#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
PTGES3L	100885848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41122331	41122331	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr17:41122331G>T	ENST00000453594.1	-	5	782	c.437C>A	c.(436-438)cCt>cAt	p.P146H	PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.P179H|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.P179H|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.P88H|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.P118H|PTGES3L_ENST00000409446.3_Missense_Mutation_p.P141H	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	146	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.							p.P118H(1)									GGCAGGTGGAGGTCTCTTGGT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											251.0	255.0	253.0					17																	41122331		2203	4300	6503	SO:0001583	missense	80755				CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.437C>A	17.37:g.41122331G>T	ENSP00000394415:p.Pro146His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000453594.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.01|16.01	3.000056|3.000056	0.54147|0.54147	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000424284|ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000453594;ENST00000409446	.|T;T;T;T	.|0.71579	.|-0.58;-0.58;-0.58;-0.58	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.398008	.|0.26279	.|N	.|0.025300	T|T	0.70491|0.70491	0.3230|0.3230	L|L	0.29908|0.29908	0.895|0.895	.|.	.|.	.|.	.|P;D;P;P;P	.|0.64830	.|0.947;0.994;0.773;0.773;0.602	.|P;P;P;P;P	.|0.58873	.|0.628;0.847;0.65;0.65;0.65	T|T	0.76152|0.76152	-0.3064|-0.3064	4|9	.|0.44086	.|T	.|0.13	-6.4698|-6.4698	10.868|10.868	0.46866|0.46866	0.0:0.1483:0.716:0.1356|0.0:0.1483:0.716:0.1356	.|.	.|146;141;179;88;136	.|E9PB15;B9A003;B4DI73;C9J5N1;B3KSP9	.|.;.;.;.;.	I|H	108|118;179;179;88;118;146;141	.|ENSP00000353355:P118H;ENSP00000386621:P179H;ENSP00000409924:P179H;ENSP00000386254:P88H	.|ENSP00000353355:P118H	L|P	-|-	1|2	0|0	AARSD1|AARSD1	38375857|38375857	0.983000|0.983000	0.35010|0.35010	0.713000|0.713000	0.30519|0.30519	0.985000|0.985000	0.73830|0.73830	3.766000|3.766000	0.55280|0.55280	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.448	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_001142653	
ABCC1	4363	broad.mit.edu;ucsc.edu	37	16	16225792	16225795	+	Splice_Site	DEL	GGTG	GGTG	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	GGTG	GGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:16225792_16225795delGGTG	ENST00000399410.3	+	27	4141	c.3966delGGTG	c.(3964-3966)aag>aa	p.K1322fs	ABCC1_ENST00000349029.5_Splice_Site_p.K1207fs|ABCC1_ENST00000346370.5_Splice_Site_p.K1266fs|ABCC1_ENST00000345148.5_Splice_Site_p.K1322fs|ABCC1_ENST00000399408.2_Splice_Site_p.K1332fs|ABCC1_ENST00000351154.5_Splice_Site_p.K1263fs	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1322	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGGGAGAAAAGGTGGGTACACATC	0.598																																																	0																																										SO:0001630	splice_region_variant	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3966+1GGTG>-	16.37:g.16225792_16225795delGGTG		Somatic		WXS	Illumina GAIIx	Phase_I	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Splice_Site	DEL	ENST00000399410.3	37	CCDS42122.1																																																																																				0.598	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1		NM_004996	Frame_Shift_Del
IGHV4-28	28400	broad.mit.edu;ucsc.edu	37	14	106780513	106780513	+	RNA	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr14:106780513T>C	ENST00000390612.2	-	0	422									immunoglobulin heavy variable 4-28																		TCACTGTGTTTCTCGCACAGT	0.617																																																	0													150.0	140.0	143.0					14																	106780513		1953	4149	6102			8755			X05714		14q32.33	2012-02-08			ENSG00000211952	ENSG00000211952		"""Immunoglobulins / IGH locus"""	5645	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152062		14.37:g.106780513T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000390612.2	37																																																																																					0.617	IGHV4-28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325156.1		NG_001019	
AMDHD1	144193	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	96360253	96360253	+	Missense_Mutation	SNP	A	A	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:96360253A>G	ENST00000266736.2	+	8	1266	c.1160A>G	c.(1159-1161)aAa>aGa	p.K387R		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	387					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	imidazolonepropionase activity (GO:0050480)|metal ion binding (GO:0046872)	p.K387R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GAAGTTGGCAAACAGGGAGAT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											242.0	221.0	228.0					12																	96360253		2203	4300	6503	SO:0001583	missense	144193			AB075878	CCDS9057.1	12q23.1	2006-02-02				ENSG00000139344			28577	protein-coding gene	gene with protein product							Standard	NM_152435		Approved	MGC35366	uc001tel.2	Q96NU7	OTTHUMG00000170353	ENST00000266736.2:c.1160A>G	12.37:g.96360253A>G	ENSP00000266736:p.Lys387Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K463|Q68CI8	Missense_Mutation	SNP	ENST00000266736.2	37	CCDS9057.1	.	.	.	.	.	.	.	.	.	.	A	31	5.080010	0.94050	.	.	ENSG00000139344	ENST00000266736	D	0.82167	-1.58	5.82	5.82	0.92795	Amidohydrolase 3 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.88321	0.6405	M	0.67625	2.065	0.80722	D	1	D	0.58620	0.983	P	0.58013	0.831	D	0.87946	0.2720	10	0.42905	T	0.14	-5.6723	16.1778	0.81874	1.0:0.0:0.0:0.0	.	387	Q96NU7	HUTI_HUMAN	R	387	ENSP00000266736:K387R	ENSP00000266736:K387R	K	+	2	0	AMDHD1	94884384	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	8.962000	0.93254	2.225000	0.72522	0.459000	0.35465	AAA		0.473	AMDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408640.1		NM_152435	
ANK3	288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	61833421	61833421	+	Silent	SNP	A	A	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr10:61833421A>G	ENST00000280772.2	-	37	7409	c.7218T>C	c.(7216-7218)taT>taC	p.Y2406Y	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2406					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Y2406Y(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGACTCCAGATAAGAAGGCA	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	64.0	64.0					10																	61833421		2203	4300	6503	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7218T>C	10.37:g.61833421A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4		NM_020987	
ANKLE2	23141	hgsc.bcm.edu;ucsc.edu	37	12	133324430	133324432	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:133324430_133324432delGGT	ENST00000357997.5	-	5	1305_1307	c.1216_1218delACC	c.(1216-1218)accdel	p.T406del	ANKLE2_ENST00000337516.5_In_Frame_Del_p.T406del|ANKLE2_ENST00000539605.1_In_Frame_Del_p.T344del	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	406					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTTGTCGGGGGTGTTGAGGTAC	0.493																																																	0																																										SO:0001651	inframe_deletion	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1216_1218delACC	12.37:g.133324430_133324432delGGT	ENSP00000350686:p.Thr406del	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	In_Frame_Del	DEL	ENST00000357997.5	37	CCDS41869.1																																																																																				0.493	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			
ANXA2	302	broad.mit.edu;hgsc.bcm.edu	37	15	60641324	60641324	+	Silent	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr15:60641324T>G	ENST00000396024.3	-	13	1069	c.910A>C	c.(910-912)Agg>Cgg	p.R304R	ANXA2_ENST00000451270.2_Silent_p.R304R|ANXA2_ENST00000332680.4_Silent_p.R322R|ANXA2_ENST00000421017.2_Silent_p.R304R	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	304					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)	p.R322R(1)		kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	AATTCAGACCTAATTTTCAAC	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	71.0	74.0					15																	60641324		2203	4298	6501	SO:0001819	synonymous_variant	302			D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.910A>C	15.37:g.60641324T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Silent	SNP	ENST00000396024.3	37	CCDS10175.1																																																																																				0.493	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1		NM_001002857	
ARID1A	8289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27106271	27106271	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:27106271G>A	ENST00000324856.7	+	20	6253	c.5882G>A	c.(5881-5883)aGt>aAt	p.S1961N	ARID1A_ENST00000457599.2_Missense_Mutation_p.S1744N|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1578N|ARID1A_ENST00000540690.1_Missense_Mutation_p.S289N	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1961					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.S1961N(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAACCCCACAGTAAGGATGAG	0.522			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Missense(1)	kidney(1)											169.0	140.0	150.0					1																	27106271		2203	4300	6503	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5882G>A	1.37:g.27106271G>A	ENSP00000320485:p.Ser1961Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536160	0.85812	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.10960	4.33;4.18;4.15;2.82	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.34221	0.0890	M	0.69823	2.125	0.54753	D	0.999985	D;D;D	0.76494	0.999;0.993;0.996	D;D;D	0.80764	0.994;0.919;0.963	T	0.02075	-1.1218	10	0.56958	D	0.05	-6.5956	18.8866	0.92381	0.0:0.0:1.0:0.0	.	1578;1961;1744	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	N	1961;1744;1578;289	ENSP00000320485:S1961N;ENSP00000387636:S1744N;ENSP00000363267:S1578N;ENSP00000442437:S289N	ENSP00000320485:S1961N	S	+	2	0	ARID1A	26978858	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.422000	0.97458	2.769000	0.95229	0.491000	0.48974	AGT		0.522	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135	
ASH1L	55870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155385552	155385552	+	Silent	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:155385552G>A	ENST00000368346.3	-	6	6630	c.5991C>T	c.(5989-5991)gaC>gaT	p.D1997D	snoU13_ENST00000458873.1_RNA|ASH1L_ENST00000392403.3_Silent_p.D1997D			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1997					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.D1997D(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTTGTAAACGTCAGAATACA	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											191.0	209.0	203.0					1																	155385552		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5991C>T	1.37:g.155385552G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.398	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489	
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14613931	14613931	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:14613931delT	ENST00000540793.1	+	8	2816	c.2661delT	c.(2659-2661)actfs	p.T887fs	ATF7IP_ENST00000536444.1_Frame_Shift_Del_p.T886fs|ATF7IP_ENST00000543189.1_Frame_Shift_Del_p.T886fs|ATF7IP_ENST00000544627.1_Frame_Shift_Del_p.T895fs|ATF7IP_ENST00000261168.4_Frame_Shift_Del_p.T887fs|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	887					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CCACAAGGACTTCTTTACCCA	0.458																																																	0													54.0	52.0	53.0					12																	14613931		2203	4300	6503	SO:0001589	frameshift_variant	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2661delT	12.37:g.14613931delT	ENSP00000444589:p.Thr887fs	Somatic		WXS	Illumina HiSeq	Phase_I	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Frame_Shift_Del	DEL	ENST00000540793.1	37	CCDS8663.1																																																																																				0.458	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179	
FAM205B	389715	broad.mit.edu	37	9	34835451	34835451	+	RNA	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:34835451T>G	ENST00000455647.2	-	0	942							Q63HN1	F205B_HUMAN	family with sequence similarity 205, member B									p.H13P(2)									AAATGGCAGGTGGGCAGGGAG	0.537																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)																																										0					9p13.3	2013-05-22	2011-08-15	2011-08-15	ENSG00000257198	ENSG00000257198			24504	other	unknown			"""chromosome 9 open reading frame 144"""	C9orf144			Standard	NR_024481		Approved	DKFZp434J193, C9orf144A	uc003zvp.4	Q63HN1	OTTHUMG00000019839		9.37:g.34835451T>G		Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZRJ7	Missense_Mutation	SNP	ENST00000455647.2	37		.	.	.	.	.	.	.	.	.	.	T	12.54	1.968552	0.34754	.	.	ENSG00000257198	ENST00000455647	.	.	.	4.19	1.84	0.25277	.	1.422500	0.04821	N	0.436980	T	0.27205	0.0667	.	.	.	0.09310	N	1	B	0.16802	0.019	B	0.18561	0.022	T	0.20773	-1.0265	8	0.30078	T	0.28	.	3.7939	0.08732	0.0:0.118:0.2391:0.6429	.	13	Q63HN1	F205B_HUMAN	P	13	.	ENSP00000398718:H13P	H	-	2	0	AL589645.1	34825451	0.013000	0.17824	0.155000	0.22561	0.226000	0.24999	1.149000	0.31626	0.756000	0.33013	0.459000	0.35465	CAC		0.537	FAM205B-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052246.5		NR_024481	
