#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_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_Mutation_Status	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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
KIF1B	23095	ucsc.edu	37	1	10328256	10328256	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:10328256G>A	ENST00000377086.1	+	7	857	c.655G>A	c.(655-657)Gct>Act	p.A219T	KIF1B_ENST00000377093.4_Missense_Mutation_p.A219T|KIF1B_ENST00000377083.1_Missense_Mutation_p.A219T|KIF1B_ENST00000377081.1_Missense_Mutation_p.A219T|KIF1B_ENST00000263934.6_Missense_Mutation_p.A219T			O60333	KIF1B_HUMAN	kinesin family member 1B	219	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			AVF -> VVY (in Ref. 3; AAK49332, 4; AAK85155 and 5; AAN17742). {ECO:0000305}.	anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCGTTCCCACGCTGTGTTTAC	0.428																																					p.A219T													.	KIF1B-93	0			c.G655A						.						101.0	85.0	90.0					1																	10328256		2203	4300	6503	SO:0001583	missense	23095	exon7			TCCCACGCTGTGT	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.655G>A	1.37:g.10328256G>A	ENSP00000366290:p.Ala219Thr	Somatic	56	0		WXS	Illumina HiSeq		41	5	NM_183416	0	0	22	22	0	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	G	37	6.031073	0.97221	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	D;D;D;D;D	0.89343	-2.5;-2.5;-2.5;-2.5;-2.5	5.94	5.94	0.96194	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.94059	0.8096	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.985;1.0;1.0	D;D;D;D;P;D;D	0.91635	0.998;0.998;0.999;0.998;0.719;0.995;0.998	D	0.93833	0.7129	10	0.87932	D	0	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	219;219;219;219;219;219;219	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	T	219	ENSP00000263934:A219T;ENSP00000366297:A219T;ENSP00000366290:A219T;ENSP00000366287:A219T;ENSP00000366284:A219T	ENSP00000263934:A219T	A	+	1	0	KIF1B	10250843	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.869000	0.99810	2.820000	0.97059	0.650000	0.86243	GCT	.		0.428	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1		
MTOR	2475	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	11307790	11307790	+	Splice_Site	SNP	C	C	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:11307790C>A	ENST00000361445.4	-	8	1193	c.1117G>T	c.(1117-1119)Gtg>Ttg	p.V373L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	373	Interaction with NBN.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	CACTGGCACACCTGAGAGAGG	0.498																																					p.V373L		.											.	MTOR-1439	0			c.G1117T						.						95.0	94.0	94.0					1																	11307790		2203	4300	6503	SO:0001630	splice_region_variant	2475	exon8			GGCACACCTGAGA	L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.1117-1G>T	1.37:g.11307790C>A		Somatic	114	0		WXS	Illumina HiSeq	Phase_I	90	18	NM_004958	0	0	0	0	0	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.796328	0.50208	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.57273	0.41	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.52075	0.1712	M	0.69823	2.125	0.80722	D	1	B	0.26744	0.158	B	0.19391	0.025	T	0.53092	-0.8487	10	0.56958	D	0.05	-0.496	13.1719	0.59604	0.0:0.9275:0.0:0.0725	.	373	P42345	MTOR_HUMAN	L	373	ENSP00000354558:V373L	ENSP00000354558:V373L	V	-	1	0	MTOR	11230377	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	5.752000	0.68728	2.712000	0.92718	0.650000	0.86243	GTG	.		0.498	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	Missense_Mutation
ZMYM6	9204	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	35476600	35476600	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:35476600G>A	ENST00000357182.4	-	9	1327	c.1100C>T	c.(1099-1101)gCg>gTg	p.A367V	ZMYM6_ENST00000373340.2_Missense_Mutation_p.A367V|ZMYM6_ENST00000487874.1_Missense_Mutation_p.A367V|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	367					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.A367V(1)|p.A367E(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				CAGGGGCACCGCCGAAGAGTT	0.458																																					p.A367V		.											.	ZMYM6-93	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C1100T						.						53.0	53.0	53.0					1																	35476600		2203	4300	6503	SO:0001583	missense	9204	exon9			GGCACCGCCGAAG	AF055470	CCDS387.2	1p34.2	2014-05-12	2005-09-12	2005-09-12	ENSG00000163867	ENSG00000163867		"""Zinc fingers, MYM type"", ""Zinc fingers, BED-type"""	13050	protein-coding gene	gene with protein product	"""zinc finger, BED-type containing 7"""	613567	"""zinc finger protein 258"", ""zinc finger, MYM-type containing 6"""	ZNF258		10486218, 23533661	Standard	NM_007167		Approved	ZNF198L4, MYM, Buster2, ZBED7	uc001byh.3	O95789	OTTHUMG00000004163	ENST00000357182.4:c.1100C>T	1.37:g.35476600G>A	ENSP00000349708:p.Ala367Val	Somatic	87	1		WXS	Illumina HiSeq	Phase_I	95	37	NM_007167	0	0	2	6	4	B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4	Missense_Mutation	SNP	ENST00000357182.4	37	CCDS387.2	.	.	.	.	.	.	.	.	.	.	G	0.993	-0.693458	0.03303	.	.	ENSG00000163867	ENST00000373340;ENST00000357182	T;T	0.21191	2.02;3.19	5.2	-0.779	0.10973	.	0.649416	0.15854	N	0.241338	T	0.05181	0.0138	N	0.00926	-1.1	0.19575	N	0.999966	B;B;B	0.16166	0.016;0.004;0.001	B;B;B	0.08055	0.002;0.001;0.003	T	0.42716	-0.9435	10	0.07644	T	0.81	-7.0E-4	10.0213	0.42044	0.749:0.0:0.251:0.0	.	270;367;367	B4DWC0;O95789;O95789-1	.;ZMYM6_HUMAN;.	V	367	ENSP00000362437:A367V;ENSP00000349708:A367V	ENSP00000349708:A367V	A	-	2	0	ZMYM6	35249187	0.006000	0.16342	0.025000	0.17156	0.615000	0.37417	0.331000	0.19733	-0.009000	0.14296	0.655000	0.94253	GCG	.		0.458	ZMYM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011999.1	NM_007167	
