#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TranscriptID	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_dbSNPPopFreq	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_refseq_mrna_id	i_secondary_variant_classification
ABCB4	5244	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	87051459	87051459	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr7:87051459G>A	ENST00000265723.4	-	18	2405	c.2294C>T	c.(2293-2295)tCt>tTt	p.S765F	ABCB4_ENST00000359206.3_Missense_Mutation_p.S765F|ABCB4_ENST00000545634.1_Missense_Mutation_p.S765F|ABCB4_ENST00000453593.1_Missense_Mutation_p.S765F|ABCB4_ENST00000358400.3_Missense_Mutation_p.S765F	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	765	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	AGTAAAAAAAGAAATAATTCC	0.318																																					p.S765F		.											.	ABCB4	96	0			c.C2294T						.						43.0	45.0	45.0					7																	87051459		2203	4300	6503	SO:0001583	missense	5244	exon18			AAAAAAGAAATAA	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.2294C>T	7.37:g.87051459G>A	ENSP00000265723:p.Ser765Phe	195.0	0.0		274.0	64.0	NM_018850	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.529316	0.85706	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.99	5.99	0.97316	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.053448	0.85682	D	0.000000	D	0.94843	0.8334	M	0.82517	2.595	0.80722	D	1	B;D;D	0.61697	0.357;0.987;0.99	B;D;D	0.70935	0.301;0.952;0.971	D	0.94818	0.7984	10	0.72032	D	0.01	-16.5265	18.2507	0.90002	0.0:0.0:1.0:0.0	.	765;765;765	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	F	765	ENSP00000352135:S765F;ENSP00000351172:S765F;ENSP00000265723:S765F;ENSP00000392983:S765F;ENSP00000437465:S765F	ENSP00000265723:S765F	S	-	2	0	ABCB4	86889395	1.000000	0.71417	0.972000	0.41901	0.987000	0.75469	6.605000	0.74155	2.840000	0.97914	0.655000	0.94253	TCT	.		0.318	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
ABCB7	22	ucsc.edu;bcgsc.ca	37	X	74288850	74288850	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chrX:74288850C>A	ENST00000373394.3	-	12	1658	c.1651G>T	c.(1651-1653)Gta>Tta	p.V551L	ABCB7_ENST00000253577.3_Missense_Mutation_p.V552L|ABCB7_ENST00000339447.4_Missense_Mutation_p.V511L|ABCB7_ENST00000534570.1_5'UTR			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	551	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						ACCTGAGGTACCACTCCCACT	0.383																																					p.V552L		.											.	ABCB7	131	0			c.G1654T						.						117.0	108.0	111.0					X																	74288850		2203	4300	6503	SO:0001583	missense	22	exon12			GAGGTACCACTCC	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1651G>T	X.37:g.74288850C>A	ENSP00000362492:p.Val551Leu	39.0	0.0		31.0	4.0	NM_004299	G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	C	21.3	4.131828	0.77662	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25	5.1	4.24	0.50183	ABC transporter, transmembrane domain, type 1 (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.057551	0.64402	D	0.000002	D	0.95095	0.8411	M	0.72353	2.195	0.80722	D	1	D;D;D;D;D	0.63046	0.991;0.96;0.983;0.981;0.992	P;P;P;P;P	0.59703	0.704;0.504;0.862;0.804;0.784	D	0.94719	0.7899	10	0.87932	D	0	-23.0316	11.5561	0.50748	0.0:0.9118:0.0:0.0882	.	525;511;552;551;552	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	L	525;552;511;551;525	ENSP00000253577:V552L;ENSP00000343849:V511L;ENSP00000362492:V551L;ENSP00000436586:V525L	ENSP00000253577:V552L	V	-	1	0	ABCB7	74205575	1.000000	0.71417	0.935000	0.37517	0.990000	0.78478	4.431000	0.59915	0.941000	0.37499	0.523000	0.50628	GTA	.		0.383	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
ABCG8	64241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	44099245	44099245	+	Silent	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:44099245G>T	ENST00000272286.2	+	7	1185	c.1095G>T	c.(1093-1095)acG>acT	p.T365T		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	365					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	AAGCAGAGACGAAGGATCTTG	0.552																																					p.T365T		.											.	ABCG8	94	0			c.G1095T						.						119.0	116.0	117.0					2																	44099245		2203	4300	6503	SO:0001819	synonymous_variant	64241	exon7			AGAGACGAAGGAT	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1095G>T	2.37:g.44099245G>T		61.0	0.0		75.0	31.0	NM_022437	Q53QN8	Silent	SNP	ENST00000272286.2	37	CCDS1815.1																																																																																			.		0.552	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437	
ADAMTS9	56999	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	64582656	64582656	+	Silent	SNP	G	G	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr3:64582656G>C	ENST00000498707.1	-	27	4371	c.4029C>G	c.(4027-4029)acC>acG	p.T1343T	ADAMTS9_ENST00000295903.4_Silent_p.T1315T	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1343	TSP type-1 9. {ECO:0000255|PROSITE- ProRule:PRU00210}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGCCAGCACAGGTACTGGAAC	0.468																																					p.T1343T		.											.	ADAMTS9	230	0			c.C4029G						.						95.0	92.0	93.0					3																	64582656		2203	4300	6503	SO:0001819	synonymous_variant	56999	exon27			AGCACAGGTACTG	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.4029C>G	3.37:g.64582656G>C		72.0	0.0		60.0	33.0	NM_182920	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	ENST00000498707.1	37	CCDS2903.1	.	.	.	.	.	.	.	.	.	.	G	9.122	1.009253	0.19277	.	.	ENSG00000163638	ENST00000481060	.	.	.	5.4	1.43	0.22495	.	.	.	.	.	T	0.46658	0.1404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33266	-0.9875	4	.	.	.	.	4.4167	0.11459	0.0737:0.1726:0.4512:0.3025	.	.	.	.	R	399	.	.	P	-	2	0	ADAMTS9	64557696	0.743000	0.28239	1.000000	0.80357	0.994000	0.84299	-0.209000	0.09358	0.820000	0.34516	0.591000	0.81541	CCT	.		0.468	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351891.1		
ALB	213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	74279198	74279198	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:74279198G>T	ENST00000503124.1	+	6	662	c.455G>T	c.(454-456)tGc>tTc	p.C152F	ALB_ENST00000295897.4_Missense_Mutation_p.C302F|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.C187F|ALB_ENST00000509063.1_Missense_Mutation_p.C302F|ALB_ENST00000415165.2_Missense_Mutation_p.C110F			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGAAGGAATGCTGTGAAAAA	0.408																																					p.C302F		.											.	ALB	96	0			c.G905T						.						120.0	115.0	117.0					4																	74279198		2203	4300	6503	SO:0001583	missense	213	exon8			AGGAATGCTGTGA	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.455G>T	4.37:g.74279198G>T	ENSP00000421027:p.Cys152Phe	62.0	0.0		69.0	30.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.993248|3.993248	0.74703|0.74703	.|.	.|.	ENSG00000163631|ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202|ENST00000511370	D;D;D;D;D|.	0.99637|.	-6.29;-6.29;-6.29;-6.29;-6.29|.	5.98|5.98	5.98|5.98	0.97165|0.97165	Serum albumin-like (1);Serum albumin, N-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87204|0.87204	0.6119|0.6119	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0|.	D|D	0.89545|0.89545	0.3795|0.3795	10|5	0.87932|.	D|.	0|.	-14.7984|-14.7984	19.0219|19.0219	0.92919|0.92919	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	187;110;152;302;302|.	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768|.	.;.;.;.;ALBU_HUMAN|.	F|I	302;110;152;302;187;311|146	ENSP00000295897:C302F;ENSP00000401820:C110F;ENSP00000421027:C152F;ENSP00000422784:C302F;ENSP00000384695:C187F|.	ENSP00000295897:C302F|.	C|M	+|+	2|3	0|0	ALB|ALB	74498062|74498062	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.775000|0.775000	0.43874|0.43874	6.394000|6.394000	0.73223|0.73223	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	TGC|ATG	.		0.408	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
AMBRA1	55626	ucsc.edu;bcgsc.ca	37	11	46455063	46455063	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:46455063G>T	ENST00000458649.2	-	14	3355	c.2937C>A	c.(2935-2937)ttC>ttA	p.F979L	AMBRA1_ENST00000528950.1_Missense_Mutation_p.F950L|AMBRA1_ENST00000298834.3_Missense_Mutation_p.F919L|AMBRA1_ENST00000534300.1_Missense_Mutation_p.F919L|AMBRA1_ENST00000533727.1_Missense_Mutation_p.F860L|AMBRA1_ENST00000314845.3_Missense_Mutation_p.F889L|AMBRA1_ENST00000426438.1_Missense_Mutation_p.F950L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	979					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGCAGCCTGAAGACCTGGG	0.587																																					p.F982L		.											.	AMBRA1	136	0			c.C2946A						.						83.0	68.0	73.0					11																	46455063		2201	4299	6500	SO:0001583	missense	55626	exon16			CAGCCTGAAGACC	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.2937C>A	11.37:g.46455063G>T	ENSP00000415327:p.Phe979Leu	40.0	0.0		26.0	4.0	NM_001267782	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	ENST00000458649.2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.283308	0.95489	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56;3.56;3.56	6.06	6.06	0.98353	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	L	0.42245	1.32	0.54753	D	0.999983	D;D;D;D;D;D	0.71674	0.982;0.998;0.998;0.99;0.99;0.99	D;D;D;D;D;D	0.76071	0.952;0.987;0.987;0.979;0.979;0.979	T	0.00029	-1.2292	10	0.54805	T	0.06	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	979;950;919;860;982;889	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	L	889;860;919;950;919;979;950	ENSP00000318313:F889L;ENSP00000433372:F860L;ENSP00000431926:F919L;ENSP00000410899:F950L;ENSP00000298834:F919L;ENSP00000415327:F979L;ENSP00000433945:F950L	ENSP00000298834:F919L	F	-	3	2	AMBRA1	46411639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.633000	0.74286	2.882000	0.98803	0.655000	0.94253	TTC	.		0.587	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1	NM_017749	
ALDH3B2	222	ucsc.edu;bcgsc.ca	37	11	67433076	67433076	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:67433076T>C	ENST00000349015.3	-	7	824	c.386A>G	c.(385-387)gAg>gGg	p.E129G	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.E129G|ALDH3B2_ENST00000531881.1_5'Flank	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	129					alcohol metabolic process (GO:0006066)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)		3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18						GCCCCCCAGCTCCAGGGTGAC	0.637																																					p.E129G		.											.	ALDH3B2	226	0			c.A386G						.						128.0	139.0	135.0					11																	67433076		2200	4294	6494	SO:0001583	missense	222	exon7			CCCAGCTCCAGGG	U37519	CCDS31622.1	11q13.2	2014-09-04			ENSG00000132746	ENSG00000132746	1.2.1.5	"""Aldehyde dehydrogenases"""	411	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 8"", ""acetaldehyde dehydrogenase 8"""	601917		ALDH8		8890755, 9161417	Standard	NM_000695		Approved		uc001oms.3	P48448	OTTHUMG00000167284	ENST00000349015.3:c.386A>G	11.37:g.67433076T>C	ENSP00000255084:p.Glu129Gly	58.0	0.0		44.0	5.0	NM_001031615	Q53Y98|Q8NAL5|Q96IB2	Missense_Mutation	SNP	ENST00000349015.3	37	CCDS31622.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.877055	0.72180	.	.	ENSG00000132746	ENST00000530069;ENST00000349015;ENST00000525827	D;D;D	0.88741	-2.42;-2.42;-2.42	4.16	4.16	0.48862	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	H	0.99299	4.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97889	1.0296	10	0.87932	D	0	.	13.2967	0.60301	0.0:0.0:0.0:1.0	.	14;129	B4DSX1;P48448	.;AL3B2_HUMAN	G	129	ENSP00000431595:E129G;ENSP00000255084:E129G;ENSP00000433718:E129G	ENSP00000255084:E129G	E	-	2	0	ALDH3B2	67189652	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	5.868000	0.69605	1.865000	0.54081	0.379000	0.24179	GAG	.		0.637	ALDH3B2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394004.1	NM_000695	
ANKRD17	26057	ucsc.edu;bcgsc.ca	37	4	73981584	73981584	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:73981584G>A	ENST00000358602.4	-	23	4354	c.4238C>T	c.(4237-4239)cCa>cTa	p.P1413L	ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1300L|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1162L	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1413					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGAATCTGATGGAAACTGATT	0.358																																					p.P1413L		.											.	ANKRD17	234	0			c.C4238T						.						225.0	212.0	217.0					4																	73981584		2203	4300	6503	SO:0001583	missense	26057	exon23			TCTGATGGAAACT	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.4238C>T	4.37:g.73981584G>A	ENSP00000351416:p.Pro1413Leu	40.0	0.0		45.0	4.0	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	34	5.340967	0.95783	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.70282	-0.47;-0.4;-0.45	6.03	6.03	0.97812	.	0.000000	0.64402	D	0.000003	T	0.80281	0.4594	L	0.38531	1.155	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.993	D;D;D;D;P	0.91635	0.992;0.999;0.999;0.999;0.824	T	0.80144	-0.1505	10	0.66056	D	0.02	.	20.5752	0.99366	0.0:0.0:1.0:0.0	.	934;1412;1162;1413;1300	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	L	1413;1162;1300	ENSP00000351416:P1413L;ENSP00000332265:P1162L;ENSP00000427151:P1300L	ENSP00000332265:P1162L	P	-	2	0	ANKRD17	74200448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.868000	0.98415	0.557000	0.71058	CCA	.		0.358	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ANKRD17	26057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	73990633	73990633	+	Silent	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:73990633C>T	ENST00000358602.4	-	18	3605	c.3489G>A	c.(3487-3489)caG>caA	p.Q1163Q	ANKRD17_ENST00000509867.2_Silent_p.Q1050Q|ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000330838.6_Silent_p.Q912Q	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1163				Q -> P (in Ref. 1; AAG48253). {ECO:0000305}.	blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACATTACCTCCTGTCTTCCCC	0.408																																					p.Q1163Q		.											.	ANKRD17	234	0			c.G3489A						.						119.0	110.0	113.0					4																	73990633		2203	4300	6503	SO:0001819	synonymous_variant	26057	exon18			TACCTCCTGTCTT	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3489G>A	4.37:g.73990633C>T		57.0	0.0		45.0	18.0	NM_032217	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Silent	SNP	ENST00000358602.4	37	CCDS34004.1																																																																																			.		0.408	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
ANXA3	306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	79494388	79494388	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:79494388G>T	ENST00000264908.6	+	3	449	c.70G>T	c.(70-72)Gct>Tct	p.A24S	ANXA3_ENST00000503570.2_5'UTR|ANXA3_ENST00000512884.1_Intron	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	24					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						ATCAGTGGATGCTGAAGCTAT	0.373																																					p.A24S	GBM(2;126 157 27790 28920 42492)	.											.	ANXA3	90	0			c.G70T						.						117.0	110.0	112.0					4																	79494388		2203	4300	6503	SO:0001583	missense	306	exon3			GTGGATGCTGAAG	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.70G>T	4.37:g.79494388G>T	ENSP00000264908:p.Ala24Ser	43.0	0.0		27.0	13.0	NM_005139	B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	37	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572749	0.65765	.	.	ENSG00000138772	ENST00000264908;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T	0.09073	3.02;3.02;3.02;3.02	4.89	4.89	0.63831	.	0.057085	0.64402	D	0.000002	T	0.33789	0.0875	M	0.85859	2.78	0.80722	D	1	D	0.60575	0.988	D	0.75020	0.985	T	0.13683	-1.0500	10	0.72032	D	0.01	.	17.3412	0.87297	0.0:0.0:1.0:0.0	.	24	P12429	ANXA3_HUMAN	S	24	ENSP00000264908:A24S;ENSP00000424584:A24S;ENSP00000421512:A24S;ENSP00000422281:A24S	ENSP00000264908:A24S	A	+	1	0	ANXA3	79713412	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	5.386000	0.66238	2.689000	0.91719	0.591000	0.81541	GCT	.		0.373	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139	
ARHGEF4	50649	ucsc.edu;bcgsc.ca	37	2	131673441	131673441	+	5'Flank	SNP	T	T	C	rs561699746		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:131673441T>C	ENST00000326016.5	+	0	0				ARHGEF4_ENST00000409359.1_Missense_Mutation_p.L311P|ARHGEF4_ENST00000428230.2_5'Flank|ARHGEF4_ENST00000392953.3_5'Flank|ARHGEF4_ENST00000525839.1_5'Flank	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4						apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CAGAAAGGTCTTCAGGCCAGC	0.647																																					.		.											.	ARHGEF4	292	0			.						.																																			SO:0001631	upstream_gene_variant	50649	.			AAGGTCTTCAGGC	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657		2.37:g.131673441T>C	Exception_encountered	46.0	0.0		43.0	5.0	.	Q9HDC6|Q9UPP0	Missense_Mutation	SNP	ENST00000326016.5	37	CCDS2165.1	.	.	.	.	.	.	.	.	.	.	T	5.937	0.356977	0.11239	.	.	ENSG00000136002	ENST00000409359	T	0.67698	-0.28	4.68	-1.08	0.09936	.	.	.	.	.	T	0.69780	0.3149	.	.	.	0.09310	N	1	D	0.76494	0.999	D	0.64237	0.923	T	0.57837	-0.7742	7	.	.	.	.	0.8844	0.01241	0.3158:0.0984:0.1754:0.4104	.	311	E7EV07	.	P	311	ENSP00000386794:L311P	.	L	+	2	0	ARHGEF4	131389911	0.018000	0.18449	0.001000	0.08648	0.020000	0.10135	0.387000	0.20718	-0.498000	0.06632	0.391000	0.25812	CTT	.		0.647	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4		
ATP1A3	478	ucsc.edu;bcgsc.ca	37	19	42492480	42492480	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:42492480T>C	ENST00000302102.5	-	3	293	c.143A>G	c.(142-144)gAc>gGc	p.D48G	ATP1A3_ENST00000602133.1_Missense_Mutation_p.D18G|ATP1A3_ENST00000545399.1_Missense_Mutation_p.D61G|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Missense_Mutation_p.D59G	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	48					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CTGCACACAGTCTGTGTTGTA	0.612																																					p.D61G		.											.	ATP1A3	92	0			c.A182G						.						146.0	144.0	145.0					19																	42492480		2203	4300	6503	SO:0001583	missense	478	exon3			ACACAGTCTGTGT		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.143A>G	19.37:g.42492480T>C	ENSP00000302397:p.Asp48Gly	27.0	0.0		39.0	4.0	NM_001256214	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	T	17.30	3.353713	0.61293	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770;ENST00000448429	D;D;D;D	0.90133	-2.62;-2.62;-2.62;-2.62	4.62	4.62	0.57501	ATPase, P-type cation-transporter, N-terminal (2);	0.119681	0.52532	D	0.000078	D	0.93239	0.7846	M	0.92923	3.36	0.80722	D	1	B;B;B;B	0.20368	0.044;0.008;0.037;0.01	B;B;B;B	0.33196	0.09;0.047;0.159;0.079	D	0.92689	0.6165	10	0.72032	D	0.01	.	12.3345	0.55058	0.0:0.0:0.0:1.0	.	61;59;48;48	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	G	48;48;61;18;59;61	ENSP00000302397:D48G;ENSP00000411503:D48G;ENSP00000444688:D61G;ENSP00000437577:D59G	ENSP00000302397:D48G	D	-	2	0	ATP1A3	47184320	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.569000	0.82380	1.886000	0.54624	0.397000	0.26171	GAC	.		0.612	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	
ATP8A2	51761	broad.mit.edu;bcgsc.ca;mdanderson.org	37	13	25946367	25946367	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr13:25946367G>T	ENST00000381655.2	+	1	159	c.17G>T	c.(16-18)gGc>gTc	p.G6V		NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	0					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AACGGCGCAGGCCTGGACAAA	0.751																																					p.G6V		.											.	ATP8A2	138	0			c.G17T						.						5.0	7.0	6.0					13																	25946367		1672	3758	5430	SO:0001583	missense	51761	exon1			GCGCAGGCCTGGA	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.17G>T	13.37:g.25946367G>T	ENSP00000371070:p.Gly6Val	30.0	0.0		26.0	14.0	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	g	8.891	0.954083	0.18431	.	.	ENSG00000132932	ENST00000381655	T	0.57752	0.38	2.53	2.53	0.30540	.	0.566581	0.12073	U	0.502018	T	0.49864	0.1582	L	0.29908	0.895	0.80722	D	1	.	.	.	.	.	.	T	0.53823	-0.8384	8	0.87932	D	0	.	10.7722	0.46330	0.0:0.0:1.0:0.0	.	.	.	.	V	6	ENSP00000371070:G6V	ENSP00000371070:G6V	G	+	2	0	ATP8A2	24844367	0.971000	0.33674	0.966000	0.40874	0.318000	0.28184	3.597000	0.54031	1.428000	0.47296	0.298000	0.19748	GGC	.		0.751	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
BACE1	23621	ucsc.edu;bcgsc.ca	37	11	117164684	117164684	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:117164684T>C	ENST00000313005.6	-	4	1068	c.608A>G	c.(607-609)aAg>aGg	p.K203R	BACE1_ENST00000392937.6_Missense_Mutation_p.K103R|BACE1_ENST00000510630.1_Intron|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Intron|BACE1_ENST00000445823.2_Missense_Mutation_p.K159R|BACE1_ENST00000528053.1_Missense_Mutation_p.K203R	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	203					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTGGGTCTGCTTTACCAGAGA	0.567																																					p.K203R		.											.	BACE1	91	0			c.A608G						.						112.0	97.0	102.0					11																	117164684		2201	4296	6497	SO:0001583	missense	23621	exon4			GTCTGCTTTACCA	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.608A>G	11.37:g.117164684T>C	ENSP00000318585:p.Lys203Arg	46.0	0.0		37.0	4.0	NM_012104	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.635092	0.47049	.	.	ENSG00000186318	ENST00000313005;ENST00000392937;ENST00000528053;ENST00000445823	T;T;T	0.44083	0.93;0.93;0.93	5.97	5.97	0.96955	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.048832	0.85682	D	0.000000	T	0.26268	0.0641	N	0.10733	0.035	0.52501	D	0.999954	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.13407	0.001;0.003;0.009	T	0.07065	-1.0792	10	0.30078	T	0.28	.	15.642	0.77012	0.0:0.0:0.0:1.0	.	103;203;159	F8W807;P56817;P56817-3	.;BACE1_HUMAN;.	R	203;103;203;159	ENSP00000318585:K203R;ENSP00000431848:K203R;ENSP00000403685:K159R	ENSP00000318585:K203R	K	-	2	0	BACE1	116669894	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.677000	0.61634	2.288000	0.76882	0.533000	0.62120	AAG	.		0.567	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1		
BRD8	10902	ucsc.edu;bcgsc.ca	37	5	137504197	137504197	+	Intron	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:137504197A>G	ENST00000254900.5	-	9	1014				BRD8_ENST00000230901.5_Silent_p.L275L|BRD8_ENST00000455658.2_Intron|BRD8_ENST00000411594.2_Silent_p.L275L|BRD8_ENST00000402931.1_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8						cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CCCTTCTTCAAGAGCTCTGAC	0.532																																					p.L275L		.											.	BRD8	91	0			c.T823C						.						59.0	66.0	64.0					5																	137504197		2203	4300	6503	SO:0001627	intron_variant	10902	exon9			TCTTCAAGAGCTC	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.643-430T>C	5.37:g.137504197A>G		57.0	0.0		41.0	4.0	NM_001164326	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	CCDS4198.1																																																																																			.		0.532	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696	
BTBD2	55643	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	1997425	1997425	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:1997425T>C	ENST00000255608.4	-	2	461	c.445A>G	c.(445-447)Atg>Gtg	p.M149V	BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	149	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					cytoplasmic mRNA processing body (GO:0000932)				endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTTGAACATGGCATCAAAG	0.642																																					p.M149V		.											.	BTBD2	92	0			c.A445G						.						165.0	146.0	153.0					19																	1997425		2203	4300	6503	SO:0001583	missense	55643	exon2			TGAACATGGCATC	AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.445A>G	19.37:g.1997425T>C	ENSP00000255608:p.Met149Val	38.0	0.0		27.0	15.0	NM_017797	O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Missense_Mutation	SNP	ENST00000255608.4	37	CCDS12078.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.697260	0.68386	.	.	ENSG00000133243	ENST00000255608	T	0.70164	-0.46	4.31	4.31	0.51392	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86887	0.6041	H	0.98256	4.185	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	D	0.91224	0.5009	10	0.87932	D	0	-57.6655	12.917	0.58211	0.0:0.0:0.0:1.0	.	149	Q9BX70	BTBD2_HUMAN	V	149	ENSP00000255608:M149V	ENSP00000255608:M149V	M	-	1	0	BTBD2	1948425	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	7.880000	0.87243	1.723000	0.51488	0.459000	0.35465	ATG	.		0.642	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2		
C5AR2	27202	ucsc.edu;bcgsc.ca	37	19	47844239	47844239	+	Silent	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:47844239G>A	ENST00000595464.1	+	2	401	c.183G>A	c.(181-183)ggG>ggA	p.G61G	C5AR2_ENST00000600626.1_Silent_p.G61G|C5AR2_ENST00000257267.2_Silent_p.G61G	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	61					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GGGTGGCTGGGAAGGTGGCCC	0.687																																					p.G61G		.											.	.	.	0			c.G183A						.						67.0	69.0	68.0					19																	47844239		2203	4298	6501	SO:0001819	synonymous_variant	27202	exon2			GGCTGGGAAGGTG	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.183G>A	19.37:g.47844239G>A		42.0	0.0		38.0	4.0	NM_001271750	B2RA09	Silent	SNP	ENST00000595464.1	37	CCDS12699.1																																																																																			.		0.687	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	NM_018485	
C6orf136	221545	ucsc.edu;bcgsc.ca	37	6	30619102	30619102	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:30619102T>C	ENST00000376473.5	+	4	782	c.623T>C	c.(622-624)tTt>tCt	p.F208S	C6orf136_ENST00000293604.6_Missense_Mutation_p.F389S|C6orf136_ENST00000376471.4_Missense_Mutation_p.F74S|C6orf136_ENST00000528347.2_Missense_Mutation_p.F65S|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	208						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TGGAATTATTTTGCACACCTT	0.557																																					p.F389S		.											.	C6orf136	90	0			c.T1166C						.						233.0	234.0	233.0					6																	30619102		2203	4300	6503	SO:0001583	missense	221545	exon4			ATTATTTTGCACA	BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221	ENST00000376473.5:c.623T>C	6.37:g.30619102T>C	ENSP00000365656:p.Phe208Ser	41.0	0.0		39.0	4.0	NM_001161376	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Missense_Mutation	SNP	ENST00000376473.5	37	CCDS43443.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.933680	0.73442	.	.	ENSG00000204564	ENST00000293604;ENST00000376473;ENST00000376471;ENST00000446773;ENST00000528347;ENST00000465699;ENST00000467801	.	.	.	5.2	4.0	0.46444	.	0.117083	0.64402	D	0.000012	T	0.57095	0.2030	M	0.62723	1.935	0.37921	D	0.931705	D;B;D	0.64830	0.985;0.451;0.994	P;B;P	0.60117	0.67;0.124;0.869	T	0.59873	-0.7372	8	.	.	.	-21.5737	9.1379	0.36886	0.0:0.0866:0.0:0.9134	.	74;389;208	A9R9P9;F8VX15;Q5SQH8	.;.;CF136_HUMAN	S	389;208;74;326;65;30;21	.	.	F	+	2	0	C6orf136	30727081	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.503000	0.45407	2.180000	0.69256	0.533000	0.62120	TTT	.		0.557	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076457.4	NM_145029	
C9orf170	401535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	89763702	89763702	+	Silent	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr9:89763702G>T	ENST00000375941.2	+	1	144	c.57G>T	c.(55-57)ggG>ggT	p.G19G		NM_001001709.2	NP_001001709.1	A2RU37	CI170_HUMAN	chromosome 9 open reading frame 170	19										large_intestine(3)|lung(2)|prostate(1)	6						TCCTCCTGGGGGTGTGGGGGC	0.711																																					p.G19G		.											.	C9orf170	90	0			c.G57T						.						16.0	19.0	18.0					9																	89763702		2202	4296	6498	SO:0001819	synonymous_variant	401535	exon1			CCTGGGGGTGTGG	AK127445	CCDS35058.1	9q21.33	2009-02-11			ENSG00000204446	ENSG00000204446			33817	protein-coding gene	gene with protein product							Standard	NM_001001709		Approved	FLJ45537	uc004apa.1	A2RU37	OTTHUMG00000159587	ENST00000375941.2:c.57G>T	9.37:g.89763702G>T		34.0	0.0		27.0	14.0	NM_001001709		Silent	SNP	ENST00000375941.2	37	CCDS35058.1																																																																																			.		0.711	C9orf170-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356346.1	NM_001001709	
CADM2	253559	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	85984981	85984981	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr3:85984981G>T	ENST00000407528.2	+	6	800	c.738G>T	c.(736-738)ttG>ttT	p.L246F	CADM2_ENST00000405615.2_Missense_Mutation_p.L248F|CADM2_ENST00000383699.3_Missense_Mutation_p.L255F	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	246	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTTTAATTTTGACTTGTGAAT	0.308																																					p.L255F		.											.	CADM2	228	0			c.G765T						.						96.0	102.0	100.0					3																	85984981		2203	4297	6500	SO:0001583	missense	253559	exon7			AATTTTGACTTGT	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.738G>T	3.37:g.85984981G>T	ENSP00000384575:p.Leu246Phe	218.0	0.0		213.0	93.0	NM_001167675	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155619	0.78114	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;T;T	0.89415	-2.51;-1.48;-1.48	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	L	0.43554	1.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.89344	0.3656	10	0.23302	T	0.38	.	19.9785	0.97317	0.0:0.0:1.0:0.0	.	248;255;246	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	F	255;246;248	ENSP00000373200:L255F;ENSP00000384575:L246F;ENSP00000384193:L248F	ENSP00000373200:L255F	L	+	3	2	CADM2	86067671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.724000	0.93272	0.650000	0.86243	TTG	.		0.308	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
CASQ1	844	ucsc.edu;bcgsc.ca	37	1	160165795	160165795	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:160165795A>G	ENST00000368078.3	+	6	956	c.760A>G	c.(760-762)Aac>Gac	p.N254D	CASQ1_ENST00000467691.1_5'Flank|CASQ1_ENST00000368079.3_Missense_Mutation_p.N248D			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	254					endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGAGATTGTCAACTTCGTGGA	0.562																																					p.N254D		.											.	CASQ1	90	0			c.A760G						.						80.0	82.0	81.0					1																	160165795		2203	4300	6503	SO:0001583	missense	844	exon6			ATTGTCAACTTCG	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.760A>G	1.37:g.160165795A>G	ENSP00000357057:p.Asn254Asp	57.0	0.0		45.0	5.0	NM_001231	B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	A	6.889	0.533505	0.13188	.	.	ENSG00000143318	ENST00000368079;ENST00000368078;ENST00000441151	T;T	0.72505	-0.66;-0.66	4.82	4.82	0.62117	Thioredoxin-like fold (2);	0.586681	0.20750	N	0.086376	T	0.15219	0.0367	N	0.01297	-0.9	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.21314	-1.0249	10	0.10902	T	0.67	.	5.1694	0.15103	0.7253:0.1834:0.0913:0.0	.	254	P31415	CASQ1_HUMAN	D	248;254;169	ENSP00000357058:N248D;ENSP00000357057:N254D	ENSP00000357057:N254D	N	+	1	0	CASQ1	158432419	0.005000	0.15991	0.976000	0.42696	0.898000	0.52572	0.340000	0.19892	2.149000	0.67028	0.454000	0.30748	AAC	.		0.562	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231	
CATSPERG	57828	ucsc.edu;bcgsc.ca	37	19	38827958	38827958	+	Silent	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:38827958G>T	ENST00000409235.3	+	2	199	c.84G>T	c.(82-84)gtG>gtT	p.V28V	CATSPERG_ENST00000215069.4_Silent_p.V44V|CATSPERG_ENST00000410018.1_Silent_p.V28V	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	28					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGCTGGCAGTGCTCCTGGCGT	0.617																																					p.V28V		.											.	CATSPERG	92	0			c.G84T						.						135.0	120.0	124.0					19																	38827958		692	1591	2283	SO:0001819	synonymous_variant	57828	exon2			GGCAGTGCTCCTG	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.84G>T	19.37:g.38827958G>T		38.0	0.0		46.0	4.0	NM_021185	A6NEG6|Q659E1	Silent	SNP	ENST00000409235.3	37	CCDS12514.2																																																																																			.		0.617	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
CD300LF	146722	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	72700898	72700898	+	Missense_Mutation	SNP	C	C	A	rs146550147		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:72700898C>A	ENST00000326165.6	-	2	212	c.101G>T	c.(100-102)gGc>gTc	p.G34V	CD300LF_ENST00000301573.9_Missense_Mutation_p.G34V|RAB37_ENST00000340415.3_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.G37V|CD300LF_ENST00000343125.4_Missense_Mutation_p.G37V|CD300LF_ENST00000469092.1_Missense_Mutation_p.G37V|CD300LF_ENST00000583937.1_Missense_Mutation_p.G34V|CD300LF_ENST00000361254.4_Missense_Mutation_p.G37V|CD300LF_ENST00000464910.1_Missense_Mutation_p.G37V	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	34	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGTCAAGGAGCCCCGCTCCAA	0.512																																					p.G34V		.											.	CD300LF	23	0			c.G101T						.	C	VAL/GLY,	1,4405	2.1+/-5.4	0,1,2202	85.0	79.0	81.0		101,	4.4	0.1	17	dbSNP_134	81	0,8600		0,0,4300	no	missense,intron	CD300LF,RAB37	NM_139018.3,NM_175738.4	109,	0,1,6502	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging,	34/291,	72700898	1,13005	2203	4300	6503	SO:0001583	missense	146722	exon2			AAGGAGCCCCGCT	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.101G>T	17.37:g.72700898C>A	ENSP00000327075:p.Gly34Val	90.0	0.0		84.0	35.0	NM_139018	B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Missense_Mutation	SNP	ENST00000326165.6	37	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795488	0.50208	2.27E-4	0.0	ENSG00000186074	ENST00000301573;ENST00000361254;ENST00000343125;ENST00000326165	T;T;T;T	0.05081	3.5;3.5;3.5;3.5	5.35	4.38	0.52667	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.374624	0.23091	N	0.052033	T	0.31702	0.0805	H	0.94264	3.515	0.22851	N	0.998652	D;D;D;D;D;D	0.89917	0.994;1.0;0.967;1.0;1.0;1.0	D;D;P;D;D;D	0.87578	0.951;0.996;0.853;0.997;0.998;0.993	T	0.33266	-0.9875	10	0.87932	D	0	.	8.4986	0.33144	0.0:0.8221:0.0:0.1779	.	34;37;37;34;34;37	E7EME0;Q8TDQ1-2;Q8TDQ1-4;Q8TDQ1-5;Q8TDQ1;Q8TDQ1-6	.;.;.;.;CLM1_HUMAN;.	V	34;37;37;34	ENSP00000301573:G34V;ENSP00000355294:G37V;ENSP00000343751:G37V;ENSP00000327075:G34V	ENSP00000301573:G34V	G	-	2	0	CD300LF	70212493	0.000000	0.05858	0.078000	0.20375	0.024000	0.10985	-0.163000	0.09997	1.381000	0.46364	0.561000	0.74099	GGC	C|1.000;A|0.000		0.512	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018	