CCDC30	728621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43055004	43055004	+	Silent	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:43055004T>C	ENST00000340612.4	+	8	1233	c.1233T>C	c.(1231-1233)taT>taC	p.Y411Y	CCDC30_ENST00000428554.2_Silent_p.Y411Y|CCDC30_ENST00000507855.1_Silent_p.Y200Y|CCDC30_ENST00000390640.4_Silent_p.Y200Y|CCDC30_ENST00000342022.4_Silent_p.Y411Y			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	411						extracellular vesicular exosome (GO:0070062)		p.Y411Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AACTTCTATATCAGAACGTAG	0.353																																																	1	Substitution - coding silent(1)	kidney(1)											74.0	73.0	73.0					1																	43055004		2203	4300	6503	SO:0001819	synonymous_variant	728621			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1233T>C	1.37:g.43055004T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q14F06|Q5VVM5	Silent	SNP	ENST00000340612.4	37	CCDS30690.1																																																																																				0.353	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3		NM_025030	
CCDC30	728621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43111913	43111913	+	Missense_Mutation	SNP	C	C	A	rs367817958		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:43111913C>A	ENST00000340612.4	+	13	1998	c.1998C>A	c.(1996-1998)agC>agA	p.S666R	CCDC30_ENST00000428554.2_Missense_Mutation_p.S666R|CCDC30_ENST00000507855.1_Missense_Mutation_p.S455R|CCDC30_ENST00000390640.4_Missense_Mutation_p.S455R|CCDC30_ENST00000342022.4_Missense_Mutation_p.S666R			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	666						extracellular vesicular exosome (GO:0070062)		p.S666R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						tcttcaccagcaacaatgcag	0.478																																																	1	Substitution - Missense(1)	kidney(1)											46.0	39.0	42.0					1																	43111913		2132	4177	6309	SO:0001583	missense	728621			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.1998C>A	1.37:g.43111913C>A	ENSP00000340378:p.Ser666Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q14F06|Q5VVM5	Missense_Mutation	SNP	ENST00000340612.4	37	CCDS30690.1	.	.	.	.	.	.	.	.	.	.	C	0.106	-1.144772	0.01714	.	.	ENSG00000186409	ENST00000428554;ENST00000507855;ENST00000340612;ENST00000342022;ENST00000390640	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	0.427	0.427	0.16489	.	.	.	.	.	T	0.24084	0.0583	N	0.22421	0.69	0.09310	N	1	B;B	0.18461	0.005;0.028	B;B	0.10450	0.003;0.005	T	0.23084	-1.0198	8	0.19147	T	0.46	.	.	.	.	.	666;455	Q5VVM6;Q5VVM6-2	CCD30_HUMAN;.	R	666;455;666;666;455	ENSP00000397035:S666R;ENSP00000426711:S455R;ENSP00000340378:S666R;ENSP00000339280:S666R;ENSP00000375051:S455R	ENSP00000340378:S666R	S	+	3	2	CCDC30	42884500	0.009000	0.17119	0.007000	0.13788	0.007000	0.05969	0.543000	0.23237	0.458000	0.26988	0.467000	0.42956	AGC		0.478	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3		NM_025030	
CDH18	1016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	19838883	19838883	+	Silent	SNP	A	A	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:19838883A>T	ENST00000507958.1	-	5	1203	c.213T>A	c.(211-213)ccT>ccA	p.P71P	CDH18_ENST00000274170.4_Silent_p.P71P|CDH18_ENST00000502796.1_Silent_p.P71P|CDH18_ENST00000511273.1_Silent_p.P71P|CDH18_ENST00000382275.1_Silent_p.P71P|CDH18_ENST00000506372.1_Silent_p.P71P			Q13634	CAD18_HUMAN	cadherin 18, type 2	71	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P71P(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CAACATACTGAGGATCTGGTC	0.388																																																	2	Substitution - coding silent(2)	kidney(2)											113.0	100.0	104.0					5																	19838883		2203	4300	6503	SO:0001819	synonymous_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.213T>A	5.37:g.19838883A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.388	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1		NM_004934	
CCNJL	79616	broad.mit.edu	37	5	159680605	159680605	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:159680605G>T	ENST00000393977.3	-	7	1373	c.1088C>A	c.(1087-1089)gCc>gAc	p.A363D	CCNJL_ENST00000257536.7_Missense_Mutation_p.A315D|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	363						nucleus (GO:0005634)		p.A363D(2)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGGTGGGCCTGCAAGGA	0.667																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)											53.0	60.0	57.0					5																	159680605		2044	4187	6231	SO:0001583	missense	79616			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1088C>A	5.37:g.159680605G>T	ENSP00000377547:p.Ala363Asp	Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	G	8.828	0.939150	0.18281	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.31769	1.89;1.48	5.0	4.13	0.48395	.	0.792845	0.11837	N	0.524672	T	0.26991	0.0661	L	0.47716	1.5	0.80722	D	1	P;P	0.39216	0.664;0.498	B;B	0.36335	0.157;0.222	T	0.01863	-1.1258	10	0.24483	T	0.36	-12.6043	11.4363	0.50070	0.0854:0.0:0.9146:0.0	.	315;363	B4DZA8;Q8IV13	.;CCNJL_HUMAN	D	363;315	ENSP00000377547:A363D;ENSP00000257536:A315D	ENSP00000257536:A315D	A	-	2	0	CCNJL	159613183	0.995000	0.38212	0.944000	0.38274	0.174000	0.22865	2.476000	0.45171	1.099000	0.41499	0.655000	0.94253	GCC		0.667	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1		NM_024565	
CDK10	8558	hgsc.bcm.edu;ucsc.edu	37	16	89757047	89757047	+	Intron	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:89757047G>T	ENST00000353379.7	+	3	275				CDK10_ENST00000331006.8_Intron|CDK10_ENST00000514965.1_Intron|CDK10_ENST00000505473.1_Intron	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10						negative regulation of cell proliferation (GO:0008285)|traversing start control point of mitotic cell cycle (GO:0007089)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GCAGGAAATTGGGGTGTTGGG	0.577																																																	0													250.0	184.0	206.0					16																	89757047		2198	4300	6498	SO:0001627	intron_variant	8558			L33264	CCDS10984.2, CCDS32514.1, CCDS32514.2	16q24.3	2011-11-08	2007-11-21		ENSG00000185324	ENSG00000185324		"""Cyclin-dependent kinases"""	1770	protein-coding gene	gene with protein product		603464	"""cyclin-dependent kinase (CDC2-like) 10"""			8208557, 8084611	Standard	NM_052988		Approved	PISSLRE	uc010cio.3	Q15131	OTTHUMG00000138049	ENST00000353379.7:c.232+15G>T	16.37:g.89757047G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K370|A8K8I6|A8MXU6|B3KQJ3|B7Z420|D3DX82|D3DX83|Q0VGZ7|Q15130|Q6PJC0	RNA	SNP	ENST00000353379.7	37	CCDS10984.2																																																																																				0.577	CDK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269925.2			
DACH2	117154	broad.mit.edu	37	X	86069820	86069820	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chrX:86069820G>T	ENST00000373125.4	+	10	1667	c.1667G>T	c.(1666-1668)gGc>gTc	p.G556V	DACH2_ENST00000510272.1_Missense_Mutation_p.G337V|DACH2_ENST00000508860.1_Missense_Mutation_p.G389V|DACH2_ENST00000373131.1_Missense_Mutation_p.G543V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	556					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G556V(9)|p.G543V(9)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGTGACAGTGGCCTGAGGATG	0.398																																																	18	Substitution - Missense(18)	endometrium(8)|kidney(8)|lung(2)											57.0	48.0	51.0					X																	86069820		2203	4300	6503	SO:0001583	missense	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1667G>T	X.37:g.86069820G>T	ENSP00000362217:p.Gly556Val	Somatic		WXS	Illumina GAIIx	Phase_I	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.667616	0.29604	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82433	-1.57;-1.61	4.76	4.76	0.60689	.	0.153373	0.30410	N	0.009683	D	0.84451	0.5475	L	0.34521	1.04	0.80722	D	1	B;B;D;P	0.61697	0.172;0.085;0.99;0.793	B;B;P;B	0.60068	0.038;0.054;0.868;0.254	T	0.82857	-0.0250	10	0.27082	T	0.32	.	17.002	0.86383	0.0:0.0:1.0:0.0	.	422;556;543;556	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	V	556;543;556;389;337;389;221	ENSP00000362223:G543V;ENSP00000362217:G556V	ENSP00000345134:G556V	G	+	2	0	DACH2	85956476	0.999000	0.42202	0.958000	0.39756	0.913000	0.54294	3.863000	0.56016	1.932000	0.55993	0.415000	0.27848	GGC		0.398	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1		NM_053281	
DCHS1	8642	broad.mit.edu	37	11	6643734	6643734	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr11:6643734G>A	ENST00000299441.3	-	21	9584	c.9173C>T	c.(9172-9174)tCc>tTc	p.S3058F	RP11-732A19.5_ENST00000526456.1_RNA|RP11-732A19.9_ENST00000545572.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3058					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)	p.S3058F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCAGAGAGGAGGCCACACT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											23.0	17.0	19.0					11																	6643734		2195	4285	6480	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9173C>T	11.37:g.6643734G>A	ENSP00000299441:p.Ser3058Phe	Somatic		WXS	Illumina GAIIx	Phase_I	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	18.05	3.536759	0.65085	.	.	ENSG00000166341	ENST00000299441	T	0.59224	0.28	4.62	4.62	0.57501	.	0.000000	0.37178	N	0.002213	T	0.70090	0.3184	L	0.52905	1.665	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.73455	-0.3977	10	0.66056	D	0.02	.	16.6148	0.84904	0.0:0.0:1.0:0.0	.	3058	Q96JQ0	PCD16_HUMAN	F	3058	ENSP00000299441:S3058F	ENSP00000299441:S3058F	S	-	2	0	DCHS1	6600310	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.755000	0.85180	2.394000	0.81467	0.462000	0.41574	TCC		0.582	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737	
DHRS4L1	728635	broad.mit.edu;hgsc.bcm.edu	37	14	24518003	24518003	+	RNA	SNP	A	A	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr14:24518003A>G	ENST00000558293.1	+	0	651					NR_102693.1																						ACTTATCAAGACTAGCTTCAG	0.532																																																	0													141.0	136.0	138.0					14																	24518003		2203	4300	6503			728635																															14.37:g.24518003A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000558293.1	37		.	.	.	.	.	.	.	.	.	.	A	9.546	1.114607	0.20795	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.67	4.67	0.58626	NAD(P)-binding domain (1);	.	.	.	.	T	0.80507	0.4636	M	0.88105	2.93	0.48341	D	0.999631	D	0.63880	0.993	D	0.71414	0.973	D	0.87324	0.2320	7	0.87932	D	0	.	12.0988	0.53772	1.0:0.0:0.0:0.0	.	220	P0CG22	DR4L1_HUMAN	A	220	.	ENSP00000380255:T220A	T	+	1	0	AL136295.1	23587843	1.000000	0.71417	0.987000	0.45799	0.015000	0.08874	7.349000	0.79376	1.958000	0.56883	0.329000	0.21502	ACT		0.532	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1			
EML5	161436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	89093186	89093186	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr14:89093186C>T	ENST00000380664.5	-	33	4711	c.4712G>A	c.(4711-4713)gGt>gAt	p.G1571D	EML5_ENST00000553320.1_5'UTR|EML5_ENST00000352093.5_Missense_Mutation_p.G1533D|EML5_ENST00000554922.1_Missense_Mutation_p.G1579D			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1571						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.G1579D(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACATACTGCACCAAATGCAAT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											85.0	83.0	84.0					14																	89093186		2012	4192	6204	SO:0001583	missense	161436			AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.4712G>A	14.37:g.89093186C>T	ENSP00000370039:p.Gly1571Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902258	0.92035	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664;ENST00000555823	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.14	5.14	0.70334	WD40 repeat-like-containing domain (2);	0.057319	0.64402	D	0.000001	T	0.57242	0.2040	M	0.89214	3.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.993;1.0	T	0.57159	-0.7859	10	0.20046	T	0.44	-23.2453	18.8054	0.92035	0.0:1.0:0.0:0.0	.	1579;1571	Q05BV3-5;Q05BV3	.;EMAL5_HUMAN	D	1579;1533;1571;20	ENSP00000451998:G1579D;ENSP00000298315:G1533D;ENSP00000370039:G1571D;ENSP00000452030:G20D	ENSP00000298315:G1533D	G	-	2	0	EML5	88162939	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.213000	0.77950	2.697000	0.92050	0.655000	0.94253	GGT		0.443	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1			
ENTHD1	150350	broad.mit.edu;ucsc.edu	37	22	40231918	40231918	+	Missense_Mutation	SNP	A	A	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr22:40231918A>T	ENST00000325157.6	-	4	888	c.638T>A	c.(637-639)gTt>gAt	p.V213D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	213								p.V213D(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGGCAAATGAACATCTTGGCA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											292.0	268.0	276.0					22																	40231918		2203	4300	6503	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.638T>A	22.37:g.40231918A>T	ENSP00000317431:p.Val213Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	A	5.543	0.285126	0.10513	.	.	ENSG00000176177	ENST00000325157	T	0.51325	0.71	5.65	-0.269	0.12930	.	2.100850	0.01697	N	0.026946	T	0.33440	0.0863	N	0.19112	0.55	0.09310	N	1	B	0.18166	0.026	B	0.20384	0.029	T	0.13899	-1.0492	10	0.37606	T	0.19	1.2567	5.3282	0.15918	0.5353:0.1449:0.3198:0.0	.	213	Q8IYW4	ENTD1_HUMAN	D	213	ENSP00000317431:V213D	ENSP00000317431:V213D	V	-	2	0	ENTHD1	38561864	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.238000	0.02919	-0.428000	0.07339	-0.491000	0.04670	GTT		0.373	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512	
