					X																	37984722		2202	4300	6502	SO:0001583	missense	94122				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.2013C>A	X.37:g.37984722C>A	ENSP00000350657:p.Asn671Lys		A2RRF2	Missense_Mutation	SNP	ENST00000357972.5	37	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.811868	0.70797	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	T;T;T	0.09350	2.99;2.99;2.99	5.66	2.93	0.34026	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	M	0.83223	2.63	0.52501	D	0.999959	D;D	0.89917	1.0;0.991	D;P	0.97110	1.0;0.874	T	0.02646	-1.1129	10	0.87932	D	0	-12.2668	5.8983	0.18951	0.0:0.5212:0.0:0.4788	.	693;671	A2RRF2;Q8TDW5	.;SYTL5_HUMAN	K	671;671;693	ENSP00000297875:N671K;ENSP00000350657:N671K;ENSP00000395220:N693K	ENSP00000297875:N671K	N	+	3	2	SYTL5	37869666	0.896000	0.30565	1.000000	0.80357	0.986000	0.74619	0.025000	0.13577	1.162000	0.42619	0.513000	0.50165	AAC		0.488	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1		NM_138780	
TBC1D3P2	440452	broad.mit.edu	37	17	60342432	60342432	+	RNA	SNP	T	T	C	rs62069085	byFrequency	TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr17:60342432T>C	ENST00000581291.1	-	0	1721									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						AGAGGCAAGGTCCTGAGGTGG	0.597																																																	0																																												440452					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342432T>C				RNA	SNP	ENST00000581291.1	37																																																																																					0.597	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1		NR_027486	
TSGA10	80705	broad.mit.edu;hgsc.bcm.edu	37	2	99725301	99725301	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:99725301C>T	ENST00000393483.3	-	7	1049	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	TSGA10_ENST00000542655.1_Missense_Mutation_p.E69K|TSGA10_ENST00000539964.1_Missense_Mutation_p.E69K|TSGA10_ENST00000410001.1_Missense_Mutation_p.E69K|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000355053.4_Missense_Mutation_p.E69K	NM_025244.2	NP_079520.1	Q9BZW7	TSG10_HUMAN	testis specific, 10	69					cell projection assembly (GO:0030031)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.E69K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						TTTACCTGTTCATAAAGAAGG	0.323																																																	1	Substitution - Missense(1)	kidney(1)											60.0	60.0	60.0					2																	99725301		2202	4299	6501	SO:0001583	missense	80705			AF254756	CCDS2037.1	2q11.2	2009-08-06			ENSG00000135951	ENSG00000135951			14927	protein-coding gene	gene with protein product	"""cancer/testis antigen 79"""	607166				11179690	Standard	NM_025244		Approved	CEP4L, CT79	uc002szi.4	Q9BZW7	OTTHUMG00000130637	ENST00000393483.3:c.205G>A	2.37:g.99725301C>T	ENSP00000377123:p.Glu69Lys		B7Z925|D3DVH7|Q8NEP0|Q9BWX0	Missense_Mutation	SNP	ENST00000393483.3	37	CCDS2037.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.239869	0.22711	.	.	ENSG00000135951	ENST00000393483;ENST00000410001;ENST00000355053;ENST00000539964;ENST00000409564;ENST00000393482;ENST00000542655	T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79	4.52	3.65	0.41850	.	0.106321	0.41605	D	0.000844	T	0.23766	0.0575	N	0.12746	0.255	0.26887	N	0.967412	B;B	0.33103	0.397;0.397	B;B	0.28991	0.097;0.097	T	0.12016	-1.0564	10	0.18276	T	0.48	-14.442	8.1143	0.30933	0.0:0.7477:0.1634:0.0889	.	69;69	B7Z925;Q9BZW7	.;TSG10_HUMAN	K	69	ENSP00000377123:E69K;ENSP00000386956:E69K;ENSP00000347161:E69K;ENSP00000444419:E69K;ENSP00000386508:E69K;ENSP00000377122:E69K;ENSP00000445623:E69K	ENSP00000347161:E69K	E	-	1	0	TSGA10	99091733	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	2.618000	0.46393	1.132000	0.42129	-0.324000	0.08512	GAA		0.323	TSGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253125.1		NM_182911	