CEP192	55125	broad.mit.edu;ucsc.edu;bcgsc.ca	37	18	13103583	13103583	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr18:13103583T>C	ENST00000325971.8	+	37	6752	c.5159T>C	c.(5158-5160)gTc>gCc	p.V1720A	CEP192_ENST00000430049.2_Missense_Mutation_p.V1841A|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.V2316A			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1720					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCACCTTATGTCAAGGTCAGT	0.393																																					p.V2316A		.											.	CEP192	27	0			c.T6947C						.						160.0	134.0	143.0					18																	13103583		2203	4300	6503	SO:0001583	missense	55125	exon39			CTTATGTCAAGGT	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5159T>C	18.37:g.13103583T>C	ENSP00000317156:p.Val1720Ala	53.0	0.0		39.0	4.0	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	T	21.5	4.155449	0.78114	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.17370	2.3;2.28;2.31	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	M	0.74881	2.28	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.971;0.999	D;D;P;D	0.80764	0.994;0.987;0.721;0.994	T	0.38436	-0.9661	10	0.87932	D	0	-8.9591	15.261	0.73621	0.0:0.0:0.0:1.0	.	1841;2316;320;918	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	A	2316;1720;1720;1841;320	ENSP00000427550:V2316A;ENSP00000317156:V1720A;ENSP00000389190:V1841A	ENSP00000317156:V1720A	V	+	2	0	CEP192	13093583	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	5.760000	0.68793	2.244000	0.73946	0.528000	0.53228	GTC	.		0.393	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
CGB7	94027	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	49558233	49558233	+	Silent	SNP	G	G	A	rs370423985	byFrequency	TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:49558233G>A	ENST00000597853.1	-	4	2919	c.48C>T	c.(46-48)ggC>ggT	p.G16G	CGB7_ENST00000356213.4_Silent_p.G14G|CGB7_ENST00000593309.1_5'Flank|CGB7_ENST00000596965.1_Silent_p.G16G|CGB7_ENST00000377280.3_Silent_p.G16G			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 7	16					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.G16G(1)		lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CCCATGTCCCGCCCATGCTCA	0.667													G|||	6	0.00119808	0.0045	0.0	5008	,	,		13824	0.0		0.0	False		,,,				2504	0.0				p.G16G		.											.	CGB7	90	1	Substitution - coding silent(1)	urinary_tract(1)	c.C48T						.	G		1,3013		0,1,1506	88.0	66.0	74.0		48	-4.0	0.0	19		74	0,5382		0,0,2691	no	coding-synonymous	CGB7	NM_033142.1		0,1,4197	AA,AG,GG		0.0,0.0332,0.0119		16/166	49558233	1,8395	1507	2691	4198	SO:0001819	synonymous_variant	94027	exon2			TGTCCCGCCCATG	K00092	CCDS33071.1	19q13.32	2008-02-05				ENSG00000196337			16451	protein-coding gene	gene with protein product		608826				6194155	Standard	NM_033142		Approved	CG-beta-a		P01233		ENST00000597853.1:c.48C>T	19.37:g.49558233G>A		21.0	0.0		21.0	9.0	NM_033142	A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Silent	SNP	ENST00000597853.1	37	CCDS33071.1																																																																																			.		0.667	CGB7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466254.1	NM_033142	
CHST15	51363	ucsc.edu;bcgsc.ca	37	10	125805726	125805726	+	Start_Codon_SNP	SNP	C	C	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr10:125805726C>A	ENST00000346248.5	-	2	645	c.3G>T	c.(1-3)atG>atT	p.M1I	CHST15_ENST00000435907.1_Start_Codon_SNP_p.M1I|CHST15_ENST00000421115.1_Start_Codon_SNP_p.M1I|CHST15_ENST00000462406.1_5'UTR	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	1					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGCAGTGCCTCATGGTAGTGC	0.602																																					p.M1I		.											.	CHST15	91	0			c.G3T						.						34.0	35.0	35.0					10																	125805726		2199	4291	6490	SO:0001582	initiator_codon_variant	51363	exon2			GTGCCTCATGGTA	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.3G>T	10.37:g.125805726C>A	ENSP00000333947:p.Met1Ile	31.0	0.0		19.0	4.0	NM_001270764	O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171771	0.78452	.	.	ENSG00000182022	ENST00000346248;ENST00000435907;ENST00000434607;ENST00000546346;ENST00000421115	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	.	.	.	0.80722	D	1	D;D	0.62365	0.991;0.985	P;P	0.56751	0.805;0.643	T	0.78917	-0.2015	8	0.87932	D	0	-44.0587	17.9509	0.89052	0.0:1.0:0.0:0.0	.	1;1	Q7LFX5-2;Q7LFX5	.;CHSTF_HUMAN	I	1	.	ENSP00000333947:M1I	M	-	3	0	CHST15	125795716	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.699000	0.54778	2.676000	0.91093	0.561000	0.74099	ATG	.		0.602	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	Missense_Mutation
CLEC17A	388512	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	14705334	14705334	+	Missense_Mutation	SNP	A	A	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:14705334A>T	ENST00000417570.1	+	5	321	c.283A>T	c.(283-285)Agt>Tgt	p.S95C	CLEC17A_ENST00000397439.2_Missense_Mutation_p.S78C|CLEC17A_ENST00000547437.1_Missense_Mutation_p.S95C	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	95						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										TCCAGGTTCAAGTGCTCCACC	0.582																																					p.S95C		.											.	CLEC17A	22	0			c.A283T						.						40.0	41.0	40.0					19																	14705334		1957	4146	6103	SO:0001583	missense	388512	exon5			GGTTCAAGTGCTC	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.283A>T	19.37:g.14705334A>T	ENSP00000393719:p.Ser95Cys	57.0	0.0		66.0	31.0	NM_207390	A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	a	7.414	0.635337	0.14322	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.64618	-0.11;2.22;-0.11	3.18	-6.36	0.01969	.	.	.	.	.	T	0.30603	0.0770	N	0.08118	0	0.09310	N	1	P;P;P;P	0.46327	0.876;0.768;0.804;0.768	B;B;B;B	0.40982	0.345;0.26;0.187;0.26	T	0.34004	-0.9846	9	0.41790	T	0.15	-36.3205	0.4882	0.00559	0.2203:0.2181:0.2921:0.2695	.	95;95;95;95	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	C	95;78;95	ENSP00000450065:S95C;ENSP00000380581:S78C;ENSP00000393719:S95C	ENSP00000341620:S95C	S	+	1	0	CLEC17A	14566334	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.707000	0.05041	-3.115000	0.00240	-1.668000	0.00747	AGT	.		0.582	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390	
CNNM1	26507	ucsc.edu;bcgsc.ca	37	10	101120689	101120689	+	Silent	SNP	C	C	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr10:101120689C>A	ENST00000356713.4	+	3	2104	c.1815C>A	c.(1813-1815)atC>atA	p.I605I	CNNM1_ENST00000446890.1_Silent_p.I534I|CNNM1_ENST00000370534.4_Silent_p.I240I|CNNM1_ENST00000370528.3_Silent_p.I534I	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	605					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGGTGAAGATCTCACCACAGC	0.547																																					p.I605I		.											.	CNNM1	68	0			c.C1815A						.						95.0	89.0	91.0					10																	101120689		2203	4300	6503	SO:0001819	synonymous_variant	26507	exon3			GAAGATCTCACCA	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.1815C>A	10.37:g.101120689C>A		35.0	0.0		41.0	5.0	NM_020348	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Silent	SNP	ENST00000356713.4	37	CCDS7478.2																																																																																			.		0.547	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348	
COL11A2	1302	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	33144048	33144048	+	Missense_Mutation	SNP	A	A	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:33144048A>T	ENST00000374708.4	-	26	2202	c.1944T>A	c.(1942-1944)caT>caA	p.H648Q	COL11A2_ENST00000374714.1_Missense_Mutation_p.H708Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.H627Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.H687Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.H713Q|COL11A2_ENST00000341947.2_Missense_Mutation_p.H734Q|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374712.1_Missense_Mutation_p.H653Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.H674Q	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	734	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCTCACCCTTATGACCCTTCA	0.587																																					p.H734Q	Melanoma(1;90 116 3946 5341 17093)	.											.	COL11A2	95	0			c.T2202A						.						75.0	43.0	54.0					6																	33144048		1511	2709	4220	SO:0001583	missense	1302	exon28			ACCCTTATGACCC	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1944T>A	6.37:g.33144048A>T	ENSP00000363840:p.His648Gln	81.0	0.0		82.0	36.0	NM_080680	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	A	11.80	1.747069	0.30955	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917	D;D;D;D;D;D;D;D	0.95069	-3.35;-3.35;-3.35;-3.6;-3.35;-3.35;-3.35;-3.35	4.88	-0.479	0.12089	.	0.000000	0.85682	D	0.000000	T	0.81555	0.4847	N	0.03281	-0.365	0.47905	D	0.999546	P;P;D	0.57257	0.756;0.748;0.979	P;P;P	0.55055	0.583;0.583;0.767	T	0.78393	-0.2221	10	0.20519	T	0.43	.	8.0482	0.30562	0.4656:0.0:0.5344:0.0	.	627;648;734	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	Q	648;734;713;708;687;674;653;627	ENSP00000363840:H648Q;ENSP00000339915:H734Q;ENSP00000350079:H713Q;ENSP00000363846:H708Q;ENSP00000363845:H687Q;ENSP00000378623:H674Q;ENSP00000363844:H653Q;ENSP00000355123:H627Q	ENSP00000339915:H734Q	H	-	3	2	COL11A2	33252026	0.998000	0.40836	0.994000	0.49952	0.997000	0.91878	0.360000	0.20250	-0.219000	0.10003	0.448000	0.29417	CAT	.		0.587	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
COL19A1	1310	ucsc.edu;bcgsc.ca	37	6	70916914	70916914	+	Missense_Mutation	SNP	G	G	T	rs373246651		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:70916914G>T	ENST00000322773.4	+	51	3467	c.3365G>T	c.(3364-3366)aGa>aTa	p.R1122I	COL19A1_ENST00000393344.1_Missense_Mutation_p.R744I	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1122					cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCAGTGGAAGATGTAACCCA	0.507																																					p.R1122I		.											.	COL19A1	156	0			c.G3365T						.						150.0	173.0	165.0					6																	70916914		2203	4300	6503	SO:0001583	missense	1310	exon51			GTGGAAGATGTAA		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.3365G>T	6.37:g.70916914G>T	ENSP00000316030:p.Arg1122Ile	35.0	0.0		20.0	4.0	NM_001858	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185651	0.57909	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93547	-3.24;-3.24	5.9	4.12	0.48240	.	0.135547	0.49916	D	0.000139	D	0.87896	0.6293	L	0.28776	0.89	0.46437	D	0.999047	P	0.50710	0.938	P	0.52267	0.694	D	0.87194	0.2236	10	0.36615	T	0.2	.	10.3722	0.44060	0.1491:0.0:0.8509:0.0	.	1122	Q14993	COJA1_HUMAN	I	1122;744	ENSP00000316030:R1122I;ENSP00000377013:R744I	ENSP00000316030:R1122I	R	+	2	0	COL19A1	70973635	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.328000	0.43867	1.503000	0.48686	0.563000	0.77884	AGA	.		0.507	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1		
CPT1B	1375	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	51010728	51010728	+	Missense_Mutation	SNP	G	G	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr22:51010728G>C	ENST00000360719.2	-	12	1499	c.1362C>G	c.(1360-1362)gaC>gaG	p.D454E	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Missense_Mutation_p.D251E|CPT1B_ENST00000405237.3_Missense_Mutation_p.D454E|CPT1B_ENST00000440709.1_Missense_Mutation_p.D373E|CPT1B_ENST00000395650.2_Missense_Mutation_p.D454E|CPT1B_ENST00000312108.7_Missense_Mutation_p.D454E|CPT1B_ENST00000457250.1_Missense_Mutation_p.D420E	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	454					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TGAAGGATTTGTCAAACCACC	0.498																																					p.D454E	Esophageal Squamous(170;988 1933 25577 30295 48163)	.											.	CPT1B	116	0			c.C1362G						.						66.0	59.0	61.0					22																	51010728		2203	4298	6501	SO:0001583	missense	1375	exon12			GGATTTGTCAAAC	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1362C>G	22.37:g.51010728G>C	ENSP00000353945:p.Asp454Glu	54.0	0.0		34.0	16.0	NM_001145135	B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255430	0.59321	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.97598	-4.45;-4.45;-4.45;-4.45;-4.45;-4.45;-4.45	5.51	3.42	0.39159	.	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	H	0.96748	3.875	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.998;0.998	D;D;D;D	0.91635	0.998;0.999;0.971;0.971	D	0.97931	1.0320	10	0.87932	D	0	-39.6839	7.2184	0.25973	0.2329:0.0:0.7671:0.0	.	373;420;251;454	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	E	454;454;454;420;373;251;454	ENSP00000385486:D454E;ENSP00000312189:D454E;ENSP00000353945:D454E;ENSP00000409342:D420E;ENSP00000414713:D373E;ENSP00000410966:D251E;ENSP00000379011:D454E	ENSP00000312189:D454E	D	-	3	2	CPT1B	49357594	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	1.093000	0.30939	2.586000	0.87340	0.561000	0.74099	GAC	.		0.498	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246	
CST7	8530	ucsc.edu;bcgsc.ca	37	20	24939666	24939666	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr20:24939666C>T	ENST00000480798.1	+	3	622	c.346C>T	c.(346-348)Cac>Tac	p.H116Y	CST7_ENST00000376835.2_Missense_Mutation_p.H138Y	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	116					immune response (GO:0006955)|negative regulation of endopeptidase activity (GO:0010951)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CCAAACCAACCACACCTTGAA	0.522																																					p.H116Y		.											.	CST7	91	0			c.C346T						.						134.0	126.0	129.0					20																	24939666		2203	4300	6503	SO:0001583	missense	8530	exon3			ACCAACCACACCT	AF036342	CCDS13165.1, CCDS13165.2	20p11.21	2008-04-15			ENSG00000077984	ENSG00000077984			2479	protein-coding gene	gene with protein product		603253				9733783, 9632704	Standard	NM_003650		Approved		uc002wtx.2	O76096	OTTHUMG00000032108	ENST00000480798.1:c.346C>T	20.37:g.24939666C>T	ENSP00000420384:p.His116Tyr	40.0	0.0		37.0	4.0	NM_003650	Q6FH95|Q7Z4J8|Q9UED4	Missense_Mutation	SNP	ENST00000480798.1	37	CCDS13165.2	.	.	.	.	.	.	.	.	.	.	C	6.550	0.469708	0.12461	.	.	ENSG00000077984	ENST00000480798;ENST00000376835	T;T	0.13307	2.6;2.6	5.71	1.26	0.21427	Proteinase inhibitor I25, cystatin (2);	1.119980	0.06511	N	0.738041	T	0.09202	0.0227	N	0.14661	0.345	0.09310	N	1	B	0.19583	0.037	B	0.10450	0.005	T	0.35025	-0.9805	10	0.66056	D	0.02	-16.3498	8.1668	0.31230	0.5052:0.4186:0.0:0.0761	.	116	O76096	CYTF_HUMAN	Y	116;138	ENSP00000420384:H116Y;ENSP00000366031:H138Y	ENSP00000366031:H138Y	H	+	1	0	CST7	24887666	0.028000	0.19301	0.482000	0.27366	0.197000	0.23852	0.680000	0.25306	0.719000	0.32188	0.462000	0.41574	CAC	.		0.522	CST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078381.2	NM_003650	
CTNNB1	1499	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	41266125	41266125	+	Missense_Mutation	SNP	C	C	T	rs121913413		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr3:41266125C>T	ENST00000349496.5	+	3	402	c.122C>T	c.(121-123)aCc>aTc	p.T41I	CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41I|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41I|CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	41			T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes). {ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10398436, ECO:0000269|PubMed:10435629, ECO:0000269|PubMed:10655994, ECO:0000269|PubMed:9927029}.|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). {ECO:0000269|PubMed:10192393, ECO:0000269|PubMed:10391090, ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.T41I(74)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41N(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A39_T42del(1)|p.A20_S111del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGTGCCACTACCACAGCTCCT	0.507		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.T41I	Colon(6;3 56 14213 18255)	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,gallbladder,other,+1	CTNNB1	24361	204	Deletion - In frame(95)|Substitution - Missense(83)|Complex - deletion inframe(17)|Unknown(7)|Deletion - Frameshift(2)	liver(105)|large_intestine(24)|pituitary(20)|endometrium(14)|stomach(8)|skin(6)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|pancreas(3)|thyroid(2)|small_intestine(2)|prostate(2)|ovary(2)|bone(2)|adrenal_gland(1)|cervix(1)	c.C122T						.						90.0	77.0	81.0					3																	41266125		2203	4300	6503	SO:0001583	missense	1499	exon3	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	CCACTACCACAGC	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.122C>T	3.37:g.41266125C>T	ENSP00000344456:p.Thr41Ile	121.0	0.0		111.0	53.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568904	0.86439	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.71082	0.3298	M	0.79258	2.445	0.80722	D	1	D	0.67145	0.996	D	0.68039	0.955	T	0.72893	-0.4154	10	0.87932	D	0	-8.9189	20.2983	0.98569	0.0:1.0:0.0:0.0	.	41	P35222	CTNB1_HUMAN	I	34;41;41;41;41;34;41;41;41	ENSP00000400508:T34I;ENSP00000385604:T41I;ENSP00000412219:T41I;ENSP00000379486:T41I;ENSP00000344456:T41I;ENSP00000411226:T34I;ENSP00000379488:T41I;ENSP00000409302:T41I;ENSP00000401599:T41I	ENSP00000344456:T41I	T	+	2	0	CTNNB1	41241129	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	ACC	.		0.507	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CUZD1	50624	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	124605313	124605313	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr10:124605313G>A	ENST00000368904.1	-	3	996	c.47C>T	c.(46-48)tCc>tTc	p.S16F	CUZD1_ENST00000392790.1_Missense_Mutation_p.S16F|CUZD1_ENST00000545804.1_Missense_Mutation_p.S16F					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CGCCAAACAGGAGAGAATTAA	0.468																																					p.S16F		.											.	CUZD1	92	0			c.C47T						.						61.0	61.0	61.0					10																	124605313		2203	4300	6503	SO:0001583	missense	50624	exon1			AAACAGGAGAGAA	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.47C>T	10.37:g.124605313G>A	ENSP00000357900:p.Ser16Phe	34.0	0.0		20.0	7.0	NM_022034		Missense_Mutation	SNP	ENST00000368904.1	37	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527082	0.27299	.	.	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.44482	0.92;0.92;0.92	4.28	3.36	0.38483	.	0.817377	0.10367	N	0.683233	T	0.27419	0.0673	L	0.29908	0.895	0.09310	N	1	P	0.44877	0.845	B	0.36719	0.231	T	0.04811	-1.0925	10	0.27082	T	0.32	-0.1207	8.3138	0.32088	0.1137:0.0:0.8863:0.0	.	16	Q86UP6	CUZD1_HUMAN	F	16	ENSP00000357900:S16F;ENSP00000441590:S16F;ENSP00000376540:S16F	ENSP00000357900:S16F	S	-	2	0	CUZD1	124595303	0.006000	0.16342	0.001000	0.08648	0.026000	0.11368	1.514000	0.35834	0.902000	0.36520	0.655000	0.94253	TCC	.		0.468	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034	
DCAF6	55827	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	167971772	167971772	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:167971772C>T	ENST00000312263.6	+	8	1160	c.956C>T	c.(955-957)aCt>aTt	p.T319I	DCAF6_ENST00000432587.2_Missense_Mutation_p.T288I|DCAF6_ENST00000367843.3_Missense_Mutation_p.T319I|DCAF6_ENST00000367840.3_Missense_Mutation_p.T319I	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	319					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TGGTCAGATACTGGACCCAGA	0.373																																					p.T319I		.											.	DCAF6	516	0			c.C956T						.						153.0	154.0	154.0					1																	167971772		2203	4300	6503	SO:0001583	missense	55827	exon8			CAGATACTGGACC	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.956C>T	1.37:g.167971772C>T	ENSP00000311949:p.Thr319Ile	234.0	0.0		237.0	64.0	NM_001198956	A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Missense_Mutation	SNP	ENST00000312263.6	37	CCDS30933.1	.	.	.	.	.	.	.	.	.	.	C	32	5.183393	0.94885	.	.	ENSG00000143164	ENST00000367843;ENST00000432587;ENST00000312263;ENST00000367840	D;T;D;D	0.84660	-1.8;-0.17;-1.79;-1.88	5.56	5.56	0.83823	WD40 repeat-like-containing domain (1);	0.048107	0.85682	D	0.000000	D	0.91640	0.7358	M	0.74647	2.275	0.45076	D	0.998099	D;D;D;D	0.76494	0.999;0.999;0.994;0.997	D;D;P;D	0.78314	0.991;0.972;0.836;0.914	D	0.91405	0.5146	9	0.66056	D	0.02	.	19.8925	0.96935	0.0:1.0:0.0:0.0	.	288;319;319;319	B4DNB8;Q58WW2-3;Q58WW2;Q58WW2-2	.;.;DCAF6_HUMAN;.	I	319;288;319;319	ENSP00000356817:T319I;ENSP00000396238:T288I;ENSP00000311949:T319I;ENSP00000356814:T319I	ENSP00000311949:T319I	T	+	2	0	DCAF6	166238396	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.890000	0.75633	2.787000	0.95880	0.650000	0.86243	ACT	.		0.373	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	NM_018442	
DCN	1634	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	91558424	91558424	+	Frame_Shift_Del	DEL	G	G	-	rs3138221	byFrequency	TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:91558424delG	ENST00000052754.5	-	3	783	c.282delC	c.(280-282)accfs	p.T94fs	DCN_ENST00000228329.5_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000552962.1_Frame_Shift_Del_p.T94fs|DCN_ENST00000303320.3_Frame_Shift_Del_p.T94fs|DCN_ENST00000425043.1_Intron|DCN_ENST00000393155.1_Frame_Shift_Del_p.T94fs|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Frame_Shift_Del_p.T94fs|DCN_ENST00000420120.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	94					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CTTTGATTTCGGTTATTTTGT	0.378																																					p.T94fs		.											.	DCN	555	0			c.282delC						.						153.0	137.0	142.0					12																	91558424		2203	4300	6503	SO:0001589	frameshift_variant	1634	exon3			GATTTCGGTTATT	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.282delC	12.37:g.91558424delG	ENSP00000052754:p.Thr94fs	206.0	0.0		145.0	60.0	NM_001920	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Frame_Shift_Del	DEL	ENST00000052754.5	37	CCDS9039.1																																																																																			.		0.378	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507	
DEPDC4	120863	ucsc.edu;bcgsc.ca	37	12	100660700	100660700	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:100660700G>A	ENST00000416321.1	-	1	157	c.155C>T	c.(154-156)aCa>aTa	p.T52I	SCYL2_ENST00000360820.2_5'Flank	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	52					intracellular signal transduction (GO:0035556)					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AGGGCTACCTGTCCTCCTTTT	0.597																																					p.T52I		.											.	DEPDC4	90	0			c.C155T						.						108.0	107.0	107.0					12																	100660700		2203	4300	6503	SO:0001583	missense	120863	exon1			CTACCTGTCCTCC	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.155C>T	12.37:g.100660700G>A	ENSP00000396234:p.Thr52Ile	37.0	0.0		19.0	4.0	NM_152317	Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598129	0.46318	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249;ENST00000551642	T;T;T;T	0.31510	1.49;1.5;2.55;1.5	4.67	2.82	0.32997	.	0.280033	0.32081	U	0.006602	T	0.15955	0.0384	N	0.08118	0	0.09310	N	1	B;P;B	0.37061	0.39;0.58;0.243	B;B;B	0.39379	0.132;0.298;0.097	T	0.09314	-1.0680	10	0.87932	D	0	.	6.403	0.21648	0.0996:0.1854:0.715:0.0	.	52;52;52	E9PGM3;Q3ZCN8;Q8N2C3	.;.;DEPD4_HUMAN	I	52;52;52;52;52;45	ENSP00000396234:T52I;ENSP00000448385:T52I;ENSP00000448338:T52I;ENSP00000449590:T45I	ENSP00000299185:T52I	T	-	2	0	DEPDC4	99184831	0.477000	0.25909	0.260000	0.24451	0.215000	0.24574	1.816000	0.38992	0.669000	0.31146	0.655000	0.94253	ACA	.		0.597	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317	
DHRS7C	201140	ucsc.edu;bcgsc.ca	37	17	9683305	9683305	+	Silent	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:9683305A>G	ENST00000330255.5	-	3	330	c.318T>C	c.(316-318)tgT>tgC	p.C106C	DHRS7C_ENST00000571134.1_Silent_p.C105C	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	106					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						CATCTGGGACACAGCTGATGT	0.507																																					p.C106C		.											.	.	.	0			c.T318C						.						77.0	76.0	77.0					17																	9683305		2032	4200	6232	SO:0001819	synonymous_variant	201140	exon3			TGGGACACAGCTG		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.318T>C	17.37:g.9683305A>G		55.0	0.0		42.0	4.0	NM_001220493	B7ZW74|B9EJH3	Silent	SNP	ENST00000330255.5	37	CCDS56020.1																																																																																			.		0.507	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912	
DLX4	1748	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	17	48046980	48046980	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:48046980C>T	ENST00000240306.3	+	1	443	c.148C>T	c.(148-150)Ccg>Tcg	p.P50S	DLX4_ENST00000503410.1_3'UTR|DLX4_ENST00000505318.2_Missense_Mutation_p.P50S	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	50				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTACTCCAGGCCGTATGGCCA	0.652																																					p.P50S		.											.	DLX4	90	0			c.C148T						.						99.0	100.0	100.0					17																	48046980		2203	4300	6503	SO:0001583	missense	1748	exon1			TCCAGGCCGTATG		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.148C>T	17.37:g.48046980C>T	ENSP00000240306:p.Pro50Ser	33.0	0.0		26.0	12.0	NM_138281	D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	37	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660455	0.29515	.	.	ENSG00000108813	ENST00000240306	D	0.91351	-2.83	3.88	0.596	0.17496	.	.	.	.	.	T	0.75027	0.3794	N	0.14661	0.345	0.09310	N	0.999997	B	0.09022	0.002	B	0.04013	0.001	T	0.61098	-0.7131	9	0.02654	T	1	-0.3069	3.3909	0.07289	0.2023:0.5656:0.0:0.2321	.	50	Q92988	DLX4_HUMAN	S	50	ENSP00000240306:P50S	ENSP00000240306:P50S	P	+	1	0	DLX4	45401979	0.007000	0.16637	0.006000	0.13384	0.898000	0.52572	1.018000	0.30002	0.304000	0.22809	0.313000	0.20887	CCG	.		0.652	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1		
DNAH10	196385	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	124377824	124377824	+	Silent	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:124377824C>T	ENST00000409039.3	+	52	8711	c.8686C>T	c.(8686-8688)Ctg>Ttg	p.L2896L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2896	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGTCTATCCTGAGTCAGAT	0.498																																					p.L2896L		.											.	DNAH10	95	0			c.C8686T						.						64.0	67.0	66.0					12																	124377824		2006	4194	6200	SO:0001819	synonymous_variant	196385	exon52			TCTATCCTGAGTC	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.8686C>T	12.37:g.124377824C>T		90.0	0.0		67.0	28.0	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																			.		0.498	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DNAH2	146754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	7734001	7734001	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:7734001A>G	ENST00000572933.1	+	79	13531	c.12071A>G	c.(12070-12072)tAt>tGt	p.Y4024C	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y4024C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4024					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGAGCCTCTATCTCGATGAG	0.542																																					p.Y4024C		.											.	DNAH2	102	0			c.A12071G						.						75.0	73.0	74.0					17																	7734001		2203	4300	6503	SO:0001583	missense	146754	exon78			GCCTCTATCTCGA	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12071A>G	17.37:g.7734001A>G	ENSP00000458355:p.Tyr4024Cys	99.0	0.0		62.0	24.0	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777868	0.70107	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.13657	2.57	5.84	5.84	0.93424	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67937	-0.5541	10	0.87932	D	0	.	15.1984	0.73116	1.0:0.0:0.0:0.0	.	3985;4024	Q9P225-2;Q9P225	.;DYH2_HUMAN	C	3985;4024	ENSP00000373825:Y4024C	ENSP00000353818:Y3985C	Y	+	2	0	DNAH2	7674726	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.509000	0.67012	2.243000	0.73865	0.533000	0.62120	TAT	.		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNALI1	7802	ucsc.edu;bcgsc.ca	37	1	38024944	38024944	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:38024944A>G	ENST00000296218.7	+	3	320	c.310A>G	c.(310-312)Acg>Gcg	p.T104A	DNALI1_ENST00000541606.1_Intron	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	82					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGTGGAAGACACGCAGCTATG	0.597																																					p.T104A		.											.	DNALI1	154	0			c.A310G						.						87.0	80.0	82.0					1																	38024944		2203	4300	6503	SO:0001583	missense	7802	exon3			GAAGACACGCAGC	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.310A>G	1.37:g.38024944A>G	ENSP00000296218:p.Thr104Ala	29.0	0.0		26.0	5.0	NM_003462	A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	CCDS420.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.197800	0.38806	.	.	ENSG00000163879	ENST00000296218	T	0.41400	1.0	5.17	3.96	0.45880	.	0.296737	0.39687	N	0.001291	T	0.28333	0.0700	N	0.17082	0.46	0.29517	N	0.853814	B	0.26002	0.139	B	0.28305	0.088	T	0.28554	-1.0040	10	0.52906	T	0.07	-11.5107	11.9776	0.53100	0.7416:0.2584:0.0:0.0	.	82	O14645	IDLC_HUMAN	A	104	ENSP00000296218:T104A	ENSP00000296218:T104A	T	+	1	0	DNALI1	37797531	0.714000	0.27936	1.000000	0.80357	0.813000	0.45954	1.926000	0.40084	2.074000	0.62210	0.460000	0.39030	ACG	.		0.597	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462	
DUOXA2	405753	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	45408389	45408389	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr15:45408389C>A	ENST00000323030.5	+	3	558	c.273C>A	c.(271-273)agC>agA	p.S91R	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	91					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		AAGCCTTCAGCGCAGCGCGCG	0.572																																					p.S91R		.											.	DUOXA2	226	0			c.C273A						.						139.0	132.0	134.0					15																	45408389		2002	4151	6153	SO:0001583	missense	405753	exon3			CTTCAGCGCAGCG	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.273C>A	15.37:g.45408389C>A	ENSP00000319705:p.Ser91Arg	41.0	0.0		43.0	26.0	NM_207581	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646005	0.47258	.	.	ENSG00000140274	ENST00000323030	T	0.67865	-0.29	5.41	-9.39	0.00619	.	0.117307	0.85682	D	0.000000	T	0.78742	0.4331	M	0.79123	2.44	0.31474	N	0.668055	D	0.76494	0.999	D	0.71870	0.975	T	0.82678	-0.0338	10	0.72032	D	0.01	-18.1639	23.4889	0.99983	0.0:0.8007:0.0:0.1993	.	91	Q1HG44	DOXA2_HUMAN	R	91	ENSP00000319705:S91R	ENSP00000319705:S91R	S	+	3	2	DUOXA2	43195681	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.207000	0.09384	-2.250000	0.00701	-1.267000	0.01435	AGC	.		0.572	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581	
EEF1A2	1917	ucsc.edu;mdanderson.org	37	20	62122018	62122018	+	Silent	SNP	C	C	A	rs139282309		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr20:62122018C>A	ENST00000298049.7	-	5	913	c.843G>T	c.(841-843)gcG>gcT	p.A281A	EEF1A2_ENST00000217182.3_Silent_p.A281A			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	281					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGTTCACTGGCGCAAAGGTCA	0.642																																					p.A281A		.											.	EEF1A2	90	0			c.G843T						.						63.0	58.0	60.0					20																	62122018		2197	4288	6485	SO:0001819	synonymous_variant	1917	exon6			CACTGGCGCAAAG	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.843G>T	20.37:g.62122018C>A		13.0	0.0		17.0	10.0	NM_001958	B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	CCDS13522.1																																																																																			C|1.000;T|0.000		0.642	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958	
EIF3C	8663	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	28734840	28734840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr16:28734840delC	ENST00000331666.6	+	10	1194	c.1008delC	c.(1006-1008)atcfs	p.I336fs	EIF3C_ENST00000395587.1_Frame_Shift_Del_p.I336fs|EIF3C_ENST00000564243.1_Frame_Shift_Del_p.I326fs|EIF3C_ENST00000566501.1_Frame_Shift_Del_p.I336fs|EIF3C_ENST00000566866.1_Frame_Shift_Del_p.I336fs					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						TGAATGAGATCCTACAGGCAC	0.512																																					p.E336fs		.											.	EIF3C	1	0			c.1008delG						.						162.0	182.0	175.0					16																	28734840		2190	4278	6468	SO:0001589	frameshift_variant	8663	exon10			TGAGATCCTACAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.1008delC	16.37:g.28734840delC	ENSP00000332604:p.Ile336fs	802.0	0.0		733.0	112.0	NM_001199142		Frame_Shift_Del	DEL	ENST00000331666.6	37	CCDS10638.1																																																																																			.		0.512	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752	