EPHB4	2050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100411570	100411570	+	Silent	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr7:100411570C>T	ENST00000358173.3	-	9	2130	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V	EPHB4_ENST00000477446.1_5'Flank|EPHB4_ENST00000360620.3_Silent_p.V554V	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	554					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V554V(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCACAATGACCACCAGGACCA	0.642																																					GBM(200;2113 3072 25865 52728)												1	Substitution - coding silent(1)	kidney(1)											118.0	93.0	101.0					7																	100411570		2203	4300	6503	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1662G>A	7.37:g.100411570C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	CCDS5706.1																																																																																				0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1		NM_004444	
FAM135B	51059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	139164359	139164359	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr8:139164359C>A	ENST00000395297.1	-	13	2529	c.2359G>T	c.(2359-2361)Gac>Tac	p.D787Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	787								p.D787Y(2)|p.D787N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGCTTGGTGTCCGCATCTTCA	0.522										HNSCC(54;0.14)																																							4	Substitution - Missense(4)	breast(2)|kidney(2)											48.0	48.0	48.0					8																	139164359		2203	4300	6503	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2359G>T	8.37:g.139164359C>A	ENSP00000378710:p.Asp787Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078166	0.55753	.	.	ENSG00000147724	ENST00000395297	T	0.16324	2.35	5.43	5.43	0.79202	.	0.751873	0.13391	N	0.391387	T	0.32255	0.0823	L	0.34521	1.04	0.09310	N	1	D;D;P	0.76494	0.999;0.999;0.948	D;D;P	0.66351	0.943;0.912;0.62	T	0.16070	-1.0415	10	0.72032	D	0.01	-7.1553	16.4153	0.83731	0.0:1.0:0.0:0.0	.	787;787;787	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	Y	787	ENSP00000378710:D787Y	ENSP00000276737:D787Y	D	-	1	0	FAM135B	139233541	0.031000	0.19500	0.005000	0.12908	0.001000	0.01503	2.627000	0.46469	2.557000	0.86248	0.655000	0.94253	GAC		0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3		NM_015912	
GALM	130589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	38903134	38903134	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:38903134G>T	ENST00000272252.5	+	2	523	c.271G>T	c.(271-273)Gat>Tat	p.D91Y	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	91					galactose metabolic process (GO:0006012)|glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldose 1-epimerase activity (GO:0004034)|carbohydrate binding (GO:0030246)	p.D91Y(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CTTCAAGGTGGATGGGAAGGA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											183.0	147.0	159.0					2																	38903134		2203	4300	6503	SO:0001583	missense	130589				CCDS1797.1	2p22.3	2008-02-05			ENSG00000143891	ENSG00000143891			24063	protein-coding gene	gene with protein product	"""aldose 1 epimerase"""	608883				12753898	Standard	NM_138801		Approved		uc002rqy.3	Q96C23	OTTHUMG00000102077	ENST00000272252.5:c.271G>T	2.37:g.38903134G>T	ENSP00000272252:p.Asp91Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q53RY1|Q8NIA2|V9HWA8	Missense_Mutation	SNP	ENST00000272252.5	37	CCDS1797.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.151493	0.78001	.	.	ENSG00000143891	ENST00000272252	T	0.53640	0.61	5.55	4.67	0.58626	Glycoside hydrolase-type carbohydrate-binding, subgroup (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.219739	0.44688	D	0.000428	T	0.68302	0.2986	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	T	0.72827	-0.4175	10	0.56958	D	0.05	-10.2449	13.8163	0.63295	0.073:0.0:0.927:0.0	.	91	Q96C23	GALM_HUMAN	Y	91	ENSP00000272252:D91Y	ENSP00000272252:D91Y	D	+	1	0	GALM	38756638	1.000000	0.71417	0.473000	0.27253	0.831000	0.47069	6.066000	0.71185	2.606000	0.88127	0.655000	0.94253	GAT		0.498	GALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219891.2		NM_138801	
GOLGA1	2800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	127650593	127650593	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:127650593T>G	ENST00000373555.4	-	19	2177	c.1844A>C	c.(1843-1845)gAt>gCt	p.D615A	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	615					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.D615A(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						CTGTGTGAGATCCATGGCCCC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											291.0	237.0	255.0					9																	127650593		2203	4300	6503	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1844A>C	9.37:g.127650593T>G	ENSP00000362656:p.Asp615Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412416	0.62511	.	.	ENSG00000136935	ENST00000373555	T	0.27104	1.69	5.06	3.9	0.45041	.	0.487563	0.17076	N	0.187981	T	0.20170	0.0485	L	0.48642	1.525	0.46849	D	0.999222	B	0.28713	0.22	B	0.25140	0.058	T	0.02975	-1.1087	10	0.14656	T	0.56	-7.743	10.6444	0.45610	0.0:0.0804:0.0:0.9196	.	615	Q92805	GOGA1_HUMAN	A	615	ENSP00000362656:D615A	ENSP00000362656:D615A	D	-	2	0	GOLGA1	126690414	0.976000	0.34144	0.255000	0.24374	0.410000	0.31052	2.673000	0.46858	2.040000	0.60383	0.363000	0.22086	GAT		0.527	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1		NM_002077	
GP1BA	2811	broad.mit.edu;ucsc.edu	37	17	4837666	4837666	+	Silent	SNP	A	A	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr17:4837666A>C	ENST00000329125.5	+	2	1842	c.1767A>C	c.(1765-1767)acA>acC	p.T589T		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	589					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)	p.T589T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GGCAAGTGACAGTGCCCCGGG	0.627											OREG0024109	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											130.0	148.0	142.0					17																	4837666		2102	4231	6333	SO:0001819	synonymous_variant	2811				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.1767A>C	17.37:g.4837666A>C		Somatic	621	WXS	Illumina GAIIx	Phase_I	E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	ENST00000329125.5	37	CCDS54068.1																																																																																				0.627	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439889.1			
GPR12	2835	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	27333242	27333242	+	Silent	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr13:27333242C>T	ENST00000381436.2	-	1	1185	c.723G>A	c.(721-723)tcG>tcA	p.S241S	GPR12_ENST00000405846.3_Silent_p.S241S			P47775	GPR12_HUMAN	G protein-coupled receptor 12	241					cellular calcium ion homeostasis (GO:0006874)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)	p.S241S(1)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TCACATAGTGCGACGTGGCCA	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	59.0	60.0					13																	27333242		2203	4300	6503	SO:0001819	synonymous_variant	2835			U18548	CCDS9319.1	13q12	2014-06-12			ENSG00000132975	ENSG00000132975		"""GPCR / Class A : Orphans"""	4466	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 84"""	600752				8262253, 8530049	Standard	NM_005288		Approved	GPCR21, PPP1R84	uc010aal.3	P47775	OTTHUMG00000016620	ENST00000381436.2:c.723G>A	13.37:g.27333242C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T8P3	Silent	SNP	ENST00000381436.2	37	CCDS9319.1																																																																																				0.547	GPR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044257.2			
GREB1	9687	broad.mit.edu	37	2	11725906	11725906	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:11725906G>T	ENST00000381486.2	+	9	1334	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F	GREB1_ENST00000234142.5_Missense_Mutation_p.C345F|GREB1_ENST00000263834.5_Missense_Mutation_p.C345F|GREB1_ENST00000381483.2_Missense_Mutation_p.C345F|RN7SL674P_ENST00000463397.2_RNA	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	345						integral component of membrane (GO:0016021)		p.C345F(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCATGTCCTGCGTGCCGCAG	0.522																																					Ovarian(39;850 945 2785 23371 33093)												3	Substitution - Missense(3)	kidney(3)											87.0	79.0	82.0					2																	11725906		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.1034G>T	2.37:g.11725906G>T	ENSP00000370896:p.Cys345Phe	Somatic		WXS	Illumina GAIIx	Phase_I	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598070	0.28445	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000381483;ENST00000234142	T;T;T;T	0.17528	3.29;2.27;2.29;3.29	5.46	5.46	0.80206	.	0.338970	0.31554	N	0.007447	T	0.26991	0.0661	L	0.46157	1.445	0.39588	D	0.969542	P;P;P	0.50617	0.881;0.937;0.755	P;P;B	0.52514	0.701;0.628;0.179	T	0.00986	-1.1490	10	0.56958	D	0.05	-1.183	14.2421	0.65963	0.0:0.1603:0.8397:0.0	.	345;345;345	Q4ZG55-2;Q4ZG55-3;Q4ZG55	.;.;GREB1_HUMAN	F	345	ENSP00000370896:C345F;ENSP00000263834:C345F;ENSP00000370892:C345F;ENSP00000234142:C345F	ENSP00000234142:C345F	C	+	2	0	GREB1	11643357	1.000000	0.71417	0.836000	0.33094	0.023000	0.10783	4.060000	0.57477	2.568000	0.86640	0.650000	0.86243	TGC		0.522	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668	
IL18RAP	8807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	103067330	103067330	+	Silent	SNP	C	C	T	rs140183707	byFrequency	TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:103067330C>T	ENST00000264260.2	+	11	1822	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IL18RAP_ENST00000409369.1_Silent_p.F269F	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	411	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.F411F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TTGATGCTTTCGTATCCTATG	0.343																																																	1	Substitution - coding silent(1)	kidney(1)						C		2,4404	2.1+/-5.4	0,2,2201	90.0	98.0	95.0		1233	-2.6	0.1	2	dbSNP_134	95	0,8600		0,0,4300	no	coding-synonymous	IL18RAP	NM_003853.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		411/600	103067330	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1233C>T	2.37:g.103067330C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	CCDS2061.1																																																																																				0.343	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853	
KCNH6	81033	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	61607502	61607502	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr17:61607502G>T	ENST00000583023.1	+	3	369	c.358G>T	c.(358-360)Ggg>Tgg	p.G120W	KCNH6_ENST00000456941.2_Missense_Mutation_p.G120W|KCNH6_ENST00000314672.5_Missense_Mutation_p.G120W|KCNH6_ENST00000580652.1_Missense_Mutation_p.G120W|KCNH6_ENST00000581784.1_Missense_Mutation_p.G120W	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	120	PAC.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.G120W(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	GAACGAGGACGGGGCTGTCAT	0.627																																																	1	Substitution - Missense(1)	kidney(1)											102.0	86.0	92.0					17																	61607502		2203	4300	6503	SO:0001583	missense	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.358G>T	17.37:g.61607502G>T	ENSP00000463533:p.Gly120Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103590	0.37145	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.99841	-7.09;-7.09	4.76	4.76	0.60689	PAS fold (1);	0.000000	0.49916	D	0.000126	D	0.99891	0.9948	H	0.96861	3.895	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.992	D	0.96215	0.9156	10	0.87932	D	0	.	17.5648	0.87917	0.0:0.0:1.0:0.0	.	120;120;120	Q9H252-2;Q9H252;Q9H252-3	.;KCNH6_HUMAN;.	W	120	ENSP00000318212:G120W;ENSP00000396900:G120W	ENSP00000318212:G120W	G	+	1	0	KCNH6	58961234	1.000000	0.71417	0.924000	0.36721	0.820000	0.46376	9.198000	0.94994	2.483000	0.83821	0.561000	0.74099	GGG		0.627	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779	
KIAA1147	57189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	141365016	141365016	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr7:141365016C>A	ENST00000536163.1	-	6	922	c.923G>T	c.(922-924)aGc>aTc	p.S308I	KIAA1147_ENST00000482493.1_Missense_Mutation_p.S204I|RP5-894A10.6_ENST00000602609.1_RNA	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	308								p.S308I(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TACCTCCAGGCTCTCGATGTC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											75.0	80.0	79.0					7																	141365016		2107	4229	6336	SO:0001583	missense	57189			AB032973	CCDS47726.1	7q34	2012-10-04			ENSG00000257093	ENSG00000257093			29472	protein-coding gene	gene with protein product							Standard	NM_001080392		Approved	LCHN	uc003vwk.3	A4D1U4	OTTHUMG00000157539	ENST00000536163.1:c.923G>T	7.37:g.141365016C>A	ENSP00000445768:p.Ser308Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULS3	Missense_Mutation	SNP	ENST00000536163.1	37	CCDS47726.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.034294	0.35893	.	.	ENSG00000257093	ENST00000536163;ENST00000482493	.	.	.	4.8	1.94	0.25998	.	0.343237	0.37577	N	0.002024	T	0.19805	0.0476	L	0.29908	0.895	0.28855	N	0.895817	B	0.28584	0.216	B	0.30716	0.119	T	0.11641	-1.0579	9	0.22109	T	0.4	-10.9536	1.6466	0.02763	0.1834:0.4083:0.2399:0.1683	.	308	A4D1U4	LCHN_HUMAN	I	308;204	.	ENSP00000297761:S308I	S	-	2	0	KIAA1147	141011485	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.214000	0.51161	0.083000	0.17047	0.655000	0.94253	AGC		0.602	KIAA1147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349104.1			