GLMN	11146	hgsc.bcm.edu;broad.mit.edu	37	1	92712096	92712096	+	Silent	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:92712096C>G	ENST00000370360.3	-	19	1857	c.1776G>C	c.(1774-1776)ggG>ggC	p.G592G	GLMN_ENST00000534881.1_Silent_p.G578G	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	592					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTCACTTTATCCCAATATTTT	0.259									Multiple Glomus Tumors (of the Skin), Familial																												p.G592G		.											.	GLMN-227	0			c.G1776C						.						68.0	67.0	67.0					1																	92712096		2203	4297	6500	SO:0001819	synonymous_variant	11146	exon19	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	CTTTATCCCAATA	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1776G>C	1.37:g.92712096C>G		Somatic	38	0		WXS	Illumina HiSeq	Phase_I	39	3	NM_053274	0	0	1	1	0	Q5VVC3|Q9BVE8	Silent	SNP	ENST00000370360.3	37	CCDS738.1																																																																																			.		0.259	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028358.1	NM_007070	
LCE2A	353139	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	152671691	152671691	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:152671691G>C	ENST00000368779.1	+	2	365	c.314G>C	c.(313-315)tGc>tCc	p.C105S		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	105	Cys-rich.				keratinization (GO:0031424)					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGGGGACTGCTGCTGACCA	0.587																																					p.C105S		.											.	LCE2A-68	0			c.G314C						.						41.0	46.0	45.0					1																	152671691		2203	4300	6503	SO:0001583	missense	353139	exon2			GGGACTGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.314G>C	1.37:g.152671691G>C	ENSP00000357768:p.Cys105Ser	Somatic	121	0		WXS	Illumina HiSeq	Phase_I	127	32	NM_178428	0	0	0	0	0	A4QMZ9	Missense_Mutation	SNP	ENST00000368779.1	37	CCDS1021.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291835	0.23564	.	.	ENSG00000187173	ENST00000368779	T	0.03496	3.91	4.41	4.41	0.53225	.	.	.	.	.	T	0.09069	0.0224	M	0.71206	2.165	0.27116	N	0.962263	D	0.76494	0.999	D	0.78314	0.991	T	0.02691	-1.1123	9	0.87932	D	0	.	12.3335	0.55054	0.0:0.0:1.0:0.0	.	105	Q5TA79	LCE2A_HUMAN	S	105	ENSP00000357768:C105S	ENSP00000357768:C105S	C	+	2	0	LCE2A	150938315	0.999000	0.42202	1.000000	0.80357	0.737000	0.42083	1.350000	0.34010	2.253000	0.74438	0.650000	0.86243	TGC	.		0.587	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	NM_178428	
DHX9	1660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	182850707	182850707	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:182850707A>G	ENST00000367549.3	+	24	2949	c.2839A>G	c.(2839-2841)Atg>Gtg	p.M947V	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	947					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAGACTTAATATGGCTACACT	0.363																																					p.M947V	Colon(69;210 1162 3697 13559 39565)	.											.	DHX9-92	0			c.A2839G						.						111.0	103.0	105.0					1																	182850707		1829	4080	5909	SO:0001583	missense	1660	exon24			CTTAATATGGCTA	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.2839A>G	1.37:g.182850707A>G	ENSP00000356520:p.Met947Val	Somatic	144	0		WXS	Illumina HiSeq	Phase_I	105	76	NM_001357	0	0	12	154	142	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	9.958	1.221960	0.22457	.	.	ENSG00000135829	ENST00000367549	T	0.03468	3.92	5.94	5.94	0.96194	.	0.041899	0.85682	D	0.000000	T	0.05593	0.0147	L	0.52126	1.63	0.52501	D	0.999959	B;B	0.16396	0.002;0.017	B;B	0.10450	0.005;0.005	T	0.41197	-0.9522	10	0.17369	T	0.5	.	16.3945	0.83586	1.0:0.0:0.0:0.0	.	226;947	B3KU66;Q08211	.;DHX9_HUMAN	V	947	ENSP00000356520:M947V	ENSP00000356520:M947V	M	+	1	0	DHX9	181117330	1.000000	0.71417	0.999000	0.59377	0.825000	0.46686	6.735000	0.74806	2.265000	0.75225	0.482000	0.46254	ATG	.		0.363	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
ABCC2	1244	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	101569944	101569944	+	Silent	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr10:101569944C>T	ENST00000370449.4	+	14	1982	c.1869C>T	c.(1867-1869)gaC>gaT	p.D623D		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	623					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ATGACTTGGACACATCTGCCA	0.428																																					p.D623D													.	ABCC2-91	0			c.C1869T						.						113.0	100.0	104.0					10																	101569944		2203	4300	6503	SO:0001819	synonymous_variant	1244	exon14			CTTGGACACATCT	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1869C>T	10.37:g.101569944C>T		Somatic	78	0		WXS	Illumina HiSeq	Phase_I	48	18	NM_000392	0	0	32	70	38	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	CCDS7484.1																																																																																			.		0.428	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
GBF1	8729	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	104112265	104112265	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr10:104112265C>G	ENST00000369983.3	+	7	834	c.574C>G	c.(574-576)Ctc>Gtc	p.L192V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	192					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGTGCAGCTGCTCTTCACAAG	0.522											OREG0020477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L192V		.											.	GBF1-91	0			c.C574G						.						110.0	104.0	106.0					10																	104112265		2203	4300	6503	SO:0001583	missense	8729	exon7			CAGCTGCTCTTCA	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.574C>G	10.37:g.104112265C>G	ENSP00000359000:p.Leu192Val	Somatic	125	2	1379	WXS	Illumina HiSeq	Phase_I	91	31	NM_001199378	0	0	0	0	0	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052602	0.75960	.	.	ENSG00000107862	ENST00000369983	T	0.71341	-0.56	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	L	0.33668	1.02	0.80722	D	1	P;P;D;D	0.62365	0.853;0.76;0.962;0.991	B;B;P;P	0.61800	0.376;0.376;0.754;0.894	T	0.64799	-0.6322	10	0.05721	T	0.95	-15.5617	20.0452	0.97606	0.0:1.0:0.0:0.0	.	192;192;192;192	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	V	192	ENSP00000359000:L192V	ENSP00000359000:L192V	L	+	1	0	GBF1	104102255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.027000	0.70881	2.742000	0.94016	0.655000	0.94253	CTC	.		0.522	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1		