EML2	24139	ucsc.edu;bcgsc.ca	37	19	46112992	46112992	+	Silent	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:46112992A>G	ENST00000245925.3	-	19	1929	c.1879T>C	c.(1879-1881)Ttg>Ctg	p.L627L	EML2_ENST00000587152.1_Silent_p.L828L|EML2_ENST00000536630.1_Silent_p.L774L|EML2_ENST00000589876.1_Intron	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	627	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCATCCCACAAGAAGGCCACA	0.557																																					p.L828L		.											.	EML2	154	0			c.T2482C						.						146.0	114.0	125.0					19																	46112992		2203	4300	6503	SO:0001819	synonymous_variant	24139	exon22			CCCACAAGAAGGC	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.1879T>C	19.37:g.46112992A>G		35.0	0.0		41.0	4.0	NM_001193268	B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	CCDS12670.1																																																																																			.		0.557	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
EP300	2033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	41560092	41560092	+	Missense_Mutation	SNP	A	A	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr22:41560092A>T	ENST00000263253.7	+	22	4983	c.3764A>T	c.(3763-3765)cAt>cTt	p.H1255L		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1255					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAAAGATGCATCAGATCTGT	0.388			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.H1255L		.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	EP300	2011	0			c.A3764T						.						229.0	201.0	211.0					22																	41560092		2203	4300	6503	SO:0001583	missense	2033	exon22	Familial Cancer Database	Broad Thumb-Hallux syndrome	AGATGCATCAGAT	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3764A>T	22.37:g.41560092A>T	ENSP00000263253:p.His1255Leu	232.0	0.0		217.0	98.0	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457081	0.84317	.	.	ENSG00000100393	ENST00000263253	D	0.97941	-4.62	5.59	5.59	0.84812	.	0.000000	0.47852	D	0.000207	D	0.99026	0.9667	M	0.93328	3.405	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	D	0.99533	1.0961	10	0.87932	D	0	-13.0515	15.7693	0.78152	1.0:0.0:0.0:0.0	.	1255	Q09472	EP300_HUMAN	L	1255	ENSP00000263253:H1255L	ENSP00000263253:H1255L	H	+	2	0	EP300	39890038	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	2.125000	0.65367	0.459000	0.35465	CAT	.		0.388	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
EPB41L5	57669	ucsc.edu;bcgsc.ca	37	2	120834553	120834553	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:120834553T>C	ENST00000263713.5	+	8	726	c.512T>C	c.(511-513)cTt>cCt	p.L171P	EPB41L5_ENST00000443902.2_Missense_Mutation_p.L171P|EPB41L5_ENST00000331393.4_Missense_Mutation_p.L171P|EPB41L5_ENST00000452780.1_Missense_Mutation_p.L171P|EPB41L5_ENST00000443124.1_Missense_Mutation_p.L171P	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	171	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ATAGCTGAACTTGGTGACTAT	0.343																																					p.L171P		.											.	EPB41L5	91	0			c.T512C						.						99.0	99.0	99.0					2																	120834553		2203	4300	6503	SO:0001583	missense	57669	exon8			CTGAACTTGGTGA	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.512T>C	2.37:g.120834553T>C	ENSP00000263713:p.Leu171Pro	48.0	0.0		39.0	4.0	NM_020909	Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818310	0.71028	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	4.83	4.83	0.62350	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.64402	D	0.000004	D	0.90734	0.7092	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.93755	0.7062	10	0.87932	D	0	.	14.0513	0.64739	0.0:0.0:0.0:1.0	.	171;171;171	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	P	171	ENSP00000263713:L171P;ENSP00000393856:L171P;ENSP00000329687:L171P;ENSP00000393722:L171P;ENSP00000390439:L171P	ENSP00000263713:L171P	L	+	2	0	EPB41L5	120551023	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.660000	0.83776	1.796000	0.52611	0.459000	0.35465	CTT	.		0.343	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909	
FAM161B	145483	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	74409115	74409115	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr14:74409115T>A	ENST00000534936.1	-	4	1334	c.1229A>T	c.(1228-1230)cAc>cTc	p.H410L	FAM161B_ENST00000286544.3_Missense_Mutation_p.H473L			Q96MY7	F161B_HUMAN	family with sequence similarity 161, member B	410										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						CCGCTGAGGGTGGCGCAGGTT	0.622																																					p.H473L		.											.	FAM161B	91	0			c.A1418T						.						104.0	96.0	99.0					14																	74409115		2203	4300	6503	SO:0001583	missense	145483	exon4			TGAGGGTGGCGCA	AA356453	CCDS9822.1, CCDS9822.2	14q24.2	2008-06-05	2008-06-05	2008-06-05		ENSG00000156050			19854	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 44"""	C14orf44			Standard	NM_152445		Approved	FLJ31697	uc001xpd.3	Q96MY7		ENST00000534936.1:c.1229A>T	14.37:g.74409115T>A	ENSP00000445326:p.His410Leu	227.0	2.0		193.0	75.0	NM_152445	B7Z882|J3KNA2	Missense_Mutation	SNP	ENST00000534936.1	37		.	.	.	.	.	.	.	.	.	.	T	10.25	1.299367	0.23650	.	.	ENSG00000156050	ENST00000286544;ENST00000534936	T;T	0.21932	1.98;1.98	5.54	-0.622	0.11560	.	0.604609	0.16308	N	0.220146	T	0.17577	0.0422	L	0.51422	1.61	0.09310	N	1	P	0.38677	0.642	B	0.40741	0.339	T	0.14643	-1.0465	10	0.30078	T	0.28	-1.5573	6.2629	0.20910	0.0:0.2357:0.2311:0.5332	.	410	Q96MY7	F161B_HUMAN	L	473;410	ENSP00000286544:H473L;ENSP00000445326:H410L	ENSP00000286544:H473L	H	-	2	0	FAM161B	73478868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.614000	0.05604	-0.230000	0.09840	-0.313000	0.08912	CAC	.		0.622	FAM161B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_152445	
FAM83E	54854	ucsc.edu;bcgsc.ca	37	19	49113247	49113247	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:49113247A>G	ENST00000263266.3	-	3	833	c.644T>C	c.(643-645)gTc>gCc	p.V215A		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	215										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACGACACGGACATCCACGTT	0.642																																					p.V215A		.											.	FAM83E	91	0			c.T644C						.						25.0	30.0	28.0					19																	49113247		2137	4235	6372	SO:0001583	missense	54854	exon3			ACACGGACATCCA	AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.644T>C	19.37:g.49113247A>G	ENSP00000263266:p.Val215Ala	35.0	0.0		28.0	4.0	NM_017708	Q9NXK1	Missense_Mutation	SNP	ENST00000263266.3	37	CCDS42587.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695420	0.30052	.	.	ENSG00000105523	ENST00000263266	T	0.20881	2.04	4.66	4.66	0.58398	.	0.280321	0.27613	N	0.018594	T	0.25827	0.0629	M	0.72479	2.2	0.22354	N	0.999179	B	0.23128	0.08	B	0.25614	0.062	T	0.22941	-1.0202	10	0.87932	D	0	-13.0816	10.7994	0.46480	1.0:0.0:0.0:0.0	.	215	Q2M2I3	FA83E_HUMAN	A	215	ENSP00000263266:V215A	ENSP00000263266:V215A	V	-	2	0	FAM83E	53805059	0.976000	0.34144	0.978000	0.43139	0.052000	0.14988	6.855000	0.75445	1.901000	0.55032	0.454000	0.30748	GTC	.		0.642	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466145.1	NM_017708	
FARP1	10160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	98896898	98896898	+	Intron	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr13:98896898A>G	ENST00000319562.6	+	2	436				FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000376581.5_Missense_Mutation_p.T109A	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)						dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TATTTCTTACACAAACTGGGC	0.418																																					p.T109A		.											.	FARP1	290	0			c.A325G						.						117.0	116.0	116.0					13																	98896898		2203	4300	6503	SO:0001627	intron_variant	10160	exon3			TCTTACACAAACT	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.171+31231A>G	13.37:g.98896898A>G		57.0	0.0		57.0	32.0	NM_001001715	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	A	4.838	0.155825	0.09236	.	.	ENSG00000152767	ENST00000376581	T	0.49432	0.78	3.2	-4.09	0.03951	.	.	.	.	.	T	0.21590	0.0520	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.15549	-1.0433	9	0.87932	D	0	.	3.4211	0.07393	0.2581:0.0:0.394:0.3479	.	109	Q5JVI9	.	A	109	ENSP00000365765:T109A	ENSP00000365765:T109A	T	+	1	0	FARP1	97694899	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.013000	0.03645	-0.871000	0.04042	-0.403000	0.06358	ACA	.		0.418	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
FBXL4	26235	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	99322272	99322272	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:99322272G>T	ENST00000369244.2	-	10	2176	c.1748C>A	c.(1747-1749)tCt>tAt	p.S583Y	FBXL4_ENST00000229971.1_Missense_Mutation_p.S583Y	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	583					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATCTTTACAAGATTCCAGGAG	0.343																																					p.S583Y		.											.	FBXL4	227	0			c.C1748A						.						119.0	123.0	122.0					6																	99322272		2203	4300	6503	SO:0001583	missense	26235	exon9			TTACAAGATTCCA	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1748C>A	6.37:g.99322272G>T	ENSP00000358247:p.Ser583Tyr	116.0	0.0		108.0	49.0	NM_012160	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	37	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783913	0.49891	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.19105	2.17;2.17	5.95	5.08	0.68730	.	0.166936	0.53938	D	0.000042	T	0.11707	0.0285	L	0.40543	1.245	0.45867	D	0.998725	P	0.36789	0.57	B	0.40101	0.319	T	0.04796	-1.0926	10	0.30854	T	0.27	.	15.774	0.78193	0.0:0.3814:0.6186:0.0	.	583	Q9UKA2	FBXL4_HUMAN	Y	583	ENSP00000358247:S583Y;ENSP00000229971:S583Y	ENSP00000229971:S583Y	S	-	2	0	FBXL4	99428993	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	4.331000	0.59273	1.504000	0.48704	0.655000	0.94253	TCT	.		0.343	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2		
FER1L5	90342	broad.mit.edu;mdanderson.org	37	2	97359397	97359397	+	RNA	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:97359397G>A	ENST00000457909.1	+	0	1906							A0AVI2	FR1L5_HUMAN	fer-1-like family member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						CGCTTGTGGTGCTGGAGCTGT	0.577																																					p.V1176V		.											.	FER1L5	23	0			c.G3528A						.						54.0	64.0	61.0					2																	97359397		692	1591	2283			90342	exon31			TGTGGTGCTGGAG	BC126368		2q11.2	2014-06-27	2014-06-27		ENSG00000249715	ENSG00000249715			19044	protein-coding gene	gene with protein product			"""fer-1-like 5 (C. elegans)"""				Standard	XM_006712826		Approved	DKFZp434I0121	uc010fia.3	A0AVI2	OTTHUMG00000154929		2.37:g.97359397G>A		18.0	0.0		25.0	12.0	NM_001113382	Q17RH2|Q6ZU24	Silent	SNP	ENST00000457909.1	37																																																																																				.		0.577	FER1L5-001	KNOWN	basic|exp_conf	retained_intron	pseudogene	OTTHUMT00000339030.1	NM_001077400	
FZD4	8322	ucsc.edu;bcgsc.ca	37	11	86662521	86662521	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:86662521T>C	ENST00000531380.1	-	2	1582	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	PRSS23_ENST00000533902.2_3'UTR|PRSS23_ENST00000531521.1_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	426					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTTGTCTGTCTTTGTCCCATC	0.413																																					p.K426R		.											.	FZD4	1145	0			c.A1277G						.						164.0	148.0	153.0					11																	86662521		2201	4299	6500	SO:0001583	missense	8322	exon2			TCTGTCTTTGTCC	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1277A>G	11.37:g.86662521T>C	ENSP00000434034:p.Lys426Arg	44.0	0.0		31.0	4.0	NM_012193	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	T	18.60	3.659931	0.67586	.	.	ENSG00000174804	ENST00000531380	D	0.82803	-1.65	5.77	5.77	0.91146	GPCR, family 2-like (1);	0.041245	0.85682	D	0.000000	D	0.85084	0.5616	L	0.60012	1.86	0.80722	D	1	B	0.30973	0.302	B	0.43155	0.41	T	0.82190	-0.0580	9	.	.	.	.	16.0977	0.81139	0.0:0.0:0.0:1.0	.	426	Q9ULV1	FZD4_HUMAN	R	426	ENSP00000434034:K426R	.	K	-	2	0	FZD4	86340169	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.977000	0.88081	2.215000	0.71742	0.459000	0.35465	AAG	.		0.413	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193	
GABRA2	2555	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	46390679	46390679	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:46390679delA	ENST00000510861.1	-	2	218	c.45delT	c.(43-45)tttfs	p.F15fs	GABRA2_ENST00000507460.1_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000514090.1_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000356504.1_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000540012.1_5'UTR|RP11-436F23.1_ENST00000502455.1_RNA|GABRA2_ENST00000515082.1_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000381620.4_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000507069.1_Frame_Shift_Del_p.F15fs			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	15					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCAAGAAAACAAAAAGCAGGA	0.373																																					p.F15fs		.											.	GABRA2	94	0			c.45delT						.						157.0	155.0	156.0					4																	46390679		2203	4300	6503	SO:0001589	frameshift_variant	2555	exon2			GAAAACAAAAAGC		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.45delT	4.37:g.46390679delA	ENSP00000421828:p.Phe15fs	308.0	0.0		316.0	137.0	NM_000807	A8K0U7|B7Z1H8|Q59G14	Frame_Shift_Del	DEL	ENST00000510861.1	37	CCDS3471.1																																																																																			.		0.373	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRA2	2555	hgsc.bcm.edu;bcgsc.ca	37	4	46390684	46390684	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:46390684G>T	ENST00000510861.1	-	2	213	c.40C>A	c.(40-42)Ctt>Att	p.L14I	GABRA2_ENST00000507460.1_Missense_Mutation_p.L14I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L14I|GABRA2_ENST00000356504.1_Missense_Mutation_p.L14I|GABRA2_ENST00000540012.1_5'UTR|RP11-436F23.1_ENST00000502455.1_RNA|GABRA2_ENST00000515082.1_Missense_Mutation_p.L14I|GABRA2_ENST00000381620.4_Missense_Mutation_p.L14I|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000507069.1_Missense_Mutation_p.L14I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	14					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAAACAAAAAGCAGGAACTGC	0.378																																					p.L14I		.											.	GABRA2	94	0			c.C40A						.						159.0	157.0	158.0					4																	46390684		2203	4300	6503	SO:0001583	missense	2555	exon2			CAAAAAGCAGGAA		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.40C>A	4.37:g.46390684G>T	ENSP00000421828:p.Leu14Ile	302.0	1.0		309.0	139.0	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315639	0.60524	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460	T;T;T;T;T;D;T;T	0.81908	-1.34;-1.34;-1.34;-1.34;-1.49;-1.55;-1.17;-1.17	5.0	5.0	0.66597	.	1.271310	0.05211	N	0.506821	D	0.87621	0.6223	N	0.24115	0.695	0.26319	N	0.9777	D;P;P	0.67145	0.996;0.927;0.458	D;D;P	0.80764	0.994;0.953;0.745	T	0.79650	-0.1715	10	0.72032	D	0.01	.	15.9563	0.79889	0.0:0.0:1.0:0.0	.	14;14;14	D6RAA9;G5E9Z6;P47869	.;.;GBRA2_HUMAN	I	14	ENSP00000421828:L14I;ENSP00000421300:L14I;ENSP00000371033:L14I;ENSP00000348897:L14I;ENSP00000427603:L14I;ENSP00000423840:L14I;ENSP00000424362:L14I;ENSP00000424093:L14I	ENSP00000348897:L14I	L	-	1	0	GABRA2	46085441	0.998000	0.40836	0.269000	0.24586	0.582000	0.36321	2.893000	0.48633	2.746000	0.94184	0.561000	0.74099	CTT	.		0.378	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GAS2L1	10634	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	29704470	29704470	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr22:29704470G>T	ENST00000406549.3	+	2	525	c.375G>T	c.(373-375)gaG>gaT	p.E125D	GAS2L1_ENST00000403764.1_Missense_Mutation_p.E125D|GAS2L1_ENST00000471961.1_Missense_Mutation_p.E125D|GAS2L1_ENST00000341313.6_Missense_Mutation_p.E125D|GAS2L1_ENST00000360113.2_Missense_Mutation_p.E125D|GAS2L1_ENST00000407647.2_Missense_Mutation_p.E125D|GAS2L1_ENST00000407854.1_Missense_Mutation_p.E125D	NM_001278730.1	NP_001265659.1	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	125	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell cycle arrest (GO:0007050)|cellular response to starvation (GO:0009267)|cellular response to thyroid hormone stimulus (GO:0097067)|microtubule bundle formation (GO:0001578)|negative regulation of cell growth (GO:0030308)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of gene expression (GO:0010629)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)|thyroid hormone receptor binding (GO:0046966)			endometrium(2)|lung(2)|prostate(1)	5						TTGAGACTGAGGACCTGGTGC	0.677																																					p.E125D		.											.	GAS2L1	90	0			c.G375T						.						52.0	54.0	53.0					22																	29704470		2201	4298	6499	SO:0001583	missense	10634	exon2			GACTGAGGACCTG	BC001782	CCDS63438.1, CCDS74840.1	22q12.2	2008-06-11			ENSG00000185340	ENSG00000185340			16955	protein-coding gene	gene with protein product		602128				8975699, 12584248, 1607387	Standard	NM_001278730		Approved	GAR22	uc003afc.1	Q99501	OTTHUMG00000151108	ENST00000406549.3:c.375G>T	22.37:g.29704470G>T	ENSP00000383995:p.Glu125Asp	30.0	0.0		18.0	6.0	NM_152237	B5MCR7|Q53EN7|Q92640|Q9BUY9	Missense_Mutation	SNP	ENST00000406549.3	37		.	.	.	.	.	.	.	.	.	.	G	13.73	2.325437	0.41197	.	.	ENSG00000185340	ENST00000407647;ENST00000416823;ENST00000428622;ENST00000333679;ENST00000406549;ENST00000360113;ENST00000341313;ENST00000403764;ENST00000471961;ENST00000407854	D;D;D;D;D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03;-4.03	4.71	0.92	0.19397	Calponin homology domain (5);	0.152935	0.42420	D	0.000705	D	0.87708	0.6245	N	0.03154	-0.405	0.34525	D	0.708617	B;B;B;B	0.27140	0.012;0.016;0.169;0.169	B;B;B;B	0.37989	0.055;0.071;0.262;0.262	T	0.81435	-0.0934	10	0.21540	T	0.41	-17.0094	3.5007	0.07672	0.0906:0.2177:0.4681:0.2236	.	125;125;125;125	B5MCR7;E7EQM6;A0A5E8;Q99501	.;.;.;GA2L1_HUMAN	D	125	ENSP00000385554:E125D;ENSP00000395988:E125D;ENSP00000388645:E125D;ENSP00000383995:E125D;ENSP00000353229:E125D;ENSP00000344012:E125D;ENSP00000385358:E125D;ENSP00000450152:E125D;ENSP00000385023:E125D	ENSP00000332834:E125D	E	+	3	2	GAS2L1	28034470	0.144000	0.22641	0.996000	0.52242	0.887000	0.51463	-0.382000	0.07408	0.977000	0.38444	-0.339000	0.08088	GAG	.		0.677	GAS2L1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321365.1	NM_006478	
GDNF	2668	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	37815756	37815756	+	Silent	SNP	G	G	A	rs121918536		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:37815756G>A	ENST00000326524.2	-	3	832	c.633C>T	c.(631-633)atC>atT	p.I211I	GDNF_ENST00000344622.4_Silent_p.I185I|GDNF_ENST00000427982.1_Silent_p.I228I|GDNF_ENST00000381826.4_Silent_p.I202I|GDNF_ENST00000515058.1_Silent_p.I185I	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	211			I -> M (in HSCR3). {ECO:0000269|PubMed:10917288}.		adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GCCGGAGTCAGATACATCCAC	0.458																																					p.I228I		.											.	GDNF	90	0			c.C684T						.						104.0	93.0	96.0					5																	37815756		2203	4300	6503	SO:0001819	synonymous_variant	2668	exon3			GAGTCAGATACAT		CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.633C>T	5.37:g.37815756G>A		112.0	0.0		93.0	25.0	NM_001190468	B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Silent	SNP	ENST00000326524.2	37	CCDS3922.1																																																																																			.		0.458	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207606.1	NM_000514	
GDPD2	54857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	69644840	69644840	+	Silent	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chrX:69644840C>T	ENST00000374382.3	+	2	257	c.6C>T	c.(4-6)gcC>gcT	p.A2A	GDPD2_ENST00000453994.2_Silent_p.A2A|GDPD2_ENST00000538649.1_Intron|GDPD2_ENST00000536730.1_Intron	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	2					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TCACCATGGCCGAGTCCCCCG	0.647																																					p.A2A		.											.	GDPD2	132	0			c.C6T						.						17.0	13.0	14.0					X																	69644840		2197	4287	6484	SO:0001819	synonymous_variant	54857	exon2			CATGGCCGAGTCC	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.6C>T	X.37:g.69644840C>T		46.0	0.0		45.0	43.0	NM_017711	B4DRH4|B4DVC9|Q9NXJ6	Silent	SNP	ENST00000374382.3	37	CCDS14402.1																																																																																			.		0.647	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711	
GLUD1	2746	ucsc.edu;bcgsc.ca	37	10	88813145	88813145	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr10:88813145T>C	ENST00000277865.4	-	12	1607	c.1511A>G	c.(1510-1512)gAc>gGc	p.D504G	GLUD1_ENST00000544149.1_Missense_Mutation_p.D371G|GLUD1_ENST00000537649.1_Missense_Mutation_p.D337G	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	504					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	GTGCACGATGTCTTTCTCAGA	0.448																																					p.D504G		.											.	GLUD1	90	0			c.A1511G						.						126.0	95.0	106.0					10																	88813145		2203	4300	6503	SO:0001583	missense	2746	exon12			ACGATGTCTTTCT	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1511A>G	10.37:g.88813145T>C	ENSP00000277865:p.Asp504Gly	42.0	0.0		40.0	4.0	NM_005271	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	T	18.21	3.572613	0.65765	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96685	-4.09;-4.09;-4.09	5.58	5.58	0.84498	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98441	0.9481	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	D	0.99640	1.0988	10	0.87932	D	0	-16.0029	15.7463	0.77944	0.0:0.0:0.0:1.0	.	371;504	B4DGN5;P00367	.;DHE3_HUMAN	G	504;461;337;203;436;371	ENSP00000277865:D504G;ENSP00000439291:D337G;ENSP00000444732:D371G	ENSP00000277865:D504G	D	-	2	0	GLUD1	88803125	1.000000	0.71417	1.000000	0.80357	0.262000	0.26303	7.698000	0.84413	2.133000	0.65898	0.482000	0.46254	GAC	.		0.448	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271	
GRAMD3	65983	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	5	125819257	125819257	+	Missense_Mutation	SNP	A	A	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:125819257A>C	ENST00000285689.3	+	9	1299	c.838A>C	c.(838-840)Aac>Cac	p.N280H	GRAMD3_ENST00000542322.1_Missense_Mutation_p.N288H|GRAMD3_ENST00000515200.1_Missense_Mutation_p.N257H|GRAMD3_ENST00000513040.1_Missense_Mutation_p.N295H|GRAMD3_ENST00000502348.1_Missense_Mutation_p.N171H|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000544396.1_Missense_Mutation_p.N176H|GRAMD3_ENST00000511134.1_Missense_Mutation_p.N264H|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.N257H	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	280						cytoplasmic microtubule (GO:0005881)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		TGAATCTGAGAACTCTCGAGG	0.373																																					p.N295H		.											.	GRAMD3	90	0			c.A883C						.						77.0	74.0	75.0					5																	125819257		2203	4300	6503	SO:0001583	missense	65983	exon9			TCTGAGAACTCTC	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.838A>C	5.37:g.125819257A>C	ENSP00000285689:p.Asn280His	39.0	0.0		43.0	18.0	NM_001146319	B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414771	0.42817	.	.	ENSG00000155324	ENST00000513040;ENST00000543367;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T;T	0.34859	1.34;1.34;1.37;1.34;1.38;1.39;1.38;1.36	6.07	4.92	0.64577	.	0.465860	0.26099	N	0.026350	T	0.37598	0.1009	M	0.66939	2.045	0.36831	D	0.886889	B;B;B;B;B	0.16166	0.005;0.003;0.004;0.016;0.005	B;B;B;B;B	0.11329	0.006;0.004;0.006;0.004;0.004	T	0.33137	-0.9880	10	0.37606	T	0.19	.	12.7036	0.57046	0.6522:0.3478:0.0:0.0	.	264;176;288;295;280	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	H	295;264;280;257;288;176;257;171;264	ENSP00000426120:N295H;ENSP00000285689:N280H;ENSP00000426143:N257H;ENSP00000441876:N288H;ENSP00000444049:N176H;ENSP00000442902:N257H;ENSP00000427596:N171H;ENSP00000426088:N264H	ENSP00000285689:N280H	N	+	1	0	GRAMD3	125847156	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.939000	0.48995	1.111000	0.41721	0.533000	0.62120	AAC	.		0.373	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927	
MTIF3	219402	ucsc.edu;bcgsc.ca	37	13	28009317	28009317	+	IGR	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr13:28009317A>G	ENST00000381116.1	-	0	1104				MTIF3_ENST00000461838.1_5'Flank|GTF3A_ENST00000470606.1_3'UTR|GTF3A_ENST00000381140.4_Silent_p.K307K			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		ACAAGAAGAAAATGAAGCTCA	0.348																																					p.K307K		.											.	.	.	0			c.A921G						.						121.0	108.0	112.0					13																	28009317		1568	3582	5150	SO:0001628	intergenic_variant	2971	exon8			GAAGAAAATGAAG	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009317A>G		58.0	0.0		38.0	4.0	NM_002097	Q05BL8|Q5W0V0|Q86X68	Silent	SNP	ENST00000381116.1	37	CCDS9322.1																																																																																			.		0.348	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912	
HACL1	26061	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	15604875	15604875	+	Missense_Mutation	SNP	C	C	G	rs149555880	byFrequency	TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr3:15604875C>G	ENST00000321169.5	-	16	2061	c.1694G>C	c.(1693-1695)cGg>cCg	p.R565P	HACL1_ENST00000435217.2_Missense_Mutation_p.R324P|HACL1_ENST00000451445.2_Missense_Mutation_p.R483P|HACL1_ENST00000456194.2_Missense_Mutation_p.R538P|HACL1_ENST00000457447.2_Missense_Mutation_p.R505P	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	565					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTGGGCCTTCCGTGTGGCTTG	0.453																																					p.R565P		.											.	HACL1	90	0			c.G1694C						.						187.0	171.0	176.0					3																	15604875		2203	4300	6503	SO:0001583	missense	26061	exon16			GCCTTCCGTGTGG	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1694G>C	3.37:g.15604875C>G	ENSP00000323811:p.Arg565Pro	327.0	0.0		259.0	132.0	NM_012260	B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.886169	0.91814	.	.	ENSG00000131373	ENST00000321169;ENST00000435217;ENST00000451445;ENST00000456194;ENST00000457447	T;T;T;T;T	0.47528	1.44;0.84;1.43;1.44;0.89	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.78916	2.43	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.998;0.996;1.0;0.998	T	0.73347	-0.4011	10	0.66056	D	0.02	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	483;505;538;324;565	B4DXI5;E9PEN4;B4DWI1;B3KPX4;Q9UJ83	.;.;.;.;HACL1_HUMAN	P	565;324;483;538;505	ENSP00000323811:R565P;ENSP00000395278:R324P;ENSP00000403656:R483P;ENSP00000390699:R538P;ENSP00000404883:R505P	ENSP00000323811:R565P	R	-	2	0	HACL1	15579879	0.994000	0.37717	0.568000	0.28447	0.925000	0.55904	4.108000	0.57817	2.756000	0.94617	0.561000	0.74099	CGG	C|1.000;T|0.000		0.453	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260	
HCAR1	27198	ucsc.edu;bcgsc.ca	37	12	123214801	123214801	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:123214801C>T	ENST00000436083.2	-	1	589	c.86G>A	c.(85-87)gGc>gAc	p.G29D	HCAR1_ENST00000356987.2_Missense_Mutation_p.G29D|HCAR1_ENST00000432564.1_Missense_Mutation_p.G29D			Q9BXC0	HCAR1_HUMAN	hydroxycarboxylic acid receptor 1	29					response to estradiol (GO:0032355)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G29D(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	10						GCCTAGTGCGCCCAGCACAAA	0.587																																					p.G29D		.											.	HCAR1	156	1	Substitution - Missense(1)	skin(1)	c.G86A						.						70.0	59.0	63.0					12																	123214801		2203	4300	6503	SO:0001583	missense	27198	exon1			AGTGCGCCCAGCA	AF411110	CCDS9236.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000196917	ENSG00000196917		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	4532	protein-coding gene	gene with protein product	"""lactate receptor 1"""	606923	"""G protein-coupled receptor 104"", ""G protein-coupled receptor 81"""	GPR104, GPR81		11574155, 19047060, 18952058, 21454438	Standard	NM_032554		Approved	HCA1, FKSG80, TA-GPCR, LACR1	uc001ucz.3	Q9BXC0		ENST00000436083.2:c.86G>A	12.37:g.123214801C>T	ENSP00000409980:p.Gly29Asp	41.0	0.0		43.0	4.0	NM_032554	B2R9X4|Q3Y5J3|Q4VBN1|Q6NXU5	Missense_Mutation	SNP	ENST00000436083.2	37	CCDS9236.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.450084	0.63290	.	.	ENSG00000196917	ENST00000356987;ENST00000432564;ENST00000436083	T;T;T	0.53857	0.6;0.6;0.6	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000001	T	0.81475	0.4830	H	0.96142	3.775	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.87465	0.2410	10	0.87932	D	0	-4.7704	16.4148	0.83730	0.0:1.0:0.0:0.0	.	29	Q9BXC0	HCAR1_HUMAN	D	29	ENSP00000349478:G29D;ENSP00000389255:G29D;ENSP00000409980:G29D	ENSP00000349478:G29D	G	-	2	0	HCAR1	121780754	0.999000	0.42202	0.122000	0.21767	0.210000	0.24377	4.346000	0.59367	2.476000	0.83614	0.563000	0.77884	GGC	.		0.587	HCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401415.1		
HELQ	113510	ucsc.edu;bcgsc.ca	37	4	84353404	84353404	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:84353404G>T	ENST00000295488.3	-	10	2227	c.2065C>A	c.(2065-2067)Ccc>Acc	p.P689T	HELQ_ENST00000510985.1_Missense_Mutation_p.P622T	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	689	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GCAACATAGGGAGCTCTTAAA	0.318								Other identified genes with known or suspected DNA repair function																													p.P689T		.											.	HELQ	155	0			c.C2065A						.						71.0	75.0	74.0					4																	84353404		2203	4300	6503	SO:0001583	missense	113510	exon10			CATAGGGAGCTCT	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2065C>A	4.37:g.84353404G>T	ENSP00000295488:p.Pro689Thr	45.0	0.0		39.0	4.0	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305402	0.81247	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.74421	-0.84;-0.84	5.16	5.16	0.70880	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	L	0.43757	1.38	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.73708	0.981;0.973	T	0.75365	-0.3343	10	0.15066	T	0.55	-48.2804	18.6557	0.91453	0.0:0.0:1.0:0.0	.	622;689	E3W980;Q8TDG4	.;HELQ_HUMAN	T	689;622	ENSP00000295488:P689T;ENSP00000424539:P622T	ENSP00000295488:P689T	P	-	1	0	HELQ	84572428	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.441000	0.97557	2.417000	0.82017	0.561000	0.74099	CCC	.		0.318	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
HIPK4	147746	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	40895613	40895613	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:40895613T>C	ENST00000291823.2	-	1	481	c.197A>G	c.(196-198)gAc>gGc	p.D66G		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	66	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTCTTCAGGGTCTAGGCCTCG	0.547																																					p.D66G		.											.	HIPK4	334	0			c.A197G						.						160.0	141.0	147.0					19																	40895613		2203	4300	6503	SO:0001583	missense	147746	exon1			TCAGGGTCTAGGC	BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.197A>G	19.37:g.40895613T>C	ENSP00000291823:p.Asp66Gly	118.0	0.0		70.0	33.0	NM_144685	A8K863|Q96M54	Missense_Mutation	SNP	ENST00000291823.2	37	CCDS12555.1	.	.	.	.	.	.	.	.	.	.	T	18.48	3.633943	0.67130	.	.	ENSG00000160396	ENST00000291823;ENST00000452139	T	0.20738	2.05	4.76	4.76	0.60689	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000060	T	0.40119	0.1104	M	0.79343	2.45	0.40835	D	0.983623	D	0.56746	0.977	P	0.60012	0.867	T	0.40194	-0.9576	10	0.87932	D	0	.	8.1293	0.31018	0.0:0.0917:0.0:0.9083	.	66	Q8NE63	HIPK4_HUMAN	G	66;31	ENSP00000291823:D66G	ENSP00000291823:D66G	D	-	2	0	HIPK4	45587453	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	4.587000	0.60991	1.987000	0.57996	0.460000	0.39030	GAC	.		0.547	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462593.1	NM_144685	
HMBS	3145	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	118963906	118963907	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:118963906_118963907delCT	ENST00000278715.3	+	14	1150_1151	c.999_1000delCT	c.(997-1002)aacttgfs	p.L334fs	HMBS_ENST00000543090.1_Frame_Shift_Del_p.L303fs|HMBS_ENST00000442944.2_Frame_Shift_Del_p.L317fs|HMBS_ENST00000544387.1_Frame_Shift_Del_p.L294fs|HMBS_ENST00000392841.1_Frame_Shift_Del_p.L317fs|HMBS_ENST00000537841.1_Frame_Shift_Del_p.L317fs|HMBS_ENST00000542729.1_Frame_Shift_Del_p.L277fs	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	334					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CTGCCCAGAACTTGGGCATCAG	0.545																																					p.333_334del		.											.	HMBS	90	0			c.999_1000del	GRCh37	CD085816	HMBS	D		.																																			SO:0001589	frameshift_variant	3145	exon14			CCAGAACTTGGGC	X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.999_1000delCT	11.37:g.118963906_118963907delCT	ENSP00000278715:p.Leu334fs	26.0	0.0		31.0	14.0	NM_000190	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Frame_Shift_Del	DEL	ENST00000278715.3	37	CCDS8409.1																																																																																			.		0.545	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190	