KIF20A	10112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137520633	137520633	+	Silent	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:137520633C>T	ENST00000394894.3	+	14	2047	c.1821C>T	c.(1819-1821)tgC>tgT	p.C607C	KIF20A_ENST00000508792.1_Silent_p.C589C	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	607					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)	p.C607C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AACAGTGGTGCAGGTACTAGC	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											120.0	115.0	117.0					5																	137520633		2203	4300	6503	SO:0001819	synonymous_variant	10112			AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1821C>T	5.37:g.137520633C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DL79|D3DQB6	Silent	SNP	ENST00000394894.3	37	CCDS4199.1																																																																																				0.493	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1		NM_005733	
KRTAP1-3	81850	broad.mit.edu	37	17	39190639	39190639	+	Silent	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr17:39190639G>A	ENST00000344363.5	-	1	468	c.435C>T	c.(433-435)cgC>cgT	p.R145R		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	155						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.R145R(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGTAGGATGGGCGGCAGCAGG	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											32.0	39.0	37.0					17																	39190639		2066	4202	6268	SO:0001819	synonymous_variant	81850			AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.435C>T	17.37:g.39190639G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q07628|Q8IUG0|Q9BYS2	Silent	SNP	ENST00000344363.5	37	CCDS42323.1																																																																																				0.612	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1			
L1TD1	54596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62673128	62673128	+	Missense_Mutation	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:62673128T>G	ENST00000498273.1	+	3	1123	c.828T>G	c.(826-828)ttT>ttG	p.F276L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	276								p.F276L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						aacctaaatttctgtgtgaag	0.348																																																	1	Substitution - Missense(1)	kidney(1)											28.0	24.0	26.0					1																	62673128		1578	2817	4395	SO:0001583	missense	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.828T>G	1.37:g.62673128T>G	ENSP00000419901:p.Phe276Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	T	8.850	0.944337	0.18356	.	.	ENSG00000240563	ENST00000498273	T	0.08193	3.12	2.35	1.15	0.20763	.	.	.	.	.	T	0.04137	0.0115	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	5.1726	0.15118	0.0:0.0:0.3323:0.6677	.	276	Q5T7N2	LITD1_HUMAN	L	276	ENSP00000419901:F276L	ENSP00000419901:F276L	F	+	3	2	L1TD1	62445716	0.033000	0.19621	0.003000	0.11579	0.042000	0.13812	0.571000	0.23669	0.333000	0.23563	0.383000	0.25322	TTT		0.348	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024688.1		NM_019079	
LCMT1	51451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	25162930	25162930	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:25162930C>G	ENST00000399069.3	+	5	615	c.460C>G	c.(460-462)Cag>Gag	p.Q154E	LCMT1_ENST00000380966.4_Intron|LCMT1_ENST00000572869.1_3'UTR|RP11-266L9.2_ENST00000562280.1_RNA	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	154					C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|negative regulation of protein complex assembly (GO:0031333)|protein methylation (GO:0006479)|regulation of apoptotic process (GO:0042981)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	cytosol (GO:0005829)	protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.Q154E(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GGACACACTTCAGATGGGCAA	0.458																																					Colon(200;565 2072 24396 47922 50898)												1	Substitution - Missense(1)	kidney(1)											87.0	83.0	84.0					16																	25162930		1931	4125	6056	SO:0001583	missense	51451			AF037601	CCDS45445.1, CCDS45446.1	16p12.1	2014-08-01			ENSG00000205629	ENSG00000205629			17557	protein-coding gene	gene with protein product	"""protein phosphatase methyltransferase 1"""	610286				10810093	Standard	XM_005255354		Approved	CGI-68, PPMT1	uc002dnx.1	Q9UIC8	OTTHUMG00000177182	ENST00000399069.3:c.460C>G	16.37:g.25162930C>G	ENSP00000382021:p.Gln154Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NL89|A8K770|Q53FC5|Q96CI5|Q9H6I9|Q9NTG4|Q9Y378	Missense_Mutation	SNP	ENST00000399069.3	37	CCDS45445.1	.	.	.	.	.	.	.	.	.	.	C	0.070	-1.205259	0.01568	.	.	ENSG00000205629	ENST00000399069;ENST00000380962	T	0.21191	2.02	4.71	2.68	0.31781	.	0.419151	0.26103	N	0.026321	T	0.09905	0.0243	N	0.16708	0.43	0.22762	N	0.998769	B	0.02656	0.0	B	0.08055	0.003	T	0.37150	-0.9718	10	0.02654	T	1	-8.3545	9.9694	0.41745	0.3683:0.6317:0.0:0.0	.	154	Q9UIC8	LCMT1_HUMAN	E	154;171	ENSP00000382021:Q154E	ENSP00000370349:Q171E	Q	+	1	0	LCMT1	25070431	0.684000	0.27642	0.195000	0.23364	0.911000	0.54048	1.186000	0.32078	0.657000	0.30906	0.561000	0.74099	CAG		0.458	LCMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435747.4		NM_016309	
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39801310	39801310	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:39801310C>A	ENST00000372915.3	+	36	9152	c.9065C>A	c.(9064-9066)cCt>cAt	p.P3022H	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P1457H|MACF1_ENST00000564288.1_Missense_Mutation_p.P3017H|MACF1_ENST00000567887.1_Missense_Mutation_p.P3054H|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3022					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.P1457H(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGAGCCAACCTAGGGAAATG	0.383																																																	1	Substitution - Missense(1)	kidney(1)											68.0	72.0	71.0					1																	39801310		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.9065C>A	1.37:g.39801310C>A	ENSP00000362006:p.Pro3022His	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.	.	.	.	.	.	.	.	.	.	C	5.611	0.297437	0.10622	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61627	0.09;1.15	5.38	4.46	0.54185	.	1.008860	0.07958	N	0.981946	T	0.46444	0.1393	N	0.19112	0.55	0.34488	D	0.704672	P	0.38642	0.641	B	0.36959	0.237	T	0.51419	-0.8708	10	0.59425	D	0.04	.	12.1313	0.53944	0.0:0.8273:0.1727:0.0	.	3022	Q9UPN3	MACF1_HUMAN	H	3022;1457	ENSP00000362006:P3022H;ENSP00000289893:P1457H	ENSP00000289893:P1457H	P	+	2	0	MACF1	39573897	0.010000	0.17322	0.002000	0.10522	0.483000	0.33249	2.525000	0.45598	1.246000	0.43901	0.467000	0.42956	CCT		0.383	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044	
MAP3K13	9175	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	185195185	185195185	+	Splice_Site	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr3:185195185G>A	ENST00000265026.3	+	12	2835		c.e12+1		MAP3K13_ENST00000535426.1_Splice_Site|MAP3K13_ENST00000443863.1_Splice_Site|TMEM41A_ENST00000475480.1_5'Flank|MAP3K13_ENST00000446828.1_Splice_Site|MAP3K13_ENST00000424227.1_Splice_Site	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.?(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGACAGAGGTAAAACCAAC	0.433																																																	2	Unknown(2)	kidney(2)											122.0	116.0	118.0					3																	185195185		2203	4300	6503	SO:0001630	splice_region_variant	9175			BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.2501+1G>A	3.37:g.185195185G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000265026.3	37	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126314	0.77549	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2605	0.90034	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAP3K13	186677879	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	9.302000	0.96175	2.753000	0.94483	0.462000	0.41574	.		0.433	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1		NM_004721	Intron
MARK1	4139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	220835299	220835299	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:220835299G>T	ENST00000366917.4	+	18	2445	c.2179G>T	c.(2179-2181)Gca>Tca	p.A727S	MARK1_ENST00000402574.1_Missense_Mutation_p.A577S|RP11-322F10.2_ENST00000446040.1_RNA|MARK1_ENST00000366918.4_Missense_Mutation_p.A690S					MAP/microtubule affinity-regulating kinase 1									p.A727S(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AGTGTTAGATGCAAATAACTG	0.433																																																	1	Substitution - Missense(1)	kidney(1)											116.0	115.0	116.0					1																	220835299		2203	4300	6503	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2179G>T	1.37:g.220835299G>T	ENSP00000355884:p.Ala727Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738491	0.69304	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.54479	0.57;0.57;0.57	6.16	5.25	0.73442	Kinase-associated KA1 (2);	0.056855	0.64402	D	0.000001	T	0.59622	0.2207	M	0.64404	1.975	0.46416	D	0.999033	P;P;B;B	0.39094	0.529;0.659;0.36;0.126	B;P;B;B	0.45343	0.285;0.477;0.14;0.2	T	0.62760	-0.6786	10	0.56958	D	0.05	.	15.682	0.77376	0.0653:0.0:0.9347:0.0	.	712;577;727;690	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	S	577;690;727	ENSP00000386017:A577S;ENSP00000355885:A690S;ENSP00000355884:A727S	ENSP00000355884:A727S	A	+	1	0	MARK1	218901922	1.000000	0.71417	0.967000	0.41034	0.992000	0.81027	6.840000	0.75369	1.626000	0.50381	0.650000	0.86243	GCA		0.433	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			
MGRN1	23295	broad.mit.edu	37	16	4727555	4727555	+	Silent	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:4727555G>A	ENST00000399577.5	+	11	1140	c.1047G>A	c.(1045-1047)ctG>ctA	p.L349L	MGRN1_ENST00000586183.1_Silent_p.L349L|MGRN1_ENST00000415496.1_Silent_p.L350L|MGRN1_ENST00000262370.7_Silent_p.L349L|MGRN1_ENST00000588994.1_Silent_p.L349L	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	349					endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L349L(2)		endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CCCAGAGCCTGGAGCATGATG	0.697																																																	2	Substitution - coding silent(2)	kidney(2)											36.0	42.0	40.0					16																	4727555		2006	4168	6174	SO:0001819	synonymous_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.1047G>A	16.37:g.4727555G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A4URL3|A4URL4|Q86W76	Silent	SNP	ENST00000399577.5	37	CCDS45402.1																																																																																				0.697	MGRN1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432060.2			
MPDZ	8777	hgsc.bcm.edu;ucsc.edu	37	9	13206010	13206011	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:13206010_13206011insTT	ENST00000319217.7	-	11	1625_1626	c.1378_1379insAA	c.(1378-1380)atgfs	p.M460fs	MPDZ_ENST00000546205.1_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000541718.1_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000447879.1_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000381015.4_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000536827.1_Frame_Shift_Ins_p.M460fs|MPDZ_ENST00000381022.2_Frame_Shift_Ins_p.M460fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	460	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTCTCCTCATTAGTGTCAGG	0.431																																																	0																																										SO:0001589	frameshift_variant	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1377_1378dupAA	9.37:g.13206011_13206012dupTT	ENSP00000320006:p.Met460fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Ins	INS	ENST00000319217.7	37																																																																																					0.431	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829	
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36985915	36985915	+	Frame_Shift_Del	DEL	G	G	-	rs374308470		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:36985915delG	ENST00000282516.8	+	10	3132	c.2633delG	c.(2632-2634)aggfs	p.R878fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.R878fs|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	878					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGGGACTCAAGGGAAAGACCA	0.363																																																	0													51.0	52.0	52.0					5																	36985915		2203	4300	6503	SO:0001589	frameshift_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2633delG	5.37:g.36985915delG	ENSP00000282516:p.Arg878fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Del	DEL	ENST00000282516.8	37	CCDS3920.1																																																																																				0.363	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384	