TRIM68	55128	hgsc.bcm.edu;broad.mit.edu	37	11	4621934	4621934	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:4621934A>G	ENST00000300747.5	-	7	1319	c.1030T>C	c.(1030-1032)Tat>Cat	p.Y344H		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	344	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACGATATTATAGCGGTAAAAT	0.532																																					p.Y344H		.											.	TRIM68-91	0			c.T1030C						.						64.0	65.0	65.0					11																	4621934		2201	4298	6499	SO:0001583	missense	55128	exon7			TATTATAGCGGTA	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.1030T>C	11.37:g.4621934A>G	ENSP00000300747:p.Tyr344His	Somatic	47	1		WXS	Illumina HiSeq	Phase_I	57	5	NM_018073	0	0	17	17	0	A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Missense_Mutation	SNP	ENST00000300747.5	37	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	A	17.49	3.403551	0.62288	.	.	ENSG00000167333	ENST00000300747;ENST00000544055;ENST00000526337	T;T	0.05139	3.49;3.49	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.47093	D	0.000243	T	0.09862	0.0242	L	0.31752	0.955	0.35969	D	0.835195	P	0.47253	0.892	P	0.52758	0.708	T	0.42515	-0.9447	10	0.16420	T	0.52	.	13.8758	0.63651	1.0:0.0:0.0:0.0	.	344	Q6AZZ1	TRI68_HUMAN	H	344;65;121	ENSP00000300747:Y344H;ENSP00000434681:Y121H	ENSP00000300747:Y344H	Y	-	1	0	TRIM68	4578510	0.005000	0.15991	0.998000	0.56505	0.801000	0.45260	1.935000	0.40173	2.230000	0.72887	0.459000	0.35465	TAT	.		0.532	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073	
RTN3	10313	hgsc.bcm.edu	37	11	63487952	63487952	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:63487952G>C	ENST00000377819.5	+	3	2132	c.1978G>C	c.(1978-1980)Gaa>Caa	p.E660Q	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.E548Q|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.E641Q	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	660					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AGCCTTTACAGAAACCAGAGA	0.358																																					p.E660Q		.											.	RTN3-91	0			c.G1978C						.						45.0	48.0	47.0					11																	63487952		2201	4298	6499	SO:0001583	missense	10313	exon3			TTTACAGAAACCA	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.1978G>C	11.37:g.63487952G>C	ENSP00000367050:p.Glu660Gln	Somatic	63	1		WXS	Illumina HiSeq	Phase_I	43	3	NM_001265589	0	0	0	0	0	B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Missense_Mutation	SNP	ENST00000377819.5	37	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126831	0.37533	.	.	ENSG00000133318	ENST00000377819;ENST00000339997;ENST00000540798	T;T;T	0.28255	1.62;1.62;1.65	5.77	4.86	0.63082	.	0.471231	0.19821	N	0.105314	T	0.36054	0.0953	N	0.19112	0.55	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;D	0.64877	0.93;0.852;0.93	T	0.11348	-1.0591	10	0.42905	T	0.14	-8.9759	11.0223	0.47726	0.0859:0.0:0.9141:0.0	.	548;660;641	F5H774;O95197;O95197-2	.;RTN3_HUMAN;.	Q	660;641;548	ENSP00000367050:E660Q;ENSP00000344106:E641Q;ENSP00000442733:E548Q	ENSP00000344106:E641Q	E	+	1	0	RTN3	63244528	0.992000	0.36948	0.386000	0.26170	0.135000	0.20990	2.937000	0.48979	1.572000	0.49736	0.655000	0.94253	GAA	.		0.358	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	NM_006054	
GAL3ST3	89792	hgsc.bcm.edu	37	11	65810436	65810436	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:65810436G>C	ENST00000312006.4	-	3	1119	c.838C>G	c.(838-840)Ccc>Gcc	p.P280A	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.P280A	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	280					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						agcgccgcggggATGGCGGCC	0.751																																					p.P280A		.											.	GAL3ST3-91	0			c.C838G						.						4.0	4.0	4.0					11																	65810436		1979	3721	5700	SO:0001583	missense	89792	exon3			CCGCGGGGATGGC	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.838C>G	11.37:g.65810436G>C	ENSP00000308591:p.Pro280Ala	Somatic	21	0		WXS	Illumina HiSeq	Phase_I	14	3	NM_033036	0	0	0	0	0	Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618323	0.28801	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.13420	2.59;2.59	4.58	4.58	0.56647	.	0.000000	0.64402	D	0.000001	T	0.12732	0.0309	L	0.43757	1.38	0.36719	D	0.881081	B	0.29988	0.264	B	0.26517	0.07	T	0.12400	-1.0549	10	0.35671	T	0.21	-32.1229	13.2513	0.60053	0.0:0.0:1.0:0.0	.	280	Q96A11	G3ST3_HUMAN	A	280	ENSP00000308591:P280A;ENSP00000434829:P280A	ENSP00000308591:P280A	P	-	1	0	GAL3ST3	65567012	0.999000	0.42202	1.000000	0.80357	0.181000	0.23173	2.925000	0.48884	2.256000	0.74724	0.555000	0.69702	CCC	.		0.751	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036	
GRM5	2915	broad.mit.edu	37	11	88242044	88242044	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:88242044G>A	ENST00000305447.4	-	9	3504	c.3355C>T	c.(3355-3357)Ccg>Tcg	p.P1119S	GRM5_ENST00000455756.2_Missense_Mutation_p.P1087S|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Missense_Mutation_p.P1087S|GRM5_ENST00000418177.2_Missense_Mutation_p.P1119S|GRM5-AS1_ENST00000526448.1_RNA|GRM5-AS1_ENST00000531994.1_RNA	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1119					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCGATGGCCGGCAGAGGCTGG	0.736																																					p.P1119S													.	GRM5-949	0			c.C3355T						.						10.0	11.0	11.0					11																	88242044		2196	4291	6487	SO:0001583	missense	2915	exon9			TGGCCGGCAGAGG	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3355C>T	11.37:g.88242044G>A	ENSP00000306138:p.Pro1119Ser	Somatic	14	0		WXS	Illumina HiSeq	Phase_I	21	7	NM_001143831	0	0	1	1	0	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721048	0.48728	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.91180	-2.8;-2.8;-2.8;-2.8	4.94	4.94	0.65067	.	0.123369	0.56097	D	0.000038	D	0.92126	0.7504	L	0.29908	0.895	0.42403	D	0.992578	B;D	0.69078	0.052;0.997	B;D	0.75484	0.022;0.986	D	0.91570	0.5271	9	.	.	.	.	18.1622	0.89712	0.0:0.0:1.0:0.0	.	1087;1119	P41594-2;P41594	.;GRM5_HUMAN	S	1119;1087;1087;1119	ENSP00000402912:P1119S;ENSP00000405690:P1087S;ENSP00000305905:P1087S;ENSP00000306138:P1119S	.	P	-	1	0	GRM5	87881692	1.000000	0.71417	0.515000	0.27774	0.898000	0.52572	6.876000	0.75556	2.260000	0.74910	0.563000	0.77884	CCG	.		0.736	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