TSPAN32	10077	hgsc.bcm.edu;ucsc.edu	37	11	2329985	2329985	+	Missense_Mutation	SNP	T	T	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:2329985T>A	ENST00000182290.4	+	4	436	c.299T>A	c.(298-300)cTg>cAg	p.L100Q	TSPAN32_ENST00000483227.1_Intron|TSPAN32_ENST00000381121.3_Missense_Mutation_p.L100Q|TSPAN32_ENST00000451520.2_Missense_Mutation_p.L89Q	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	100					cell-cell signaling (GO:0007267)|cytoskeleton organization (GO:0007010)|defense response to protozoan (GO:0042832)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid dendritic cell activation (GO:0030886)|platelet aggregation (GO:0070527)|regulation of defense response to virus (GO:0050688)	cell surface (GO:0009986)|integrin alphaIIb-beta3 complex (GO:0070442)|intracellular (GO:0005622)				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TGCTTCTCCCTGGCGTTCTGC	0.687																																																	0													41.0	37.0	38.0					11																	2329985		2190	4288	6478	SO:0001583	missense	10077			AF176070	CCDS7733.1	11p15	2013-02-14	2005-08-16	2005-08-16	ENSG00000064201	ENSG00000064201		"""Tetraspanins"""	13410	protein-coding gene	gene with protein product		603853	"""pan-hematopoietic expression"""	TSSC6, PHEMX		10072438, 10950922	Standard	NM_139022		Approved		uc001lvy.1	Q96QS1	OTTHUMG00000009762	ENST00000182290.4:c.299T>A	11.37:g.2329985T>A	ENSP00000182290:p.Leu100Gln		Q96KX4|Q9HC50|Q9HC51|Q9Y5U1	Missense_Mutation	SNP	ENST00000182290.4	37	CCDS7733.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.641570	0.47153	.	.	ENSG00000064201	ENST00000182290;ENST00000381121;ENST00000451520;ENST00000444307	D;D;D	0.82526	-1.62;-1.62;-1.62	2.74	2.74	0.32292	.	0.240568	0.21095	U	0.080251	D	0.87861	0.6284	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.76494	0.997;0.98;0.999;0.998	D;P;D;D	0.87578	0.959;0.788;0.998;0.959	D	0.87431	0.2388	10	0.87932	D	0	.	9.2466	0.37529	0.0:0.0:0.0:1.0	.	87;100;100;89	B4DQ90;Q96QS1-3;Q96QS1;F8WCN6	.;.;TSN32_HUMAN;.	Q	100;100;89;70	ENSP00000182290:L100Q;ENSP00000370513:L100Q;ENSP00000405205:L89Q	ENSP00000182290:L100Q	L	+	2	0	TSPAN32	2286561	0.984000	0.35163	0.097000	0.21041	0.109000	0.19521	3.262000	0.51538	1.222000	0.43521	0.397000	0.26171	CTG		0.687	TSPAN32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026912.2		NM_139024	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179582267	179582267	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:179582267G>A	ENST00000591111.1	-	85	24607	c.24383C>T	c.(24382-24384)gCc>gTc	p.A8128V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.A8445V|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A7201V			Q8WZ42	TITIN_HUMAN	titin	12315	Ig-like 63.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A7201V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGAGCTTGGCACTGGATGA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											70.0	72.0	71.0					2																	179582267		1909	4124	6033	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24383C>T	2.37:g.179582267G>A	ENSP00000465570:p.Ala8128Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	11.66	1.704926	0.30232	.	.	ENSG00000155657	ENST00000342992	T	0.68479	-0.33	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79678	0.4487	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	P	0.62382	0.901	T	0.81722	-0.0803	9	0.87932	D	0	.	15.2885	0.73849	0.0:0.1396:0.8604:0.0	.	8128	Q8WZ42	TITIN_HUMAN	V	7201	ENSP00000343764:A7201V	ENSP00000343764:A7201V	A	-	2	0	TTN	179290512	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.188000	0.65093	2.738000	0.93877	0.655000	0.94253	GCC		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UGT1A7	54577	broad.mit.edu	37	2	234591037	234591037	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:234591037G>A	ENST00000373426.3	+	1	454	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	152					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.A152T(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	TCCTTTTGATGCCTGTGGCTT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											157.0	159.0	158.0					2																	234591037		2203	4300	6503	SO:0001583	missense	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.454G>A	2.37:g.234591037G>A	ENSP00000362525:p.Ala152Thr		B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.816|6.816	0.519614|0.519614	0.13005|0.13005	.|.	.|.	ENSG00000244122|ENSG00000244122	ENST00000373426|ENST00000485022	T|.	0.58358|.	0.34|.	