NPPA	4878	broad.mit.edu;ucsc.edu	37	1	11907351	11907351	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:11907351G>T	ENST00000376480.3	-	2	367	c.269C>A	c.(268-270)gCc>gAc	p.A90D	NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.A40D|NPPA-AS1_ENST00000446542.1_RNA	NM_006172.3	NP_006163.1	P01160	ANF_HUMAN	natriuretic peptide A	90					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.A90D(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATCTCTCTGGGCTGGGCTGAC	0.667																																																	1	Substitution - Missense(1)	kidney(1)											30.0	36.0	34.0					1																	11907351		2193	4298	6491	SO:0001583	missense	4878			BC005893	CCDS139.1	1p36.21	2014-09-17	2010-11-09		ENSG00000175206	ENSG00000175206		"""Endogenous ligands"""	7939	protein-coding gene	gene with protein product		108780	"""natriuretic peptide precursor A"""	ANP, PND			Standard	NM_006172		Approved		uc001ati.3	P01160	OTTHUMG00000002388	ENST00000376480.3:c.269C>A	1.37:g.11907351G>T	ENSP00000365663:p.Ala90Asp	Somatic		WXS	Illumina GAIIx	Phase_I	Q13766|Q5JZE1	Missense_Mutation	SNP	ENST00000376480.3	37	CCDS139.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594407	0.46214	.	.	ENSG00000175206	ENST00000376480;ENST00000376476	T	0.45668	0.89	5.84	2.93	0.34026	.	0.504912	0.20878	N	0.084058	T	0.36138	0.0956	M	0.76574	2.34	0.26044	N	0.981569	P	0.38922	0.651	B	0.32805	0.153	T	0.35871	-0.9771	10	0.54805	T	0.06	-2.7832	5.3908	0.16244	0.1673:0.0:0.6715:0.1612	.	90	P01160	ANF_HUMAN	D	90;40	ENSP00000365663:A90D	ENSP00000365659:A40D	A	-	2	0	NPPA	11829938	0.910000	0.30920	0.884000	0.34674	0.878000	0.50629	0.497000	0.22514	0.371000	0.24564	0.561000	0.74099	GCC		0.667	NPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006852.1		NM_006172	
NUMBL	9253	broad.mit.edu	37	19	41173395	41173395	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr19:41173395delT	ENST00000252891.4	-	10	1975	c.1808delA	c.(1807-1809)aagfs	p.K603fs	NUMBL_ENST00000540131.1_Frame_Shift_Del_p.K562fs|NUMBL_ENST00000598779.1_Frame_Shift_Del_p.K562fs	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	603					adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CTCGAATGTCTTTTGCAGGTC	0.597																																																	0													15.0	15.0	15.0					19																	41173395		2202	4300	6502	SO:0001589	frameshift_variant	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1808delA	19.37:g.41173395delT	ENSP00000252891:p.Lys603fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q7Z4J9	Frame_Shift_Del	DEL	ENST00000252891.4	37	CCDS12561.1																																																																																				0.597	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2		NM_004756	
OR1L3	26735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125437494	125437494	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:125437494C>T	ENST00000304820.2	+	1	180	c.86C>T	c.(85-87)gCc>gTc	p.A29V		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A29V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						CCACTCTTTGCCCTCTTTCTT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											131.0	130.0	130.0					9																	125437494		2203	4300	6503	SO:0001583	missense	26735				CCDS35128.1	9q33.2	2013-09-20			ENSG00000171481	ENSG00000171481		"""GPCR / Class A : Olfactory receptors"""	8215	protein-coding gene	gene with protein product							Standard	NM_001005234		Approved	OR9-D	uc011lzb.2	Q8NH93	OTTHUMG00000020619	ENST00000304820.2:c.86C>T	9.37:g.125437494C>T	ENSP00000302863:p.Ala29Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNF4|Q6IFN1	Missense_Mutation	SNP	ENST00000304820.2	37	CCDS35128.1	.	.	.	.	.	.	.	.	.	.	C	6.947	0.544609	0.13312	.	.	ENSG00000171481	ENST00000304820	T	0.00384	7.6	4.54	-0.483	0.12075	.	0.867182	0.09481	N	0.796358	T	0.00144	0.0004	N	0.04260	-0.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.05419	-1.0886	10	0.19590	T	0.45	-0.1243	5.2396	0.15464	0.0:0.4286:0.145:0.4264	.	29	Q8NH93	OR1L3_HUMAN	V	29	ENSP00000302863:A29V	ENSP00000302863:A29V	A	+	2	0	OR1L3	124477315	0.000000	0.05858	0.993000	0.49108	0.951000	0.60555	-0.677000	0.05215	0.108000	0.17862	0.644000	0.83932	GCC		0.448	OR1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053950.1			
OR6K2	81448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158670428	158670428	+	Missense_Mutation	SNP	A	A	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:158670428A>C	ENST00000359610.2	-	1	58	c.15T>G	c.(13-15)aaT>aaG	p.N5K		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N5K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGGTGGTTCGATTGGGGCTCT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											83.0	87.0	85.0					1																	158670428		2181	4285	6466	SO:0001583	missense	81448			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.15T>G	1.37:g.158670428A>C	ENSP00000352626:p.Asn5Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	A	14.63	2.593677	0.46214	.	.	ENSG00000196171	ENST00000359610	T	0.02158	4.42	4.48	4.48	0.54585	.	0.000000	0.38837	U	0.001546	T	0.03871	0.0109	M	0.93062	3.375	0.09310	N	1	P	0.47841	0.901	P	0.47402	0.546	T	0.19321	-1.0309	10	0.87932	D	0	-10.028	8.1506	0.31139	0.9054:0.0:0.0946:0.0	.	5	Q8NGY2	OR6K2_HUMAN	K	5	ENSP00000352626:N5K	ENSP00000352626:N5K	N	-	3	2	OR6K2	156937052	0.033000	0.19621	0.162000	0.22713	0.024000	0.10985	0.356000	0.20181	1.872000	0.54250	0.459000	0.35465	AAT		0.433	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1		NM_001005279	
PARP4	143	hgsc.bcm.edu;ucsc.edu	37	13	25021323	25021323	+	Splice_Site	SNP	A	A	G	rs73172125		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr13:25021323A>G	ENST00000381989.3	-	26	3221	c.3116T>C	c.(3115-3117)aTa>aCa	p.I1039T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1039	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1039T(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGGTCTTCTATCTATTTATA	0.408																																																	2	Substitution - Missense(2)	prostate(1)|stomach(1)											40.0	41.0	41.0					13																	25021323		2203	4300	6503	SO:0001630	splice_region_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3115-1T>C	13.37:g.25021323A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297585	0.60086	.	.	ENSG00000102699	ENST00000381989	T	0.23147	1.92	4.69	4.69	0.59074	von Willebrand factor, type A (2);	0.215738	0.48767	D	0.000175	T	0.42177	0.1191	M	0.79475	2.455	0.40246	D	0.978015	P	0.45348	0.856	P	0.51055	0.657	T	0.48222	-0.9054	10	0.72032	D	0.01	-21.476	12.4624	0.55738	1.0:0.0:0.0:0.0	.	1039	Q9UKK3	PARP4_HUMAN	T	1039	ENSP00000371419:I1039T	ENSP00000371419:I1039T	I	-	2	0	PARP4	23919323	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.226000	0.58606	2.105000	0.64084	0.514000	0.50259	ATA		0.408	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437	Missense_Mutation
PGBD1	84547	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28251758	28251758	+	Silent	SNP	C	C	T	rs370251891		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr6:28251758C>T	ENST00000405948.2	+	2	588	c.168C>T	c.(166-168)caC>caT	p.H56H	PGBD1_ENST00000259883.3_Silent_p.H56H	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	56	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.					membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H56H(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGGAGGCTCACGGACCCCAGG	0.582																																																	1	Substitution - coding silent(1)	kidney(1)						C	,	1,4405	2.1+/-5.4	0,1,2202	73.0	71.0	72.0		168,168	-8.7	0.0	6		72	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PGBD1	NM_001184743.1,NM_032507.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	56/810,56/810	28251758	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.168C>T	6.37:g.28251758C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	CCDS4648.1																																																																																				0.582	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			
PLK3	1263	broad.mit.edu	37	1	45269620	45269620	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:45269620delC	ENST00000372201.4	+	10	1421	c.1182delC	c.(1180-1182)ggcfs	p.G394fs	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	394					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic microtubule organization (GO:0031122)|endomitotic cell cycle (GO:0007113)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi disassembly (GO:0090166)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G1/S transition checkpoint (GO:0044819)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell division (GO:0051302)|regulation of cytokinesis (GO:0032465)|response to osmotic stress (GO:0006970)|response to radiation (GO:0009314)|response to reactive oxygen species (GO:0000302)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi stack (GO:0005795)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CAGCTTCTGGCCCAGCCCCTG	0.627																																																	0													16.0	15.0	15.0					1																	45269620		2139	4173	6312	SO:0001589	frameshift_variant	1263			AJ293866	CCDS515.1	1p34.1	2013-01-18	2010-06-24	2004-01-28	ENSG00000173846	ENSG00000173846			2154	protein-coding gene	gene with protein product		602913	"""cytokine-inducible kinase"", ""polo-like kinase 3 (Drosophila)"""	CNK		8702627	Standard	NM_004073		Approved	FNK, PRK	uc001cmn.3	Q9H4B4	OTTHUMG00000008491	ENST00000372201.4:c.1182delC	1.37:g.45269620delC	ENSP00000361275:p.Gly394fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q15767|Q5JR99|Q96CV1	Frame_Shift_Del	DEL	ENST00000372201.4	37	CCDS515.1																																																																																				0.627	PLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023429.1		NM_004073	
PRKCE	5581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	46228548	46228548	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:46228548delA	ENST00000306156.3	+	7	1156	c.829delA	c.(829-831)aaafs	p.K277fs	PRKCE_ENST00000394874.1_5'UTR	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	277					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular response to ethanol (GO:0071361)|cellular response to hypoxia (GO:0071456)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|locomotory exploration behavior (GO:0035641)|macrophage activation involved in immune response (GO:0002281)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cellular glucuronidation (GO:2001031)|positive regulation of cytokinesis (GO:0032467)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of insulin secretion (GO:0032024)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|release of sequestered calcium ion into cytosol (GO:0051209)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|TRAM-dependent toll-like receptor 4 signaling pathway (GO:0035669)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|ethanol binding (GO:0035276)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|receptor activator activity (GO:0030546)|signal transducer activity (GO:0004871)		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)		Tamoxifen(DB00675)	TACAGTCTGCAAAATGAATGT	0.453																																																	0													134.0	128.0	130.0					2																	46228548		1833	3762	5595	SO:0001589	frameshift_variant	5581				CCDS1824.1	2p21	2009-07-10			ENSG00000171132	ENSG00000171132	2.7.11.1		9401	protein-coding gene	gene with protein product		176975				1382605, 7877991	Standard	NM_005400		Approved		uc002rut.3	Q02156	OTTHUMG00000128817	ENST00000306156.3:c.829delA	2.37:g.46228548delA	ENSP00000306124:p.Lys277fs	Somatic		WXS	Illumina HiSeq	Phase_I	B0LPH7|Q32MQ3|Q53SL4|Q53SM5|Q9UE81	Frame_Shift_Del	DEL	ENST00000306156.3	37	CCDS1824.1																																																																																				0.453	PRKCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250751.2			
PRR12	57479	broad.mit.edu	37	19	50128756	50128756	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr19:50128756delG	ENST00000418929.2	+	14	6015	c.6003delG	c.(6001-6003)cagfs	p.Q2001fs	CTB-33G10.11_ENST00000600665.1_RNA	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1180							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTGGGCCAGGAGGAGGTGG	0.677																																																	0													16.0	21.0	19.0					19																	50128756		2008	4165	6173	SO:0001589	frameshift_variant	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.6003delG	19.37:g.50128756delG	ENSP00000394510:p.Gln2001fs	Somatic		WXS	Illumina GAIIx	Phase_I	E9PB06|Q8N4J6	Frame_Shift_Del	DEL	ENST00000418929.2	37	CCDS46143.1																																																																																				0.677	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1		NM_020719	
RALGAPA1	253959	hgsc.bcm.edu	37	14	36140604	36140611	+	Frame_Shift_Del	DEL	AGCTGAAG	AGCTGAAG	-	rs201831397	byFrequency	TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	AGCTGAAG	AGCTGAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr14:36140604_36140611delAGCTGAAG	ENST00000389698.3	-	25	4058_4065	c.3668_3675delCTTCAGCT	c.(3667-3675)tcttcagctfs	p.SSA1223fs	RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.SSA1236fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.SSA1223fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.SSA1270fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1223					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.S1223F(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTGAGAAAAGCTGAAGAAGCCACTCT	0.361																																																	2	Substitution - Missense(2)	lung(2)																																								SO:0001589	frameshift_variant	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3668_3675delCTTCAGCT	14.37:g.36140604_36140611delAGCTGAAG	ENSP00000374348:p.Ser1223fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	ENST00000389698.3	37	CCDS32065.1																																																																																				0.361	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022	