MMP27	64066	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	102567479	102567479	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:102567479G>A	ENST00000260229.4	-	5	798	c.707C>T	c.(706-708)cCa>cTa	p.P236L		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	236					collagen catabolic process (GO:0030574)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)	Marimastat(DB00786)	GACATAATTTGGGAACATCAA	0.398																																					p.P236L													.	MMP27-229	0			c.C707T						.						93.0	86.0	88.0					11																	102567479		2203	4299	6502	SO:0001583	missense	64066	exon5			TAATTTGGGAACA	AF195192	CCDS8319.1	11q24	2008-07-18	2005-08-08		ENSG00000137675	ENSG00000137675			14250	protein-coding gene	gene with protein product	"""matrix metalloprotease 27"""		"""matrix metalloproteinase 27"""			10419448	Standard	NM_022122		Approved		uc001phd.1	Q9H306	OTTHUMG00000168099	ENST00000260229.4:c.707C>T	11.37:g.102567479G>A	ENSP00000260229:p.Pro236Leu	Somatic	50	0		WXS	Illumina HiSeq	Phase_I	41	6	NM_022122	0	0	0	0	0	Q6UWK6	Missense_Mutation	SNP	ENST00000260229.4	37	CCDS8319.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010972	0.93346	.	.	ENSG00000137675	ENST00000260229	T	0.55930	0.49	5.74	5.74	0.90152	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000016	D	0.83640	0.5298	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88931	0.3373	10	0.87932	D	0	.	19.9306	0.97117	0.0:0.0:1.0:0.0	.	236	Q9H306	MMP27_HUMAN	L	236	ENSP00000260229:P236L	ENSP00000260229:P236L	P	-	2	0	MMP27	102072689	1.000000	0.71417	0.984000	0.44739	0.966000	0.64601	9.476000	0.97823	2.732000	0.93576	0.591000	0.81541	CCA	.		0.398	MMP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398128.1	NM_022122	
POU2AF1	5450	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	111225200	111225200	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:111225200A>G	ENST00000393067.3	-	5	1071	c.557T>C	c.(556-558)cTa>cCa	p.L186P		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	186					humoral immune response (GO:0006959)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGAGGTGGGTAGTGTGGAAAG	0.667			T	BCL6	NHL																																p.L186P		.		Dom	yes		11	11q23.1	5450	"""POU domain, class 2, associating factor 1 (OBF1)"""		L	.	POU2AF1-658	0			c.T557C						.						40.0	47.0	44.0					11																	111225200		2201	4297	6498	SO:0001583	missense	5450	exon5			GTGGGTAGTGTGG		CCDS31675.1	11q23.1	2011-06-01	2007-07-13			ENSG00000110777			9211	protein-coding gene	gene with protein product		601206	"""POU domain class 2, associating factor 1"""			8617501	Standard	NM_006235		Approved	OBF1	uc001plg.4	Q16633		ENST00000393067.3:c.557T>C	11.37:g.111225200A>G	ENSP00000376786:p.Leu186Pro	Somatic	63	1		WXS	Illumina HiSeq	Phase_I	71	25	NM_006235	0	0	1	1	0	B2R8Z9|Q14983	Missense_Mutation	SNP	ENST00000393067.3	37	CCDS31675.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101018	0.76983	.	.	ENSG00000110777	ENST00000393067	T	0.36340	1.26	4.87	4.87	0.63330	.	0.098087	0.42548	D	0.000687	T	0.56077	0.1961	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59952	-0.7357	10	0.87932	D	0	-34.107	14.3077	0.66395	1.0:0.0:0.0:0.0	.	186	Q16633	OBF1_HUMAN	P	186	ENSP00000376786:L186P	ENSP00000376786:L186P	L	-	2	0	POU2AF1	110730410	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	6.561000	0.73955	2.043000	0.60533	0.460000	0.39030	CTA	.		0.667	POU2AF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391002.1	NM_006235	
SLC6A13	6540	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	346409	346409	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:346409A>T	ENST00000343164.4	-	6	663	c.611T>A	c.(610-612)cTg>cAg	p.L204Q	SLC6A13_ENST00000445055.2_Missense_Mutation_p.L112Q	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	204					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CTCCCAGCGCAGGGCCCCCAG	0.602																																					p.L204Q		.											.	SLC6A13-90	0			c.T611A						.						66.0	69.0	68.0					12																	346409		2203	4300	6503	SO:0001583	missense	6540	exon6			CAGCGCAGGGCCC	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.611T>A	12.37:g.346409A>T	ENSP00000339260:p.Leu204Gln	Somatic	133	0		WXS	Illumina HiSeq	Phase_I	164	41	NM_016615	0	0	98	135	37	B4DJL1|Q8TCC2|Q8WW56	Missense_Mutation	SNP	ENST00000343164.4	37	CCDS8502.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.892851	0.91889	.	.	ENSG00000010379	ENST00000445055;ENST00000313154;ENST00000343164;ENST00000546319	T;T;T	0.78003	-1.14;-1.14;-1.14	5.5	5.5	0.81552	.	0.070471	0.64402	D	0.000018	D	0.90428	0.7003	M	0.92317	3.295	0.80722	D	1	D;D;D	0.76494	0.976;0.999;0.996	D;D;D	0.71414	0.964;0.973;0.964	D	0.92683	0.6160	10	0.87932	D	0	.	15.8304	0.78745	1.0:0.0:0.0:0.0	.	112;183;204	B4DJL1;B4DJS3;Q9NSD5	.;.;S6A13_HUMAN	Q	112;183;204;112	ENSP00000407104:L112Q;ENSP00000339260:L204Q;ENSP00000444606:L112Q	ENSP00000318097:L183Q	L	-	2	0	SLC6A13	216670	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.127000	0.94417	2.322000	0.78497	0.529000	0.55759	CTG	.		0.602	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615	
ATN1	1822	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	7046365	7046365	+	Silent	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:7046365C>G	ENST00000356654.4	+	5	2172	c.1935C>G	c.(1933-1935)tcC>tcG	p.S645S	ATN1_ENST00000396684.2_Silent_p.S645S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	645					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGCCCCGTCCCCGGGGGCCT	0.672																																					p.S645S		.											.	ATN1-139	0			c.C1935G						.						22.0	27.0	25.0					12																	7046365		2201	4291	6492	SO:0001819	synonymous_variant	1822	exon5			CCCGTCCCCGGGG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1935C>G	12.37:g.7046365C>G		Somatic	76	0		WXS	Illumina HiSeq	Phase_I	95	54	NM_001007026	0	0	99	235	136	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																			.		0.672	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