4.34|4.34	-6.79|-6.79	0.01715|0.01715	.|.	.|.	.|.	.|.	.|.	T|T	0.14874|0.14874	0.0359|0.0359	N|N	0.11756|0.11756	0.17|0.17	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.08055|.	0.003;0.003|.	T|T	0.26018|0.26018	-1.0115|-1.0115	9|5	0.56958|.	D|.	0.05|.	.|.	5.7727|5.7727	0.18261|0.18261	0.1368:0.4899:0.285:0.0884|0.1368:0.4899:0.285:0.0884	.|.	152;152|.	Q5DSZ7;Q9HAW7|.	.;UD17_HUMAN|.	T|I	152|8	ENSP00000362525:A152T|.	ENSP00000362525:A152T|.	A|M	+|+	1|3	0|0	UGT1A7|UGT1A7	234255776|234255776	0.000000|0.000000	0.05858|0.05858	0.087000|0.087000	0.20705|0.20705	0.045000|0.045000	0.14185|0.14185	-0.307000|-0.307000	0.08167|0.08167	-1.486000|-1.486000	0.01851|0.01851	-0.339000|-0.339000	0.08088|0.08088	GCC|ATG		0.408	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1		NM_019077	
UGT1A7	54577	broad.mit.edu;hgsc.bcm.edu	37	2	234591142	234591142	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:234591142C>G	ENST00000373426.3	+	1	559	c.559C>G	c.(559-561)Ctt>Gtt	p.L187V	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	187					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)	p.L187V(1)		NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	CCCTGCTCCTCTTTCCTATGT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											160.0	168.0	165.0					2																	234591142		2203	4300	6503	SO:0001583	missense	54577			U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.559C>G	2.37:g.234591142C>G	ENSP00000362525:p.Leu187Val		B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	CCDS2506.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522462	0.27211	.	.	ENSG00000244122	ENST00000373426	T	0.06933	3.24	4.34	2.5	0.30297	.	.	.	.	.	T	0.06872	0.0175	N	0.25201	0.72	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.24269	0.052;0.052	T	0.37731	-0.9693	9	0.35671	T	0.21	.	10.8442	0.46733	0.1472:0.7113:0.1416:0.0	.	187;187	Q5DSZ7;Q9HAW7	.;UD17_HUMAN	V	187	ENSP00000362525:L187V	ENSP00000362525:L187V	L	+	1	0	UGT1A7	234255881	0.000000	0.05858	0.001000	0.08648	0.461000	0.32589	0.020000	0.13466	0.444000	0.26612	0.491000	0.48974	CTT		0.468	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1		NM_019077	
SMG1P7	100506060	broad.mit.edu	37	16	70268080	70268081	+	RNA	DNP	TG	TG	CA			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr16:70268080_70268081TG>CA	ENST00000459379.1	-	0	0																											GTCTTACTGTTGGCTAAAAGGC	0.376																																																	0																																												0																														Exception_encountered	16.37:g.70268080_70268081delinsCA				RNA	SNP	ENST00000459379.1	37																																																																																					0.376	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
URB2	9816	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	229773365	229773365	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:229773365G>A	ENST00000258243.2	+	4	3141	c.3005G>A	c.(3004-3006)gGg>gAg	p.G1002E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1002						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.G1002E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAAGTGATAGGGACGTTCTTA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											97.0	93.0	94.0					1																	229773365		2203	4300	6503	SO:0001583	missense	9816			D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3005G>A	1.37:g.229773365G>A	ENSP00000258243:p.Gly1002Glu		Q5VYC9	Missense_Mutation	SNP	ENST00000258243.2	37	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.479153	0.26511	.	.	ENSG00000135763	ENST00000258243	T	0.28895	1.59	5.54	3.27	0.37495	.	0.393156	0.28618	N	0.014705	T	0.17109	0.0411	L	0.29908	0.895	0.22185	N	0.999308	B	0.18461	0.028	B	0.15870	0.014	T	0.11494	-1.0585	9	.	.	.	-23.7442	3.4677	0.07555	0.3555:0.1934:0.4511:0.0	.	1002	Q14146	URB2_HUMAN	E	1002	ENSP00000258243:G1002E	.	G	+	2	0	URB2	227839988	0.844000	0.29557	0.038000	0.18304	0.199000	0.23934	1.615000	0.36922	1.236000	0.43740	0.585000	0.79938	GGG		0.433	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777	