RILPL1	353116	broad.mit.edu	37	12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	SNRNP35_ENST00000527158.2_3'UTR|RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R|RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)		p.S358R(3)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGAGAAGAAGCTAAACCTTT	0.498																																																	3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65.0	63.0	63.0					12																	123957223		1944	4154	6098	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q66K36|Q8N1M0	Missense_Mutation	SNP	ENST00000376874.4	37	CCDS45006.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1		NM_178314	
RRBP1	6238	broad.mit.edu;ucsc.edu	37	20	17605265	17605265	+	Missense_Mutation	SNP	C	C	G	rs200276432		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr20:17605265C>G	ENST00000377813.1	-	13	3406	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	RRBP1_ENST00000455029.2_Missense_Mutation_p.E376Q|RRBP1_ENST00000377807.2_Missense_Mutation_p.E602Q|RRBP1_ENST00000360807.4_Missense_Mutation_p.E602Q|RRBP1_ENST00000470422.1_5'Flank|RRBP1_ENST00000246043.4_Missense_Mutation_p.E1035Q			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1035					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.E1035Q(1)|p.E602Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CAGGCCTGCTCGGCCGTGGCC	0.632																																																	2	Substitution - Missense(2)	kidney(2)											75.0	55.0	62.0					20																	17605265		2202	4299	6501	SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3103G>C	20.37:g.17605265C>G	ENSP00000367044:p.Glu1035Gln	Somatic		WXS	Illumina GAIIx	Phase_I	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	13.63	2.293142	0.40594	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000455029	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	5.84	5.84	0.93424	.	0.000000	0.38005	N	0.001843	T	0.55210	0.1906	M	0.79258	2.445	0.80722	D	1	D	0.53745	0.962	P	0.54174	0.744	T	0.50329	-0.8841	10	0.30854	T	0.27	-43.4558	18.7059	0.91639	0.0:1.0:0.0:0.0	.	602	Q9P2E9-3	.	Q	602;1035;602;1035;376	ENSP00000354045:E602Q;ENSP00000367044:E1035Q;ENSP00000367038:E602Q;ENSP00000246043:E1035Q;ENSP00000401206:E376Q	ENSP00000246043:E1035Q	E	-	1	0	RRBP1	17553265	0.998000	0.40836	0.956000	0.39512	0.029000	0.11900	4.092000	0.57707	2.768000	0.95171	0.561000	0.74099	GAG		0.632	RRBP1-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000078125.1		NM_001042576	
RYR2	6262	hgsc.bcm.edu	37	1	237732446	237732446	+	Splice_Site	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr1:237732446C>A	ENST00000366574.2	+	29	3742	c.3425C>A	c.(3424-3426)gCc>gAc	p.A1142D	RYR2_ENST00000360064.6_Splice_Site_p.A1140D|RYR2_ENST00000542537.1_Splice_Site_p.A1126D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1142	4 X approximate repeats.|B30.2/SPRY 2. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1140D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTGTATAGGCCCAGCGGTGG	0.527																																																	1	Substitution - Missense(1)	prostate(1)											67.0	69.0	68.0					1																	237732446		2060	4196	6256	SO:0001630	splice_region_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3424-1C>A	1.37:g.237732446C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464419	0.84425	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60040	0.22;0.22;0.22	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.084543	0.47093	D	0.000258	T	0.63581	0.2523	M	0.73598	2.24	0.80722	D	1	P	0.42584	0.784	B	0.42522	0.39	T	0.67734	-0.5594	10	0.72032	D	0.01	.	16.2608	0.82541	0.0:0.8683:0.1316:0.0	.	1142	Q92736	RYR2_HUMAN	D	1142;1140;1126	ENSP00000355533:A1142D;ENSP00000353174:A1140D;ENSP00000443798:A1126D	ENSP00000353174:A1140D	A	+	2	0	RYR2	235799069	0.929000	0.31497	1.000000	0.80357	0.967000	0.64934	1.944000	0.40263	2.941000	0.99782	0.655000	0.94253	GCC		0.527	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	Missense_Mutation
SACS	26278	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	23915483	23915483	+	Silent	SNP	T	T	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr13:23915483T>G	ENST00000382292.3	-	9	2805	c.2532A>C	c.(2530-2532)gtA>gtC	p.V844V	SACS_ENST00000382298.3_Silent_p.V844V|SACS_ENST00000402364.1_Silent_p.V94V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	844					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.V844V(1)|p.V697V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAGTTTTTGTACAATGTCTG	0.358																																																	2	Substitution - coding silent(2)	kidney(2)											78.0	82.0	81.0					13																	23915483		2203	4300	6503	SO:0001819	synonymous_variant	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.2532A>C	13.37:g.23915483T>G		Somatic		WXS	Illumina HiSeq	Phase_I	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	ENST00000382292.3	37	CCDS9300.2																																																																																				0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3		NM_014363	
ZBED9	114821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	28543685	28543685	+	Missense_Mutation	SNP	T	T	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr6:28543685T>A	ENST00000452236.2	-	3	1414	c.797A>T	c.(796-798)gAa>gTa	p.E266V	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.E266V(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GTCAACTGATTCCTTTTTCGC	0.353																																																	1	Substitution - Missense(1)	kidney(1)											192.0	187.0	189.0					6																	28543685		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.797A>T	6.37:g.28543685T>A	ENSP00000395259:p.Glu266Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128817	0.56721	.	.	ENSG00000232040	ENST00000452236	T	0.01495	4.83	2.54	2.54	0.30619	.	.	.	.	.	T	0.00695	0.0023	N	0.19112	0.55	0.24055	N	0.996033	P	0.35383	0.498	B	0.40444	0.329	T	0.51403	-0.8710	9	0.56958	D	0.05	.	7.0144	0.24881	0.0:0.0:0.0:1.0	.	266	Q6R2W3	SCND3_HUMAN	V	266	ENSP00000395259:E266V	ENSP00000395259:E266V	E	-	2	0	SCAND3	28651664	0.651000	0.27340	0.998000	0.56505	0.994000	0.84299	1.244000	0.32778	1.419000	0.47118	0.477000	0.44152	GAA		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			
SCN1A	6323	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	166909391	166909391	+	Missense_Mutation	SNP	C	C	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:166909391C>A	ENST00000303395.4	-	5	664	c.665G>T	c.(664-666)cGa>cTa	p.R222L	SCN1A_ENST00000409050.1_Missense_Mutation_p.R222L|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R222L|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.R222L			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	222					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.R222L(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTTCAATGCTCGGAGAACTCT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											95.0	77.0	83.0					2																	166909391		2203	4300	6503	SO:0001583	missense	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.665G>T	2.37:g.166909391C>A	ENSP00000303540:p.Arg222Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.947077	0.92593	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.99619	-6.28;-6.28;-6.28;-6.28	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.53938	D	0.000050	D	0.99857	0.9933	H	0.99286	4.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.96647	0.9478	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	222;222;222	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	L	222	ENSP00000407030:R222L;ENSP00000303540:R222L;ENSP00000364554:R222L;ENSP00000386312:R222L	ENSP00000303540:R222L	R	-	2	0	SCN1A	166617637	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	7.726000	0.84824	2.885000	0.99019	0.655000	0.94253	CGA		0.453	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920	
SUGP1	57794	broad.mit.edu	37	19	19388598	19388598	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr19:19388598T>C	ENST00000247001.5	-	12	2073	c.1726A>G	c.(1726-1728)Aag>Gag	p.K576E		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	576	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.K576E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TCGCCCTCCTTCCAGCCCATC	0.582																																																	1	Substitution - Missense(1)	kidney(1)											118.0	95.0	103.0					19																	19388598		2203	4300	6503	SO:0001583	missense	0			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1726A>G	19.37:g.19388598T>C	ENSP00000247001:p.Lys576Glu	Somatic		WXS	Illumina GAIIx	Phase_I	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	ENST00000247001.5	37	CCDS12399.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.290490	0.80914	.	.	ENSG00000105705	ENST00000247001	T	0.38887	1.11	4.96	4.96	0.65561	D111/G-patch (3);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.51853	1.615	0.80722	D	1	P	0.52463	0.953	P	0.59012	0.85	T	0.55761	-0.8090	10	0.56958	D	0.05	.	13.7662	0.62997	0.0:0.0:0.0:1.0	.	576	Q8IWZ8	SUGP1_HUMAN	E	576	ENSP00000247001:K576E	ENSP00000247001:K576E	K	-	1	0	SUGP1	19249598	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.009000	0.70745	1.990000	0.58119	0.459000	0.35465	AAG		0.582	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460128.4		NM_021164	
SLC12A6	9990	broad.mit.edu;hgsc.bcm.edu	37	15	34546785	34546785	+	Silent	SNP	A	A	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr15:34546785A>G	ENST00000354181.3	-	9	1374	c.882T>C	c.(880-882)taT>taC	p.Y294Y	RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000558589.1_Silent_p.Y285Y|SLC12A6_ENST00000560164.1_Silent_p.Y106Y|SLC12A6_ENST00000560611.1_Silent_p.Y294Y|SLC12A6_ENST00000458406.2_Silent_p.Y235Y|SLC12A6_ENST00000451844.2_Silent_p.Y106Y|SLC12A6_ENST00000290209.5_Silent_p.Y243Y|SLC12A6_ENST00000397707.2_Silent_p.Y279Y|SLC12A6_ENST00000397702.2_Silent_p.Y235Y|SLC12A6_ENST00000558667.1_Silent_p.Y294Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	294					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.Y243Y(1)|p.Y285Y(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGGGGACGATATAGACCTGTT	0.393																																																	2	Substitution - coding silent(2)	kidney(2)											71.0	70.0	70.0					15																	34546785		2201	4298	6499	SO:0001819	synonymous_variant	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.882T>C	15.37:g.34546785A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Silent	SNP	ENST00000354181.3	37	CCDS58352.1																																																																																				0.393	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1		NM_005135	
SLC15A2	6565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	121659238	121659238	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr3:121659238C>G	ENST00000489711.1	+	21	2304	c.1916C>G	c.(1915-1917)tCt>tGt	p.S639C	SLC15A2_ENST00000295605.2_Missense_Mutation_p.S608C	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	639					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)	p.S639C(1)		NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAGGCTCCCTCTAGCATGAAA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											132.0	117.0	122.0					3																	121659238		2203	4300	6503	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1916C>G	3.37:g.121659238C>G	ENSP00000417085:p.Ser639Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620849	0.66787	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.46451	0.87;0.87	5.19	3.36	0.38483	.	0.542707	0.20739	N	0.086577	T	0.58133	0.2101	M	0.85197	2.74	0.31445	N	0.671461	D;D	0.67145	0.996;0.981	P;P	0.57776	0.827;0.76	T	0.65792	-0.6082	10	0.66056	D	0.02	-13.3594	7.147	0.25589	0.0:0.7307:0.0:0.2693	.	608;639	B4E2A7;Q16348	.;S15A2_HUMAN	C	639;601;608	ENSP00000417085:S639C;ENSP00000295605:S608C	ENSP00000295605:S608C	S	+	2	0	SLC15A2	123141928	0.016000	0.18221	0.998000	0.56505	0.965000	0.64279	1.010000	0.29898	1.414000	0.47017	0.563000	0.77884	TCT		0.498	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1		NM_021082	