TAS2R13	50838	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	11061866	11061866	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:11061866A>C	ENST00000390677.2	-	1	295	c.32T>G	c.(31-33)cTt>cGt	p.L11R	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	11					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AATTATTACAAGAGTGAAGAT	0.388																																					p.L11R		.											.	TAS2R13-154	0			c.T32G						.						39.0	38.0	39.0					12																	11061866		2202	4298	6500	SO:0001583	missense	50838	exon1			ATTACAAGAGTGA	AF227137	CCDS8635.1	12p13	2012-08-22			ENSG00000212128	ENSG00000212128		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14919	protein-coding gene	gene with protein product		604792				10761934, 10766242	Standard	NM_023920		Approved	T2R13, TRB3	uc001qzg.1	Q9NYV9		ENST00000390677.2:c.32T>G	12.37:g.11061866A>C	ENSP00000375095:p.Leu11Arg	Somatic	41	0		WXS	Illumina HiSeq	Phase_I	54	31	NM_023920	0	0	0	0	0	Q4G0I5|Q502V8|Q645X2	Missense_Mutation	SNP	ENST00000390677.2	37	CCDS8635.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.068962	0.36470	.	.	ENSG00000212128	ENST00000390677	T	0.00922	5.54	3.3	2.14	0.27477	.	0.745999	0.10446	U	0.673619	T	0.02888	0.0086	M	0.76328	2.33	0.09310	N	1	P	0.48834	0.916	P	0.54026	0.74	T	0.42582	-0.9443	10	0.87932	D	0	.	5.1506	0.15007	0.8598:0.0:0.1402:0.0	.	11	Q9NYV9	T2R13_HUMAN	R	11	ENSP00000375095:L11R	ENSP00000375095:L11R	L	-	2	0	TAS2R13	10953133	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.614000	0.24314	0.456000	0.26937	0.533000	0.62120	CTT	.		0.388	TAS2R13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400229.1		
GPR182	11318	broad.mit.edu	37	12	57389326	57389326	+	Silent	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:57389326G>A	ENST00000300098.1	+	2	552	c.333G>A	c.(331-333)ctG>ctA	p.L111L	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	111					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						TGTGGATGCTGGAGGTCACGC	0.582																																					p.L111L													.	GPR182-500	0			c.G333A						.						135.0	114.0	121.0					12																	57389326		2203	4300	6503	SO:0001819	synonymous_variant	11318	exon2			GATGCTGGAGGTC	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.333G>A	12.37:g.57389326G>A		Somatic	90	0		WXS	Illumina HiSeq	Phase_I	108	5	NM_007264	0	0	0	0	0		Silent	SNP	ENST00000300098.1	37	CCDS8927.1																																																																																			.		0.582	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264	
DPY19L2	283417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	64041138	64041138	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:64041138A>T	ENST00000324472.4	-	5	779	c.596T>A	c.(595-597)aTa>aAa	p.I199K	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	199					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCAGGAGGCTATGATTACCTT	0.299																																					p.I199K		.											.	DPY19L2-515	0			c.T596A						.						60.0	65.0	63.0					12																	64041138		2203	4297	6500	SO:0001583	missense	283417	exon5			GAGGCTATGATTA		CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.596T>A	12.37:g.64041138A>T	ENSP00000315988:p.Ile199Lys	Somatic	148	0		WXS	Illumina HiSeq	Phase_I	189	40	NM_173812	0	0	0	0	0	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378802	0.24944	.	.	ENSG00000177990	ENST00000324472	T	0.56275	0.47	2.35	2.35	0.29111	.	0.184092	0.34828	U	0.003648	T	0.59046	0.2165	M	0.66939	2.045	0.58432	D	0.999995	D	0.53619	0.961	P	0.57009	0.811	T	0.57808	-0.7747	9	.	.	.	.	6.5488	0.22420	1.0:0.0:0.0:0.0	.	199	Q6NUT2	D19L2_HUMAN	K	199	ENSP00000315988:I199K	.	I	-	2	0	DPY19L2	62327405	0.987000	0.35691	0.069000	0.20011	0.326000	0.28443	5.607000	0.67648	1.080000	0.41073	0.155000	0.16302	ATA	.		0.299	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812	
RFX4	5992	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	107154995	107154995	+	Silent	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:107154995T>A	ENST00000392842.1	+	18	2370	c.1956T>A	c.(1954-1956)acT>acA	p.T652T	RFX4_ENST00000357881.4_Silent_p.T661T|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Silent_p.T558T	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	652					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATAGCCCCACTTCCCGGATGG	0.468																																					p.T661T		.											.	RFX4-91	0			c.T1983A						.						190.0	205.0	200.0					12																	107154995		2203	4300	6503	SO:0001819	synonymous_variant	5992	exon18			CCCCACTTCCCGG	AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.1956T>A	12.37:g.107154995T>A		Somatic	430	1		WXS	Illumina HiSeq	Phase_I	528	282	NM_001206691	0	0	0	0	0	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Silent	SNP	ENST00000392842.1	37	CCDS9106.1																																																																																			.		0.468	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402707.1	NM_032491	