VHL	7428	hgsc.bcm.edu	37	3	10183646	10183646	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3451-01A-02W-1244-10	TCGA-AK-3451-10A-01W-1244-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	5a465db8-051b-4d67-960b-5adc49b55fd9	a3aaf8f7-1dee-45f5-81da-6fceecc116c8	g.chr3:10183646G>A	ENST00000256474.2	+	1	955	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.G39S	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	39	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.G39S(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGAGGAGTCCGGCCCGGAAGA	0.736		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	2	Substitution - Missense(2)	kidney(2)											6.0	9.0	8.0					3																	10183646		1998	3901	5899	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.115G>A	3.37:g.10183646G>A	ENSP00000256474:p.Gly39Ser		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827744	0.50845	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.85773	-2.03;-2.03	3.71	-0.384	0.12474	.	0.363857	0.24742	N	0.035963	T	0.66470	0.2792	N	0.19112	0.55	0.09310	N	1	B;B	0.20780	0.048;0.013	B;B	0.11329	0.006;0.002	T	0.51244	-0.8730	10	0.35671	T	0.21	-1.8965	1.3303	0.02133	0.2144:0.3545:0.274:0.1571	.	39;39	P40337-2;P40337	.;VHL_HUMAN	S	39	ENSP00000256474:G39S;ENSP00000344757:G39S	ENSP00000256474:G39S	G	+	1	0	VHL	10158646	0.001000	0.12720	0.000000	0.03702	0.046000	0.14306	0.486000	0.22340	-0.085000	0.12573	0.555000	0.69702	GGC		0.736	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VHL	7428	hgsc.bcm.edu	37	3	10183735	10183735	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AK-3451-01A-02W-1244-10	TCGA-AK-3451-10A-01W-1244-10	G	G	G	-	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	5a465db8-051b-4d67-960b-5adc49b55fd9	a3aaf8f7-1dee-45f5-81da-6fceecc116c8	g.chr3:10183735delG	ENST00000256474.2	+	1	1044	c.204delG	c.(202-204)tcgfs	p.S68fs	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Frame_Shift_Del_p.S68fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	68			Missing (in VHLD; type I).|S -> W (in pheochromocytoma and VHLD; type II). {ECO:0000269|PubMed:10627136, ECO:0000269|PubMed:12000816}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N67fs*59(1)|p.R69fs*90(1)|p.A56_R69>G(1)|p.R60fs*35(1)|p.N67_V74del(1)|p.S68*(1)|p.N67fs*63(1)|p.P61fs*61(1)|p.S68S(1)|p.R69fs*63(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CGGTGAACTCGCGCGAGCCCT	0.716		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	10	Deletion - Frameshift(4)|Deletion - In frame(1)|Insertion - Frameshift(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Complex - deletion inframe(1)|Substitution - coding silent(1)	kidney(10)	GRCh37	CI042660	VHL	I							8.0	11.0	10.0					3																	10183735		2148	4210	6358	SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.204delG	3.37:g.10183735delG	ENSP00000256474:p.Ser68fs		B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.716	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	167760143	167760143	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr2:167760143G>T	ENST00000409728.1	+	2	240	c.151G>T	c.(151-153)Gta>Tta	p.V51L	XIRP2_ENST00000409756.2_Missense_Mutation_p.V51L|XIRP2_ENST00000295237.9_Missense_Mutation_p.V51L|XIRP2_ENST00000420519.1_Missense_Mutation_p.V51L|XIRP2_ENST00000409043.1_Missense_Mutation_p.V51L|XIRP2_ENST00000409195.1_Missense_Mutation_p.V51L	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.V51L(2)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGAGAGGTAGTATCAGCACC	0.483																																																	2	Substitution - Missense(2)	kidney(2)											75.0	74.0	75.0					2																	167760143		1952	4136	6088	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.151G>T	2.37:g.167760143G>T	ENSP00000386619:p.Val51Leu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818322	0.32145	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	T;T;T;T;T;T	0.77750	-1.1;-1.12;4.24;-1.1;-1.12;4.24	5.15	-1.48	0.08745	.	.	.	.	.	T	0.56140	0.1965	.	.	.	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.34153	-0.9840	8	0.28530	T	0.3	.	1.3413	0.02155	0.3088:0.3431:0.2164:0.1317	.	51;51	A4UGR9-4;A4UGR9-6	.;.	L	51	ENSP00000386454:V51L;ENSP00000386619:V51L;ENSP00000386840:V51L;ENSP00000386724:V51L;ENSP00000415541:V51L;ENSP00000295237:V51L	ENSP00000295237:V51L	V	+	1	0	XIRP2	167468389	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.113000	0.10774	-0.385000	0.07833	-0.182000	0.12963	GTA		0.483	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1		NM_152381	