SLC35D2	11046	hgsc.bcm.edu	37	9	99126831	99126831	+	Splice_Site	SNP	A	A	G	rs147633936		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:99126831A>G	ENST00000253270.7	-	3	256	c.194T>C	c.(193-195)aTg>aCg	p.M65T	SLC35D2_ENST00000375259.4_Splice_Site_p.M65T|SLC35D2_ENST00000482643.1_5'UTR|SLC35D2_ENST00000375257.1_Splice_Site_p.M65T	NM_007001.2	NP_008932.2	Q76EJ3	S35D2_HUMAN	solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2	65					carbohydrate derivative transport (GO:1901264)|carbohydrate metabolic process (GO:0005975)|carbohydrate transport (GO:0008643)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|nucleotide transmembrane transport (GO:1901679)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	nucleotide-sugar transmembrane transporter activity (GO:0005338)			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				GGTGGCTGCCATCTGAAGAAA	0.338																																																	0								A	THR/MET	1,4405	2.1+/-5.4	0,1,2202	97.0	105.0	103.0		194	4.7	1.0	9	dbSNP_134	103	0,8600		0,0,4300	no	missense-near-splice	SLC35D2	NM_007001.2	81	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging	65/338	99126831	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	11046			AB122077	CCDS6717.1, CCDS69625.1	9q22.33	2013-07-17	2013-07-17		ENSG00000130958	ENSG00000130958		"""Solute carriers"""	20799	protein-coding gene	gene with protein product		609182	"""solute carrier family 35, member D2"""			15607426	Standard	NM_007001		Approved	UGTrel8, SQV7L	uc004awc.3	Q76EJ3	OTTHUMG00000020293	ENST00000253270.7:c.193-1T>C	9.37:g.99126831A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O95454|Q498C1|Q75W21|Q7Z5X5	Missense_Mutation	SNP	ENST00000253270.7	37	CCDS6717.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230948	0.58777	2.27E-4	0.0	ENSG00000130958	ENST00000253270;ENST00000375259;ENST00000375257	T;T;T	0.68181	0.42;-0.27;-0.31	4.68	4.68	0.58851	.	0.043436	0.85682	D	0.000000	T	0.76807	0.4039	M	0.73962	2.25	0.43846	D	0.996436	D;P;P	0.53462	0.96;0.681;0.63	D;B;P	0.64144	0.922;0.295;0.459	T	0.74028	-0.3796	10	0.18276	T	0.48	.	11.7663	0.51933	1.0:0.0:0.0:0.0	.	65;65;65	Q76EJ3-2;Q5VZJ2;Q76EJ3	.;.;S35D2_HUMAN	T	65	ENSP00000253270:M65T;ENSP00000364408:M65T;ENSP00000364406:M65T	ENSP00000253270:M65T	M	-	2	0	SLC35D2	98166652	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.897000	0.63231	1.961000	0.56991	0.460000	0.39030	ATG		0.338	SLC35D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053261.1			Missense_Mutation
SLC5A2	6524	broad.mit.edu;hgsc.bcm.edu	37	16	31501699	31501699	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr16:31501699G>C	ENST00000330498.3	+	14	1881	c.1862G>C	c.(1861-1863)gGg>gCg	p.G621A	C16orf58_ENST00000570164.1_3'UTR|SLC5A2_ENST00000564197.1_Intron|C16orf58_ENST00000327237.2_3'UTR|AC026471.6_ENST00000565137.1_RNA|C16orf58_ENST00000567994.1_3'UTR	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	621					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)	p.G621A(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	AGCAGAGGTGGGGTGGGCAGT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											25.0	28.0	27.0					16																	31501699		2197	4300	6497	SO:0001583	missense	6524				CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1862G>C	16.37:g.31501699G>C	ENSP00000327943:p.Gly621Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRD2	Missense_Mutation	SNP	ENST00000330498.3	37	CCDS10714.1	.	.	.	.	.	.	.	.	.	.	G	4.173	0.030630	0.08101	.	.	ENSG00000140675	ENST00000330498	D	0.91521	-2.86	5.22	2.18	0.27775	.	0.582743	0.18257	N	0.146742	T	0.79155	0.4398	N	0.24115	0.695	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.60642	-0.7223	10	0.08179	T	0.78	.	6.8906	0.24226	0.2737:0.0:0.7263:0.0	.	621	P31639	SC5A2_HUMAN	A	621	ENSP00000327943:G621A	ENSP00000327943:G621A	G	+	2	0	SLC5A2	31409200	0.041000	0.20044	0.029000	0.17559	0.091000	0.18340	0.440000	0.21592	1.201000	0.43203	0.561000	0.74099	GGG		0.652	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2			
SMARCC2	6601	broad.mit.edu	37	12	56558430	56558430	+	Silent	SNP	A	A	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:56558430A>C	ENST00000267064.4	-	27	3311	c.3225T>G	c.(3223-3225)ggT>ggG	p.G1075G	SMARCC2_ENST00000394023.3_Splice_Site|SMARCC2_ENST00000347471.4_Splice_Site|SMARCC2_ENST00000550164.1_Silent_p.G1106G|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1075	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.G1075G(2)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGGAGCATTACCCGCCACGC	0.567																																																	2	Substitution - coding silent(2)	kidney(2)											57.0	53.0	55.0					12																	56558430		2203	4300	6503	SO:0001819	synonymous_variant	6601			U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3225T>G	12.37:g.56558430A>C		Somatic		WXS	Illumina GAIIx	Phase_I	F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Silent	SNP	ENST00000267064.4	37	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.841392	0.71488	.	.	ENSG00000139613	ENST00000394023;ENST00000347471	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7728	0.63036	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SMARCC2	54844697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.668000	0.68074	2.045000	0.60652	0.455000	0.32223	.		0.567	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			
SNX10	29887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	26411530	26411530	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr7:26411530delT	ENST00000338523.4	+	6	588	c.401delT	c.(400-402)gttfs	p.V134fs	SNX10_ENST00000462993.1_3'UTR|SNX10_ENST00000409367.1_Frame_Shift_Del_p.V94fs|SNX10_ENST00000409838.1_Frame_Shift_Del_p.V50fs|SNX10_ENST00000396376.1_Frame_Shift_Del_p.V134fs|AC004540.4_ENST00000451368.1_RNA|AC004540.4_ENST00000451264.1_RNA|SNX10_ENST00000446848.2_Frame_Shift_Del_p.V160fs	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	134					cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GAGGCGTGTGTTTCTGGGCAG	0.388																																																	0													128.0	123.0	125.0					7																	26411530		2203	4300	6503	SO:0001589	frameshift_variant	29887			AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.401delT	7.37:g.26411530delT	ENSP00000343709:p.Val134fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PFH5|Q8IYT5	Frame_Shift_Del	DEL	ENST00000338523.4	37	CCDS5399.1																																																																																				0.388	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			
SYT10	341359	hgsc.bcm.edu	37	12	33579216	33579217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr12:33579216_33579217insG	ENST00000228567.3	-	2	661_662	c.365_366insC	c.(364-366)ccafs	p.P122fs	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	122					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CTTTTACGGCTGGCTTTTCATT	0.391																																																	0																																										SO:0001589	frameshift_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.366dupC	12.37:g.33579218_33579218dupG	ENSP00000228567:p.Pro122fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q495U2	Frame_Shift_Ins	INS	ENST00000228567.3	37	CCDS8732.1																																																																																				0.391	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1		NM_198992	
TAAR9	134860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	132859640	132859640	+	RNA	SNP	T	T	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr6:132859640T>A	ENST00000434551.1	+	0	212					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)						G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		AACTTTCTGATTGCGTCGCTG	0.507																																					Colon(10;433 445 15992 45047 47213)												0													170.0	166.0	167.0					6																	132859640		2170	4282	6452			134860			AF380189	CCDS75520.1	6q23.2	2013-10-02	2010-03-12	2005-02-24	ENSG00000237110	ENSG00000237110		"""GPCR / Class A : Trace amine associated receptors"""	20977	protein-coding gene	gene with protein product		608282	"""trace amine receptor 3"", ""trace amine associated receptor 9"""	TRAR3		15718104	Standard	NM_175057		Approved	TA3, TAR3	uc011eci.2	Q96RI9	OTTHUMG00000015578		6.37:g.132859640T>A		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000434551.1	37																																																																																					0.507	TAAR9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000042254.2		NM_175057	
TBC1D9	23158	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	141600356	141600356	+	Splice_Site	SNP	C	C	T	rs201813694		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr4:141600356C>T	ENST00000442267.2	-	5	665	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	197	GRAM 1.						calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.A197A(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGACCAGTTTCGCTGAGCACA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18189	0.0		0.001	False		,,,				2504	0.0																2	Substitution - coding silent(2)	kidney(2)						C		0,4080		0,0,2040	103.0	100.0	101.0		591	2.8	1.0	4		101	4,8386		0,4,4191	yes	coding-synonymous-near-splice	TBC1D9	NM_015130.2		0,4,6231	TT,TC,CC		0.0477,0.0,0.0321		197/1267	141600356	4,12466	2040	4195	6235	SO:0001630	splice_region_variant	23158			AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.590-1G>A	4.37:g.141600356C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8U8|D3DNZ1|O94958	Silent	SNP	ENST00000442267.2	37	CCDS47136.1																																																																																				0.512	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364806.1		NM_015130	Silent
TCEAL8	90843	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	102508844	102508844	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chrX:102508844G>A	ENST00000372685.3	-	3	300	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C	TCEAL8_ENST00000360000.4_Missense_Mutation_p.R22C	NM_153333.2	NP_699164.1	Q8IYN2	TCAL8_HUMAN	transcription elongation factor A (SII)-like 8	22					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.R22C(1)		kidney(2)|lung(1)|ovary(1)	4						TCCAAAGGGCGATCTTCCTCG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											188.0	167.0	174.0					X																	102508844		2203	4300	6503	SO:0001583	missense	90843			AL833632	CCDS14504.1	Xq22.1	2014-03-21			ENSG00000180964	ENSG00000180964			28683	protein-coding gene	gene with protein product						16221301	Standard	NM_001006684		Approved	MGC45400, WEX3	uc004ejy.3	Q8IYN2	OTTHUMG00000022094	ENST00000372685.3:c.64C>T	X.37:g.102508844G>A	ENSP00000361770:p.Arg22Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000372685.3	37	CCDS14504.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585595	0.46110	.	.	ENSG00000180964	ENST00000360000;ENST00000372685;ENST00000451678	T;T	0.10192	2.9;2.9	4.52	3.64	0.41730	.	0.538057	0.16403	N	0.215930	T	0.09774	0.0240	L	0.29908	0.895	0.20403	N	0.999904	D	0.53312	0.959	B	0.44044	0.439	T	0.13629	-1.0502	10	0.66056	D	0.02	-0.1709	9.3603	0.38192	0.0:0.2115:0.7885:0.0	.	22	Q8IYN2	TCAL8_HUMAN	C	22	ENSP00000353093:R22C;ENSP00000361770:R22C	ENSP00000353093:R22C	R	-	1	0	TCEAL8	102395500	0.984000	0.35163	0.401000	0.26359	0.794000	0.44872	2.156000	0.42310	1.220000	0.43490	0.600000	0.82982	CGC		0.443	TCEAL8-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057698.1		NM_153333	
TMEM38B	55151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	108483903	108483903	+	Missense_Mutation	SNP	G	G	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:108483903G>C	ENST00000374692.3	+	3	472	c.355G>C	c.(355-357)Gaa>Caa	p.E119Q	TMEM38B_ENST00000374688.1_Missense_Mutation_p.E65Q	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	119						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)	p.E119Q(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GGGAATGAAGGAAGTGACCAG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											95.0	88.0	90.0					9																	108483903		2203	4300	6503	SO:0001583	missense	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.355G>C	9.37:g.108483903G>C	ENSP00000363824:p.Glu119Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Missense_Mutation	SNP	ENST00000374692.3	37	CCDS6768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.810746|4.810746	0.90707|0.90707	.|.	.|.	ENSG00000095209|ENSG00000095209	ENST00000374692;ENST00000374688|ENST00000435034	T;T|.	0.60040|.	0.51;0.22|.	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	0.047470|.	0.85682|.	D|.	0.000000|.	T|T	0.79209|0.79209	0.4407|0.4407	M|M	0.82056|0.82056	2.57|2.57	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68039|.	0.955|.	T|T	0.79200|0.79200	-0.1901|-0.1901	10|5	0.72032|.	D|.	0.01|.	-16.2888|-16.2888	18.9027|18.9027	0.92449|0.92449	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	119|.	Q9NVV0|.	TM38B_HUMAN|.	Q|S	119;65|55	ENSP00000363824:E119Q;ENSP00000363820:E65Q|.	ENSP00000363820:E65Q|.	E|R	+|+	1|3	0|2	TMEM38B|TMEM38B	107523724|107523724	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	8.885000|8.885000	0.92439|0.92439	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	GAA|AGG		0.418	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053517.1		NM_018112	
UNC5CL	222643	broad.mit.edu	37	6	41001862	41001862	+	Silent	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr6:41001862C>T	ENST00000373164.1	-	2	504	c.444G>A	c.(442-444)tcG>tcA	p.S148S	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Silent_p.S148S			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	148	ZU5. {ECO:0000255|PROSITE- ProRule:PRU00485}.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)	p.S148S(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATGGGGCGTCCGACAGGTCCC	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	31.0	30.0					6																	41001862		2203	4299	6502	SO:0001819	synonymous_variant	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.444G>A	6.37:g.41001862C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q5TGU1	Silent	SNP	ENST00000373164.1	37	CCDS4847.1																																																																																				0.657	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040491.1		NM_173561	