HMCN1	83872	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	186097385	186097385	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:186097385C>T	ENST00000271588.4	+	83	13095	c.12866C>T	c.(12865-12867)cCc>cTc	p.P4289L	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4289L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4289	Ig-like C2-type 42.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTCCATTGCCCAAATTAACA	0.378																																					p.P4289L		.											.	HMCN1	113	0			c.C12866T						.						89.0	84.0	86.0					1																	186097385		2203	4300	6503	SO:0001583	missense	83872	exon83			CATTGCCCAAATT	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.12866C>T	1.37:g.186097385C>T	ENSP00000271588:p.Pro4289Leu	37.0	0.0		57.0	23.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000600	0.93227	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.71461	-0.57;-0.57	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89150	0.6633	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89548	0.3797	10	0.27785	T	0.31	.	19.0722	0.93143	0.0:1.0:0.0:0.0	.	4289	Q96RW7	HMCN1_HUMAN	L	4289	ENSP00000271588:P4289L;ENSP00000356462:P4289L	ENSP00000271588:P4289L	P	+	2	0	HMCN1	184364008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.469000	0.80959	2.502000	0.84385	0.585000	0.79938	CCC	.		0.378	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HNRNPUL2	221092	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	62491884	62491884	+	Missense_Mutation	SNP	T	T	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:62491884T>G	ENST00000301785.5	-	2	745	c.553A>C	c.(553-555)Agt>Cgt	p.S185R	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.S185R	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	185	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GACTTTTCACTATCCTGGTCA	0.458																																					p.S185R		.											.	HNRNPUL2	22	0			c.A553C						.						105.0	103.0	104.0					11																	62491884		1875	4120	5995	SO:0001583	missense	221092	exon2			TTTCACTATCCTG		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.553A>C	11.37:g.62491884T>G	ENSP00000301785:p.Ser185Arg	122.0	0.0		88.0	42.0	NM_001079559	Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091707	0.36952	.	.	ENSG00000214753	ENST00000301785	T	0.43294	0.95	5.08	5.08	0.68730	.	0.541134	0.20885	N	0.083924	T	0.22975	0.0555	N	0.14661	0.345	0.36983	D	0.894393	P	0.39551	0.678	B	0.33799	0.17	T	0.18681	-1.0329	10	0.15499	T	0.54	-9.8168	12.8404	0.57800	0.0:0.0:0.0:1.0	.	185	Q1KMD3	HNRL2_HUMAN	R	185	ENSP00000301785:S185R	ENSP00000301785:S185R	S	-	1	0	HNRNPUL2	62248460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.933000	0.40153	2.140000	0.66376	0.533000	0.62120	AGT	.		0.458	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	
IFT172	26160	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	27688641	27688641	+	Missense_Mutation	SNP	T	T	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:27688641T>G	ENST00000260570.3	-	17	1904	c.1801A>C	c.(1801-1803)Aca>Cca	p.T601P		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	601					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCAATGGCTGTTCCAAACTCG	0.567																																					p.T601P		.											.	IFT172	154	0			c.A1801C						.						389.0	367.0	375.0					2																	27688641		2203	4300	6503	SO:0001583	missense	26160	exon17			TGGCTGTTCCAAA	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1801A>C	2.37:g.27688641T>G	ENSP00000260570:p.Thr601Pro	75.0	0.0		67.0	33.0	NM_015662	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	T	31	5.065895	0.93898	.	.	ENSG00000138002	ENST00000260570	T	0.63580	-0.05	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.79215	0.4408	M	0.85373	2.75	0.80722	D	1	D	0.64830	0.994	P	0.61800	0.894	T	0.82916	-0.0220	10	0.72032	D	0.01	-10.8715	14.679	0.69004	0.0:0.0:0.0:1.0	.	601	Q9UG01	IF172_HUMAN	P	601	ENSP00000260570:T601P	ENSP00000260570:T601P	T	-	1	0	IFT172	27542145	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.281000	0.78621	2.157000	0.67596	0.533000	0.62120	ACA	.		0.567	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	
IGF1R	3480	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	99491869	99491869	+	Missense_Mutation	SNP	C	C	G	rs45598038		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr15:99491869C>G	ENST00000268035.6	+	20	4265	c.3654C>G	c.(3652-3654)aaC>aaG	p.N1218K	IGF1R_ENST00000558762.1_Missense_Mutation_p.N1217K	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1218	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GCTTGTCCAACGAGCAAGTCC	0.582																																					p.N1218K		.											.	IGF1R	1490	0			c.C3654G						.						114.0	109.0	111.0					15																	99491869		2197	4297	6494	SO:0001583	missense	3480	exon20			GTCCAACGAGCAA	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3654C>G	15.37:g.99491869C>G	ENSP00000268035:p.Asn1218Lys	27.0	0.0		31.0	14.0	NM_000875	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027816	0.75390	.	.	ENSG00000140443	ENST00000268035	D	0.82984	-1.67	5.83	-0.179	0.13299	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	D	0.88738	0.6518	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	D	0.87233	0.2261	10	0.87932	D	0	.	10.1026	0.42513	0.0:0.3813:0.0:0.6187	.	1217;1218	C9J5X1;P08069	.;IGF1R_HUMAN	K	1218	ENSP00000268035:N1218K	ENSP00000268035:N1218K	N	+	3	2	IGF1R	97309392	0.027000	0.19231	0.999000	0.59377	0.993000	0.82548	-0.778000	0.04664	0.061000	0.16311	-0.254000	0.11334	AAC	.		0.582	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
INHBE	83729	ucsc.edu;bcgsc.ca	37	12	57849918	57849918	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:57849918T>C	ENST00000266646.2	+	2	556	c.340T>C	c.(340-342)Tcc>Ccc	p.S114P	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	114					growth (GO:0040007)	extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TTTTCACCTGTCCACTCCTCG	0.562											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S114P	GBM(191;1808 2166 15720 36624 50371)	.											.	INHBE	577	0			c.T340C						.						173.0	172.0	172.0					12																	57849918		2203	4300	6503	SO:0001583	missense	83729	exon2			CACCTGTCCACTC		CCDS8939.1	12q13.2	2008-02-05				ENSG00000139269			24029	protein-coding gene	gene with protein product		612031				12242034	Standard	NM_031479		Approved	activin, MGC4638	uc001snw.3	P58166		ENST00000266646.2:c.340T>C	12.37:g.57849918T>C	ENSP00000266646:p.Ser114Pro	55.0	1.0	1026	45.0	5.0	NM_031479		Missense_Mutation	SNP	ENST00000266646.2	37	CCDS8939.1	.	.	.	.	.	.	.	.	.	.	T	9.036	0.988440	0.18966	.	.	ENSG00000139269	ENST00000547970;ENST00000266646	D;T	0.83419	-1.72;-0.78	4.37	-1.39	0.08997	Transforming growth factor-beta, N-terminal (1);	0.459508	0.22842	N	0.054974	T	0.78438	0.4283	M	0.78637	2.42	0.28823	N	0.897585	B	0.13145	0.007	B	0.20767	0.031	T	0.68561	-0.5376	10	0.51188	T	0.08	-9.2107	5.9431	0.19203	0.0:0.1133:0.5371:0.3496	.	114	P58166	INHBE_HUMAN	P	59;114	ENSP00000450212:S59P;ENSP00000266646:S114P	ENSP00000266646:S114P	S	+	1	0	INHBE	56136185	0.996000	0.38824	0.941000	0.38009	0.295000	0.27426	0.442000	0.21628	-0.310000	0.08766	-0.460000	0.05396	TCC	.		0.562	INHBE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406773.1	NM_031479	
JAK3	3718	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	19	17950393	17950393	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:17950393C>T	ENST00000527670.1	-	9	1363	c.1334G>A	c.(1333-1335)cGa>cAa	p.R445Q	JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Missense_Mutation_p.R445Q|JAK3_ENST00000458235.1_Missense_Mutation_p.R445Q			P52333	JAK3_HUMAN	Janus kinase 3	445	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GCTGTGGGGTCGGCTGAGGCC	0.612		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																p.R445Q		.		Dom	yes		19	19p13.1	3718	Janus kinase 3		L	.	JAK3	2418	0			c.G1334A						.						36.0	31.0	33.0					19																	17950393		2203	4300	6503	SO:0001583	missense	3718	exon10			TGGGGTCGGCTGA	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1334G>A	19.37:g.17950393C>T	ENSP00000432511:p.Arg445Gln	15.0	0.0		20.0	8.0	NM_000215	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	C	4.419	0.077400	0.08485	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.26518	1.73;1.73;1.73	3.7	-1.12	0.09808	SH2 motif (2);	0.386456	0.26297	N	0.025183	T	0.12390	0.0301	N	0.19112	0.55	0.09310	N	1	B;B;B	0.23891	0.093;0.085;0.023	B;B;B	0.15870	0.011;0.014;0.003	T	0.14811	-1.0459	10	0.42905	T	0.14	-4.1589	6.6306	0.22855	0.0:0.511:0.0:0.489	.	445;445;445	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	Q	445	ENSP00000391676:R445Q;ENSP00000432511:R445Q;ENSP00000436421:R445Q	ENSP00000413248:R445Q	R	-	2	0	JAK3	17811393	0.000000	0.05858	0.098000	0.21074	0.002000	0.02628	-0.150000	0.10189	-0.030000	0.13804	-0.463000	0.05309	CGA	.		0.612	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
KAT6B	23522	ucsc.edu;bcgsc.ca	37	10	76603214	76603214	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr10:76603214T>C	ENST00000287239.4	+	3	1088	c.599T>C	c.(598-600)cTt>cCt	p.L200P	KAT6B_ENST00000372711.1_Missense_Mutation_p.L200P|KAT6B_ENST00000372725.1_Missense_Mutation_p.L200P|KAT6B_ENST00000372714.1_Missense_Mutation_p.L200P|KAT6B_ENST00000372724.1_Missense_Mutation_p.L200P	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	200					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CCTGTCAGCCTTCTACCCCAT	0.483																																					p.L200P		.											.	.	.	0			c.T599C						.						70.0	69.0	69.0					10																	76603214		2203	4300	6503	SO:0001583	missense	23522	exon3			TCAGCCTTCTACC	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.599T>C	10.37:g.76603214T>C	ENSP00000287239:p.Leu200Pro	52.0	0.0		43.0	4.0	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.724995	0.48833	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78816	-1.15;-1.15;-1.21;-1.15;-1.17	5.79	5.79	0.91817	.	0.000000	0.41500	D	0.000863	D	0.87055	0.6082	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.88177	0.2868	10	0.72032	D	0.01	-8.0189	16.1325	0.81454	0.0:0.0:0.0:1.0	.	200;200;200	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	P	200	ENSP00000361810:L200P;ENSP00000361809:L200P;ENSP00000287239:L200P;ENSP00000361799:L200P;ENSP00000361796:L200P	ENSP00000287239:L200P	L	+	2	0	KAT6B	76273220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.219000	0.72066	0.460000	0.39030	CTT	.		0.483	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
KCNA7	3743	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	49573841	49573841	+	Missense_Mutation	SNP	G	G	A	rs546430763		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:49573841G>A	ENST00000221444.1	-	2	1205	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	284					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CGGAAGACACGCACCAATCGG	0.627																																					p.R284C	Colon(74;686 1235 3793 23366 48562)	.											.	KCNA7	90	0			c.C850T						.						84.0	78.0	80.0					19																	49573841		2203	4300	6503	SO:0001583	missense	3743	exon2			AGACACGCACCAA	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.850C>T	19.37:g.49573841G>A	ENSP00000221444:p.Arg284Cys	33.0	0.0		28.0	7.0	NM_031886	A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	37	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243894	0.58995	.	.	ENSG00000104848	ENST00000221444	D	0.99652	-6.3	4.54	3.47	0.39725	Ion transport (1);	0.102964	0.64402	D	0.000008	D	0.99785	0.9910	H	0.99273	4.495	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.97373	0.9977	10	0.87932	D	0	.	10.7412	0.46154	0.0:0.0:0.5281:0.4719	.	284	Q96RP8	KCNA7_HUMAN	C	284	ENSP00000221444:R284C	ENSP00000221444:R284C	R	-	1	0	KCNA7	54265653	0.133000	0.22466	1.000000	0.80357	0.986000	0.74619	0.466000	0.22019	1.003000	0.39130	0.491000	0.48974	CGT	.		0.627	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886	
KCNH8	131096	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	19554731	19554731	+	Silent	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr3:19554731C>T	ENST00000328405.2	+	13	2615	c.2349C>T	c.(2347-2349)ccC>ccT	p.P783P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	783					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)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAATTGACCCCCCCAACCATA	0.458																																					p.P783P	NSCLC(124;1625 1765 8018 24930 42026)	.											.	KCNH8	524	0			c.C2349T						.						80.0	87.0	85.0					3																	19554731		2203	4300	6503	SO:0001819	synonymous_variant	131096	exon13			TGACCCCCCCAAC	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2349C>T	3.37:g.19554731C>T		130.0	0.0		99.0	31.0	NM_144633	B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	CCDS2632.1																																																																																			.		0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
KCTD5	54442	ucsc.edu;bcgsc.ca	37	16	2732726	2732726	+	Silent	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr16:2732726G>A	ENST00000301738.4	+	1	251	c.177G>A	c.(175-177)cgG>cgA	p.R59R	KCTD5_ENST00000564195.1_Silent_p.R59R	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	59	BTB.				protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						TCACCACTCGGCAGACCCTGT	0.692																																					p.R59R	Ovarian(56;981 1456 4301 50892)	.											.	KCTD5	90	0			c.G177A						.						43.0	40.0	41.0					16																	2732726		2198	4300	6498	SO:0001819	synonymous_variant	54442	exon1			CACTCGGCAGACC	AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.177G>A	16.37:g.2732726G>A		61.0	0.0		43.0	4.0	NM_018992	D3DU96	Silent	SNP	ENST00000301738.4	37	CCDS10475.1																																																																																			.		0.692	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250909.2	NM_018992	
KIAA1033	23325	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	105557965	105557965	+	Silent	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:105557965G>A	ENST00000332180.5	+	31	3321	c.3234G>A	c.(3232-3234)gaG>gaA	p.E1078E	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CTGTTAGAGAGAAATACCTGA	0.418																																					p.E1078E		.											.	KIAA1033	91	0			c.G3234A						.						130.0	119.0	122.0					12																	105557965		1876	4110	5986	SO:0001819	synonymous_variant	23325	exon31			TAGAGAGAAATAC	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3234G>A	12.37:g.105557965G>A		106.0	0.0		77.0	31.0	NM_015275		Silent	SNP	ENST00000332180.5	37	CCDS41826.1																																																																																			.		0.418	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275	
NWD2	57495	broad.mit.edu;bcgsc.ca	37	4	37440708	37440708	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:37440708C>A	ENST00000309447.5	+	6	1840	c.992C>A	c.(991-993)tCc>tAc	p.S331Y		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		331										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						CTAGGCTACTCCCAAGAAATA	0.343																																					p.S331Y		.											.	.	.	0			c.C992A						.						102.0	93.0	96.0					4																	37440708		692	1591	2283	SO:0001583	missense	57495	exon6			GCTACTCCCAAGA																												ENST00000309447.5:c.992C>A	4.37:g.37440708C>A	ENSP00000309501:p.Ser331Tyr	56.0	0.0		96.0	7.0	NM_001144990	A8MRU1	Missense_Mutation	SNP	ENST00000309447.5	37	CCDS47040.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515796	0.85495	.	.	ENSG00000174145	ENST00000309447	D	0.81499	-1.5	5.6	5.6	0.85130	.	0.000000	0.53938	U	0.000041	T	0.80592	0.4652	L	0.27053	0.805	0.58432	D	0.999997	D	0.55385	0.971	P	0.52159	0.691	T	0.82880	-0.0238	10	0.72032	D	0.01	.	19.6229	0.95667	0.0:1.0:0.0:0.0	.	331	Q9ULI1	K1239_HUMAN	Y	331	ENSP00000309501:S331Y	ENSP00000309501:S331Y	S	+	2	0	KIAA1239	37117103	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.487000	0.81328	2.648000	0.89879	0.561000	0.74099	TCC	.		0.343	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347551.2		
KRT1	3848	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	53071186	53071186	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:53071186C>A	ENST00000252244.3	-	5	1100	c.1042G>T	c.(1042-1044)Gac>Tac	p.D348Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	348	Linker 12.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ATGATGCTGTCCAGGTCGAGA	0.493																																					p.D348Y		.											.	KRT1	92	0			c.G1042T						.						130.0	121.0	124.0					12																	53071186		2203	4300	6503	SO:0001583	missense	3848	exon5			TGCTGTCCAGGTC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1042G>T	12.37:g.53071186C>A	ENSP00000252244:p.Asp348Tyr	64.0	0.0		57.0	26.0	NM_006121	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951589	0.53186	.	.	ENSG00000167768	ENST00000252244	D	0.83673	-1.75	5.22	0.0563	0.14319	Filament (1);	.	.	.	.	D	0.92835	0.7721	H	0.98466	4.24	0.38381	D	0.945122	D	0.89917	1.0	D	0.91635	0.999	D	0.89538	0.3790	9	0.87932	D	0	.	5.7045	0.17901	0.1216:0.537:0.0:0.3414	.	348	P04264	K2C1_HUMAN	Y	348	ENSP00000252244:D348Y	ENSP00000252244:D348Y	D	-	1	0	KRT1	51357453	0.929000	0.31497	0.887000	0.34795	0.800000	0.45204	0.456000	0.21859	0.037000	0.15575	-1.202000	0.01658	GAC	.		0.493	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121	
LAMA4	3910	ucsc.edu;bcgsc.ca	37	6	112513042	112513042	+	Missense_Mutation	SNP	C	C	A	rs147695488	byFrequency	TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:112513042C>A	ENST00000230538.7	-	6	911	c.514G>T	c.(514-516)Ggt>Tgt	p.G172C	LAMA4_ENST00000424408.2_Missense_Mutation_p.G172C|LAMA4_ENST00000522006.1_Missense_Mutation_p.G172C|LAMA4_ENST00000389463.4_Missense_Mutation_p.G172C|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	172	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCATAGTAACCGGGAGCACAT	0.378																																					p.G172C		.											.	LAMA4	140	0			c.G514T						.						56.0	53.0	54.0					6																	112513042		2203	4300	6503	SO:0001583	missense	3910	exon6			AGTAACCGGGAGC		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.514G>T	6.37:g.112513042C>A	ENSP00000230538:p.Gly172Cys	41.0	0.0		44.0	4.0	NM_001105206	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.960073	0.92791	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408;ENST00000454881;ENST00000521398;ENST00000542588	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.78	5.78	0.91487	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91673	0.5352	10	0.87932	D	0	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	172;172	Q16363;Q16363-2	LAMA4_HUMAN;.	C	172	ENSP00000230538:G172C;ENSP00000429488:G172C;ENSP00000374114:G172C;ENSP00000416470:G172C;ENSP00000430336:G172C	ENSP00000230538:G172C	G	-	1	0	LAMA4	112619735	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.452000	0.80683	2.724000	0.93272	0.563000	0.77884	GGT	C|0.999;T|0.001		0.378	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
LIPA	3988	ucsc.edu;bcgsc.ca	37	10	91007405	91007405	+	Splice_Site	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr10:91007405T>C	ENST00000336233.5	-	2	323	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	LIPA_ENST00000456827.1_Splice_Site_p.M1V|LIPA_ENST00000371837.1_Intron			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	1					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CGCATTTTCATTCTGTATAAT	0.388																																					p.M1V		.											.	LIPA	90	0			c.A1G						.						76.0	77.0	76.0					10																	91007405		2203	4300	6503	SO:0001630	splice_region_variant	3988	exon2			TTTTCATTCTGTA	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.0-1A>G	10.37:g.91007405T>C		51.0	0.0		37.0	4.0	NM_000235	B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.327548	0.24080	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	T;T;T;T	0.75260	-0.32;-0.32;-0.2;-0.92	4.49	3.36	0.38483	.	.	.	.	.	T	0.61515	0.2353	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52238	-0.8602	8	0.46703	T	0.11	.	6.8652	0.24091	0.0:0.1049:0.0:0.8951	.	1	P38571	LICH_HUMAN	V	1	ENSP00000337354:M1V;ENSP00000413019:M1V;ENSP00000388415:M1V;ENSP00000282673:M1V	ENSP00000282673:M1V	M	-	1	0	LIPA	90997385	0.992000	0.36948	0.723000	0.30687	0.932000	0.56968	0.849000	0.27723	0.889000	0.36185	0.454000	0.30748	ATG	.		0.388	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235	Missense_Mutation
LPO	4025	ucsc.edu;bcgsc.ca	37	17	56329584	56329584	+	Silent	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:56329584C>T	ENST00000262290.4	+	8	1138	c.822C>T	c.(820-822)tgC>tgT	p.C274C	LPO_ENST00000582328.1_Silent_p.C191C|LPO_ENST00000421678.2_Silent_p.C191C|LPO_ENST00000543544.1_Silent_p.C215C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	274					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AAGGGAAATGCATGCCTTTCT	0.602																																					p.C274C		.											.	LPO	91	0			c.C822T						.						99.0	85.0	90.0					17																	56329584		2203	4300	6503	SO:0001819	synonymous_variant	4025	exon8			GAAATGCATGCCT	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.822C>T	17.37:g.56329584C>T		50.0	0.0		46.0	4.0	NM_006151	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	CCDS32689.1																																																																																			.		0.602	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1		
MACF1	23499	ucsc.edu;bcgsc.ca	37	1	39818706	39818706	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:39818706A>G	ENST00000372915.3	+	43	11329	c.11242A>G	c.(11242-11244)Aac>Gac	p.N3748D	MACF1_ENST00000564288.1_Missense_Mutation_p.N3743D|MACF1_ENST00000545844.1_Missense_Mutation_p.N1681D|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000361689.2_Missense_Mutation_p.N1681D|MACF1_ENST00000317713.7_Missense_Mutation_p.N1681D|MACF1_ENST00000289893.4_Missense_Mutation_p.N2183D|MACF1_ENST00000539005.1_Missense_Mutation_p.N1681D|MACF1_ENST00000567887.1_Missense_Mutation_p.N3780D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3748					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)			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)			ACTGGCAGAGAACAAGAAGAA	0.483																																					p.N1681D		.											.	MACF1	165	0			c.A5041G						.						90.0	78.0	82.0					1																	39818706		2203	4300	6503	SO:0001583	missense	23499	exon40			GCAGAGAACAAGA	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.11242A>G	1.37:g.39818706A>G	ENSP00000362006:p.Asn3748Asp	47.0	0.0		46.0	4.0	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.94|19.94	3.920304|3.920304	0.73098|0.73098	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893	T|T;T;T;T;T;D;T	0.55413|0.87809	0.52|0.02;0.02;0.02;-0.01;0.16;-2.3;1.1	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	.|0.000000	.|0.64402	.|D	.|0.000002	D|D	0.91209|0.91209	0.7230|0.7230	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;P;P;P	.|0.67145	.|0.996;0.723;0.856;0.841	.|D;P;P;P	.|0.64687	.|0.928;0.62;0.62;0.62	D|D	0.90621|0.90621	0.4559|0.4559	7|10	0.54805|0.39692	T|T	0.06|0.17	.|.	15.6651|15.6651	0.77225|0.77225	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|3748;1681;1681;1646	.|Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3	.|MACF1_HUMAN;.;.;.	G|D	814|1681;3748;1681;1681;1681;1830;2183	ENSP00000362016:E814G|ENSP00000439537:N1681D;ENSP00000362006:N3748D;ENSP00000354573:N1681D;ENSP00000313438:N1681D;ENSP00000444364:N1681D;ENSP00000437059:N1830D;ENSP00000289893:N2183D	ENSP00000362016:E814G|ENSP00000289893:N2183D	E|N	+|+	2|1	0|0	MACF1|MACF1	39591293|39591293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.842000|0.842000	0.47809|0.47809	6.432000|6.432000	0.73400|0.73400	2.095000|2.095000	0.63458|0.63458	0.454000|0.454000	0.30748|0.30748	GAA|AAC	.		0.483	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
MAPKAPK2	9261	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	206902164	206902166	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:206902164_206902166delGGA	ENST00000367103.3	+	2	582_584	c.389_391delGGA	c.(388-393)gggagg>ggg	p.R131del	MAPKAPK2_ENST00000294981.4_In_Frame_Del_p.R131del	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTGTACGCAGGGAGGAAGTGCCT	0.611																																					p.130_131del		.											.	MAPKAPK2	1214	0			c.389_391del						.																																			SO:0001651	inframe_deletion	9261	exon2			ACGCAGGGAGGAA	U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.389_391delGGA	1.37:g.206902167_206902169delGGA	ENSP00000356070:p.Arg131del	74.0	0.0		62.0	15.0	NM_004759	Q5SY30|Q5SY41|Q8IYD6	In_Frame_Del	DEL	ENST00000367103.3	37	CCDS31001.1																																																																																			.		0.611	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088465.1	NM_004759	
MED12	9968	ucsc.edu;bcgsc.ca	37	X	70349266	70349266	+	Silent	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chrX:70349266T>C	ENST00000374080.3	+	26	3710	c.3678T>C	c.(3676-3678)gcT>gcC	p.A1226A	MED12_ENST00000333646.6_Silent_p.A1226A|MED12_ENST00000374102.1_Silent_p.A1226A			Q93074	MED12_HUMAN	mediator complex subunit 12	1226					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCTCAAGGCTGTGTTTGTAC	0.562			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A1226A		.		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	.	MED12	272	0			c.T3678C						.						45.0	47.0	47.0					X																	70349266		2081	4185	6266	SO:0001819	synonymous_variant	9968	exon26			CAAGGCTGTGTTT	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3678T>C	X.37:g.70349266T>C		75.0	0.0	1121	47.0	4.0	NM_005120	O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	CCDS43970.1																																																																																			.		0.562	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
MLXIP	22877	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	122614579	122614579	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:122614579T>C	ENST00000319080.7	+	6	962	c.830T>C	c.(829-831)cTc>cCc	p.L277P	MLXIP_ENST00000538698.1_5'Flank					MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ACAGACATGCTCATGTCGGAA	0.567																																					p.L277P	Esophageal Squamous(105;787 1493 16200 18566 52466)	.											.	MLXIP	92	0			c.T830C						.						69.0	73.0	72.0					12																	122614579		2063	4202	6265	SO:0001583	missense	22877	exon6			ACATGCTCATGTC	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.830T>C	12.37:g.122614579T>C	ENSP00000312834:p.Leu277Pro	62.0	1.0		66.0	31.0	NM_014938		Missense_Mutation	SNP	ENST00000319080.7	37		.	.	.	.	.	.	.	.	.	.	T	24.5	4.537106	0.85812	.	.	ENSG00000175727	ENST00000319080;ENST00000535430	T;T	0.38887	2.13;1.11	5.39	4.24	0.50183	.	0.000000	0.64402	D	0.000001	T	0.63307	0.2500	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.66027	-0.6025	9	0.87932	D	0	-33.7459	11.0733	0.48016	0.0:0.0727:0.0:0.9273	.	277;277	Q9HAP2-3;Q9HAP2	.;MLXIP_HUMAN	P	277;28	ENSP00000312834:L277P;ENSP00000438206:L28P	ENSP00000312834:L277P	L	+	2	0	MLXIP	121180532	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.975000	0.88055	0.889000	0.36185	0.459000	0.35465	CTC	.		0.567	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938	
MOB2	81532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	1491556	1491556	+	Missense_Mutation	SNP	C	C	T	rs565130082	byFrequency	TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:1491556C>T	ENST00000329957.6	-	5	842	c.653G>A	c.(652-654)cGg>cAg	p.R218Q	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	187					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						GTTGAACTCCCGAGCAAAGAG	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		14614	0.002		0.0	False		,,,				2504	0.0				p.R218Q		.											.	.	.	0			c.G653A						.						124.0	134.0	131.0					11																	1491556		2107	4223	6330	SO:0001583	missense	81532	exon5			AACTCCCGAGCAA		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.653G>A	11.37:g.1491556C>T	ENSP00000328694:p.Arg218Gln	86.0	0.0		61.0	24.0	NM_001172223	B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877643	0.51801	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.18	4.18	0.49190	.	0.055833	0.64402	D	0.000005	T	0.60945	0.2308	L	0.28400	0.85	0.80722	D	1	P;D	0.89917	0.784;1.0	B;D	0.72982	0.364;0.979	T	0.54057	-0.8350	9	0.06757	T	0.87	-38.8627	16.7007	0.85349	0.0:1.0:0.0:0.0	.	218;187	E9PDA5;Q70IA6	.;MOB2_HUMAN	Q	218	.	ENSP00000328694:R218Q	R	-	2	0	AC091196.1	1448132	1.000000	0.71417	0.791000	0.31998	0.346000	0.29079	7.154000	0.77437	2.176000	0.68965	0.563000	0.77884	CGG	.		0.627	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005	
MPP6	51678	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	24705683	24705683	+	Missense_Mutation	SNP	G	G	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr7:24705683G>C	ENST00000222644.5	+	8	1177	c.927G>C	c.(925-927)atG>atC	p.M309I	MPP6_ENST00000396475.2_Missense_Mutation_p.M309I|MPP6_ENST00000409761.1_Missense_Mutation_p.M197I			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.M309I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGAAAAAGATGATGTATCTCA	0.303																																					p.M309I		.											.	MPP6	90	1	Substitution - Missense(1)	lung(1)	c.G927C						.						92.0	107.0	102.0					7																	24705683		2197	4293	6490	SO:0001583	missense	51678	exon9			AAAGATGATGTAT	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.927G>C	7.37:g.24705683G>C	ENSP00000222644:p.Met309Ile	76.0	0.0		87.0	40.0	NM_016447	B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624452	0.46840	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	D;D;D	0.82167	-1.58;-1.58;-1.58	5.32	5.32	0.75619	Src homology-3 domain (1);	0.000000	0.64402	D	0.000002	T	0.73877	0.3643	N	0.16743	0.435	0.80722	D	1	B	0.17268	0.021	B	0.12156	0.007	T	0.67707	-0.5601	10	0.36615	T	0.2	.	18.9769	0.92740	0.0:0.0:1.0:0.0	.	309	Q9NZW5	MPP6_HUMAN	I	309;197;309	ENSP00000222644:M309I;ENSP00000386262:M197I;ENSP00000379737:M309I	ENSP00000222644:M309I	M	+	3	0	MPP6	24672208	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.794000	0.85869	2.477000	0.83638	0.591000	0.81541	ATG	.		0.303	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
MRPL21	219927	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	68664055	68664055	+	Silent	SNP	C	C	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:68664055C>G	ENST00000362034.2	-	4	333	c.324G>C	c.(322-324)gtG>gtC	p.V108V	MRPL21_ENST00000450904.2_Silent_p.V23V|MRPL21_ENST00000567045.1_Silent_p.V23V	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	108					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTTCAGAGGTCACCTTCCACT	0.527																																					p.V108V		.											.	MRPL21	90	0			c.G324C						.						163.0	152.0	156.0					11																	68664055		2200	4294	6494	SO:0001819	synonymous_variant	219927	exon4			AGAGGTCACCTTC	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.324G>C	11.37:g.68664055C>G		77.0	0.0		69.0	30.0	NM_181514	A6NKU0|C9JPR2	Silent	SNP	ENST00000362034.2	37	CCDS8186.1																																																																																			.		0.527	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512	
MRGPRF	116535	ucsc.edu;bcgsc.ca	37	11	68773098	68773098	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:68773098C>T	ENST00000309099.6	-	3	1062	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	MRGPRF_ENST00000441623.1_Missense_Mutation_p.R227Q|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	227						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCGTCGGGCCCGGCACTCCAC	0.632																																					p.R227Q		.											.	MRGPRF	90	0			c.G680A						.						30.0	24.0	26.0					11																	68773098		2175	4260	6435	SO:0001583	missense	116535	exon3			CGGGCCCGGCACT	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.680G>A	11.37:g.68773098C>T	ENSP00000309782:p.Arg227Gln	61.0	0.0		60.0	5.0	NM_001098515	B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.397568	0.83120	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.72835	-0.69;-0.69	5.25	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37577	N	0.002025	T	0.75810	0.3900	L	0.50333	1.59	0.24303	N	0.995112	D	0.76494	0.999	D	0.65573	0.936	T	0.65434	-0.6169	10	0.21014	T	0.42	-20.3783	11.3124	0.49372	0.1818:0.8182:0.0:0.0	.	227	Q96AM1	MRGRF_HUMAN	Q	227;227;199	ENSP00000403660:R227Q;ENSP00000309782:R227Q	ENSP00000309782:R227Q	R	-	2	0	MRGPRF	68529674	0.002000	0.14202	0.933000	0.37362	0.986000	0.74619	1.645000	0.37238	1.199000	0.43173	0.561000	0.74099	CGG	.		0.632	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015	
MTMR1	8776	ucsc.edu;bcgsc.ca	37	X	149905905	149905905	+	Silent	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chrX:149905905A>G	ENST00000370390.3	+	11	1591	c.1434A>G	c.(1432-1434)ggA>ggG	p.G478G	MTMR1_ENST00000541925.1_Silent_p.G384G|MTMR1_ENST00000445323.2_Silent_p.G486G|MTMR1_ENST00000544228.1_Silent_p.G478G|MTMR1_ENST00000538506.1_Silent_p.G303G|MTMR1_ENST00000451863.2_Silent_p.G478G	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	478	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TAAGCTTTGGACACAGGTTTG	0.443																																					p.G478G		.											.	MTMR1	131	0			c.A1434G						.						131.0	112.0	118.0					X																	149905905		2203	4300	6503	SO:0001819	synonymous_variant	8776	exon11			CTTTGGACACAGG	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1434A>G	X.37:g.149905905A>G		64.0	0.0		39.0	4.0	NM_003828	A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	CCDS14695.1																																																																																			.		0.443	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