NOS1	4842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	117655909	117655909	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:117655909T>C	ENST00000338101.4	-	28	4337	c.4333A>G	c.(4333-4335)Aac>Gac	p.N1445D	NOS1_ENST00000317775.6_Missense_Mutation_p.N1411D|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CTAAGGCGGTTGGTCACTTCG	0.498																																					p.N1445D	Esophageal Squamous(162;1748 2599 51982 52956)	.											.	NOS1-154	0			c.A4333G						.						312.0	309.0	310.0					12																	117655909		1986	4167	6153	SO:0001583	missense	4842	exon29			GGCGGTTGGTCAC		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4333A>G	12.37:g.117655909T>C	ENSP00000337459:p.Asn1445Asp	Somatic	458	0		WXS	Illumina HiSeq	Phase_I	603	135	NM_001204218	0	0	0	0	0		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	17.40	3.379742	0.61845	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000338101	T;T	0.01397	4.94;4.99	4.57	4.57	0.56435	.	0.093612	0.85682	D	0.000000	T	0.02342	0.0072	L	0.59436	1.845	0.80722	D	1	P	0.36412	0.552	B	0.35039	0.194	T	0.60393	-0.7272	10	0.38643	T	0.18	-42.2525	14.0843	0.64944	0.0:0.0:0.0:1.0	.	1411	P29475	NOS1_HUMAN	D	1306;1411;1445	ENSP00000320758:N1411D;ENSP00000337459:N1445D	ENSP00000320758:N1411D	N	-	1	0	NOS1	116140292	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.501000	0.81600	1.914000	0.55421	0.459000	0.35465	AAC	.		0.498	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
RIMBP2	23504	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	130919339	130919339	+	Silent	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr12:130919339G>A	ENST00000261655.4	-	11	2305	c.2142C>T	c.(2140-2142)gaC>gaT	p.D714D	RIMBP2_ENST00000536002.1_Silent_p.D622D|RIMBP2_ENST00000535703.1_Silent_p.D622D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	714					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCTCTTGAAGTCTGGAGAGT	0.597																																					p.D714D		.											.	RIMBP2-142	0			c.C2142T						.						74.0	81.0	79.0					12																	130919339		2203	4300	6503	SO:0001819	synonymous_variant	23504	exon11			CTTGAAGTCTGGA	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.2142C>T	12.37:g.130919339G>A		Somatic	167	0		WXS	Illumina HiSeq	Phase_I	206	30	NM_015347	0	0	0	0	0	Q96ID2	Silent	SNP	ENST00000261655.4	37	CCDS31925.1																																																																																			.		0.597	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347	
TEP1	7011	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	20869208	20869208	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr14:20869208G>A	ENST00000262715.5	-	9	1524	c.1484C>T	c.(1483-1485)cCa>cTa	p.P495L	TEP1_ENST00000556935.1_Missense_Mutation_p.P387L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	495	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCAGGTCTCTGGCCTAGACAG	0.557																																					p.P495L		.											.	TEP1-95	0			c.C1484T						.						125.0	109.0	114.0					14																	20869208		2203	4300	6503	SO:0001583	missense	7011	exon9			GTCTCTGGCCTAG		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.1484C>T	14.37:g.20869208G>A	ENSP00000262715:p.Pro495Leu	Somatic	133	1		WXS	Illumina HiSeq	Phase_I	125	39	NM_007110	0	0	5	7	2	A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	G	31	5.089888	0.94149	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.20069	2.1;2.1	5.71	4.81	0.61882	TROVE (2);	0.000000	0.85682	D	0.000000	T	0.34600	0.0903	M	0.84948	2.725	0.80722	D	1	B;P	0.34757	0.215;0.467	B;B	0.39119	0.139;0.291	T	0.33317	-0.9873	10	0.87932	D	0	-14.7861	13.9742	0.64262	0.0753:0.0:0.9247:0.0	.	387;495	G3V5X7;Q99973	.;TEP1_HUMAN	L	495;495;387	ENSP00000262715:P495L;ENSP00000452574:P387L	ENSP00000262715:P495L	P	-	2	0	TEP1	19939048	1.000000	0.71417	0.961000	0.40146	0.876000	0.50452	5.606000	0.67641	2.701000	0.92244	0.555000	0.69702	CCA	.		0.557	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110	
HERC2	8924	hgsc.bcm.edu	37	15	28447597	28447597	+	Missense_Mutation	SNP	A	A	G	rs113634395		TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:28447597A>G	ENST00000261609.7	-	46	7484	c.7376T>C	c.(7375-7377)cTg>cCg	p.L2459P		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CACGATCGGCAGAGCGGGAAC	0.592																																					p.L2459P		.											.	HERC2-234	0			c.T7376C						.						19.0	16.0	17.0					15																	28447597		2200	4275	6475	SO:0001583	missense	8924	exon46			ATCGGCAGAGCGG	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7376T>C	15.37:g.28447597A>G	ENSP00000261609:p.Leu2459Pro	Somatic	63	0		WXS	Illumina HiSeq	Phase_I	66	11	NM_004667	0	0	15	17	2		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	5.759	0.324512	0.10900	.	.	ENSG00000128731	ENST00000261609	T	0.38887	1.11	3.99	2.87	0.33458	.	0.178477	0.36591	N	0.002516	T	0.24586	0.0596	N	0.19112	0.55	0.46458	D	0.999051	B	0.33379	0.41	B	0.30029	0.11	T	0.04976	-1.0914	10	0.40728	T	0.16	.	9.0823	0.36558	0.9121:0.0:0.0879:0.0	.	2459	O95714	HERC2_HUMAN	P	2459	ENSP00000261609:L2459P	ENSP00000261609:L2459P	L	-	2	0	HERC2	26121192	0.913000	0.31002	0.140000	0.22221	0.090000	0.18270	4.904000	0.63279	0.717000	0.32145	0.374000	0.22700	CTG	.		0.592	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
TP53BP1	7158	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	43749140	43749140	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:43749140T>A	ENST00000263801.3	-	12	1903	c.1651A>T	c.(1651-1653)Atg>Ttg	p.M551L	TP53BP1_ENST00000382044.4_Missense_Mutation_p.M556L|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.M556L|TP53BP1_ENST00000382039.3_Missense_Mutation_p.M556L	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	551					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTGGAGACATGGGTTCCGTA	0.403								Other conserved DNA damage response genes																													p.M556L		.											.	TP53BP1-294	0			c.A1666T						.						152.0	135.0	141.0					15																	43749140		2201	4298	6499	SO:0001583	missense	7158	exon12			GAGACATGGGTTC	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1651A>T	15.37:g.43749140T>A	ENSP00000263801:p.Met551Leu	Somatic	108	0		WXS	Illumina HiSeq	Phase_I	66	27	NM_001141980	0	0	13	31	18	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	T	4.082	0.013103	0.07912	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	5.04	1.11	0.20524	.	0.534882	0.20646	N	0.088301	T	0.09730	0.0239	L	0.36672	1.1	0.19775	N	0.999951	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.37361	-0.9709	10	0.10377	T	0.69	-0.7027	5.1031	0.14770	0.3274:0.0823:0.0:0.5903	.	556;551;556;556	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	L	551;556;556;556;556	ENSP00000263801:M551L;ENSP00000371475:M556L;ENSP00000371470:M556L;ENSP00000393497:M556L;ENSP00000388028:M556L	ENSP00000263801:M551L	M	-	1	0	TP53BP1	41536432	0.005000	0.15991	0.993000	0.49108	0.768000	0.43524	0.173000	0.16724	0.321000	0.23259	-0.371000	0.07208	ATG	.		0.403	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