MIR4477B	100616194	broad.mit.edu	37	9	68414561	68414561	+	RNA	SNP	T	T	G	rs111423473		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:68414561T>G	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		catctgttaatagcatggttt	0.363																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68414561T>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000581659.1	37																																																																																					0.363	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
PLEKHD1	400224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	69989009	69989009	+	Missense_Mutation	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr14:69989009C>T	ENST00000322564.7	+	7	777	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	189								p.R19C(1)|p.R189C(1)		breast(1)|endometrium(1)|kidney(2)	4						GGAGCTTGAGCGCCTTAACCA	0.582																																																	2	Substitution - Missense(2)	kidney(2)											130.0	124.0	126.0					14																	69989009		692	1591	2283	SO:0001583	missense	0			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.565C>T	14.37:g.69989009C>T	ENSP00000317175:p.Arg189Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B9EJC2	Missense_Mutation	SNP	ENST00000322564.7	37	CCDS53903.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.226861	0.79576	.	.	ENSG00000175985	ENST00000322564	.	.	.	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000001	T	0.65954	0.2741	L	0.36672	1.1	0.58432	D	0.999991	D	0.89917	1.0	D	0.75020	0.985	T	0.62746	-0.6789	8	.	.	.	-12.625	14.4055	0.67079	0.1475:0.8524:0.0:0.0	.	189	B9EJC2	.	C	189	.	.	R	+	1	0	PLEKHD1	69058762	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.061000	0.49963	2.641000	0.89580	0.561000	0.74099	CGC		0.582	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412451.2		NM_001161498	
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61522139	61522139	+	Missense_Mutation	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr2:61522139G>A	ENST00000398571.2	-	32	4482	c.4406C>T	c.(4405-4407)tCa>tTa	p.S1469L		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1469					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S1469L(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGAATCATCTGAATCTGGATA	0.308																																																	1	Substitution - Missense(1)	kidney(1)											69.0	65.0	66.0					2																	61522139		1823	4075	5898	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4406C>T	2.37:g.61522139G>A	ENSP00000381577:p.Ser1469Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846915	0.71603	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.03920	3.76	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	L	0.48642	1.525	0.58432	D	0.999996	B	0.25667	0.131	B	0.22386	0.039	T	0.37979	-0.9682	10	0.22109	T	0.4	.	18.0661	0.89391	0.0:0.0:1.0:0.0	.	1469	Q70CQ2	UBP34_HUMAN	L	1317;1317;1469	ENSP00000381577:S1469L	ENSP00000263989:S1317L	S	-	2	0	USP34	61375643	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.928000	0.87587	2.507000	0.84556	0.650000	0.86243	TCA		0.308	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10191491	10191491	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr3:10191491T>C	ENST00000256474.2	+	3	1324	c.484T>C	c.(484-486)Tgc>Cgc	p.C162R	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Missense_Mutation_p.C121R	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	162	Interaction with Elongin BC complex.		C -> F (in VHLD; type I; No effect on interaction with HIF1A nor on HIF1A degradation). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9452032, ECO:0000269|PubMed:9829911}.|C -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|C -> W (in VHLD; type I-II; dbSNP:rs5030622). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|C -> Y (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.C162R(4)|p.C162fs*12(1)|p.L158fs*6(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)		GAAAGAGCGATGCCTCCAGGT	0.502		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"""	6	Substitution - Missense(4)|Deletion - Frameshift(1)|Insertion - Frameshift(1)	kidney(6)	GRCh37	CM951294	VHL	M							95.0	86.0	89.0					3																	10191491		2203	4300	6503	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.484T>C	3.37:g.10191491T>C	ENSP00000256474:p.Cys162Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	18.19	3.568513	0.65651	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.99830	-7.01;-7.01	4.86	4.86	0.63082	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.108704	0.64402	D	0.000008	D	0.99697	0.9885	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.78314	0.961;0.991	D	0.97089	0.9789	10	0.87932	D	0	-7.1517	12.7224	0.57149	0.0:0.0:0.0:1.0	.	121;162	P40337-2;P40337	.;VHL_HUMAN	R	162;121;80	ENSP00000256474:C162R;ENSP00000344757:C121R	ENSP00000256474:C162R	C	+	1	0	VHL	10166491	1.000000	0.71417	0.953000	0.39169	0.908000	0.53690	3.943000	0.56621	2.162000	0.67917	0.533000	0.62120	TGC		0.502	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZCCHC6	79670	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88938408	88938408	+	Missense_Mutation	SNP	C	C	G			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:88938408C>G	ENST00000375963.3	-	13	2429	c.2257G>C	c.(2257-2259)Gag>Cag	p.E753Q	ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.E753Q|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.E630Q|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.E42Q	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	753					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.E753Q(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCAACTTTCTCTTTCTCGTTT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											277.0	246.0	256.0					9																	88938408		2203	4300	6503	SO:0001583	missense	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2257G>C	9.37:g.88938408C>G	ENSP00000365130:p.Glu753Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.003834	0.54254	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.59638	0.25;0.61;0.7;0.71	4.42	0.144	0.14824	.	1.312490	0.04889	N	0.449231	T	0.40595	0.1123	L	0.27053	0.805	0.09310	N	1	B;B	0.33238	0.403;0.18	B;B	0.28849	0.087;0.095	T	0.27806	-1.0063	10	0.48119	T	0.1	-19.795	3.798	0.08747	0.3086:0.4038:0.0:0.2876	.	630;753	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	Q	42;630;753;753	ENSP00000277141:E42Q;ENSP00000365127:E630Q;ENSP00000365128:E753Q;ENSP00000365130:E753Q	ENSP00000277141:E42Q	E	-	1	0	ZCCHC6	88128228	0.586000	0.26782	0.004000	0.12327	0.293000	0.27360	1.209000	0.32357	-0.076000	0.12775	0.650000	0.86243	GAG		0.438	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1		NM_024617	
ZFHX4	79776	broad.mit.edu	37	8	77761277	77761277	+	Silent	SNP	T	T	G	rs369967172		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr8:77761277T>G	ENST00000521891.2	+	7	4006	c.3558T>G	c.(3556-3558)ggT>ggG	p.G1186G	ZFHX4_ENST00000050961.6_Silent_p.G1141G|ZFHX4_ENST00000518282.1_Silent_p.G1160G|ZFHX4_ENST00000455469.2_Silent_p.G1141G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1141					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G1186G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGCAGGGGGTACCCAGCCAC	0.383										HNSCC(33;0.089)																																							1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3558T>G	8.37:g.77761277T>G		Somatic		WXS	Illumina GAIIx	Phase_I	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.383	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721	
ZFHX4	79776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	77776702	77776702	+	Silent	SNP	G	G	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr8:77776702G>A	ENST00000521891.2	+	11	11200	c.10752G>A	c.(10750-10752)aaG>aaA	p.K3584K	ZFHX4_ENST00000050961.6_Silent_p.K3535K|ZFHX4_ENST00000518282.1_Silent_p.K3558K|ZFHX4_ENST00000455469.2_Silent_p.K3539K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3535					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.K3568K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGAGCCAGAAGCTAGAAGACT	0.453										HNSCC(33;0.089)																																							1	Substitution - coding silent(1)	kidney(1)											59.0	58.0	59.0					8																	77776702		2027	4207	6234	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.10752G>A	8.37:g.77776702G>A		Somatic		WXS	Illumina HiSeq	Phase_I	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.453	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721	
ZNF189	7743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	104162271	104162271	+	Missense_Mutation	SNP	T	T	C			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr9:104162271T>C	ENST00000339664.2	+	2	268	c.139T>C	c.(139-141)Tat>Cat	p.Y47H	MRPL50_ENST00000374865.4_5'Flank|ZNF189_ENST00000259395.4_Missense_Mutation_p.Y5H|MRPL50_ENST00000539624.1_5'Flank|ZNF189_ENST00000374861.3_Missense_Mutation_p.Y33H	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	47	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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.Y47H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GATGGAGAATTATGGAAACCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											126.0	127.0	127.0					9																	104162271		2203	4300	6503	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.139T>C	9.37:g.104162271T>C	ENSP00000342019:p.Tyr47His	Somatic		WXS	Illumina HiSeq	Phase_I	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	T	19.40	3.819847	0.71028	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.07800	4.27;4.27;3.16	4.79	4.79	0.61399	Krueppel-associated box (4);	0.191487	0.25958	N	0.027201	T	0.28830	0.0715	M	0.90759	3.145	0.31294	N	0.689039	P;P;D	0.63046	0.832;0.881;0.992	P;B;P	0.57204	0.546;0.275;0.815	T	0.45862	-0.9232	10	0.56958	D	0.05	.	12.5863	0.56419	0.0:0.0:0.0:1.0	.	32;33;47	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	H	33;47;5	ENSP00000363995:Y33H;ENSP00000342019:Y47H;ENSP00000259395:Y5H	ENSP00000259395:Y5H	Y	+	1	0	ZNF189	103202092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.061000	0.57485	2.143000	0.66587	0.528000	0.53228	TAT		0.413	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1		NM_003452	
ZNF300	91975	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	150276178	150276179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr5:150276178_150276179insA	ENST00000274599.5	-	6	1042_1043	c.622_623insT	c.(622-624)tcafs	p.S208fs	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Frame_Shift_Ins_p.S208fs|ZNF300_ENST00000446148.2_Frame_Shift_Ins_p.S224fs|ZNF300_ENST00000418587.2_Frame_Shift_Ins_p.S172fs	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	208					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTTTTTCTTGAATTGCTCTTA	0.327																																																	0																																										SO:0001589	frameshift_variant	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.623dupT	5.37:g.150276180_150276180dupA	ENSP00000274599:p.Ser208fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Frame_Shift_Ins	INS	ENST00000274599.5	37	CCDS4311.2																																																																																				0.327	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_052860	
ZNF761	388561	broad.mit.edu;hgsc.bcm.edu	37	19	53959771	53959771	+	RNA	SNP	C	C	T			TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr19:53959771C>T	ENST00000454407.1	+	0	2463							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T616T(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTGGCAAGACCTTTAGTCGGA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	93.0	91.0					19																	53959771		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959771C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZNB9	Missense_Mutation	SNP	ENST00000454407.1	37																																																																																					0.378	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript			NM_001008401	
ZNF853	54753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6661158	6661158	+	Missense_Mutation	SNP	C	C	T	rs572290256		TCGA-B8-5549-01A-01D-1534-10	TCGA-B8-5549-10A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a62a0016-8cbe-4ed0-8836-21c72006d82a	a2bcbda0-dba7-456a-aeca-0465519917de	g.chr7:6661158C>T	ENST00000457543.3	+	3	1094	c.536C>T	c.(535-537)aCg>aTg	p.T179M		NM_017560.1	NP_060030.1	P0CG23	ZN853_HUMAN	zinc finger protein 853	179	Gln-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.T179M(2)		endometrium(1)|kidney(1)	2						cagttacagacgcagcaagca	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		24472	0.001		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	kidney(2)											98.0	101.0	100.0					7																	6661158		692	1591	2283	SO:0001583	missense	54753			AL133055	CCDS59048.1	7p22.1	2013-01-08				ENSG00000236609		"""Zinc fingers, C2H2-type"""	21767	protein-coding gene	gene with protein product							Standard	NM_017560		Approved	DKFZp434J1015	uc011jwz.2	P0CG23		ENST00000457543.3:c.536C>T	7.37:g.6661158C>T	ENSP00000455585:p.Thr179Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000457543.3	37	CCDS59048.1																																																																																				0.522	ZNF853-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324169.2		NM_017560	