MYO10	4651	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	16701447	16701447	+	Silent	SNP	T	T	C	rs372673284		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:16701447T>C	ENST00000513610.1	-	25	3511	c.3057A>G	c.(3055-3057)cgA>cgG	p.R1019R	MYO10_ENST00000274203.9_Silent_p.R376R|MYO10_ENST00000515803.1_Silent_p.R358R|MYO10_ENST00000427430.2_Silent_p.R376R|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Silent_p.R358R	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1019					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGCCACTTGTTCGCTGGTCTG	0.637																																					p.R1019R		.											.	MYO10	3	0			c.A3057G						.						46.0	52.0	50.0					5																	16701447		2173	4267	6440	SO:0001819	synonymous_variant	4651	exon25			ACTTGTTCGCTGG	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3057A>G	5.37:g.16701447T>C		57.0	0.0		61.0	28.0	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	ENST00000513610.1	37	CCDS54834.1																																																																																			.		0.637	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
NAA35	60560	ucsc.edu;bcgsc.ca	37	9	88622288	88622288	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr9:88622288G>A	ENST00000361671.5	+	14	1265	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	378					negative regulation of apoptotic process (GO:0043066)|smooth muscle cell proliferation (GO:0048659)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TTTCCTGGTGGATAACAAAAA	0.388																																					p.D378N		.											.	NAA35	92	0			c.G1132A						.						159.0	158.0	158.0					9																	88622288		2203	4300	6503	SO:0001583	missense	60560	exon14			CTGGTGGATAACA	AK025266	CCDS6673.1	9q22.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000135040	ENSG00000135040		"""N(alpha)-acetyltransferase subunits"""	24340	protein-coding gene	gene with protein product			"""MAK10 homolog, amino-acid N-acetyltransferase subunit (S. cerevisiae)"""	MAK10		14702039, 19660095	Standard	NM_024635		Approved	FLJ21613, FLJ22643, bA379P1.1	uc004aoi.4	Q5VZE5	OTTHUMG00000020131	ENST00000361671.5:c.1132G>A	9.37:g.88622288G>A	ENSP00000354972:p.Asp378Asn	60.0	0.0		41.0	4.0	NM_024635	Q5VZE6|Q9H631|Q9H703	Missense_Mutation	SNP	ENST00000361671.5	37	CCDS6673.1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.710912	0.48517	.	.	ENSG00000135040	ENST00000361671	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.49457	0.1558	N	0.19112	0.55	0.80722	D	1	B	0.15141	0.012	B	0.08055	0.003	T	0.37753	-0.9692	9	0.21014	T	0.42	-17.8654	19.6425	0.95763	0.0:0.0:1.0:0.0	.	378	Q5VZE5	NAA35_HUMAN	N	378	.	ENSP00000354972:D378N	D	+	1	0	NAA35	87812108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.700000	0.98707	2.713000	0.92767	0.655000	0.94253	GAT	.		0.388	NAA35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052906.1	NM_024635	
NFE2L1	4779	ucsc.edu;bcgsc.ca	37	17	46135846	46135846	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:46135846G>T	ENST00000362042.3	+	6	1778	c.1162G>T	c.(1162-1164)Gcc>Tcc	p.A388S	NFE2L1_ENST00000357480.5_Missense_Mutation_p.A358S|NFE2L1_ENST00000361665.3_Missense_Mutation_p.A377S|NFE2L1_ENST00000585291.1_Missense_Mutation_p.A358S|NFE2L1_ENST00000536222.1_Missense_Mutation_p.A232S|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000583378.1_Missense_Mutation_p.A189S|NFE2L1_ENST00000582155.1_Missense_Mutation_p.A200S	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	388					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGCCTGTGGCCAGTAGCTC	0.607																																					p.A388S		.											.	NFE2L1	91	0			c.G1162T						.						83.0	86.0	85.0					17																	46135846		2203	4300	6503	SO:0001583	missense	4779	exon6			CCTGTGGCCAGTA	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1162G>T	17.37:g.46135846G>T	ENSP00000354855:p.Ala388Ser	39.0	0.0		44.0	4.0	NM_003204	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	G	8.124	0.781538	0.16120	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	D;D	0.94613	-3.47;-3.47	5.5	5.5	0.81552	.	0.268611	0.35179	N	0.003389	D	0.89026	0.6598	L	0.29908	0.895	0.30120	N	0.805807	B;B;B;B	0.21147	0.052;0.013;0.013;0.012	B;B;B;B	0.18561	0.022;0.005;0.011;0.01	T	0.78518	-0.2173	10	0.09843	T	0.71	-18.1539	13.7681	0.63008	0.0:0.0:0.8457:0.1543	.	232;200;358;388	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	S	407;388;358;232	ENSP00000350072:A358S;ENSP00000445811:A232S	ENSP00000350072:A358S	A	+	1	0	NFE2L1	43490845	1.000000	0.71417	0.881000	0.34555	0.859000	0.49053	4.889000	0.63171	2.588000	0.87417	0.555000	0.69702	GCC	.		0.607	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204	
NLRX1	79671	broad.mit.edu;bcgsc.ca	37	11	119050855	119050855	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:119050855A>G	ENST00000409109.1	+	7	2712	c.2125A>G	c.(2125-2127)Aca>Gca	p.T709A	NLRX1_ENST00000409991.1_Missense_Mutation_p.T709A|NLRX1_ENST00000292199.2_Missense_Mutation_p.T709A|NLRX1_ENST00000409265.4_Missense_Mutation_p.T709A|NLRX1_ENST00000525863.1_Missense_Mutation_p.T709A	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	709	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGTGCGCATGACACCAGTCAA	0.602																																					p.T709A		.											.	NLRX1	92	0			c.A2125G						.						49.0	44.0	46.0					11																	119050855		2200	4295	6495	SO:0001583	missense	79671	exon7			CGCATGACACCAG	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2125A>G	11.37:g.119050855A>G	ENSP00000387334:p.Thr709Ala	59.0	0.0		73.0	6.0	NM_024618	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	A	16.13	3.034578	0.54896	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.55234	0.53;0.53;0.53;0.53;0.53	5.42	5.42	0.78866	.	0.124363	0.56097	D	0.000040	T	0.61324	0.2338	L	0.34521	1.04	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.57106	-0.7868	10	0.23891	T	0.37	.	15.4811	0.75528	1.0:0.0:0.0:0.0	.	709;709	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	A	709	ENSP00000386851:T709A;ENSP00000292199:T709A;ENSP00000386858:T709A;ENSP00000387334:T709A;ENSP00000433442:T709A	ENSP00000292199:T709A	T	+	1	0	NLRX1	118556065	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	6.916000	0.75776	2.064000	0.61679	0.459000	0.35465	ACA	.		0.602	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
NOL6	65083	ucsc.edu;bcgsc.ca	37	9	33468068	33468068	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr9:33468068T>C	ENST00000379471.2	-	11	1471	c.1384A>G	c.(1384-1386)Act>Gct	p.T462A	NOL6_ENST00000455041.2_Missense_Mutation_p.T410A|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	462					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTTTGGGAGTCATCAACAGC	0.572																																					p.T462A		.											.	NOL6	92	0			c.A1384G						.						125.0	123.0	124.0					9																	33468068		2203	4300	6503	SO:0001583	missense	65083	exon11			TGGGAGTCATCAA	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.1384A>G	9.37:g.33468068T>C	ENSP00000368784:p.Thr462Ala	55.0	0.0		45.0	6.0	NM_022917	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	T	21.8	4.198152	0.79015	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.46	5.46	0.80206	.	0.096580	0.64402	D	0.000001	T	0.50429	0.1615	L	0.52266	1.64	0.58432	D	0.999995	D;P;D;D;P	0.58970	0.961;0.822;0.982;0.984;0.925	P;B;P;P;B	0.57204	0.672;0.245;0.523;0.815;0.437	T	0.40175	-0.9577	10	0.20046	T	0.44	.	13.77	0.63019	0.0:0.0:0.0:1.0	.	410;459;462;462;462	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	A	462;462;462;18;462;410	ENSP00000313978:T462A;ENSP00000297990:T462A;ENSP00000368784:T462A;ENSP00000395915:T410A	ENSP00000297990:T462A	T	-	1	0	NOL6	33458068	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.129000	0.77225	2.081000	0.62600	0.459000	0.35465	ACT	.		0.572	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917	
NOVA1	4857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	26917704	26917704	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr14:26917704G>T	ENST00000539517.2	-	5	1302	c.985C>A	c.(985-987)Ctc>Atc	p.L329I	NOVA1_ENST00000465357.2_Missense_Mutation_p.L305I|NOVA1_ENST00000267422.7_Missense_Mutation_p.L207I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	332	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAAGTGTTGAGATTATATCCA	0.502																																					p.L329I		.											.	NOVA1	229	0			c.C985A						.						52.0	48.0	50.0					14																	26917704		2203	4300	6503	SO:0001583	missense	4857	exon5			TGTTGAGATTATA	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.985C>A	14.37:g.26917704G>T	ENSP00000438875:p.Leu329Ile	26.0	0.0		20.0	11.0	NM_002515	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	4.892	0.165831	0.09339	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.34472	1.37;1.36;1.37	5.93	5.93	0.95920	.	0.168630	0.41712	D	0.000828	T	0.20251	0.0487	N	0.08118	0	0.53005	D	0.999967	B;B;P	0.35872	0.092;0.256;0.525	B;B;B	0.30572	0.018;0.055;0.117	T	0.09530	-1.0670	10	0.10902	T	0.67	-5.7973	20.3363	0.98740	0.0:0.0:1.0:0.0	.	332;305;329	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	I	305;329;207	ENSP00000447391:L305I;ENSP00000438875:L329I;ENSP00000267422:L207I	ENSP00000267422:L207I	L	-	1	0	NOVA1	25987544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.392000	0.79840	2.814000	0.96858	0.563000	0.77884	CTC	.		0.502	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491	
NOX4	50507	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	89069054	89069054	+	Silent	SNP	C	C	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:89069054C>G	ENST00000263317.4	-	17	1813	c.1575G>C	c.(1573-1575)cgG>cgC	p.R525R	NOX4_ENST00000527956.1_Silent_p.R501R|NOX4_ENST00000542487.1_Silent_p.R501R|NOX4_ENST00000535633.1_Silent_p.R501R|NOX4_ENST00000525196.1_Silent_p.R289R|NOX4_ENST00000528341.1_Silent_p.R500R|NOX4_ENST00000375979.3_Silent_p.R218R|NOX4_ENST00000413594.2_Silent_p.R546R|NOX4_ENST00000424319.1_Silent_p.R501R|NOX4_ENST00000534731.1_Silent_p.R485R|NOX4_ENST00000343727.5_Silent_p.R501R|NOX4_ENST00000527626.1_Silent_p.R338R|NOX4_ENST00000532825.1_Silent_p.R461R|NOX4_ENST00000531342.1_Silent_p.R178R			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	525	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AAAGTTTCCACCGAGGACGTC	0.289																																					p.R525R		.											.	NOX4	515	0			c.G1575C						.						70.0	72.0	72.0					11																	89069054		2201	4296	6497	SO:0001819	synonymous_variant	50507	exon17			TTTCCACCGAGGA	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1575G>C	11.37:g.89069054C>G		455.0	0.0		417.0	181.0	NM_016931	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	ENST00000263317.4	37	CCDS8285.1																																																																																			.		0.289	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
NR6A1	2649	ucsc.edu;bcgsc.ca	37	9	127300557	127300557	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr9:127300557T>C	ENST00000487099.2	-	6	795	c.638A>G	c.(637-639)cAg>cGg	p.Q213R	NR6A1_ENST00000373584.3_Missense_Mutation_p.Q209R|NR6A1_ENST00000344523.4_Missense_Mutation_p.Q212R|NR6A1_ENST00000416460.2_Missense_Mutation_p.Q208R	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	213	Sufficient for interaction with UIMC1. {ECO:0000250}.				cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TCCCATGTACTGTTCCCTGAA	0.478																																					p.Q213R	Esophageal Squamous(192;272 2884 6208 20560)	.											.	NR6A1	189	0			c.A638G						.						157.0	148.0	151.0					9																	127300557		2203	4300	6503	SO:0001583	missense	2649	exon6			ATGTACTGTTCCC	U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.638A>G	9.37:g.127300557T>C	ENSP00000420267:p.Gln213Arg	55.0	0.0		46.0	4.0	NM_033334	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	ENST00000487099.2	37	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.577608	0.65878	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.94537	-3.07;-3.21;-3.2;-3.08;-3.45	5.39	5.39	0.77823	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.93025	0.7780	L	0.50333	1.59	0.80722	D	1	P;P;P	0.51933	0.828;0.937;0.949	B;P;P	0.48488	0.276;0.579;0.57	D	0.91108	0.4920	10	0.13470	T	0.59	.	14.5788	0.68271	0.0:0.0:0.0:1.0	.	209;213;208	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	R	213;209;208;212;171	ENSP00000420267:Q213R;ENSP00000362686:Q209R;ENSP00000413701:Q208R;ENSP00000341135:Q212R;ENSP00000420587:Q171R	ENSP00000341135:Q212R	Q	-	2	0	NR6A1	126340378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.665000	0.83852	2.045000	0.60652	0.459000	0.35465	CAG	.		0.478	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054043.4		
NRXN2	9379	ucsc.edu;bcgsc.ca	37	11	64434897	64434897	+	Silent	SNP	T	T	C	rs60479763		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:64434897T>C	ENST00000377551.1	-	8	1834	c.1623A>G	c.(1621-1623)ggA>ggG	p.G541G	NRXN2_ENST00000265459.6_Silent_p.G541G|NRXN2_ENST00000409571.1_Silent_p.G534G|NRXN2_ENST00000377559.3_Silent_p.G510G			Q9P2S2	NRX2A_HUMAN	neurexin 2	541	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGCTGCCAGCTCCACCCCCAG	0.642																																					p.G541G		.											.	NRXN2	232	0			c.A1623G						.						49.0	52.0	51.0					11																	64434897		2201	4297	6498	SO:0001819	synonymous_variant	9379	exon9			GCCAGCTCCACCC		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1623A>G	11.37:g.64434897T>C		49.0	1.0		49.0	5.0	NM_015080	A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	CCDS8077.1																																																																																			.		0.642	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080	
NSD1	64324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176562164	176562164	+	Silent	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:176562164G>A	ENST00000439151.2	+	2	105	c.60G>A	c.(58-60)gtG>gtA	p.V20V	NSD1_ENST00000361032.4_Silent_p.V20V|NSD1_ENST00000347982.4_5'UTR|NSD1_ENST00000354179.4_5'UTR|NSD1_ENST00000511258.1_5'UTR	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	20					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCAATCCAGTGAATTTAGATG	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																											p.V20V		.		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	.	NSD1	188	0			c.G60A						.						122.0	120.0	121.0					5																	176562164		2203	4300	6503	SO:0001819	synonymous_variant	64324	exon2	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	TCCAGTGAATTTA	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.60G>A	5.37:g.176562164G>A		63.0	0.0		56.0	18.0	NM_022455	Q96PD8|Q96RN7	Silent	SNP	ENST00000439151.2	37	CCDS4412.1																																																																																			.		0.463	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349	
NWD1	284434	ucsc.edu;bcgsc.ca	37	19	16874716	16874716	+	Silent	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:16874716T>C	ENST00000552788.1	+	7	2211	c.2211T>C	c.(2209-2211)ctT>ctC	p.L737L	NWD1_ENST00000339803.6_Silent_p.L602L|NWD1_ENST00000523826.1_Silent_p.L531L|NWD1_ENST00000379808.3_Silent_p.L737L|NWD1_ENST00000524140.2_Silent_p.L737L|NWD1_ENST00000549814.1_Silent_p.L737L			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	737							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCACCTGCTTCACTCGGGCC	0.612																																					p.L737L		.											.	NWD1	7	0			c.T2211C						.						65.0	61.0	62.0					19																	16874716		2203	4300	6503	SO:0001819	synonymous_variant	284434	exon9			CCTGCTTCACTCG	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2211T>C	19.37:g.16874716T>C		37.0	0.0		35.0	4.0	NM_001007525	C9J021|Q68CT3	Silent	SNP	ENST00000552788.1	37																																																																																				.		0.612	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525	
ODF2	4957	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	131256871	131256871	+	Missense_Mutation	SNP	A	A	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr9:131256871A>C	ENST00000434106.3	+	17	2198	c.1835A>C	c.(1834-1836)gAg>gCg	p.E612A	ODF2_ENST00000604420.1_Missense_Mutation_p.E612A|ODF2_ENST00000372814.3_Missense_Mutation_p.E656A|ODF2_ENST00000351030.3_Missense_Mutation_p.E607A|ODF2_ENST00000372791.3_Missense_Mutation_p.E593A|ODF2_ENST00000393533.2_Missense_Mutation_p.E612A|ODF2_ENST00000393527.3_Missense_Mutation_p.E588A|ODF2_ENST00000444119.2_Missense_Mutation_p.E588A|ODF2_ENST00000448249.3_Missense_Mutation_p.E531A|ODF2_ENST00000546203.1_Missense_Mutation_p.E593A|ODF2_ENST00000372807.5_Missense_Mutation_p.E607A	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	612					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.E588G(1)|p.E656G(1)|p.E612G(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAGCTGGCTGAGTGCCAAGAC	0.577																																					p.E676A		.											.	ODF2	69	3	Substitution - Missense(3)	kidney(3)	c.A2027C						.						75.0	65.0	68.0					9																	131256871		2203	4300	6503	SO:0001583	missense	4957	exon17			TGGCTGAGTGCCA	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1835A>C	9.37:g.131256871A>C	ENSP00000403453:p.Glu612Ala	52.0	0.0		38.0	14.0	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107982	0.77096	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;D;D;D;D;T;T	0.86956	1.05;-2.19;-1.97;-1.97;-1.97;-2.19;1.09;1.1	5.4	5.4	0.78164	.	0.048281	0.85682	D	0.000000	D	0.91680	0.7370	M	0.73217	2.22	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.972;0.998;0.873;0.978;0.972;0.999;0.999	P;D;B;P;P;D;D	0.68192	0.673;0.921;0.356;0.814;0.673;0.956;0.921	D	0.91885	0.5519	10	0.56958	D	0.05	-27.7591	11.069	0.47993	0.8614:0.0:0.0:0.1386	.	593;607;531;612;593;612;588	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	A	612;656;607;612;588;531;593;593	ENSP00000377166:E612A;ENSP00000361901:E656A;ENSP00000342581:E607A;ENSP00000361882:E612A;ENSP00000307781:E588A;ENSP00000396687:E531A;ENSP00000437579:E593A;ENSP00000361877:E593A	ENSP00000307781:E588A	E	+	2	0	ODF2	130296692	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.478000	0.60230	2.047000	0.60756	0.459000	0.35465	GAG	.		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		
OR10Z1	128368	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158576688	158576688	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:158576688C>T	ENST00000361284.1	+	1	460	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					GACTGGATACCTCTTTGGACT	0.498																																					p.L154F		.											.	OR10Z1	70	0			c.C460T						.						105.0	100.0	102.0					1																	158576688		2203	4300	6503	SO:0001583	missense	128368	exon1			GGATACCTCTTTG	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.460C>T	1.37:g.158576688C>T	ENSP00000354707:p.Leu154Phe	135.0	0.0		171.0	44.0	NM_001004478	Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	0.519	-0.862988	0.02610	.	.	ENSG00000198967	ENST00000361284	T	0.46451	0.87	5.36	-1.87	0.07737	GPCR, rhodopsin-like superfamily (1);	0.887851	0.09141	N	0.843040	T	0.10337	0.0253	L	0.31752	0.955	0.09310	N	1	B	0.10296	0.003	B	0.20577	0.03	T	0.35699	-0.9778	10	0.33940	T	0.23	.	4.9305	0.13914	0.2362:0.287:0.0:0.4769	.	154	Q8NGY1	O10Z1_HUMAN	F	154	ENSP00000354707:L154F	ENSP00000354707:L154F	L	+	1	0	OR10Z1	156843312	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.264000	0.02847	-0.522000	0.06417	-0.982000	0.02568	CTC	.		0.498	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478	
PADI4	23569	ucsc.edu;bcgsc.ca	37	1	17674442	17674442	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:17674442A>G	ENST00000375448.4	+	10	1080	c.1054A>G	c.(1054-1056)Atg>Gtg	p.M352V	AC004824.2_ENST00000602074.1_Intron|PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	352					cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	ACAGGATGAAATGGAGATCGG	0.577																																					p.M352V		.											.	PADI4	70	0			c.A1054G						.						99.0	83.0	89.0					1																	17674442		2203	4300	6503	SO:0001583	missense	23569	exon10			GATGAAATGGAGA	AB017919	CCDS180.1	1p36.13	2014-06-06	2003-02-12		ENSG00000159339	ENSG00000159339	3.5.3.15	"""Peptidyl arginine deiminases"""	18368	protein-coding gene	gene with protein product		605347	"""peptidyl arginine deiminase, type V"""	PADI5		10488123	Standard	NM_012387		Approved	PAD, PDI5, PDI4	uc001baj.2	Q9UM07	OTTHUMG00000002371	ENST00000375448.4:c.1054A>G	1.37:g.17674442A>G	ENSP00000364597:p.Met352Val	29.0	0.0		31.0	4.0	NM_012387	A8K392|B2RBW0|Q5VTZ8|Q70SX4	Missense_Mutation	SNP	ENST00000375448.4	37	CCDS180.1	.	.	.	.	.	.	.	.	.	.	-	12.46	1.944607	0.34283	.	.	ENSG00000159339	ENST00000375448	T	0.21361	2.01	5.47	5.47	0.80525	Protein-arginine deiminase, C-terminal (1);	0.229981	0.38663	N	0.001607	T	0.21267	0.0512	L	0.51914	1.62	0.27110	N	0.962403	B;B	0.25351	0.124;0.111	B;B	0.30495	0.081;0.116	T	0.13415	-1.0510	10	0.33940	T	0.23	-25.4888	9.7721	0.40595	0.8268:0.1732:0.0:0.0	.	352;352	A8K392;Q9UM07	.;PADI4_HUMAN	V	352	ENSP00000364597:M352V	ENSP00000364597:M352V	M	+	1	0	PADI4	17547029	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.077000	0.30741	2.087000	0.62958	0.423000	0.28283	ATG	.		0.577	PADI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006799.1	NM_012387	
OR6K2	81448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158670099	158670099	+	Missense_Mutation	SNP	G	G	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:158670099G>C	ENST00000359610.2	-	1	387	c.344C>G	c.(343-345)aCa>aGa	p.T115R		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			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)					GGCCATAACTGTCAAGAGACA	0.478																																					p.T115R		.											.	OR6K2	69	0			c.C344G						.						112.0	102.0	105.0					1																	158670099		2203	4300	6503	SO:0001583	missense	81448	exon1			ATAACTGTCAAGA	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.344C>G	1.37:g.158670099G>C	ENSP00000352626:p.Thr115Arg	90.0	0.0		103.0	56.0	NM_001005279	B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484518	0.63962	.	.	ENSG00000196171	ENST00000359610	T	0.01359	4.98	4.7	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	N	0.001389	T	0.05914	0.0154	H	0.95224	3.64	0.31333	N	0.684559	D	0.60575	0.988	P	0.59825	0.864	T	0.00918	-1.1515	10	0.87932	D	0	-4.7894	12.2266	0.54463	0.0863:0.0:0.9137:0.0	.	115	Q8NGY2	OR6K2_HUMAN	R	115	ENSP00000352626:T115R	ENSP00000352626:T115R	T	-	2	0	OR6K2	156936723	0.009000	0.17119	1.000000	0.80357	0.973000	0.67179	1.689000	0.37700	2.413000	0.81919	0.650000	0.86243	ACA	.		0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279	
OR2T27	403239	broad.mit.edu;mdanderson.org	37	1	248814007	248814007	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:248814007T>A	ENST00000344889.3	-	1	178	c.179A>T	c.(178-180)tAc>tTc	p.Y60F		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGCAGGAAGTACATGGGGGT	0.527																																					p.Y60F		.											.	OR2T27	47	0			c.A179T						.						38.0	35.0	36.0					1																	248814007		2202	4279	6481	SO:0001583	missense	403239	exon1			AGGAAGTACATGG		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.179A>T	1.37:g.248814007T>A	ENSP00000342008:p.Tyr60Phe	181.0	0.0		212.0	25.0	NM_001001824		Missense_Mutation	SNP	ENST00000344889.3	37	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	11.76	1.735907	0.30774	.	.	ENSG00000187701	ENST00000344889	T	0.14391	2.51	3.3	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	0.215910	0.23411	N	0.048472	T	0.30262	0.0759	M	0.93808	3.46	0.22127	N	0.999342	P	0.51537	0.946	P	0.51324	0.666	T	0.27872	-1.0061	10	0.87932	D	0	.	3.6948	0.08360	0.1906:0.112:0.0:0.6974	.	60	Q8NH04	O2T27_HUMAN	F	60	ENSP00000342008:Y60F	ENSP00000342008:Y60F	Y	-	2	0	OR2T27	246880630	0.996000	0.38824	0.991000	0.47740	0.607000	0.37147	2.250000	0.43178	0.467000	0.27218	0.163000	0.16589	TAC	.		0.527	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824	
PARP6	56965	bcgsc.ca;mdanderson.org	37	15	72541589	72541589	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_1	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr15:72541589A>G	ENST00000569795.1	-	20	2245	c.1558T>C	c.(1558-1560)Tca>Cca	p.S520P	PARP6_ENST00000413097.2_Intron|PARP6_ENST00000287196.9_Missense_Mutation_p.S520P|PARP6_ENST00000260376.7_Intron			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	520	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.						NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TTCTTACCTGAGTATCCAAAG	0.448																																					p.S520P		.											.	PARP6	522	0			c.T1558C						.						91.0	92.0	92.0					15																	72541589		1949	4144	6093	SO:0001583	missense	56965	exon19			TACCTGAGTATCC	AL390093	CCDS10241.2	15q22	2010-02-16			ENSG00000137817	ENSG00000137817		"""Poly (ADP-ribose) polymerases"""	26921	protein-coding gene	gene with protein product						15273990	Standard	XM_005254557		Approved	pART17	uc002auc.3	Q2NL67	OTTHUMG00000133443	ENST00000569795.1:c.1558T>C	15.37:g.72541589A>G	ENSP00000456348:p.Ser520Pro	29.0	0.0		26.0	5.0	NM_020214	Q9H7C5|Q9H9X6|Q9HAF3|Q9NPS6|Q9UFG4	Missense_Mutation	SNP	ENST00000569795.1	37	CCDS10241.2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790076	0.90367	.	.	ENSG00000137817	ENST00000419739;ENST00000287196	T;T	0.15718	2.4;2.4	5.34	5.34	0.76211	Poly(ADP-ribose) polymerase, catalytic domain (2);	1.033460	0.07641	N	0.930298	T	0.49064	0.1535	M	0.83774	2.66	0.80722	D	1	D;D;D	0.71674	0.998;0.985;0.985	D;D;D	0.74674	0.978;0.984;0.976	T	0.15122	-1.0448	10	0.62326	D	0.03	.	14.6599	0.68861	1.0:0.0:0.0:0.0	.	521;520;453	Q0VDG0;Q2NL67;A0PJ50	.;PARP6_HUMAN;.	P	521;520	ENSP00000403265:S521P;ENSP00000287196:S520P	ENSP00000287196:S520P	S	-	1	0	PARP6	70328643	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.020000	0.93667	2.243000	0.73865	0.533000	0.62120	TCA	.		0.448	PARP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257315.2	NM_020214	
PATL1	219988	ucsc.edu;bcgsc.ca	37	11	59423998	59423998	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:59423998A>G	ENST00000300146.9	-	6	781	c.697T>C	c.(697-699)Tct>Cct	p.S233P		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	233	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						TGGTTTGGAGACATCCTCTCA	0.453																																					p.S233P		.											.	PATL1	1	0			c.T697C						.						83.0	80.0	81.0					11																	59423998		1928	4127	6055	SO:0001583	missense	219988	exon6			TTGGAGACATCCT	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.697T>C	11.37:g.59423998A>G	ENSP00000300146:p.Ser233Pro	54.0	0.0		45.0	4.0	NM_152716	B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	ENST00000300146.9	37	CCDS44613.1	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112196	0.37242	.	.	ENSG00000166889	ENST00000300146;ENST00000428532	T	0.48836	0.8	5.44	5.44	0.79542	.	0.062515	0.64402	D	0.000003	T	0.57533	0.2060	L	0.40543	1.245	0.45567	D	0.998513	D;D	0.59357	0.981;0.985	D;D	0.72075	0.959;0.976	T	0.52366	-0.8585	10	0.24483	T	0.36	-16.8999	13.738	0.62829	1.0:0.0:0.0:0.0	.	233;233	Q86TB9-4;Q86TB9	.;PATL1_HUMAN	P	233	ENSP00000300146:S233P	ENSP00000300146:S233P	S	-	1	0	PATL1	59180574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.780000	0.75063	2.053000	0.61076	0.533000	0.62120	TCT	.		0.453	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394559.1	NM_152716	
PCDH7	5099	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	30726038	30726038	+	Silent	SNP	T	T	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:30726038T>A	ENST00000361762.2	+	1	4002	c.2994T>A	c.(2992-2994)tcT>tcA	p.S998S	PCDH7_ENST00000543491.1_Silent_p.S998S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	998					homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATTACAAATCTAGTTCCCCAT	0.517																																					p.S998S		.											.	PCDH7	229	0			c.T2994A						.						95.0	95.0	95.0					4																	30726038		2203	4300	6503	SO:0001819	synonymous_variant	5099	exon1			CAAATCTAGTTCC	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2994T>A	4.37:g.30726038T>A		42.0	0.0		64.0	22.0	NM_032457	O60246|O60247|Q4W5C4	Silent	SNP	ENST00000361762.2	37	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	T	5.757	0.324047	0.10900	.	.	ENSG00000169851	ENST00000511884	.	.	.	5.08	-7.67	0.01272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8975	0.86104	0.0:0.7091:0.1904:0.1005	.	.	.	.	K	688	.	.	X	+	1	0	PCDH7	30335136	0.000000	0.05858	0.860000	0.33809	0.989000	0.77384	-1.924000	0.01565	-1.434000	0.01975	-0.379000	0.06801	TAG	.		0.517	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
PCDHA9	9752	ucsc.edu;bcgsc.ca	37	5	140389242	140389242	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:140389242T>C	ENST00000532602.1	+	4	3606	c.2573T>C	c.(2572-2574)gTc>gCc	p.V858A	PCDHA8_ENST00000531613.1_Missense_Mutation_p.V858A|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.V871A|PCDHA6_ENST00000527624.1_Missense_Mutation_p.V594A|PCDHA7_ENST00000525929.1_Missense_Mutation_p.V845A|PCDHA13_ENST00000289272.2_Missense_Mutation_p.V858A|PCDHA2_ENST00000526136.1_Missense_Mutation_p.V856A|PCDHA5_ENST00000529859.1_Missense_Mutation_p.V844A|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V858A|PCDHA12_ENST00000398631.2_Missense_Mutation_p.V849A|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V594A|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V844A|PCDHA10_ENST00000307360.5_Missense_Mutation_p.V856A|PCDHA10_ENST00000506939.2_Missense_Mutation_p.V593A|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.V915A|PCDHA3_ENST00000522353.2_Missense_Mutation_p.V858A|PCDHA4_ENST00000530339.1_Missense_Mutation_p.V855A|PCDHA6_ENST00000529310.1_Missense_Mutation_p.V858A|PCDHA4_ENST00000512229.2_Missense_Mutation_p.V855A|PCDHA1_ENST00000504120.2_Missense_Mutation_p.V858A|PCDHA11_ENST00000398640.2_Missense_Mutation_p.V857A	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	858	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCCTCCAGTCGGTGCGGGT	0.502																																					p.V915A	Melanoma(55;1800 1972 14909)	.											.	PCDHAC2	26	0			c.T2744C						.						88.0	94.0	92.0					5																	140389242		2203	4300	6503	SO:0001583	missense	56134	exon4			CTCCAGTCGGTGC	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2573T>C	5.37:g.140389242T>C	ENSP00000436042:p.Val858Ala	55.0	0.0		51.0	4.0	NM_018899	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	T	18.94	3.729183	0.69074	.	.	ENSG00000204970;ENSG00000204970;ENSG00000204969;ENSG00000255408;ENSG00000204967;ENSG00000204967;ENSG00000204965;ENSG00000204965;ENSG00000081842;ENSG00000081842;ENSG00000204963;ENSG00000204962;ENSG00000204961;ENSG00000250120;ENSG00000250120;ENSG00000249158;ENSG00000251664;ENSG00000239389;ENSG00000239389;ENSG00000248383;ENSG00000243232	ENST00000504120;ENST00000394633;ENST00000526136;ENST00000522353;ENST00000512229;ENST00000530339;ENST00000529619;ENST00000529859;ENST00000529310;ENST00000527624;ENST00000525929;ENST00000531613;ENST00000532602;ENST00000506939;ENST00000307360;ENST00000398640;ENST00000398631;ENST00000409494;ENST00000289272;ENST00000253807;ENST00000289269	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60299	0.52;0.35;0.54;0.54;0.29;0.53;0.2;0.54;0.55;0.32;0.49;0.6;0.59;0.32;0.47;0.53;0.58;0.34;0.65;0.42;0.7	5.77	5.77	0.91146	.	0.000000	0.36703	N	0.002455	T	0.73079	0.3541	M	0.61703	1.905	0.58432	D	0.999997	D;P;D;P;P;D;D;D;D;D;P;P;B;D;D;D;D;D;P;D;B	0.71674	0.991;0.946;0.97;0.864;0.745;0.989;0.998;0.993;0.969;0.974;0.864;0.949;0.02;0.97;0.982;0.969;0.969;0.969;0.779;0.97;0.063	P;P;P;P;B;P;D;P;P;P;B;P;B;P;P;P;P;P;B;P;B	0.66979	0.6;0.829;0.777;0.571;0.326;0.885;0.948;0.84;0.762;0.656;0.338;0.539;0.003;0.777;0.88;0.766;0.766;0.814;0.194;0.777;0.067	T	0.75808	-0.3187	10	0.87932	D	0	.	16.383	0.83481	0.0:0.0:0.0:1.0	.	915;871;858;858;849;857;856;593;858;858;845;858;594;844;844;855;855;858;856;858;594	Q9Y5I4;Q9H158;Q9Y5I0;C9JA99;Q9UN75;Q9Y5I1;Q9Y5I2;Q9Y5I2-2;Q9Y5H5;Q9Y5H6;Q9UN72;Q9UN73;Q9UN73-2;Q9Y5H7;Q9Y5H7-3;Q9UN74;D6RA20;Q9Y5H8;Q9Y5H9;Q9Y5I3;Q9Y5I3-2	PCDC2_HUMAN;PCDC1_HUMAN;PCDAD_HUMAN;.;PCDAC_HUMAN;PCDAB_HUMAN;PCDAA_HUMAN;.;PCDA9_HUMAN;PCDA8_HUMAN;PCDA7_HUMAN;PCDA6_HUMAN;.;PCDA5_HUMAN;.;PCDA4_HUMAN;.;PCDA3_HUMAN;PCDA2_HUMAN;PCDA1_HUMAN;.	A	858;594;856;858;855;855;844;844;858;594;845;858;858;593;856;857;849;858;858;871;915	ENSP00000420840:V858A;ENSP00000378129:V594A;ENSP00000431748:V856A;ENSP00000429808:V858A;ENSP00000423470:V855A;ENSP00000435300:V855A;ENSP00000433416:V844A;ENSP00000436557:V844A;ENSP00000433378:V858A;ENSP00000434113:V594A;ENSP00000436426:V845A;ENSP00000434655:V858A;ENSP00000436042:V858A;ENSP00000421030:V593A;ENSP00000304234:V856A;ENSP00000381636:V857A;ENSP00000381628:V849A;ENSP00000386821:V858A;ENSP00000289272:V858A;ENSP00000253807:V871A;ENSP00000289269:V915A	ENSP00000304234:V856A	V	+	2	0	PCDHA6;PCDHA7;PCDHA8;PCDHA9;PCDHA2;PCDHA3;PCDHA4;PCDHA5;PCDHA10;PCDHA11;PCDHA12;PCDHA1;PCDHA13;PCDHAC2;PCDHAC1	140369426	1.000000	0.71417	0.946000	0.38457	0.948000	0.59901	7.640000	0.83355	2.326000	0.78906	0.533000	0.62120	GTC	.		0.502	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