MYO1E	4643	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	59501015	59501015	+	Silent	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:59501015G>A	ENST00000288235.4	-	14	1794	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	465	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGGCGCACACGTCATCCAGGA	0.542																																					p.D465D		.											.	MYO1E-514	0			c.C1395T						.						118.0	99.0	105.0					15																	59501015		2191	4290	6481	SO:0001819	synonymous_variant	4643	exon14			GCACACGTCATCC	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1395C>T	15.37:g.59501015G>A		Somatic	73	0		WXS	Illumina HiSeq	Phase_I	71	16	NM_004998	0	0	65	73	8	Q14778	Silent	SNP	ENST00000288235.4	37	CCDS32254.1																																																																																			.		0.542	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998	
TLN2	83660	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	63011987	63011987	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:63011987C>G	ENST00000561311.1	+	24	3129	c.2899C>G	c.(2899-2901)Cag>Gag	p.Q967E	TLN2_ENST00000306829.6_Missense_Mutation_p.Q967E			Q9Y4G6	TLN2_HUMAN	talin 2	967	Ala-rich.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TCACATCCCTCAGCTGGTCCA	0.547																																					p.Q967E		.											.	TLN2-573	0			c.C2899G						.						65.0	51.0	56.0					15																	63011987		2203	4300	6503	SO:0001583	missense	83660	exon22			ATCCCTCAGCTGG	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.2899C>G	15.37:g.63011987C>G	ENSP00000453508:p.Gln967Glu	Somatic	52	0		WXS	Illumina HiSeq	Phase_I	36	13	NM_015059	0	0	3	9	6	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050280	0.55218	.	.	ENSG00000171914	ENST00000306829	T	0.67865	-0.29	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.63153	0.2487	L	0.47716	1.5	0.80722	D	1	B	0.24882	0.113	B	0.25987	0.065	T	0.56745	-0.7928	10	0.22706	T	0.39	-16.8653	19.9103	0.97024	0.0:1.0:0.0:0.0	.	967	Q9Y4G6	TLN2_HUMAN	E	967	ENSP00000303476:Q967E	ENSP00000303476:Q967E	Q	+	1	0	TLN2	60799279	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.887000	0.63156	2.765000	0.95021	0.650000	0.86243	CAG	.		0.547	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
RASGRF1	5923	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	79264261	79264261	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:79264261G>A	ENST00000419573.3	-	27	3950	c.3676C>T	c.(3676-3678)Cga>Tga	p.R1226*	RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R1210*|RASGRF1_ENST00000394745.3_Nonsense_Mutation_p.R442*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1226	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGAATCTCTCGGATAATATGG	0.473																																					p.R1226X		.											.	RASGRF1-662	0			c.C3676T						.						268.0	228.0	242.0					15																	79264261		2196	4293	6489	SO:0001587	stop_gained	5923	exon27			TCTCTCGGATAAT	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.3676C>T	15.37:g.79264261G>A	ENSP00000405963:p.Arg1226*	Somatic	233	0		WXS	Illumina HiSeq	Phase_I	216	75	NM_002891	0	0	1	1	0	F8VPA5|H0YKF2|J3KQP9|Q16027	Nonsense_Mutation	SNP	ENST00000419573.3	37	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	42	9.264118	0.99118	.	.	ENSG00000058335	ENST00000419573;ENST00000394741;ENST00000394745	.	.	.	4.23	3.23	0.37069	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9463	0.47301	0.0:0.0:0.8013:0.1987	.	.	.	.	X	1226;1210;442	.	ENSP00000378224:R1210X	R	-	1	2	RASGRF1	77051316	1.000000	0.71417	0.999000	0.59377	0.806000	0.45545	1.206000	0.32321	2.169000	0.68431	0.561000	0.74099	CGA	.		0.473	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
KIAA1024	23251	broad.mit.edu	37	15	79748657	79748657	+	Silent	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:79748657C>T	ENST00000305428.3	+	2	243	c.168C>T	c.(166-168)ctC>ctT	p.L56L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	56						integral component of membrane (GO:0016021)		p.L56L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CAGCTTGTCTCGATCCCAATT	0.458																																					p.L56L													.	KIAA1024-183	1	Substitution - coding silent(1)	lung(1)	c.C168T						.						106.0	101.0	103.0					15																	79748657		2196	4293	6489	SO:0001819	synonymous_variant	23251	exon2			TTGTCTCGATCCC	AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.168C>T	15.37:g.79748657C>T		Somatic	144	0		WXS	Illumina HiSeq	Phase_I	124	6	NM_015206	0	0	0	0	0	A7MD43	Silent	SNP	ENST00000305428.3	37	CCDS32306.1																																																																																			.		0.458	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416718.1	NM_015206	
ROGDI	79641	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	4849743	4849743	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:4849743G>C	ENST00000322048.7	-	6	754	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	126					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						CTGGTAAGCAGGTAAATGGCT	0.622																																					p.L126V													.	ROGDI-92	0			c.C376G						.						107.0	84.0	91.0					16																	4849743		2197	4300	6497	SO:0001583	missense	79641	exon6			TAAGCAGGTAAAT	AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.376C>G	16.37:g.4849743G>C	ENSP00000322832:p.Leu126Val	Somatic	39	0		WXS	Illumina HiSeq	Phase_I	19	4	NM_024589	0	0	26	46	20	Q6IA00	Missense_Mutation	SNP	ENST00000322048.7	37	CCDS10523.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163097	0.38217	.	.	ENSG00000067836	ENST00000322048	T	0.49432	0.78	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.49064	0.1535	L	0.45581	1.43	0.54753	D	0.999982	P	0.52316	0.952	P	0.55161	0.77	T	0.37776	-0.9691	10	0.11485	T	0.65	-27.1765	10.2733	0.43495	0.0926:0.0:0.9074:0.0	.	126	Q9GZN7	ROGDI_HUMAN	V	126	ENSP00000322832:L126V	ENSP00000322832:L126V	L	-	1	2	ROGDI	4789744	1.000000	0.71417	0.998000	0.56505	0.727000	0.41649	6.591000	0.74090	2.180000	0.69256	0.561000	0.74099	CTG	.		0.622	ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251643.3	NM_024589	