ZDHHC5	25921	broad.mit.edu;ucsc.edu	37	11	57440598	57440598	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr11:57440598C>A	ENST00000287169.3	+	2	1398	c.36C>A	c.(34-36)agC>agA	p.S12R	ZDHHC5_ENST00000527985.1_Intron	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	12					protein palmitoylation (GO:0018345)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S12R(1)		endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCAAACCCAGCAAGTATGTCC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											133.0	119.0	123.0					11																	57440598		2201	4296	6497	SO:0001583	missense	25921			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599		"""Zinc fingers, DHHC-type"""	18472	protein-coding gene	gene with protein product		614586				11214970	Standard	NM_015457		Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.36C>A	11.37:g.57440598C>A	ENSP00000287169:p.Ser12Arg		Q2TGF0|Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	Missense_Mutation	SNP	ENST00000287169.3	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196647	0.79015	.	.	ENSG00000156599	ENST00000287169	T	0.37235	1.21	6.03	6.03	0.97812	.	0.181959	0.56097	D	0.000033	T	0.61123	0.2322	M	0.69823	2.125	0.80722	D	1	D	0.63880	0.993	D	0.64506	0.926	T	0.60136	-0.7322	10	0.66056	D	0.02	-18.4686	20.1703	0.98158	0.0:1.0:0.0:0.0	.	12	Q9C0B5	ZDHC5_HUMAN	R	12	ENSP00000287169:S12R	ENSP00000287169:S12R	S	+	3	2	ZDHHC5	57197174	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.596000	0.67570	2.868000	0.98415	0.557000	0.71058	AGC		0.562	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393694.1		NM_015457	
ZMYM1	79830	broad.mit.edu;hgsc.bcm.edu	37	1	35578967	35578967	+	Silent	SNP	G	G	A			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr1:35578967G>A	ENST00000373330.1	+	11	1710	c.1536G>A	c.(1534-1536)aaG>aaA	p.K512K	ZMYM1_ENST00000359858.4_Silent_p.K512K|ZMYM1_ENST00000373329.1_3'UTR			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	512						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K512N(1)|p.K512K(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AATTCAGAAAGCATGAAAAAA	0.363																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											85.0	86.0	86.0					1																	35578967		1801	4076	5877	SO:0001819	synonymous_variant	79830			AK096206	CCDS41302.1	1p34.3	2008-05-02	2005-09-12		ENSG00000197056	ENSG00000197056		"""Zinc fingers, MYM type"""	26253	protein-coding gene	gene with protein product			"""zinc finger, MYM domain containing 1"""			12477932	Standard	XM_005271216		Approved	FLJ23151, MYM	uc001bym.3	Q5SVZ6	OTTHUMG00000004374	ENST00000373330.1:c.1536G>A	1.37:g.35578967G>A			D3DPR7|Q7Z3Q4	Silent	SNP	ENST00000373330.1	37	CCDS41302.1																																																																																				0.363	ZMYM1-001	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012705.1		NM_024772	
ZNF224	7767	broad.mit.edu;hgsc.bcm.edu	37	19	44610924	44610924	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:44610924A>G	ENST00000336976.6	+	6	865	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	204					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nuclear membrane (GO:0031965)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y204C(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAGAAATGCTATAAGTGTGAC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											140.0	138.0	138.0					19																	44610924		2203	4300	6503	SO:0001583	missense	7767			AF187990	CCDS33046.1	19q13.2	2013-01-08	2004-02-13			ENSG00000267680		"""Zinc fingers, C2H2-type"", ""-"""	13017	protein-coding gene	gene with protein product		194555	"""zinc finger protein 255"", ""zinc finger protein 27"""	ZNF255, ZNF27			Standard	NM_013398		Approved	BMZF-2, KOX22	uc002oyh.2	Q9NZL3		ENST00000336976.6:c.611A>G	19.37:g.44610924A>G	ENSP00000337368:p.Tyr204Cys		A6NFW9|P17033|Q86V10|Q8IZC8|Q9UID9|Q9Y2P6	Missense_Mutation	SNP	ENST00000336976.6	37	CCDS33046.1	.	