PDLIM7	9260	ucsc.edu;bcgsc.ca	37	5	176916491	176916491	+	Missense_Mutation	SNP	G	G	A	rs374703251		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:176916491G>A	ENST00000355841.2	-	9	838	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	PDLIM7_ENST00000359895.2_Missense_Mutation_p.R224C|PDLIM7_ENST00000393551.1_Missense_Mutation_p.P237L|PDLIM7_ENST00000356618.4_Missense_Mutation_p.P237L	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	258					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGGAGGTGCGGCTCTGCAGC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		15356	0.0		0.001	False		,,,				2504	0.0				p.R258C		.											.	PDLIM7	153	0			c.C772T						.	G	CYS/ARG,CYS/ARG	0,4390		0,0,2195	19.0	24.0	23.0		772,670	5.2	1.0	5		23	1,8597		0,1,4298	no	missense,missense	PDLIM7	NM_005451.3,NM_203352.1	180,180	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	258/458,224/424	176916491	1,12987	2195	4299	6494	SO:0001583	missense	9260	exon9			AGGTGCGGCTCTG	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.772C>T	5.37:g.176916491G>A	ENSP00000348099:p.Arg258Cys	39.0	0.0		43.0	4.0	NM_005451	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	ENST00000355841.2	37	CCDS4422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.6|25.6	4.651127|4.651127	0.88056|0.88056	0.0|0.0	1.16E-4|1.16E-4	ENSG00000196923|ENSG00000196923	ENST00000356618;ENST00000393551|ENST00000359895;ENST00000355841	T;T|T;T	0.15487|0.51817	2.42;2.42|0.78;0.69	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.000000	.|0.64402	.|D	.|0.000011	T|T	0.66752|0.66752	0.2821|0.2821	L|L	0.58101|0.58101	1.795|1.795	0.53688|0.53688	D|D	0.999973|0.999973	D|P;D	0.89917|0.89917	1.0|0.648;1.0	D|B;D	0.72338|0.91635	0.977|0.091;0.999	T|T	0.68025|0.68025	-0.5518|-0.5518	9|10	0.87932|0.56958	D|D	0|0.05	.|.	18.4135|18.4135	0.90561|0.90561	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	237|258;224	Q9NR12-4|Q9NR12;Q9NR12-2	.|PDLI7_HUMAN;.	L|C	237|224;258	ENSP00000349030:P237L;ENSP00000377182:P237L|ENSP00000352964:R224C;ENSP00000348099:R258C	ENSP00000349030:P237L|ENSP00000348099:R258C	P|R	-|-	2|1	0|0	PDLIM7|PDLIM7	176849097|176849097	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	9.662000|9.662000	0.98603|0.98603	2.431000|2.431000	0.82371|0.82371	0.555000|0.555000	0.69702|0.69702	CCG|CGC	.		0.677	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451	
PDP2	57546	ucsc.edu;bcgsc.ca	37	16	66918397	66918397	+	Silent	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr16:66918397A>G	ENST00000311765.2	+	2	544	c.210A>G	c.(208-210)gaA>gaG	p.E70E	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	70					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|magnesium-dependent protein serine/threonine phosphatase activity (GO:0004724)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAACAGAGGAAGATGATTTTC	0.488																																					p.E70E		.											.	PDP2	91	0			c.A210G						.						77.0	76.0	76.0					16																	66918397		2200	4300	6500	SO:0001819	synonymous_variant	57546	exon2			AGAGGAAGATGAT	AB037769	CCDS10822.1	16q22.1	2012-04-17			ENSG00000172840	ENSG00000172840		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	30263	protein-coding gene	gene with protein product	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit 2"""	615499				9651365	Standard	NM_020786		Approved	KIAA1348, PPM2C2	uc002eqk.2	Q9P2J9	OTTHUMG00000137512	ENST00000311765.2:c.210A>G	16.37:g.66918397A>G		45.0	0.0		48.0	4.0	NM_020786	A8K924	Silent	SNP	ENST00000311765.2	37	CCDS10822.1																																																																																			.		0.488	PDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268831.2	NM_020786	
PHRF1	57661	ucsc.edu;bcgsc.ca	37	11	609443	609443	+	Silent	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr11:609443A>G	ENST00000264555.5	+	14	4115	c.3987A>G	c.(3985-3987)gaA>gaG	p.E1329E	PHRF1_ENST00000416188.2_Silent_p.E1328E|PHRF1_ENST00000533464.1_Silent_p.E1325E|PHRF1_ENST00000413872.2_Silent_p.E1327E	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1329					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCACGATGAAGACCCTTCGC	0.662																																					p.E1328E		.											.	PHRF1	22	0			c.A3984G						.						23.0	29.0	27.0					11																	609443		2097	4194	6291	SO:0001819	synonymous_variant	57661	exon14			CGATGAAGACCCT	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.3987A>G	11.37:g.609443A>G		25.0	0.0		22.0	4.0	NM_020901	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37																																																																																				.		0.662	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901	
PLEKHA1	59338	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	124166157	124166157	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr10:124166157G>T	ENST00000368990.3	+	5	441	c.310G>T	c.(310-312)Gta>Tta	p.V104L	PLEKHA1_ENST00000368988.1_Missense_Mutation_p.V104L|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.V104L|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.V104L|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.V104L|PLEKHA1_ENST00000494222.1_Intron	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	104	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGTGGAATGGGTAAATGTGTT	0.313																																					p.V104L		.											.	PLEKHA1	226	0			c.G310T						.						133.0	134.0	133.0					10																	124166157		2203	4300	6503	SO:0001583	missense	59338	exon6			GAATGGGTAAATG	AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.310G>T	10.37:g.124166157G>T	ENSP00000357986:p.Val104Leu	149.0	0.0		139.0	62.0	NM_001195608	B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	ENST00000368990.3	37	CCDS7629.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082336	0.76528	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	6.17	5.25	0.73442	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.112241	0.64402	D	0.000010	D	0.84534	0.5493	M	0.65498	2.005	0.54753	D	0.999983	B;D	0.53619	0.012;0.961	B;D	0.63597	0.096;0.916	D	0.84930	0.0859	10	0.52906	T	0.07	-12.7731	10.9078	0.47090	0.1466:0.0:0.8534:0.0	.	104;104	B3KQ55;Q9HB21	.;PKHA1_HUMAN	L	104	ENSP00000357986:V104L;ENSP00000357985:V104L;ENSP00000357984:V104L;ENSP00000438608:V104L;ENSP00000376547:V104L;ENSP00000394416:V104L	ENSP00000357984:V104L	V	+	1	0	PLEKHA1	124156147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.489000	0.60309	1.561000	0.49584	0.655000	0.94253	GTA	.		0.313	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050783.1	NM_001001974	
PLEKHF1	79156	ucsc.edu;bcgsc.ca	37	19	30164931	30164931	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:30164931T>C	ENST00000436066.3	+	2	651	c.185T>C	c.(184-186)cTg>cCg	p.L62P	PLEKHF1_ENST00000592810.1_Missense_Mutation_p.L62P	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	62	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			AACGACATCCTGGTGTATGGC	0.617																																					p.L62P		.											.	PLEKHF1	226	0			c.T185C						.						111.0	108.0	109.0					19																	30164931		2203	4300	6503	SO:0001583	missense	79156	exon2			ACATCCTGGTGTA	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.185T>C	19.37:g.30164931T>C	ENSP00000389787:p.Leu62Pro	35.0	0.0		26.0	4.0	NM_024310	Q96K11|Q9BUB9	Missense_Mutation	SNP	ENST00000436066.3	37	CCDS12417.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365571	0.82463	.	.	ENSG00000166289	ENST00000436066	T	0.70869	-0.52	5.53	5.53	0.82687	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.067395	0.64402	D	0.000010	D	0.87521	0.6198	M	0.92604	3.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.90520	0.4488	10	0.87932	D	0	.	14.8415	0.70230	0.0:0.0:0.0:1.0	.	147;62	B4DWN9;Q96S99	.;PKHF1_HUMAN	P	62	ENSP00000389787:L62P	ENSP00000389787:L62P	L	+	2	0	PLEKHF1	34856771	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.931000	0.87625	2.107000	0.64212	0.459000	0.35465	CTG	.		0.617	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310	
PLEKHG1	57480	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	151161944	151161944	+	Missense_Mutation	SNP	T	T	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:151161944T>G	ENST00000358517.2	+	16	4281	c.4070T>G	c.(4069-4071)cTt>cGt	p.L1357R	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.L1357R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1357							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AATGACTATCTTTGGAGGGGG	0.408																																					p.L1357R		.											.	PLEKHG1	92	0			c.T4070G						.						86.0	87.0	86.0					6																	151161944		2203	4300	6503	SO:0001583	missense	57480	exon17			ACTATCTTTGGAG	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4070T>G	6.37:g.151161944T>G	ENSP00000351318:p.Leu1357Arg	94.0	0.0		65.0	26.0	NM_001029884	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366450	0.82463	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.71934	-0.61;-0.61	5.7	5.7	0.88788	.	0.175401	0.51477	D	0.000093	T	0.79516	0.4459	M	0.66939	2.045	0.48571	D	0.99967	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.915	T	0.82540	-0.0406	10	0.87932	D	0	.	15.9568	0.79893	0.0:0.0:0.0:1.0	.	1164;1357	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	R	1357	ENSP00000356297:L1357R;ENSP00000351318:L1357R	ENSP00000351318:L1357R	L	+	2	0	PLEKHG1	151203637	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.170000	0.77587	2.160000	0.67779	0.533000	0.62120	CTT	.		0.408	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		
PLXNB3	5365	ucsc.edu;bcgsc.ca	37	X	153039372	153039372	+	Missense_Mutation	SNP	T	T	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chrX:153039372T>A	ENST00000361971.5	+	20	3452	c.3338T>A	c.(3337-3339)gTa>gAa	p.V1113E	PLXNB3_ENST00000538776.1_Missense_Mutation_p.V766E|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V1136E|PLXNB3_ENST00000538282.1_Missense_Mutation_p.V723E	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1113	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCTGCTGTACCAGACAGA	0.652																																					p.V1136E		.											.	PLXNB3	130	0			c.T3407A						.						53.0	54.0	53.0					X																	153039372		2202	4299	6501	SO:0001583	missense	5365	exon21			CTGCTGTACCAGA	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3338T>A	X.37:g.153039372T>A	ENSP00000355378:p.Val1113Glu	28.0	0.0		15.0	4.0	NM_001163257	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871335	0.33069	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	5.15	5.15	0.70609	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.301800	0.30142	N	0.010311	T	0.73753	0.3627	M	0.81112	2.525	0.22961	N	0.9985	D;D;D	0.60160	0.96;0.987;0.96	P;D;P	0.64042	0.836;0.921;0.836	T	0.68450	-0.5405	10	0.72032	D	0.01	.	11.5496	0.50713	0.0:0.0:0.0:1.0	.	766;1136;1113	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	E	1136;1113;766;723	ENSP00000442736:V1136E;ENSP00000355378:V1113E;ENSP00000445569:V766E;ENSP00000441919:V723E	ENSP00000355378:V1113E	V	+	2	0	PLXNB3	152692566	0.997000	0.39634	0.897000	0.35233	0.027000	0.11550	2.845000	0.48254	1.710000	0.51325	0.356000	0.21956	GTA	.		0.652	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
PNPLA8	50640	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	108131857	108131857	+	Silent	SNP	A	A	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr7:108131857A>T	ENST00000422087.1	-	9	2086	c.1680T>A	c.(1678-1680)ccT>ccA	p.P560P	PNPLA8_ENST00000388728.5_Silent_p.P560P|PNPLA8_ENST00000426128.2_Silent_p.P560P|PNPLA8_ENST00000436062.1_Silent_p.P560P|PNPLA8_ENST00000257694.8_Silent_p.P560P|PNPLA8_ENST00000453144.1_Silent_p.P460P	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	560	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGCTTACCTTAGGACATGTGG	0.343																																					p.P560P		.											.	PNPLA8	135	0			c.T1680A						.						139.0	134.0	136.0					7																	108131857		2203	4300	6503	SO:0001819	synonymous_variant	50640	exon7			TACCTTAGGACAT	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1680T>A	7.37:g.108131857A>T		115.0	0.0		147.0	56.0	NM_001256008	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Silent	SNP	ENST00000422087.1	37	CCDS34733.1																																																																																			.		0.343	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
PPP2R5E	5529	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	14	63858560	63858560	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr14:63858560C>T	ENST00000337537.3	-	10	1531	c.929G>A	c.(928-930)tGg>tAg	p.W310*	PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.W310*|PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.W234*|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	310					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		TGTTTTAGGCCAAAATTTCAT	0.338																																					p.W310X		.											.	PPP2R5E	658	0			c.G929A						.						81.0	81.0	81.0					14																	63858560		2203	4300	6503	SO:0001587	stop_gained	5529	exon10			TTAGGCCAAAATT	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.929G>A	14.37:g.63858560C>T	ENSP00000337641:p.Trp310*	122.0	0.0		88.0	34.0	NM_006246	A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Nonsense_Mutation	SNP	ENST00000337537.3	37	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	43	9.954419	0.99304	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.5188	19.5064	0.95118	0.0:1.0:0.0:0.0	.	.	.	.	X	310;310;234	.	ENSP00000337641:W310X	W	-	2	0	PPP2R5E	62928313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.716000	0.84723	2.672000	0.90937	0.655000	0.94253	TGG	.		0.338	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246	
PRDM15	63977	ucsc.edu;bcgsc.ca	37	21	43291640	43291640	+	Silent	SNP	C	C	T	rs376979380		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr21:43291640C>T	ENST00000269844.3	-	4	614	c.504G>A	c.(502-504)gcG>gcA	p.A168A	PRDM15_ENST00000422911.1_Intron|AP001619.3_ENST00000458654.1_RNA|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	168					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGCCTGCACTCGCAGGGCTCA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		15731	0.0		0.0	False		,,,				2504	0.001				p.A168A		.											.	PRDM15	90	0			c.G504A						.	C	,	1,4405	2.1+/-5.4	0,1,2202	121.0	103.0	109.0		,504	-1.9	0.0	21		109	0,8600		0,0,4300	no	intron,coding-synonymous	PRDM15	NM_001040424.1,NM_022115.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	,168/1508	43291640	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63977	exon4			TGCACTCGCAGGG	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.504G>A	21.37:g.43291640C>T		31.0	0.0		42.0	4.0	NM_022115	E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Silent	SNP	ENST00000269844.3	37	CCDS13676.1																																																																																			.		0.592	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115	
PSAP	5660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	73610968	73610968	+	Missense_Mutation	SNP	A	A	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr10:73610968A>T	ENST00000394936.3	-	1	158	c.11T>A	c.(10-12)cTc>cAc	p.L4H	PSAP_ENST00000394934.1_Missense_Mutation_p.L4H			P07602	SAP_HUMAN	prosaposin	4					blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CAGGAGGAAGAGGGCGTACAT	0.652																																					p.L4H		.											.	PSAP	91	0			c.T11A						.						26.0	22.0	23.0					10																	73610968		1904	3576	5480	SO:0001583	missense	5660	exon1			AGGAAGAGGGCGT	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429	ENST00000394936.3:c.11T>A	10.37:g.73610968A>T	ENSP00000378394:p.Leu4His	54.0	0.0		56.0	32.0	NM_002778	P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	A	13.98	2.399257	0.42512	.	.	ENSG00000197746	ENST00000394936;ENST00000373120;ENST00000357471;ENST00000394934;ENST00000394929;ENST00000404083	T;T	0.76578	-1.02;-1.03	4.97	4.97	0.65823	.	0.992181	0.08197	N	0.982913	D	0.82637	0.5080	M	0.69358	2.11	0.09310	N	1	D	0.59767	0.986	P	0.51453	0.67	T	0.71517	-0.4569	10	0.87932	D	0	-15.3803	11.3155	0.49390	1.0:0.0:0.0:0.0	.	4	P07602	SAP_HUMAN	H	4;4;4;4;4;7	ENSP00000378394:L4H;ENSP00000378392:L4H	ENSP00000350063:L4H	L	-	2	0	PSAP	73280974	0.029000	0.19370	0.003000	0.11579	0.484000	0.33280	3.955000	0.56715	1.980000	0.57719	0.397000	0.26171	CTC	.		0.652	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1	NM_002778	
PTPRQ	374462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	80933705	80933705	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:80933705G>A	ENST00000266688.5	+	25	3124	c.3124G>A	c.(3124-3126)Gta>Ata	p.V1042I				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1088	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						CATCATTGAAGTATACACAGA	0.259																																					p.V874I		.											.	.	.	0			c.G2620A						.						106.0	86.0	92.0					12																	80933705		692	1585	2277	SO:0001583	missense	374462	exon17			ATTGAAGTATACA	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.3124G>A	12.37:g.80933705G>A	ENSP00000266688:p.Val1042Ile	80.0	0.0		62.0	26.0	NM_001145026		Missense_Mutation	SNP	ENST00000266688.5	37		.	.	.	.	.	.	.	.	.	.	G	15.90	2.970769	0.53614	.	.	ENSG00000139304	ENST00000266688	T	0.55234	0.53	5.22	5.22	0.72569	Fibronectin, type III (2);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37999	0.1024	.	.	.	0.41296	D	0.987019	P	0.36647	0.563	B	0.35931	0.214	T	0.19910	-1.0291	8	0.11794	T	0.64	.	14.4923	0.67660	0.0:0.0:0.8525:0.1475	.	1088	Q9UMZ3	PTPRQ_HUMAN	I	1042	ENSP00000266688:V1042I	ENSP00000266688:V1042I	V	+	1	0	PTPRQ	79457836	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	4.127000	0.57944	2.428000	0.82296	0.585000	0.79938	GTA	.		0.259	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
PVRIG	79037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	7	99818613	99818613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr7:99818613C>A	ENST00000317271.2	+	6	1083	c.720C>A	c.(718-720)tgC>tgA	p.C240*	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|AC005071.1_ENST00000410550.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	240						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACACCAGCTGCCGCCCAGCTA	0.677																																					p.C240X		.											.	PVRIG	24	0			c.C720A						.						65.0	70.0	68.0					7																	99818613		2203	4300	6503	SO:0001587	stop_gained	79037	exon6			CAGCTGCCGCCCA	BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.720C>A	7.37:g.99818613C>A	ENSP00000316675:p.Cys240*	100.0	0.0		102.0	30.0	NM_024070	D6W5U9|Q9BVK3	Nonsense_Mutation	SNP	ENST00000317271.2	37	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	c	26.9	4.780649	0.90195	.	.	ENSG00000213413	ENST00000317271	.	.	.	3.01	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.35377	D	0.789556	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	9.7879	0.40688	0.0:1.0:0.0:0.0	.	.	.	.	X	240	.	ENSP00000316675:C240X	C	+	3	2	PVRIG	99656549	0.001000	0.12720	0.004000	0.12327	0.149000	0.21700	0.819000	0.27308	2.010000	0.58986	0.505000	0.49811	TGC	.		0.677	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070	
RAB3IP	117177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	70149324	70149324	+	Missense_Mutation	SNP	T	T	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:70149324T>G	ENST00000247833.7	+	2	512	c.136T>G	c.(136-138)Tca>Gca	p.S46A	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.S46A|RAB3IP_ENST00000550536.1_Missense_Mutation_p.S62A|RAB3IP_ENST00000483530.2_Missense_Mutation_p.S46A|RAB3IP_ENST00000362025.5_Missense_Mutation_p.S62A					RAB3A interacting protein											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCACACCCTTCAGCTTTATC	0.468																																					p.S62A		.											.	RAB3IP	227	0			c.T184G						.						175.0	156.0	162.0					12																	70149324		2203	4300	6503	SO:0001583	missense	117177	exon2			CACCCTTCAGCTT		CCDS8993.1, CCDS8995.1, CCDS8996.1, CCDS41811.1, CCDS44942.1	12q15	2013-01-22	2013-01-22		ENSG00000127328	ENSG00000127328			16508	protein-coding gene	gene with protein product	"""rabin3"""	608686					Standard	NM_175623		Approved	RABIN3	uc001svm.3	Q96QF0	OTTHUMG00000169437	ENST00000247833.7:c.136T>G	12.37:g.70149324T>G	ENSP00000247833:p.Ser46Ala	84.0	0.0		106.0	37.0	NM_175623		Missense_Mutation	SNP	ENST00000247833.7	37	CCDS8995.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.326084	0.41197	.	.	ENSG00000127328	ENST00000247833;ENST00000378815;ENST00000483530;ENST00000549760;ENST00000550536;ENST00000362025	T;T	0.44482	0.92;0.92	5.2	4.03	0.46877	.	0.321368	0.34067	N	0.004296	T	0.27134	0.0665	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.10296	0.003;0.0;0.002;0.0	B;B;B;B	0.11329	0.005;0.001;0.006;0.001	T	0.05582	-1.0876	10	0.38643	T	0.18	-5.4128	8.1652	0.31222	0.0:0.0714:0.136:0.7926	.	62;62;46;46	Q96QF0-4;Q96QF0;Q96QF0-3;Q96QF0-7	.;RAB3I_HUMAN;.;.	A	46;46;46;46;62;62	ENSP00000247833:S46A;ENSP00000447300:S62A	ENSP00000247833:S46A	S	+	1	0	RAB3IP	68435591	1.000000	0.71417	0.953000	0.39169	0.933000	0.57130	1.874000	0.39568	1.033000	0.39918	0.533000	0.62120	TCA	.		0.468	RAB3IP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280671.2	NM_022456	
RALGPS1	9649	ucsc.edu;bcgsc.ca	37	9	129975267	129975267	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr9:129975267G>T	ENST00000259351.5	+	17	1758	c.1491G>T	c.(1489-1491)atG>atT	p.M497I	RALGPS1_ENST00000373434.1_Missense_Mutation_p.M447I|RP13-225O21.2_ENST00000453199.1_RNA|RALGPS1_ENST00000424082.2_Missense_Mutation_p.M455I	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	497	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Required for stimulation of nucleotide exchange by RALA.				intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						TGGGCTGGATGGTGCAGCTGC	0.592																																					p.M497I		.											.	RALGPS1	227	0			c.G1491T						.						70.0	67.0	68.0					9																	129975267		2203	4300	6503	SO:0001583	missense	9649	exon17			CTGGATGGTGCAG	AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1491G>T	9.37:g.129975267G>T	ENSP00000259351:p.Met497Ile	63.0	0.0		38.0	4.0	NM_014636	B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	ENST00000259351.5	37	CCDS35143.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.59|19.59	3.856667|3.856667	0.71834|0.71834	.|.	.|.	ENSG00000136828|ENSG00000136828	ENST00000259351;ENST00000424082;ENST00000373434|ENST00000438723	T;T;T|.	0.74947|.	-0.89;-0.89;-0.89|.	5.19|5.19	5.19|5.19	0.71726|0.71726	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.	0.078056|.	0.85682|.	D|.	0.000000|.	T|T	0.73377|0.73377	0.3579|0.3579	L|L	0.61218|0.61218	1.895|1.895	0.58432|0.58432	D|D	0.999997|0.999997	B;B;P|.	0.36587|.	0.355;0.439;0.559|.	B;B;P|.	0.44897|.	0.221;0.141;0.463|.	T|T	0.71715|0.71715	-0.4509|-0.4509	10|5	0.45353|.	T|.	0.12|.	.|.	18.7267|18.7267	0.91716|0.91716	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	455;447;497|.	E9PBQ5;Q5JS13-2;Q5JS13|.	.;.;RGPS1_HUMAN|.	I|L	497;455;447|93	ENSP00000259351:M497I;ENSP00000415630:M455I;ENSP00000362533:M447I|.	ENSP00000259351:M497I|.	M|W	+|+	3|2	0|0	RALGPS1|RALGPS1	129015088|129015088	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.971000|8.971000	0.93419|0.93419	2.411000|2.411000	0.81874|0.81874	0.655000|0.655000	0.94253|0.94253	ATG|TGG	.		0.592	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054133.1	NM_014636	
RAPGEF6	51735	ucsc.edu;bcgsc.ca	37	5	130788807	130788807	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:130788807A>G	ENST00000509018.1	-	21	3345	c.3140T>C	c.(3139-3141)aTc>aCc	p.I1047T	RAPGEF6_ENST00000296859.6_Missense_Mutation_p.I1047T|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.I1047T|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.I762T|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.I1047T|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.I1052T|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.I1097T	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1047	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTTGGCGGATTTCCTTGGA	0.338																																					p.I1052T	Melanoma(168;435 1955 13113 13877 23213)	.											.	RAPGEF6	661	0			c.T3155C						.						102.0	102.0	102.0					5																	130788807		2203	4300	6503	SO:0001583	missense	51735	exon22			TGGCGGATTTCCT	AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3140T>C	5.37:g.130788807A>G	ENSP00000421684:p.Ile1047Thr	77.0	0.0		44.0	4.0	NM_001164387	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.593604	0.86953	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27	4.94	4.94	0.65067	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.93241	3.395	0.80722	D	1	D;P;D;D;D;D;D	0.76494	0.993;0.743;0.992;0.987;0.999;0.996;0.985	D;P;D;P;D;D;D	0.72625	0.926;0.878;0.917;0.857;0.978;0.966;0.949	T	0.78740	-0.2086	10	0.87932	D	0	.	14.8925	0.70620	1.0:0.0:0.0:0.0	.	1047;1047;1047;762;1097;1052;1047	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	T	1047;1052;1047;1047;1052;762;1047;1097	ENSP00000421684:I1047T;ENSP00000309298:I1052T;ENSP00000426081:I1047T;ENSP00000296859:I1047T;ENSP00000426910:I762T;ENSP00000311419:I1047T;ENSP00000426948:I1097T	ENSP00000426948:I1097T	I	-	2	0	RAPGEF6;FNIP1	130816706	1.000000	0.71417	0.973000	0.42090	0.990000	0.78478	9.305000	0.96197	1.991000	0.58162	0.383000	0.25322	ATC	.		0.338	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
RGS12	6002	ucsc.edu;bcgsc.ca	37	4	3432244	3432244	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:3432244T>C	ENST00000344733.5	+	17	4580	c.3676T>C	c.(3676-3678)Tcc>Ccc	p.S1226P	RGS12_ENST00000336727.3_Missense_Mutation_p.S1226P|RGS12_ENST00000306648.7_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.S1226P|RGS12_ENST00000338806.4_Missense_Mutation_p.S578P|RGS12_ENST00000538395.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1226					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTCCTGGTTCCACAGAACT	0.587																																					p.S1226P		.											.	RGS12	226	0			c.T3676C						.						109.0	76.0	87.0					4																	3432244		2203	4300	6503	SO:0001583	missense	6002	exon17			CCTGGTTCCACAG	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3676T>C	4.37:g.3432244T>C	ENSP00000339381:p.Ser1226Pro	60.0	0.0		36.0	4.0	NM_002926	B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.556755	0.27827	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000338806	T;T;T;T	0.35605	1.61;1.6;1.6;1.3	3.94	-2.11	0.07187	.	0.614519	0.16008	N	0.233977	T	0.08403	0.0209	N	0.00801	-1.175	0.09310	N	1	B;B;B;B	0.09022	0.001;0.001;0.001;0.002	B;B;B;B	0.11329	0.002;0.004;0.003;0.006	T	0.28235	-1.0050	10	0.23302	T	0.38	-6.5796	2.61	0.04888	0.1637:0.1242:0.4921:0.22	.	568;578;1226;1226	O14924-2;O14924-3;O14924;O14924-4	.;.;RGS12_HUMAN;.	P	1226;1226;1226;578	ENSP00000339381:S1226P;ENSP00000338509:S1226P;ENSP00000372238:S1226P;ENSP00000342133:S578P	ENSP00000338509:S1226P	S	+	1	0	RGS12	3402042	0.000000	0.05858	0.000000	0.03702	0.390000	0.30446	-0.418000	0.07080	-0.125000	0.11703	-0.313000	0.08912	TCC	.		0.587	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926	
RGS14	10636	ucsc.edu;bcgsc.ca;mdanderson.org	37	5	176798894	176798894	+	Silent	SNP	C	C	A	rs368278852		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:176798894C>A	ENST00000408923.3	+	15	1707	c.1519C>A	c.(1519-1521)Cgg>Agg	p.R507R	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	507	GoLoco. {ECO:0000255|PROSITE- ProRule:PRU00097}.				cell division (GO:0051301)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mitotic nuclear division (GO:0007067)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of synaptic plasticity (GO:0031914)|nucleocytoplasmic transport (GO:0006913)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of GTPase activity (GO:0043547)|positive regulation of neurogenesis (GO:0050769)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to oxidative stress (GO:0006979)|spindle organization (GO:0007051)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual learning (GO:0008542)|zygote asymmetric cell division (GO:0010070)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|microtubule (GO:0005874)|nuclear body (GO:0016604)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|spindle (GO:0005819)|spindle pole (GO:0000922)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|microtubule binding (GO:0008017)|receptor signaling complex scaffold activity (GO:0030159)|receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGCTGAACCGGGTGCAGAG	0.637																																					p.R507R	NSCLC(47;353 1896 28036)	.											.	RGS14	226	0			c.C1519A						.	C		1,4015		0,1,2007	41.0	54.0	50.0		1519	2.9	1.0	5		50	0,8320		0,0,4160	no	coding-synonymous	RGS14	NM_006480.4		0,1,6167	AA,AC,CC		0.0,0.0249,0.0081		507/567	176798894	1,12335	2008	4160	6168	SO:0001819	synonymous_variant	10636	exon15			CTGAACCGGGTGC	AF037195	CCDS43405.1	5q35.3	2008-02-05	2007-08-14		ENSG00000169220	ENSG00000169220		"""Regulators of G-protein signaling"""	9996	protein-coding gene	gene with protein product		602513	"""regulator of G-protein signalling 14"""				Standard	NM_006480		Approved		uc003mgf.3	O43566	OTTHUMG00000163324	ENST00000408923.3:c.1519C>A	5.37:g.176798894C>A		35.0	0.0		19.0	7.0	NM_006480	O43565|Q506M1|Q6ZWA4|Q8TD62	Silent	SNP	ENST00000408923.3	37	CCDS43405.1																																																																																			.		0.637	RGS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372676.1	NM_006480	
RNF135	84282	ucsc.edu;bcgsc.ca	37	17	29326154	29326154	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:29326154G>T	ENST00000328381.5	+	5	2117	c.1244G>T	c.(1243-1245)tGg>tTg	p.W415L	RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.		W -> C (in dbSNP:rs61749868). {ECO:0000269|PubMed:19291764}.		innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CCTGCCTTCTGGCTGTATGGC	0.458																																					p.W415L		.											.	RNF135	227	1	Unknown(1)	central_nervous_system(1)	c.G1244T						.						104.0	106.0	106.0					17																	29326154		2203	4300	6503	SO:0001583	missense	84282	exon5			CCTTCTGGCTGTA	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.1244G>T	17.37:g.29326154G>T	ENSP00000328340:p.Trp415Leu	47.0	0.0		34.0	4.0	NM_032322	A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.543426	0.45280	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	T	0.68181	-0.31	5.21	3.2	0.36748	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.176168	0.28072	N	0.016704	T	0.77308	0.4111	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74836	-0.3529	10	0.11485	T	0.65	-10.0145	9.1093	0.36718	0.0821:0.1481:0.7699:0.0	.	415	Q8IUD6	RN135_HUMAN	L	415;234	ENSP00000328340:W415L	ENSP00000328340:W415L	W	+	2	0	RNF135	26350280	1.000000	0.71417	0.998000	0.56505	0.247000	0.25773	6.437000	0.73421	0.707000	0.31934	-0.136000	0.14681	TGG	.		0.458	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322	
RPF2	84154	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	111318428	111318428	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:111318428G>A	ENST00000441448.2	+	5	369	c.277G>A	c.(277-279)Ggc>Agc	p.G93S		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	93	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						ATTCATGTTTGGCTCCCATAA	0.299																																					p.G93S		.											.	RPF2	92	0			c.G277A						.						71.0	66.0	68.0					6																	111318428		2202	4298	6500	SO:0001583	missense	84154	exon5			ATGTTTGGCTCCC	AK024740	CCDS5088.1	6q21	2009-09-25	2009-09-25	2009-09-25	ENSG00000197498	ENSG00000197498			20870	protein-coding gene	gene with protein product	"""ribosomal processing factor 2 homolog (S. cerevisiae)"""		"""brix domain containing 1"""	BXDC1		12048200	Standard	NM_032194		Approved	FLJ21087, bA397G5.4	uc003pun.3	Q9H7B2	OTTHUMG00000015368	ENST00000441448.2:c.277G>A	6.37:g.111318428G>A	ENSP00000402338:p.Gly93Ser	122.0	0.0		95.0	36.0	NM_032194	Q5VXN1|Q8N4A1	Missense_Mutation	SNP	ENST00000441448.2	37	CCDS5088.1	.	.	.	.	.	.	.	.	.	.	g	23.9	4.467411	0.84533	.	.	ENSG00000197498	ENST00000441448;ENST00000368864;ENST00000425871	T;T;T	0.41400	1.0;1.0;1.0	5.12	5.12	0.69794	Brix domain (3);	0.000000	0.85682	D	0.000000	T	0.52805	0.1757	L	0.60957	1.885	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.65573	0.936;0.936	T	0.53308	-0.8457	10	0.54805	T	0.06	-32.9184	17.7258	0.88365	0.0:0.0:1.0:0.0	.	93;93	A8K800;Q9H7B2	.;RPF2_HUMAN	S	93;54;60	ENSP00000402338:G93S;ENSP00000357857:G54S;ENSP00000414026:G60S	ENSP00000357857:G54S	G	+	1	0	RPF2	111425121	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.901000	0.75693	2.542000	0.85734	0.655000	0.94253	GGC	.		0.299	RPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041813.2	NM_032194	
RPS6KA5	9252	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	91338575	91338575	+	Missense_Mutation	SNP	G	G	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr14:91338575G>C	ENST00000261991.3	-	17	2425	c.2252C>G	c.(2251-2253)aCc>aGc	p.T751S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T672S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	751					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTCGGTACTGGTGCTAGTCTT	0.483																																					p.T751S		.											.	RPS6KA5	979	0			c.C2252G						.						129.0	114.0	119.0					14																	91338575		2203	4300	6503	SO:0001583	missense	9252	exon17			GTACTGGTGCTAG	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2252C>G	14.37:g.91338575G>C	ENSP00000261991:p.Thr751Ser	215.0	0.0		224.0	108.0	NM_004755	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	37	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354677	0.24512	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.66815	-0.23;-0.23	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	L	0.33485	1.01	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.61959	-0.6955	10	0.05959	T	0.93	.	19.2225	0.93803	0.0:0.0:1.0:0.0	.	751	O75582	KS6A5_HUMAN	S	751;672	ENSP00000261991:T751S;ENSP00000442803:T672S	ENSP00000261991:T751S	T	-	2	0	RPS6KA5	90408328	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.611000	0.88343	0.655000	0.94253	ACC	.		0.483	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
RSPH10B	222967	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	5967916	5967916	+	Silent	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr7:5967916T>C	ENST00000405415.1	-	19	2729	c.2343A>G	c.(2341-2343)gaA>gaG	p.E781E	RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000441023.2_Silent_p.E781E|RSPH10B_ENST00000337579.3_Silent_p.E781E|RSPH10B_ENST00000404406.1_Silent_p.E781E|RSPH10B_ENST00000539903.1_3'UTR			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	781										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		CCTTGATAGCTTCTTCACGTT	0.463																																					p.E781E		.											.	RSPH10B	23	0			c.A2343G						.						187.0	173.0	177.0					7																	5967916		2202	4298	6500	SO:0001819	synonymous_variant	222967	exon20			GATAGCTTCTTCA		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.2343A>G	7.37:g.5967916T>C		667.0	0.0		465.0	135.0	NM_173565	A6NMW7|Q86ST9|Q8NE68	Silent	SNP	ENST00000405415.1	37	CCDS34598.1																																																																																			.		0.463	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325465.2	NM_173565	
RSPO2	340419	ucsc.edu;bcgsc.ca	37	8	109094801	109094801	+	Silent	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr8:109094801T>C	ENST00000276659.5	-	2	686	c.66A>G	c.(64-66)caA>caG	p.Q22Q	RSPO2_ENST00000378439.2_Silent_p.Q22Q|RSPO2_ENST00000517781.1_Silent_p.Q22Q|RSPO2_ENST00000517939.1_5'Flank	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	22					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ATCGGTTGCCTTGGCAGTGGC	0.607																																					p.Q22Q		.											.	RSPO2	231	0			c.A66G						.						109.0	95.0	100.0					8																	109094801		2203	4300	6503	SO:0001819	synonymous_variant	340419	exon2			GTTGCCTTGGCAG	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.66A>G	8.37:g.109094801T>C		53.0	0.0		39.0	4.0	NM_178565	B3KVP0|Q4G0U4|Q8N6X6	Silent	SNP	ENST00000276659.5	37	CCDS6307.1																																																																																			.		0.607	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565	
SALL3	27164	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	76754127	76754127	+	Silent	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr18:76754127C>T	ENST00000537592.2	+	2	2136	c.2136C>T	c.(2134-2136)tgC>tgT	p.C712C	SALL3_ENST00000536229.3_Silent_p.C579C|SALL3_ENST00000575389.2_Silent_p.C712C	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	712					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAAGATCTGCGGCCGCGCCT	0.662																																					p.C712C		.											.	SALL3	155	0			c.C2136T						.						36.0	33.0	34.0					18																	76754127		2203	4299	6502	SO:0001819	synonymous_variant	27164	exon2			GATCTGCGGCCGC	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2136C>T	18.37:g.76754127C>T		33.0	0.0		21.0	9.0	NM_171999	Q9UGH1	Silent	SNP	ENST00000537592.2	37	CCDS12013.1																																																																																			.		0.662	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999	
SCARF2	91179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	20784723	20784723	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr22:20784723C>T	ENST00000266214.5	-	6	1299	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	SCARF2_ENST00000405555.3_Missense_Mutation_p.G399R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	399	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CACTGGGGCCCGTGGACGCCA	0.716																																					p.G399R		.											.	SCARF2	341	0			c.G1195A						.						6.0	7.0	7.0					22																	20784723		2139	4207	6346	SO:0001583	missense	91179	exon6			GGGGCCCGTGGAC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1195G>A	22.37:g.20784723C>T	ENSP00000266214:p.Gly399Arg	19.0	0.0		22.0	14.0	NM_182895	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	37	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556727	0.86231	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.72394	-0.65;-0.65	4.45	4.45	0.53987	EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85718	0.1323	10	0.87932	D	0	-21.5452	14.9433	0.71012	0.0:1.0:0.0:0.0	.	399;399	E5RFB8;Q96GP6	.;SREC2_HUMAN	R	399	ENSP00000385589:G399R;ENSP00000266214:G399R	ENSP00000266214:G399R	G	-	1	0	SCARF2	19114723	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.737000	0.74816	2.188000	0.69820	0.561000	0.74099	GGG	.		0.716	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
SERPINB13	5275	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	61255920	61255920	+	Missense_Mutation	SNP	G	G	A	rs139825462		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr18:61255920G>A	ENST00000344731.5	+	2	121	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	SERPINB13_ENST00000269489.5_Missense_Mutation_p.V7I	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	7					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V7I(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTTGGCGCCGTCAGCACTCG	0.418																																					p.V7I		.											.	SERPINB13	227	3	Substitution - Missense(3)	prostate(2)|kidney(1)	c.G19A						.	G	ILE/VAL	3,4403	6.2+/-15.9	0,3,2200	94.0	90.0	91.0		19	2.1	0.0	18	dbSNP_134	91	0,8600		0,0,4300	no	missense	SERPINB13	NM_012397.3	29	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	7/392	61255920	3,13003	2203	4300	6503	SO:0001583	missense	5275	exon2			GGCGCCGTCAGCA	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.19G>A	18.37:g.61255920G>A	ENSP00000341584:p.Val7Ile	156.0	1.0		128.0	68.0	NM_012397	A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380737	0.24944	6.81E-4	0.0	ENSG00000197641	ENST00000431153;ENST00000269489;ENST00000539341;ENST00000344731	T;T;D	0.82081	-0.79;2.82;-1.57	4.89	2.12	0.27331	Serpin domain (1);	0.365172	0.23587	N	0.046598	T	0.69178	0.3082	N	0.20881	0.62	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.10450	0.005;0.003	T	0.59547	-0.7434	10	0.59425	D	0.04	.	6.7555	0.23512	0.0764:0.1282:0.6636:0.1318	.	7;7	B7ZKV6;Q9UIV8	.;SPB13_HUMAN	I	37;7;7;7	ENSP00000388300:V37I;ENSP00000269489:V7I;ENSP00000341584:V7I	ENSP00000269489:V7I	V	+	1	0	SERPINB13	59406900	0.005000	0.15991	0.000000	0.03702	0.000000	0.00434	0.742000	0.26216	0.261000	0.21753	-1.149000	0.01842	GTC	G|1.000;A|0.000		0.418	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397	
SETD1A	9739	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	16	30977205	30977205	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr16:30977205G>T	ENST00000262519.8	+	8	2689	c.2003G>T	c.(2002-2004)cGa>cTa	p.R668L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	668					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCATGGACCGACTTGGGGCT	0.617																																					p.R668L		.											.	SETD1A	93	0			c.G2003T						.						76.0	73.0	74.0					16																	30977205		2197	4300	6497	SO:0001583	missense	9739	exon8			TGGACCGACTTGG	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2003G>T	16.37:g.30977205G>T	ENSP00000262519:p.Arg668Leu	113.0	0.0		113.0	48.0	NM_014712	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694952	0.30052	.	.	ENSG00000099381	ENST00000262519	D	0.94000	-3.33	4.67	4.67	0.58626	.	0.084306	0.49916	D	0.000124	D	0.92093	0.7494	N	0.19112	0.55	0.46356	D	0.999007	D	0.63880	0.993	D	0.74023	0.982	D	0.87573	0.2479	10	0.02654	T	1	.	16.5112	0.84286	0.0:0.0:1.0:0.0	.	668	O15047	SET1A_HUMAN	L	668	ENSP00000262519:R668L	ENSP00000262519:R668L	R	+	2	0	SETD1A	30884706	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.187000	0.42602	2.434000	0.82447	0.655000	0.94253	CGA	.		0.617	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
SF3B1	23451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G	rs374250186		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T	SNORA4_ENST00000365564.1_RNA|SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K666R(7)|p.K666T(6)|p.K666M(6)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTACAATCTTAATACCAGT	0.413			Mis		myelodysplastic syndrome																																p.K666T		.		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	.	SF3B1	140	19	Substitution - Missense(19)	haematopoietic_and_lymphoid_tissue(18)|NS(1)	c.A1997C						.						116.0	116.0	116.0					2																	198267360		2203	4300	6503	SO:0001583	missense	23451	exon14			ACAATCTTAATAC	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1997A>C	2.37:g.198267360T>G	ENSP00000335321:p.Lys666Thr	120.0	0.0		128.0	58.0	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736206	0.89482	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89754	0.3942	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	666	O75533	SF3B1_HUMAN	T	666	ENSP00000335321:K666T	ENSP00000335321:K666T	K	-	2	0	SF3B1	197975605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	AAG	.		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
SH3BGRL	6451	ucsc.edu;bcgsc.ca	37	X	80457736	80457736	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chrX:80457736T>C	ENST00000373212.5	+	1	295	c.37T>C	c.(37-39)Tct>Cct	p.S13P	HMGN5_ENST00000358130.2_5'Flank|SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like	13					positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				TTCCTCTGGCTCTACAGCGGT	0.527																																					p.S13P		.											.	SH3BGRL	131	0			c.T37C						.						126.0	99.0	108.0					X																	80457736		2203	4300	6503	SO:0001583	missense	6451	exon1			TCTGGCTCTACAG	AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"""SH3 domain binding glutamic acid-rich protein like"""			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.37T>C	X.37:g.80457736T>C	ENSP00000362308:p.Ser13Pro	17.0	0.0		16.0	4.0	NM_003022	Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	Missense_Mutation	SNP	ENST00000373212.5	37	CCDS14449.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.016525	0.75161	.	.	ENSG00000131171	ENST00000373212	T	0.76968	-1.06	5.32	5.32	0.75619	Thioredoxin-like fold (2);	0.189726	0.47455	D	0.000240	T	0.78515	0.4295	M	0.88704	2.975	0.43622	D	0.996009	P	0.39535	0.677	B	0.34652	0.187	T	0.80989	-0.1136	10	0.51188	T	0.08	-6.367	10.3453	0.43903	0.0:0.0:0.0:1.0	.	13	O75368	SH3L1_HUMAN	P	13	ENSP00000362308:S13P	ENSP00000362308:S13P	S	+	1	0	SH3BGRL	80344392	1.000000	0.71417	0.991000	0.47740	0.974000	0.67602	3.476000	0.53143	1.968000	0.57251	0.417000	0.27973	TCT	.		0.527	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057350.1	NM_003022	
SHCBP1L	81626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	182873386	182873386	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:182873386C>T	ENST00000367547.3	-	8	1752	c.1516G>A	c.(1516-1518)Gaa>Aaa	p.E506K	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.E387K|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	578										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CCTGTTCCTTCACATTTTAAT	0.413																																					p.E506K		.											.	SHCBP1L	91	0			c.G1516A						.						157.0	153.0	154.0					1																	182873386		2203	4300	6503	SO:0001583	missense	81626	exon8			TTCCTTCACATTT	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1516G>A	1.37:g.182873386C>T	ENSP00000356518:p.Glu506Lys	75.0	0.0		111.0	24.0	NM_030933	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	ENST00000367547.3	37	CCDS30955.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.664124	0.88251	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.41065	1.01;1.01	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.64402	D	0.000014	T	0.57770	0.2076	L	0.47190	1.495	0.39150	D	0.962202	D;D;D	0.71674	0.998;0.991;0.998	D;P;D	0.79108	0.992;0.86;0.986	T	0.55786	-0.8086	10	0.38643	T	0.18	-27.4096	16.4312	0.83844	0.0:1.0:0.0:0.0	.	578;387;506	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	K	506;575;387	ENSP00000356518:E506K;ENSP00000397308:E387K	ENSP00000287709:E575K	E	-	1	0	SHCBP1L	181140009	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.085000	0.64468	2.618000	0.88619	0.655000	0.94253	GAA	.		0.413	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085956.1	NM_030933	
SHPRH	257218	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	146264776	146264776	+	Missense_Mutation	SNP	C	C	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:146264776C>A	ENST00000367505.2	-	9	2005	c.1741G>T	c.(1741-1743)Gtt>Ttt	p.V581F	SHPRH_ENST00000438092.2_Missense_Mutation_p.V581F|SHPRH_ENST00000367503.3_Missense_Mutation_p.V581F|SHPRH_ENST00000275233.7_Missense_Mutation_p.V581F			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	581					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		GTGGATGGAACAAGCTTTTTC	0.378																																					p.V581F		.											.	SHPRH	92	0			c.G1741T						.						252.0	229.0	236.0					6																	146264776		1898	4107	6005	SO:0001583	missense	257218	exon9			ATGGAACAAGCTT	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1741G>T	6.37:g.146264776C>A	ENSP00000356475:p.Val581Phe	231.0	1.0		178.0	70.0	NM_173082	Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229541	0.39399	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8	5.25	0.418	0.16429	DEAD-like helicase (1);	0.841061	0.10367	N	0.683230	T	0.45397	0.1340	L	0.36672	1.1	0.09310	N	1	B;P;P;P	0.47677	0.372;0.675;0.624;0.899	B;B;B;B	0.43889	0.172;0.153;0.149;0.435	T	0.30534	-0.9975	10	0.48119	T	0.1	-1.9548	4.9808	0.14164	0.1316:0.5037:0.0:0.3647	.	470;581;581;470	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	F	581;581;581;581;470	ENSP00000356475:V581F;ENSP00000356473:V581F;ENSP00000412797:V581F;ENSP00000275233:V581F	ENSP00000275233:V581F	V	-	1	0	SHPRH	146306469	0.000000	0.05858	0.055000	0.19348	0.070000	0.16714	-1.191000	0.03055	0.067000	0.16545	-0.792000	0.03331	GTT	.		0.378	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082	
SIGLEC1	6614	ucsc.edu;bcgsc.ca	37	20	3682281	3682281	+	Silent	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr20:3682281A>G	ENST00000344754.4	-	6	1235	c.1236T>C	c.(1234-1236)ccT>ccC	p.P412P	SIGLEC1_ENST00000202578.4_Silent_p.P412P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	412	Ig-like C2-type 4.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGGAGTGAGAGGCGGGTCTG	0.612																																					p.P412P		.											.	SIGLEC1	167	0			c.T1236C						.						34.0	33.0	34.0					20																	3682281		2203	4300	6503	SO:0001819	synonymous_variant	6614	exon6			AGTGAGAGGCGGG	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.1236T>C	20.37:g.3682281A>G		36.0	0.0		36.0	4.0	NM_023068	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	CCDS13060.1																																																																																			.		0.612	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068	
SLC12A7	10723	ucsc.edu;bcgsc.ca;mdanderson.org	37	5	1094302	1094302	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:1094302G>T	ENST00000264930.5	-	2	229	c.186C>A	c.(184-186)agC>agA	p.S62R		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	62					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTTCAAAGAAGCTCTCTTGTT	0.438																																					p.S62R		.											.	SLC12A7	138	0			c.C186A						.						135.0	125.0	129.0					5																	1094302		2203	4300	6503	SO:0001583	missense	10723	exon2			AAAGAAGCTCTCT	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.186C>A	5.37:g.1094302G>T	ENSP00000264930:p.Ser62Arg	123.0	2.0		60.0	20.0	NM_006598	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	G	4.441	0.081584	0.08533	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.84730	-1.89	3.59	-2.91	0.05631	.	0.406816	0.26213	N	0.025677	T	0.71929	0.3398	L	0.40543	1.245	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.54906	-0.8223	10	0.25106	T	0.35	.	6.1967	0.20553	0.3983:0.0:0.4777:0.124	.	62	Q9Y666	S12A7_HUMAN	R	62	ENSP00000264930:S62R	ENSP00000264930:S62R	S	-	3	2	SLC12A7	1147302	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.949000	0.01532	-0.909000	0.03852	-1.564000	0.00881	AGC	.		0.438	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598	
SKIV2L2	23517	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	54637586	54637586	+	Silent	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr5:54637586T>C	ENST00000230640.5	+	7	1022	c.768T>C	c.(766-768)taT>taC	p.Y256Y	SKIV2L2_ENST00000545714.1_Silent_p.Y155Y	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	256	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AAATTCATTATATGAGAGATT	0.299																																					p.Y256Y	Melanoma(2;92 134 23744 29976 33782)	.											.	SKIV2L2	92	0			c.T768C						.						88.0	92.0	91.0					5																	54637586		2202	4297	6499	SO:0001819	synonymous_variant	23517	exon7			TCATTATATGAGA	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.768T>C	5.37:g.54637586T>C		99.0	0.0		102.0	42.0	NM_015360	Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Silent	SNP	ENST00000230640.5	37	CCDS3967.1																																																																																			.		0.299	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1		
SLC25A52	147407	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	18	29339767	29339767	+	Silent	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr18:29339767G>A	ENST00000579441.2	-	1	857	c.858C>T	c.(856-858)atC>atT	p.I286I	SLC25A52_ENST00000269205.5_Silent_p.I296I			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	286					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AAGTTGCATTGATTATGCCCC	0.363																																					p.I296I		.											.	.	.	0			c.C888T						.						44.0	47.0	46.0					18																	29339767		2198	4296	6494	SO:0001819	synonymous_variant	147407	exon1			TGCATTGATTATG		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.858C>T	18.37:g.29339767G>A		132.0	0.0		131.0	46.0	NM_001034172		Silent	SNP	ENST00000579441.2	37																																																																																				.		0.363	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000	
SLC35B2	347734	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	44223037	44223037	+	Silent	SNP	G	G	A	rs538318523	byFrequency	TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr6:44223037G>A	ENST00000393812.3	-	4	848	c.705C>T	c.(703-705)taC>taT	p.Y235Y	SLC35B2_ENST00000393810.1_3'UTR|MIR4647_ENST00000583964.1_RNA|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Silent_p.Y142Y|SLC35B2_ENST00000537814.1_Silent_p.Y102Y	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	235					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCAGTGTTCGTAGCTGCGCC	0.587													g|||	2	0.000399361	0.0015	0.0	5008	,	,		19503	0.0		0.0	False		,,,				2504	0.0				p.Y235Y		.											.	SLC35B2	91	0			c.C705T						.						82.0	80.0	81.0					6																	44223037		2203	4300	6503	SO:0001819	synonymous_variant	347734	exon4			GTGTTCGTAGCTG	AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.705C>T	6.37:g.44223037G>A		77.0	0.0		63.0	28.0	NM_178148	B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	CCDS34462.1																																																																																			.		0.587	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2		
SMARCA4	6597	ucsc.edu;bcgsc.ca	37	19	11118594	11118594	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:11118594A>G	ENST00000429416.3	+	15	2299	c.2018A>G	c.(2017-2019)cAg>cGg	p.Q673R	SMARCA4_ENST00000444061.3_Missense_Mutation_p.Q673R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.Q673R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.Q673R|SMARCA4_ENST00000358026.2_Missense_Mutation_p.Q673R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.Q673R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.Q673R|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000541122.2_Missense_Mutation_p.Q673R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.Q673R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	673					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAGGAAGAGCAGCCGCAGGCA	0.607			"""F, N, Mis"""		NSCLC																																p.Q673R		.		Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	.	SMARCA4	1523	1	Unknown(1)	lung(1)	c.A2018G						.						82.0	67.0	72.0					19																	11118594		2203	4300	6503	SO:0001583	missense	6597	exon14			AAGAGCAGCCGCA	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2018A>G	19.37:g.11118594A>G	ENSP00000395654:p.Gln673Arg	22.0	0.0		28.0	4.0	NM_003072	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020665	0.35606	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.62	5.62	0.85841	.	0.066526	0.64402	D	0.000010	T	0.28134	0.0694	N	0.14661	0.345	0.41906	D	0.990444	B;B;B;B;B;B;B	0.26195	0.001;0.022;0.022;0.144;0.088;0.028;0.028	B;B;B;B;B;B;B	0.23716	0.003;0.045;0.045;0.048;0.045;0.01;0.01	T	0.08680	-1.0710	10	0.32370	T	0.25	-26.1174	14.7885	0.69821	1.0:0.0:0.0:0.0	.	673;673;673;673;673;673;673	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	R	673;673;737;673;673;673;673;673	ENSP00000395654:Q673R;ENSP00000350720:Q673R;ENSP00000343896:Q673R;ENSP00000445036:Q673R;ENSP00000392837:Q673R;ENSP00000397783:Q673R;ENSP00000414727:Q673R	ENSP00000343896:Q673R	Q	+	2	0	SMARCA4	10979594	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.746000	0.62133	2.142000	0.66516	0.459000	0.35465	CAG	.		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
SMIM14	201895	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	39553765	39553765	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:39553765G>A	ENST00000295958.5	-	5	667	c.281C>T	c.(280-282)cCa>cTa	p.P94L	SMIM14_ENST00000510628.1_5'UTR|UGDH-AS1_ENST00000504032.1_RNA|SMIM14_ENST00000511809.1_Silent_p.T46T	NM_174921.1	NP_777581.1	Q96QK8	SIM14_HUMAN	small integral membrane protein 14	94						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGGAGGAGCTGGTGGATCTTG	0.318																																					p.P94L		.											.	.	.	0			c.C281T						.						95.0	84.0	88.0					4																	39553765		2203	4300	6503	SO:0001583	missense	201895	exon5			GGAGCTGGTGGAT	BC008502	CCDS3456.1	4p14	2014-02-10	2012-12-03	2012-12-03	ENSG00000163683	ENSG00000163683			27321	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 34"""	C4orf34		15231747, 24499674, 23759569	Standard	NM_174921		Approved	FLJ13289	uc003guo.3	Q96QK8	OTTHUMG00000128581	ENST00000295958.5:c.281C>T	4.37:g.39553765G>A	ENSP00000295958:p.Pro94Leu	251.0	1.0		205.0	88.0	NM_174921		Missense_Mutation	SNP	ENST00000295958.5	37	CCDS3456.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.133107	0.77662	.	.	ENSG00000163683	ENST00000295958	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	.	.	.	0.80722	D	1	P	0.47604	0.898	P	0.48089	0.566	T	0.68093	-0.5500	8	0.72032	D	0.01	-6.657	17.1564	0.86792	0.0:0.0:1.0:0.0	.	94	Q96QK8	CD034_HUMAN	L	94	.	ENSP00000295958:P94L	P	-	2	0	C4orf34	39230160	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.293000	0.72731	2.802000	0.96397	0.655000	0.94253	CCA	.		0.318	SMIM14-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250434.4	NM_174921	
SP2	6668	ucsc.edu;bcgsc.ca	37	17	46005144	46005144	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:46005144A>G	ENST00000376741.4	+	7	1933	c.1796A>G	c.(1795-1797)cAc>cGc	p.H599R	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA|RP11-6N17.3_ENST00000584276.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	599					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AGGAGTGACCACCTCACCAAG	0.592																																					p.H599R		.											.	SP2	90	0			c.A1796G						.						100.0	75.0	83.0					17																	46005144		2203	4299	6502	SO:0001583	missense	6668	exon7			GTGACCACCTCAC		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1796A>G	17.37:g.46005144A>G	ENSP00000365931:p.His599Arg	45.0	0.0		34.0	4.0	NM_003110	A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	A	20.7	4.039130	0.75617	.	.	ENSG00000167182	ENST00000376741	T	0.70164	-0.46	5.11	5.11	0.69529	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.75598	0.3871	L	0.41961	1.31	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.78147	-0.2317	10	0.87932	D	0	.	14.298	0.66327	1.0:0.0:0.0:0.0	.	599	Q02086	SP2_HUMAN	R	599	ENSP00000365931:H599R	ENSP00000365931:H599R	H	+	2	0	SP2	43360143	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.960000	0.93117	2.271000	0.75665	0.459000	0.35465	CAC	.		0.592	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1	NM_003110	
SPAG9	9043	ucsc.edu;bcgsc.ca	37	17	49072464	49072464	+	Missense_Mutation	SNP	C	C	A	rs201501137	byFrequency	TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:49072464C>A	ENST00000262013.7	-	18	2388	c.2180G>T	c.(2179-2181)cGa>cTa	p.R727L	SPAG9_ENST00000510283.1_Missense_Mutation_p.R570L|SPAG9_ENST00000505279.1_Missense_Mutation_p.R717L|SPAG9_ENST00000357122.4_Missense_Mutation_p.R713L	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	727					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.R713P(1)|p.R713Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AGAGGCACTTCGCTGTTTACT	0.398																																					p.R727L		.											.	SPAG9	659	2	Substitution - Missense(2)	prostate(1)|lung(1)	c.G2180T						.						166.0	143.0	151.0					17																	49072464		2203	4300	6503	SO:0001583	missense	9043	exon18			GCACTTCGCTGTT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2180G>T	17.37:g.49072464C>A	ENSP00000262013:p.Arg727Leu	52.0	0.0		39.0	4.0	NM_001130528	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	CCDS45740.1	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354810	0.41700	.	.	ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.59	5.59	0.84812	.	0.126119	0.53938	D	0.000055	T	0.19485	0.0468	L	0.37630	1.12	0.49687	D	0.999815	B;B;B;B;B;B	0.33512	0.415;0.169;0.008;0.023;0.415;0.029	B;B;B;B;B;B	0.35240	0.198;0.168;0.029;0.032;0.13;0.047	T	0.03121	-1.1070	10	0.28530	T	0.3	-10.1842	14.772	0.69688	0.0:0.9289:0.0:0.0711	.	713;727;717;727;713;570	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2	.;.;.;JIP4_HUMAN;.;.	L	727;484;474;264;570;717;713;325	ENSP00000262013:R727L;ENSP00000423165:R570L;ENSP00000426900:R717L;ENSP00000349636:R713L	ENSP00000262013:R727L	R	-	2	0	SPAG9	46427463	0.015000	0.18098	0.996000	0.52242	0.975000	0.68041	0.232000	0.17891	2.621000	0.88768	0.591000	0.81541	CGA	C|0.999;T|0.000		0.398	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
SPARCL1	8404	ucsc.edu;bcgsc.ca	37	4	88412785	88412785	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:88412785T>C	ENST00000282470.6	-	5	1746	c.1276A>G	c.(1276-1278)Agg>Ggg	p.R426G	SPARCL1_ENST00000503414.1_Missense_Mutation_p.R301G|SPARCL1_ENST00000418378.1_Missense_Mutation_p.R426G	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	426					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GCATGCACCCTCATGTTGCCT	0.433																																					p.R426G		.											.	SPARCL1	91	0			c.A1276G						.						300.0	236.0	258.0					4																	88412785		2203	4300	6503	SO:0001583	missense	8404	exon5			GCACCCTCATGTT	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1276A>G	4.37:g.88412785T>C	ENSP00000282470:p.Arg426Gly	79.0	0.0		46.0	4.0	NM_004684	B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	ENST00000282470.6	37	CCDS3622.1	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406686	0.25378	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414	T;T;T	0.24723	2.42;2.42;1.84	5.18	-2.06	0.07298	.	0.795910	0.12273	N	0.483609	T	0.19446	0.0467	M	0.63428	1.95	0.09310	N	1	P	0.35077	0.483	B	0.30943	0.122	T	0.12041	-1.0563	10	0.44086	T	0.13	-0.6542	4.716	0.12896	0.0:0.2481:0.2917:0.4602	.	426	Q14515	SPRL1_HUMAN	G	426;426;301;301	ENSP00000282470:R426G;ENSP00000414856:R426G;ENSP00000422903:R301G	ENSP00000282470:R426G	R	-	1	2	SPARCL1	88631809	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.015000	0.12634	-0.359000	0.08150	-0.250000	0.11733	AGG	.		0.433	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		
SPTA1	6708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	158605719	158605719	+	Missense_Mutation	SNP	C	C	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr1:158605719C>G	ENST00000368147.4	-	38	5596	c.5416G>C	c.(5416-5418)Gag>Cag	p.E1806Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1806					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGGCCAACTCTTTGAGCTTC	0.537																																					p.E1806Q		.											.	SPTA1	142	0			c.G5416C						.						90.0	93.0	92.0					1																	158605719		1942	4139	6081	SO:0001583	missense	6708	exon38			CCAACTCTTTGAG	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5416G>C	1.37:g.158605719C>G	ENSP00000357129:p.Glu1806Gln	48.0	0.0		72.0	55.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536202	0.27475	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.65	3.8	0.43715	.	0.266274	0.19779	N	0.106267	T	0.19765	0.0475	L	0.59967	1.855	0.32110	N	0.589433	B	0.30973	0.302	B	0.30401	0.115	T	0.09228	-1.0684	10	0.12766	T	0.61	.	7.8794	0.29614	0.0:0.7181:0.1338:0.1481	.	1806	P02549	SPTA1_HUMAN	Q	1806	ENSP00000357130:E1806Q;ENSP00000357129:E1806Q	ENSP00000357129:E1806Q	E	-	1	0	SPTA1	156872343	0.998000	0.40836	0.998000	0.56505	0.993000	0.82548	3.002000	0.49496	0.944000	0.37579	0.655000	0.94253	GAG	.		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
ST18	9705	ucsc.edu;bcgsc.ca	37	8	53085085	53085085	+	Silent	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr8:53085085G>T	ENST00000276480.7	-	10	1019	c.336C>A	c.(334-336)tcC>tcA	p.S112S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	112					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCTTCCTACTGGAGTTTTCTT	0.343																																					p.S112S		.											.	ST18	95	0			c.C336A						.						36.0	39.0	38.0					8																	53085085		2200	4298	6498	SO:0001819	synonymous_variant	9705	exon10			CCTACTGGAGTTT	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.336C>A	8.37:g.53085085G>T		28.0	0.0		30.0	4.0	NM_014682	Q17RY1	Silent	SNP	ENST00000276480.7	37	CCDS6149.1																																																																																			.		0.343	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
SYT16	83851	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	62550920	62550920	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr14:62550920G>T	ENST00000430451.2	+	5	1638	c.1441G>T	c.(1441-1443)Ggg>Tgg	p.G481W		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	481					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CCAGAGTGGAGGGTCTCCGCT	0.527																																					p.G481W		.											.	SYT16	23	0			c.G1441T						.						99.0	96.0	97.0					14																	62550920		1973	4154	6127	SO:0001583	missense	83851	exon5			AGTGGAGGGTCTC	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1441G>T	14.37:g.62550920G>T	ENSP00000394700:p.Gly481Trp	81.0	0.0		71.0	26.0	NM_031914	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Missense_Mutation	SNP	ENST00000430451.2	37	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137384	0.77775	.	.	ENSG00000139973	ENST00000430451	T	0.04406	3.63	5.44	5.44	0.79542	.	0.294878	0.36234	N	0.002719	T	0.10809	0.0264	L	0.29908	0.895	0.80722	D	1	P	0.49783	0.928	P	0.54060	0.741	T	0.01951	-1.1241	10	0.62326	D	0.03	-6.1342	19.4718	0.94966	0.0:0.0:1.0:0.0	.	481	Q17RD7	SYT16_HUMAN	W	481	ENSP00000394700:G481W	ENSP00000394700:G481W	G	+	1	0	SYT16	61620673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.333000	0.79214	2.831000	0.97527	0.643000	0.83706	GGG	.		0.527	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
STON2	85439	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	81737182	81737182	+	Silent	SNP	A	A	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr14:81737182A>C	ENST00000267540.2	-	5	2645	c.2445T>G	c.(2443-2445)ctT>ctG	p.L815L	STON2_ENST00000555447.1_Silent_p.L815L	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	815	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AGCCGAGTTCAAGGTGGCAAA	0.498																																					p.L815L		.											.	STON2	95	0			c.T2445G						.						87.0	75.0	79.0					14																	81737182		2203	4300	6503	SO:0001819	synonymous_variant	85439	exon7			GAGTTCAAGGTGG	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2445T>G	14.37:g.81737182A>C		46.0	0.0		34.0	11.0	NM_001256430	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	A	10.11	1.259519	0.23051	.	.	ENSG00000140022	ENST00000553821	T	0.26957	1.7	5.79	3.26	0.37387	.	0.000000	0.64402	D	0.000003	T	0.29423	0.0733	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.02617	-1.1133	6	.	.	.	-21.4275	7.9458	0.29985	0.4081:0.4586:0.0:0.1332	.	.	.	.	W	23	ENSP00000450577:L23W	.	L	-	2	0	STON2	80806935	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.141000	0.31528	0.984000	0.38629	0.533000	0.62120	TTG	.		0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
TBC1D17	79735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	50387721	50387721	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:50387721G>A	ENST00000221543.5	+	12	1548	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I	TBC1D17_ENST00000535102.2_Missense_Mutation_p.V384I	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	417	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCAGGCTACGTCCAGGGCAT	0.642																																					p.V417I		.											.	TBC1D17	90	0			c.G1249A						.						171.0	160.0	164.0					19																	50387721		2203	4300	6503	SO:0001583	missense	79735	exon12			GGCTACGTCCAGG	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1249G>A	19.37:g.50387721G>A	ENSP00000221543:p.Val417Ile	87.0	0.0		80.0	39.0	NM_024682	B4DT12|B9A6L8|F5H1W7	Missense_Mutation	SNP	ENST00000221543.5	37	CCDS12785.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068829	0.93950	.	.	ENSG00000104946	ENST00000221543;ENST00000535102	T;T	0.12984	2.63;2.63	5.22	5.22	0.72569	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000001	T	0.45256	0.1333	M	0.91768	3.24	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.67900	0.88;0.954	T	0.54931	-0.8219	10	0.52906	T	0.07	-43.7203	16.2481	0.82460	0.0:0.0:1.0:0.0	.	384;417	F5H1W7;Q9HA65	.;TBC17_HUMAN	I	417;384	ENSP00000221543:V417I;ENSP00000446323:V384I	ENSP00000221543:V417I	V	+	1	0	TBC1D17	55079533	1.000000	0.71417	0.990000	0.47175	0.956000	0.61745	9.097000	0.94193	2.424000	0.82194	0.561000	0.74099	GTC	.		0.642	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1	NM_024682	