.	.	.	.	.	.	.	.	.	a	9.280	1.047843	0.19827	.	.	ENSG00000186019	ENST00000336976	T	0.25414	1.8	3.44	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27205	0.0667	M	0.78344	2.41	0.09310	N	1	B	0.18013	0.025	B	0.19946	0.027	T	0.40646	-0.9552	9	0.87932	D	0	.	2.6092	0.04886	0.5011:0.0:0.1464:0.3524	.	204	Q9NZL3	ZN224_HUMAN	C	204	ENSP00000337368:Y204C	ENSP00000337368:Y204C	Y	+	2	0	ZNF224	49302764	0.000000	0.05858	0.001000	0.08648	0.221000	0.24807	-0.453000	0.06778	0.478000	0.27488	0.482000	0.46254	TAT		0.433	ZNF224-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460477.1		NM_013398	
ZNF235	9310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44792129	44792129	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr19:44792129A>T	ENST00000291182.4	-	5	1561	c.1459T>A	c.(1459-1461)Tat>Aat	p.Y487N	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y487N(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TCACATTTATATGGTTTTTCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											126.0	122.0	123.0					19																	44792129		2203	4300	6503	SO:0001583	missense	9310			X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1459T>A	19.37:g.44792129A>T	ENSP00000291182:p.Tyr487Asn		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	CCDS33048.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.903938	0.52333	.	.	ENSG00000159917	ENST00000391957;ENST00000291182;ENST00000359844	T	0.25749	1.78	5.04	5.04	0.67666	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38492	N	0.001662	T	0.56031	0.1958	M	0.87547	2.89	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56257	-0.8009	10	0.87932	D	0	.	14.0388	0.64663	1.0:0.0:0.0:0.0	.	483;487	Q14590-2;Q14590	.;ZN235_HUMAN	N	487;487;379	ENSP00000291182:Y487N	ENSP00000291182:Y487N	Y	-	1	0	ZNF235	49483969	0.010000	0.17322	0.051000	0.19133	0.968000	0.65278	2.607000	0.46300	2.023000	0.59567	0.379000	0.24179	TAT		0.413	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			
ZNF641	121274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	48737147	48737147	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3451-01A-02D-1251-10	TCGA-AK-3451-10A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	5e77e3d0-35a7-4555-a0b4-236630d71f61	f9333599-d814-44d9-a58f-9c6fb78b15d1	g.chr12:48737147C>T	ENST00000544117.2	-	6	1634	c.926G>A	c.(925-927)aGg>aAg	p.R309K	ZNF641_ENST00000301042.3_Missense_Mutation_p.R309K|ZNF641_ENST00000547026.1_Missense_Mutation_p.R295K|ZNF641_ENST00000448928.3_Missense_Mutation_p.R286K			Q96N77	ZN641_HUMAN	zinc finger protein 641	309					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R309K(1)		breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTTCTGGTGCCTGATGAGGTG	0.537																																																	1	Substitution - Missense(1)	kidney(1)											180.0	162.0	168.0					12																	48737147		2203	4300	6503	SO:0001583	missense	121274			BC018090	CCDS8763.1, CCDS53787.1, CCDS53788.1	12q13.11	2013-01-08				ENSG00000167528		"""Zinc fingers, C2H2-type"", ""-"""	31834	protein-coding gene	gene with protein product		613906					Standard	NM_152320		Approved	FLJ31295	uc001rro.2	Q96N77		ENST00000544117.2:c.926G>A	12.37:g.48737147C>T	ENSP00000437832:p.Arg309Lys		B3KS43|B4DNU5|Q8TCQ7|Q8WVE1	Missense_Mutation	SNP	ENST00000544117.2	37	CCDS8763.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612667	0.46631	.	.	ENSG00000167528	ENST00000301042;ENST00000544117;ENST00000448928;ENST00000547026	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.19127	0.0459	L	0.48642	1.525	0.09310	N	1	D;P	0.59357	0.985;0.826	P;B	0.47044	0.535;0.34	T	0.19128	-1.0315	10	0.16896	T	0.51	.	12.5573	0.56261	0.1662:0.8338:0.0:0.0	.	286;309	B4DNU5;Q96N77	.;ZN641_HUMAN	K	309;309;286;295	ENSP00000301042:R309K;ENSP00000437832:R309K;ENSP00000394627:R286K;ENSP00000449974:R295K	ENSP00000301042:R309K	R	-	2	0	ZNF641	47023414	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-1.888000	0.01616	2.837000	0.97791	0.655000	0.94253	AGG		0.537	ZNF641-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000406518.1		NM_152320	