TENM3	55714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	183267884	183267884	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:183267884C>T	ENST00000511685.1	+	3	436	c.313C>T	c.(313-315)Ctc>Ttc	p.L105F	TENM3_ENST00000406950.2_Missense_Mutation_p.L105F			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	105	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GGAAATGGGGCTCCCTCACAG	0.488																																					p.L105F		.											.	.	.	0			c.C313T						.						53.0	53.0	53.0					4																	183267884		1908	4123	6031	SO:0001583	missense	55714	exon2			ATGGGGCTCCCTC	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.313C>T	4.37:g.183267884C>T	ENSP00000424226:p.Leu105Phe	92.0	0.0		71.0	31.0	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632750	0.87660	.	.	ENSG00000218336	ENST00000512480;ENST00000511685;ENST00000406950	T;T;T	0.39787	1.06;1.06;1.06	5.15	5.15	0.70609	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.63248	0.2495	M	0.65975	2.015	0.47374	D	0.999401	D;D	0.63046	0.991;0.992	D;P	0.65987	0.94;0.898	T	0.64968	-0.6282	9	0.62326	D	0.03	.	18.8123	0.92063	0.0:1.0:0.0:0.0	.	105;105	D6RGC5;Q9P273	.;TEN3_HUMAN	F	105	ENSP00000421320:L105F;ENSP00000424226:L105F;ENSP00000385276:L105F	ENSP00000385276:L105F	L	+	1	0	ODZ3	183504878	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.589000	0.61006	2.681000	0.91329	0.563000	0.77884	CTC	.		0.488	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
TFCP2	7024	ucsc.edu;bcgsc.ca	37	12	51500323	51500323	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:51500323A>G	ENST00000257915.5	-	8	1360	c.902T>C	c.(901-903)tTt>tCt	p.F301S	TFCP2_ENST00000549867.1_Missense_Mutation_p.F301S|TFCP2_ENST00000548115.1_Missense_Mutation_p.F250S|TFCP2_ENST00000307660.4_Missense_Mutation_p.F250S	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	301	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						CCCAAGAGAAAAACTGCTATG	0.353																																					p.F301S		.											.	TFCP2	91	0			c.T902C						.						78.0	76.0	76.0					12																	51500323		2203	4300	6503	SO:0001583	missense	7024	exon8			AGAGAAAAACTGC	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.902T>C	12.37:g.51500323A>G	ENSP00000257915:p.Phe301Ser	50.0	0.0		32.0	4.0	NM_001173452	A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879488	0.72294	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	T;T;T;T;T	0.46063	2.26;0.9;2.19;0.88;2.26	5.53	5.53	0.82687	Sterile alpha motif/pointed domain (1);	0.000000	0.85682	D	0.000000	T	0.56601	0.1996	L	0.50333	1.59	0.80722	D	1	D;D;D;B	0.69078	0.997;0.992;0.986;0.354	D;D;P;B	0.78314	0.991;0.981;0.811;0.283	T	0.50065	-0.8871	10	0.21540	T	0.41	-17.252	14.9488	0.71054	1.0:0.0:0.0:0.0	.	250;301;301;301	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	S	301;250;301;250;203	ENSP00000257915:F301S;ENSP00000304411:F250S;ENSP00000449742:F301S;ENSP00000447991:F250S;ENSP00000449280:F203S	ENSP00000257915:F301S	F	-	2	0	TFCP2	49786590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.874000	0.92363	2.234000	0.73211	0.533000	0.62120	TTT	.		0.353	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
TMEM260	54916	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	57070549	57070549	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr14:57070549G>A	ENST00000261556.6	+	4	483	c.361G>A	c.(361-363)Gct>Act	p.A121T	TMEM260_ENST00000538838.1_Missense_Mutation_p.A121T|TMEM260_ENST00000536419.1_Intron	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	121						integral component of membrane (GO:0016021)											TGGCTCATCTGCTGGAGGAAT	0.413																																					p.A121T		.											.	.	.	0			c.G361A						.						104.0	107.0	106.0					14																	57070549		2203	4300	6503	SO:0001583	missense	0	exon4			TCATCTGCTGGAG	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.361G>A	14.37:g.57070549G>A	ENSP00000261556:p.Ala121Thr	223.0	0.0		174.0	67.0	NM_017799	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	37	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273708	0.80580	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.49432	1.37;0.78	5.88	5.88	0.94601	.	0.054747	0.64402	D	0.000001	T	0.46927	0.1418	L	0.45051	1.395	0.80722	D	1	P	0.43477	0.808	B	0.43082	0.407	T	0.19745	-1.0296	10	0.20046	T	0.44	-11.5948	20.2381	0.98363	0.0:0.0:1.0:0.0	.	121	Q9NX78	CN101_HUMAN	T	121	ENSP00000261556:A121T;ENSP00000441934:A121T	ENSP00000261556:A121T	A	+	1	0	C14orf101	56140302	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	6.781000	0.75068	2.779000	0.95612	0.650000	0.86243	GCT	.		0.413	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
TMTC1	83857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	29659790	29659790	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:29659790C>T	ENST00000539277.1	-	18	2696	c.2638G>A	c.(2638-2640)Gat>Aat	p.D880N	TMTC1_ENST00000551659.1_Missense_Mutation_p.D942N|TMTC1_ENST00000256062.5_Missense_Mutation_p.D772N|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.D904N	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	880						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TATGTTTGATCCTTTTCTCGA	0.473																																					p.D880N		.											.	TMTC1	90	0			c.G2638A						.						291.0	275.0	281.0					12																	29659790		2203	4300	6503	SO:0001583	missense	83857	exon18			TTTGATCCTTTTC		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2638G>A	12.37:g.29659790C>T	ENSP00000442046:p.Asp880Asn	149.0	0.0		119.0	47.0	NM_001193451	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115963	0.56505	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.69435	-0.39;-0.27;-0.4;-0.28	5.13	4.24	0.50183	.	0.315023	0.29876	N	0.010975	T	0.50905	0.1643	L	0.36672	1.1	0.80722	D	1	B;B;B	0.14438	0.001;0.001;0.01	B;B;B	0.14023	0.003;0.002;0.01	T	0.43212	-0.9405	10	0.02654	T	1	-11.0509	12.379	0.55295	0.0:0.9176:0.0:0.0824	.	880;942;225	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	N	643;772;942;904;880	ENSP00000256062:D772N;ENSP00000448112:D942N;ENSP00000449043:D904N;ENSP00000442046:D880N	ENSP00000256062:D772N	D	-	1	0	TMTC1	29551057	1.000000	0.71417	0.974000	0.42286	0.969000	0.65631	2.244000	0.43124	1.164000	0.42652	0.650000	0.86243	GAT	.		0.473	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920	
TMPO	7112	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	98938066	98938066	+	Missense_Mutation	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr12:98938066G>A	ENST00000556029.1	+	5	1078	c.722G>A	c.(721-723)gGa>gAa	p.G241E	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	241	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAAAAGGCGGACCTCTGCAG	0.408																																					p.G241E		.											.	TMPO	93	0			c.G722A						.						86.0	87.0	87.0					12																	98938066		2203	4300	6503	SO:0001583	missense	7112	exon5			AAGGCGGACCTCT		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.722G>A	12.37:g.98938066G>A	ENSP00000450627:p.Gly241Glu	117.0	0.0		112.0	57.0	NM_001032283	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187716	0.78789	.	.	ENSG00000120802	ENST00000556029	T	0.71579	-0.58	5.75	5.75	0.90469	.	.	.	.	.	T	0.81735	0.4885	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77167	-0.2687	9	0.28530	T	0.3	.	19.9478	0.97189	0.0:0.0:1.0:0.0	.	241	P42167	LAP2B_HUMAN	E	241	ENSP00000450627:G241E	ENSP00000340251:G241E	G	+	2	0	TMPO	97462197	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.473000	0.73572	2.712000	0.92718	0.591000	0.81541	GGA	.		0.408	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
TRAIP	10293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	49867199	49867199	+	Splice_Site	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr3:49867199C>T	ENST00000331456.2	-	13	1200	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	TRAIP_ENST00000469027.1_Splice_Site_p.E208K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	363	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCTGGGACTCCTGCAGGGAA	0.567																																					p.E363K		.											.	TRAIP	849	0			c.G1087A						.						31.0	31.0	31.0					3																	49867199		2203	4300	6503	SO:0001630	splice_region_variant	10293	exon13			GGGACTCCTGCAG	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1087-1G>A	3.37:g.49867199C>T		31.0	0.0		19.0	11.0	NM_005879	B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844797	0.32606	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.44881	0.91	5.08	4.21	0.49690	.	0.512387	0.20570	N	0.089742	T	0.31071	0.0785	L	0.51422	1.61	0.35350	D	0.787276	B;B	0.18610	0.001;0.029	B;B	0.14023	0.002;0.01	T	0.24835	-1.0149	10	0.06236	T	0.91	-14.4236	9.2917	0.37791	0.0:0.9033:0.0:0.0967	.	363;363	A8K807;Q9BWF2	.;TRAIP_HUMAN	K	363;208	ENSP00000420085:E208K	ENSP00000328203:E363K	E	-	1	0	TRAIP	49842203	0.998000	0.40836	0.993000	0.49108	0.134000	0.20937	1.262000	0.32992	1.376000	0.46267	0.561000	0.74099	GAG	.		0.567	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879	Missense_Mutation
TRAK2	66008	broad.mit.edu;bcgsc.ca|hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	202245315	202245316	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G|C	G|C	.	.	.	.	.|Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:202245315_202245316GC>AG	ENST00000332624.3	-	16	3123_3124	c.2695_2696GC>CT	c.(2695-2697)GCc>CTc	p.A899L		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	899					protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GCAAACTGGGGCAGCAAAGCTA	0.421																																					p.A899V|p.A899P		.											.	TRAK2	90	0			c.C2696T|c.G2695C						.																																			SO:0001583	missense	66008	exon16			ACTGGGGCAGCAA|CTGGGGCAGCAAA	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.2695_2696delinsAG	2.37:g.202245315_202245316delinsAG	ENSP00000328875:p.Ala899Leu	119.0|118.0	2.0|0.0		98.0|99.0	39.0|42.0	NM_015049	E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	CCDS2347.1																																																																																			.		0.421	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049	
TRIOBP	11078	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	38120914	38120914	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr22:38120914A>G	ENST00000406386.3	+	7	2606	c.2351A>G	c.(2350-2352)aAt>aGt	p.N784S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	784					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTCTCCCAATAGAGCCACA	0.562																																					p.N784S		.											.	TRIOBP	136	0			c.A2351G						.						136.0	147.0	143.0					22																	38120914		1980	4156	6136	SO:0001583	missense	11078	exon7			CTCCCAATAGAGC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2351A>G	22.37:g.38120914A>G	ENSP00000384312:p.Asn784Ser	148.0	0.0		138.0	69.0	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	7.619	0.676520	0.14841	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19394	2.15	3.65	-1.7	0.08159	.	.	.	.	.	T	0.11750	0.0286	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32587	-0.9901	9	0.33940	T	0.23	.	1.5067	0.02488	0.3434:0.3775:0.1108:0.1683	.	784	Q9H2D6	TARA_HUMAN	S	784	ENSP00000384312:N784S	ENSP00000384312:N784S	N	+	2	0	TRIOBP	36450860	0.075000	0.21258	0.003000	0.11579	0.028000	0.11728	-0.418000	0.07080	-0.145000	0.11294	-0.560000	0.04181	AAT	.		0.562	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TTN	7273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	179560596	179560596	+	Silent	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:179560596A>G	ENST00000591111.1	-	112	30476	c.30252T>C	c.(30250-30252)taT>taC	p.Y10084Y	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.Y9157Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.Y10401Y|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATACCTTCATAGACCTCCT	0.373																																					p.Y10401Y		.											.	TTN	636	0			c.T31203C						.						122.0	117.0	118.0					2																	179560596		1346	2805	4151	SO:0001819	synonymous_variant	7273	exon114			ACCTTCATAGACC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30252T>C	2.37:g.179560596A>G		236.0	0.0		190.0	85.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																				.		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TXNDC16	57544	ucsc.edu;bcgsc.ca	37	14	52981605	52981605	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr14:52981605T>C	ENST00000281741.4	-	8	969	c.598A>G	c.(598-600)Agt>Ggt	p.S200G	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	200					cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TACCCAATACTTTCCAAAAGG	0.358																																					p.S200G		.											.	TXNDC16	22	0			c.A598G						.						145.0	153.0	150.0					14																	52981605		2203	4300	6503	SO:0001583	missense	57544	exon8			CAATACTTTCCAA	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.598A>G	14.37:g.52981605T>C	ENSP00000281741:p.Ser200Gly	50.0	0.0		47.0	4.0	NM_020784	A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Missense_Mutation	SNP	ENST00000281741.4	37	CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	5.599	0.295226	0.10622	.	.	ENSG00000087301	ENST00000281741	T	0.18174	2.23	5.65	1.85	0.25348	.	0.510186	0.25411	N	0.030876	T	0.10852	0.0265	L	0.34521	1.04	0.21878	N	0.999499	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.35500	-0.9786	10	0.14656	T	0.56	-39.6023	8.8874	0.35411	0.0:0.2305:0.0:0.7695	.	195;200	B7ZME4;Q9P2K2	.;TXD16_HUMAN	G	200	ENSP00000281741:S200G	ENSP00000281741:S200G	S	-	1	0	TXNDC16	52051355	0.945000	0.32115	0.998000	0.56505	0.551000	0.35334	0.363000	0.20301	0.403000	0.25479	0.460000	0.39030	AGT	.		0.358	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	
UGT2B10	7365	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	69682095	69682095	+	Missense_Mutation	SNP	G	G	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr4:69682095G>C	ENST00000265403.7	+	1	385	c.358G>C	c.(358-360)Gac>Cac	p.D120H	UGT2B10_ENST00000458688.2_Missense_Mutation_p.D120H	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	120					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GGCAATTAATGACATAATTAG	0.294																																					.	Melanoma(133;755 1763 25578 26334 46021)	.											.	UGT2B10	65	0			.						.						65.0	69.0	67.0					4																	69682095		2162	4285	6447	SO:0001583	missense	7365	.			ATTAATGACATAA	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.358G>C	4.37:g.69682095G>C	ENSP00000265403:p.Asp120His	236.0	0.0		241.0	97.0	.	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37		.	.	.	.	.	.	.	.	.	.	g	11.10	1.538306	0.27475	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.61742	0.08;0.16	2.63	1.59	0.23543	.	1.278370	0.05684	U	0.590945	T	0.69360	0.3102	M	0.67625	2.065	0.09310	N	1	P;B	0.41748	0.761;0.114	P;B	0.59487	0.858;0.143	T	0.55952	-0.8059	10	0.62326	D	0.03	.	3.4726	0.07573	0.3917:0.0:0.6083:0.0	.	120;120	B4DPP1;P36537	.;UDB10_HUMAN	H	120	ENSP00000265403:D120H;ENSP00000413420:D120H	ENSP00000265403:D120H	D	+	1	0	UGT2B10	69716684	0.002000	0.14202	0.003000	0.11579	0.004000	0.04260	0.619000	0.24388	1.309000	0.44985	0.184000	0.17185	GAC	.		0.294	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075	
UNK	85451	ucsc.edu;bcgsc.ca	37	17	73808351	73808351	+	Missense_Mutation	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr17:73808351C>T	ENST00000589666.1	+	3	583	c.473C>T	c.(472-474)tCc>tTc	p.S158F	UNK_ENST00000293218.3_Missense_Mutation_p.S234F	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	158							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACCTCCGCTCCCCTGTCTAC	0.607																																					p.S158F		.											.	UNK	68	0			c.C473T						.						85.0	99.0	94.0					17																	73808351		2154	4253	6407	SO:0001583	missense	85451	exon3			TCCGCTCCCCTGT	AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.473C>T	17.37:g.73808351C>T	ENSP00000464893:p.Ser158Phe	61.0	0.0		48.0	4.0	NM_001080419		Missense_Mutation	SNP	ENST00000589666.1	37	CCDS45778.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842813	0.71488	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.93	4.93	0.64822	.	0.166885	0.52532	D	0.000064	T	0.72708	0.3494	L	0.59436	1.845	0.54753	D	0.999981	D	0.61080	0.989	P	0.56278	0.795	T	0.76836	-0.2812	9	0.87932	D	0	-8.0191	18.1696	0.89740	0.0:1.0:0.0:0.0	.	158	Q9C0B0	UNK_HUMAN	F	234	.	ENSP00000293218:S234F	S	+	2	0	UNK	71319946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.208000	0.51114	2.287000	0.76781	0.555000	0.69702	TCC	.		0.607	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1	NM_001080419	
WDR18	57418	ucsc.edu;bcgsc.ca	37	19	990892	990892	+	Missense_Mutation	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:990892T>C	ENST00000251289.5	+	5	661	c.638T>C	c.(637-639)cTc>cCc	p.L213P	WDR18_ENST00000587001.2_Missense_Mutation_p.L213P	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	213			L -> F (in dbSNP:rs35068100).		multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCCGTCCTCTTTGACGTG	0.652																																					p.L213P		.											.	WDR18	91	0			c.T638C						.						63.0	61.0	62.0					19																	990892		2202	4298	6500	SO:0001583	missense	57418	exon5			CCGTCCTCTTTGA		CCDS12051.1	19p13.3	2013-01-09				ENSG00000065268		"""WD repeat domain containing"""	17956	protein-coding gene	gene with protein product	"""Involved in Processing ITS2 3 homolog (S. cerevisiae)"""					22190735	Standard	NM_024100		Approved	Ipi3	uc002lqm.1	Q9BV38		ENST00000251289.5:c.638T>C	19.37:g.990892T>C	ENSP00000251289:p.Leu213Pro	75.0	0.0		49.0	5.0	NM_024100	O60390|Q9BWR2	Missense_Mutation	SNP	ENST00000251289.5	37	CCDS12051.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637528	0.47049	.	.	ENSG00000065268	ENST00000251289	T	0.18174	2.23	4.03	4.03	0.46877	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.30230	0.0758	M	0.72894	2.215	0.80722	D	1	D	0.58620	0.983	P	0.53988	0.739	T	0.04565	-1.0942	10	0.31617	T	0.26	.	12.3043	0.54893	0.0:0.0:0.0:1.0	.	213	Q9BV38	WDR18_HUMAN	P	213	ENSP00000251289:L213P	ENSP00000251289:L213P	L	+	2	0	WDR18	941892	0.986000	0.35501	0.054000	0.19295	0.049000	0.14656	7.382000	0.79729	1.702000	0.51228	0.482000	0.46254	CTC	.		0.652	WDR18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458225.2		
WWP2	11060	ucsc.edu;bcgsc.ca	37	16	69973316	69973316	+	Splice_Site	SNP	G	G	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr16:69973316G>C	ENST00000359154.2	+	23	2614	c.2513G>C	c.(2512-2514)tGc>tCc	p.C838S	WWP2_ENST00000542271.1_Splice_Site_p.C722S|WWP2_ENST00000568684.1_Splice_Site_p.C399S|WWP2_ENST00000448661.1_Splice_Site_p.C838S|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Splice_Site_p.C838S	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	838	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCCACACCTGGTGAGCCTGC	0.577																																					p.C838S		.											.	WWP2	658	0			c.G2513C						.						60.0	57.0	58.0					16																	69973316		2198	4300	6498	SO:0001630	splice_region_variant	11060	exon23			ACACCTGGTGAGC	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2513+1G>C	16.37:g.69973316G>C		36.0	0.0		25.0	4.0	NM_001270454	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530218	0.85706	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65	4.97	4.97	0.65823	HECT (4);	0.087086	0.85682	D	0.000000	D	0.99324	0.9763	H	0.98525	4.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98481	1.0605	9	.	.	.	.	18.2354	0.89948	0.0:0.0:1.0:0.0	.	838	O00308	WWP2_HUMAN	S	838;838;838;725;722	ENSP00000352069:C838S;ENSP00000396871:C838S;ENSP00000348283:C838S;ENSP00000445616:C722S	.	C	+	2	0	WWP2	68530817	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.359000	0.97115	2.296000	0.77279	0.561000	0.74099	TGC	.		0.577	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014	Missense_Mutation
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	168100450	168100450	+	Silent	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:168100450T>C	ENST00000409195.1	+	9	2637	c.2548T>C	c.(2548-2550)Tta>Cta	p.L850L	XIRP2_ENST00000409273.1_Silent_p.L628L|XIRP2_ENST00000295237.9_Silent_p.L850L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	675					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACCCAGCCATTAGACATTCT	0.368																																					p.L850L		.											.	XIRP2	104	0			c.T2548C						.						106.0	105.0	105.0					2																	168100450		1837	4093	5930	SO:0001819	synonymous_variant	129446	exon9			CAGCCATTAGACA	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.2548T>C	2.37:g.168100450T>C		173.0	0.0		135.0	55.0	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	CCDS42769.1																																																																																			.		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	168104420	168104420	+	Missense_Mutation	SNP	G	G	T	rs375925351		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr2:168104420G>T	ENST00000409195.1	+	9	6607	c.6518G>T	c.(6517-6519)gGa>gTa	p.G2173V	XIRP2_ENST00000409273.1_Missense_Mutation_p.G1951V|XIRP2_ENST00000295237.9_Missense_Mutation_p.G2173V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1998	Pro-rich.				actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGCCAGTTGGAGGAACTTAC	0.353																																					p.G2173V		.											.	XIRP2	104	0			c.G6518T						.						41.0	39.0	40.0					2																	168104420		1843	4084	5927	SO:0001583	missense	129446	exon9			CAGTTGGAGGAAC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6518G>T	2.37:g.168104420G>T	ENSP00000386840:p.Gly2173Val	124.0	0.0		116.0	55.0	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.259266	0.39995	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.21734	1.99;1.99;1.99	5.84	0.185	0.15096	.	1.178370	0.05809	N	0.613663	T	0.17534	0.0421	L	0.54323	1.7	0.09310	N	1	B;B;B	0.18610	0.017;0.029;0.029	B;B;B	0.21151	0.008;0.018;0.033	T	0.34030	-0.9845	10	0.21540	T	0.41	-2.0792	1.5813	0.02635	0.3283:0.1381:0.3935:0.1401	.	1998;1998;1951	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	V	2173;2173;1951	ENSP00000386840:G2173V;ENSP00000295237:G2173V;ENSP00000387255:G1951V	ENSP00000295237:G2173V	G	+	2	0	XIRP2	167812666	0.000000	0.05858	0.001000	0.08648	0.618000	0.37518	0.543000	0.23237	0.096000	0.17463	-0.142000	0.14014	GGA	.		0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
ZBTB38	253461	ucsc.edu;bcgsc.ca	37	3	141162187	141162187	+	Silent	SNP	C	C	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr3:141162187C>T	ENST00000514251.1	+	4	1236	c.957C>T	c.(955-957)tcC>tcT	p.S319S	ZBTB38_ENST00000321464.5_Silent_p.S320S|ZBTB38_ENST00000441582.2_Silent_p.S319S					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCCATTTTTCCAGGGAAGATG	0.458																																					p.S319S		.											.	ZBTB38	25	0			c.C957T						.						68.0	68.0	68.0					3																	141162187		1902	4110	6012	SO:0001819	synonymous_variant	253461	exon8			TTTTTCCAGGGAA	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.957C>T	3.37:g.141162187C>T		42.0	0.0		46.0	5.0	NM_001080412		Silent	SNP	ENST00000514251.1	37	CCDS43157.1																																																																																			.		0.458	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2		
ZCCHC5	203430	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	77913190	77913190	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chrX:77913190G>T	ENST00000321110.1	-	2	1023	c.728C>A	c.(727-729)aCc>aAc	p.T243N		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	243							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCCACTGAAGGTTAAAGTGTA	0.502																																					p.T243N		.											.	ZCCHC5	131	0			c.C728A						.						26.0	24.0	25.0					X																	77913190		2203	4300	6503	SO:0001583	missense	203430	exon2			CTGAAGGTTAAAG	AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.728C>A	X.37:g.77913190G>T	ENSP00000316794:p.Thr243Asn	39.0	1.0		38.0	35.0	NM_152694	B2RMZ0|Q5JQE9	Missense_Mutation	SNP	ENST00000321110.1	37	CCDS14440.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281825	0.01398	.	.	ENSG00000179300	ENST00000321110	T	0.19250	2.16	3.16	1.26	0.21427	.	0.457459	0.15941	U	0.237161	T	0.11750	0.0286	L	0.39898	1.24	0.09310	N	1	B	0.29432	0.244	B	0.19666	0.026	T	0.25012	-1.0144	10	0.20046	T	0.44	.	2.7848	0.05371	0.1674:0.0:0.5572:0.2754	.	243	Q8N8U3	ZCHC5_HUMAN	N	243	ENSP00000316794:T243N	ENSP00000316794:T243N	T	-	2	0	ZCCHC5	77799846	0.004000	0.15560	0.003000	0.11579	0.001000	0.01503	0.083000	0.14871	0.192000	0.20272	0.436000	0.28706	ACC	.		0.502	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057319.1	NM_152694	
ZMYM2	7750	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	20567272	20567272	+	Silent	SNP	G	G	A			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr13:20567272G>A	ENST00000382874.2	+	4	250	c.60G>A	c.(58-60)ggG>ggA	p.G20G	ZMYM2_ENST00000382871.2_Silent_p.G20G|ZMYM2_ENST00000382881.3_Silent_p.G20G|ZMYM2_ENST00000382869.3_Silent_p.G20G	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	20					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTTTATTAGGGAGTACGGCCA	0.393																																					p.G20G		.											.	ZMYM2	685	0			c.G60A						.						141.0	140.0	140.0					13																	20567272		2062	4244	6306	SO:0001819	synonymous_variant	7750	exon4			ATTAGGGAGTACG	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.60G>A	13.37:g.20567272G>A		99.0	0.0		123.0	54.0	NM_001190964	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	CCDS45016.1																																																																																			.		0.393	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453	
ZNF160	90338	ucsc.edu;bcgsc.ca	37	19	53572755	53572755	+	Silent	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:53572755A>G	ENST00000429604.1	-	7	1447	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N	ZNF160_ENST00000418871.1_Silent_p.N344N|ZNF160_ENST00000599056.1_Silent_p.N344N|ZNF160_ENST00000601421.1_Silent_p.N308N	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	344					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTCCACACTCATTACACTTGT	0.403																																					p.N344N		.											.	ZNF160	90	0			c.T1032C						.						85.0	86.0	86.0					19																	53572755		2203	4300	6503	SO:0001819	synonymous_variant	90338	exon7			ACACTCATTACAC	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1032T>C	19.37:g.53572755A>G		58.0	0.0		61.0	6.0	NM_001102603	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Silent	SNP	ENST00000429604.1	37	CCDS12859.1																																																																																			.		0.403	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288	
ZNF197	10168	ucsc.edu;bcgsc.ca	37	3	44684049	44684049	+	Missense_Mutation	SNP	A	A	G			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	.	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr3:44684049A>G	ENST00000396058.1	+	5	1594	c.1427A>G	c.(1426-1428)cAt>cGt	p.H476R	ZNF197_ENST00000344387.4_Missense_Mutation_p.H476R|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	476					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		CTAAGGCGCCATTCAGGGGAG	0.458																																					p.H476R		.											.	ZNF197	230	0			c.A1427G						.						49.0	53.0	51.0					3																	44684049		2203	4300	6503	SO:0001583	missense	10168	exon6			GGCGCCATTCAGG	AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.1427A>G	3.37:g.44684049A>G	ENSP00000379370:p.His476Arg	40.0	0.0		40.0	5.0	NM_006991	B2RAH8|Q86VG0	Missense_Mutation	SNP	ENST00000396058.1	37	CCDS2717.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419354	0.62622	.	.	ENSG00000186448	ENST00000344387;ENST00000396058	T;T	0.67523	-0.27;-0.27	4.53	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36303	N	0.002673	D	0.84370	0.5457	M	0.91459	3.21	0.45733	D	0.99863	D	0.89917	1.0	D	0.87578	0.998	D	0.87812	0.2632	10	0.72032	D	0.01	.	13.2695	0.60153	1.0:0.0:0.0:0.0	.	476	O14709	ZN197_HUMAN	R	476	ENSP00000345809:H476R;ENSP00000379370:H476R	ENSP00000345809:H476R	H	+	2	0	ZNF197	44659053	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.879000	0.75572	2.026000	0.59711	0.451000	0.29950	CAT	.		0.458	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256747.4	NM_006991	
ZNF43	7594	broad.mit.edu;ucsc.edu;mdanderson.org	37	19	21990784	21990784	+	Silent	SNP	T	T	C			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	.	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:21990784T>C	ENST00000354959.4	-	4	2224	c.2055A>G	c.(2053-2055)aaA>aaG	p.K685K	ZNF43_ENST00000598381.1_Silent_p.K679K|ZNF43_ENST00000594012.1_Silent_p.K679K|ZNF43_ENST00000595461.1_Silent_p.K679K	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	685					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		GTTTAAAAGCTTTGCCACATT	0.378																																					p.K694K		.											.	ZNF43	154	0			c.A2082G						.						49.0	53.0	52.0					19																	21990784		2168	4280	6448	SO:0001819	synonymous_variant	7594	exon4			AAAAGCTTTGCCA	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2055A>G	19.37:g.21990784T>C		17.0	0.0		13.0	6.0	NM_001256653	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Silent	SNP	ENST00000354959.4	37	CCDS12413.2																																																																																			.		0.378	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423	
ZNF676	163223	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	22363944	22363944	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:22363944G>T	ENST00000397121.2	-	3	892	c.575C>A	c.(574-576)aCt>aAt	p.T192N		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTCTCTCCAGTATGAATACT	0.348																																					p.T192N		.											.	ZNF676	90	0			c.C575A						.						52.0	56.0	55.0					19																	22363944		2031	4219	6250	SO:0001583	missense	163223	exon3			TCTCCAGTATGAA	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.575C>A	19.37:g.22363944G>T	ENSP00000380310:p.Thr192Asn	46.0	0.0		55.0	29.0	NM_001001411	A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	7.323	0.617441	0.14129	.	.	ENSG00000196109	ENST00000397121	T	0.26067	1.76	1.03	-2.06	0.07298	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33644	0.0870	M	0.71036	2.16	0.21933	N	0.999468	P	0.46987	0.888	P	0.52386	0.697	T	0.23332	-1.0191	9	0.72032	D	0.01	.	3.9636	0.09421	0.1909:0.0:0.5787:0.2305	.	192	Q8N7Q3	ZN676_HUMAN	N	192	ENSP00000380310:T192N	ENSP00000380310:T192N	T	-	2	0	ZNF676	22155784	0.799000	0.28903	0.005000	0.12908	0.031000	0.12232	1.222000	0.32515	-0.631000	0.05560	0.195000	0.17529	ACT	.		0.348	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZSCAN5A	79149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	56735066	56735066	+	Silent	SNP	T	T	C	rs199886337		TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:56735066T>C	ENST00000587340.1	-	5	1217	c.522A>G	c.(520-522)ccA>ccG	p.P174P	ZSCAN5A_ENST00000592355.1_Silent_p.P174P|ZSCAN5A_ENST00000391713.1_Silent_p.P174P|ZSCAN5A_ENST00000587492.1_Silent_p.P28P|ZSCAN5A_ENST00000254165.3_Silent_p.P57P			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	174					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGCCTTCCCCTGGACGCATCT	0.612																																					p.P174P		.											.	ZSCAN5A	155	0			c.A522G						.						67.0	60.0	62.0					19																	56735066		2203	4300	6503	SO:0001819	synonymous_variant	79149	exon3			TTCCCCTGGACGC	AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.522A>G	19.37:g.56735066T>C		44.0	0.0		32.0	16.0	NM_024303	B4DX98|Q49A73|Q53F04|Q8N7B3	Silent	SNP	ENST00000587340.1	37	CCDS12941.1																																																																																			T|0.999;C|0.001		0.612	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303	
ZNF71	58491	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	57133787	57133787	+	Missense_Mutation	SNP	G	G	T			TCGA-EP-A26S-01A-11D-A16V-10	TCGA-EP-A26S-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	463bf060-8ba6-4a73-8173-172025f7b527	b2075602-828f-4788-9c30-978a3ca744bd	g.chr19:57133787G>T	ENST00000328070.6	+	3	1366	c.1132G>T	c.(1132-1134)Ggc>Tgc	p.G378C		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	378					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(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CATCCACACCGGCGAGAAGCC	0.627																																					p.G378C		.											.	ZNF71	91	0			c.G1132T						.						94.0	79.0	84.0					19																	57133787		2203	4300	6503	SO:0001583	missense	58491	exon3			CACACCGGCGAGA	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1132G>T	19.37:g.57133787G>T	ENSP00000328245:p.Gly378Cys	118.0	0.0		78.0	30.0	NM_021216	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	ENST00000328070.6	37	CCDS12947.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670820	0.47781	.	.	ENSG00000197951	ENST00000328070	T	0.26660	1.72	3.58	3.58	0.41010	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47875	0.1469	M	0.79258	2.445	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27262	-1.0079	9	0.87932	D	0	.	6.744	0.23451	0.1285:0.0:0.8715:0.0	.	378	Q9NQZ8	ZNF71_HUMAN	C	378	ENSP00000328245:G378C	ENSP00000328245:G378C	G	+	1	0	ZNF71	61825599	0.994000	0.37717	0.049000	0.19019	0.895000	0.52256	4.080000	0.57620	1.815000	0.52974	0.561000	0.74099	GGC	.		0.627	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216	