MYH11	4629	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	15841744	15841744	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:15841744G>T	ENST00000300036.5	-	18	2346	c.2237C>A	c.(2236-2238)gCc>gAc	p.A746D	MYH11_ENST00000452625.2_Missense_Mutation_p.A753D|MYH11_ENST00000396324.3_Missense_Mutation_p.A753D|MYH11_ENST00000576790.2_Missense_Mutation_p.A746D	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	746	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGAATGCAGGCCTGCTTCCC	0.587			T	CBFB	AML																																p.A753D		.		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	MYH11-666	0			c.C2258A						.						89.0	84.0	86.0					16																	15841744		2197	4300	6497	SO:0001583	missense	4629	exon19			ATGCAGGCCTGCT	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2237C>A	16.37:g.15841744G>T	ENSP00000300036:p.Ala746Asp	Somatic	43	1		WXS	Illumina HiSeq	Phase_I	69	23	NM_001040114	0	0	0	0	0	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983101	0.93044	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.35	5.35	0.76521	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.88514	0.6457	M	0.90369	3.11	0.80722	D	1	D;D;P;D;D	0.76494	0.999;0.974;0.864;0.974;0.969	D;D;D;D;D	0.67103	0.949;0.916;0.916;0.916;0.949	D	0.90804	0.4696	10	0.87932	D	0	.	18.0422	0.89322	0.0:0.0:1.0:0.0	.	753;746;753;746;753	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	D	746;746;753;753;753	ENSP00000300036:A746D;ENSP00000345136:A746D;ENSP00000379616:A753D;ENSP00000407821:A753D	ENSP00000300036:A746D	A	-	2	0	MYH11	15749245	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.848000	0.99507	2.506000	0.84524	0.561000	0.74099	GCC	.		0.587	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
ZP2	7783	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	21215430	21215430	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:21215430T>A	ENST00000574002.1	-	10	1375	c.893A>T	c.(892-894)cAg>cTg	p.Q298L	ZP2_ENST00000574091.1_Missense_Mutation_p.Q298L|ZP2_ENST00000219593.4_Missense_Mutation_p.Q298L|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	298					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCATGCAGCTGGCTCACATC	0.428																																					p.Q298L		.											.	ZP2-91	0			c.A893T						.						161.0	137.0	145.0					16																	21215430		2200	4300	6500	SO:0001583	missense	7783	exon9			TGCAGCTGGCTCA	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.893A>T	16.37:g.21215430T>A	ENSP00000460971:p.Gln298Leu	Somatic	102	0		WXS	Illumina HiSeq	Phase_I	88	33	NM_003460	0	0	0	0	0	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	T	13.43	2.233434	0.39498	.	.	ENSG00000103310	ENST00000219593	T	0.78816	-1.21	6.08	3.74	0.42951	.	0.574315	0.17910	N	0.157889	D	0.84938	0.5583	M	0.73962	2.25	0.09310	N	1	D;B;B	0.89917	1.0;0.223;0.223	D;B;B	0.91635	0.999;0.143;0.053	T	0.73563	-0.3943	10	0.28530	T	0.3	-5.929	9.6718	0.40017	0.1165:0.0:0.1209:0.7626	.	298;298;298	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	L	298	ENSP00000219593:Q298L	ENSP00000219593:Q298L	Q	-	2	0	ZP2	21122931	0.975000	0.34042	0.255000	0.24374	0.042000	0.13812	2.912000	0.48782	2.330000	0.79161	0.533000	0.62120	CAG	.		0.428	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2		
FOXC2	2303	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	86601010	86601010	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:86601010T>G	ENST00000320354.4	+	1	154	c.69T>G	c.(67-69)aaT>aaG	p.N23K	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	23					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|embryonic viscerocranium morphogenesis (GO:0048703)|glomerular endothelium development (GO:0072011)|glomerular mesangial cell development (GO:0072144)|glomerular visceral epithelial cell differentiation (GO:0072112)|heart development (GO:0007507)|insulin receptor signaling pathway (GO:0008286)|lymphangiogenesis (GO:0001946)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|paraxial mesodermal cell fate commitment (GO:0048343)|patterning of blood vessels (GO:0001569)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular wound healing (GO:0035470)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|response to hormone (GO:0009725)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						GCGAGCAGAATTACTACCGGG	0.701									Late-onset Hereditary Lymphedema																												p.N23K		.											.	FOXC2-226	0			c.T69G						.						34.0	38.0	37.0					16																	86601010		2196	4296	6492	SO:0001583	missense	2303	exon1	Familial Cancer Database	Hereditary Lymphedema type II, Meige Lymphedema	GCAGAATTACTAC	Y08223	CCDS10958.1	16q24.1	2008-04-10			ENSG00000176692	ENSG00000176692		"""Forkhead boxes"""	3801	protein-coding gene	gene with protein product		602402		FKHL14		9169153, 8674414	Standard	NM_005251		Approved	MFH-1	uc002fjq.3	Q99958	OTTHUMG00000137652	ENST00000320354.4:c.69T>G	16.37:g.86601010T>G	ENSP00000326371:p.Asn23Lys	Somatic	93	0		WXS	Illumina HiSeq	Phase_I	85	32	NM_005251	0	0	2	2	0	C6KMR9|Q14DA6	Missense_Mutation	SNP	ENST00000320354.4	37	CCDS10958.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.618182	0.66787	.	.	ENSG00000176692	ENST00000320354	D	0.94862	-3.54	3.49	-4.32	0.03688	.	0.351583	0.22692	U	0.056809	D	0.91768	0.7396	L	0.46157	1.445	0.37017	D	0.896014	P	0.47409	0.895	P	0.47573	0.55	D	0.88376	0.2998	10	0.39692	T	0.17	.	14.3409	0.66624	0.0:0.8175:0.0:0.1825	.	23	Q99958	FOXC2_HUMAN	K	23	ENSP00000326371:N23K	ENSP00000326371:N23K	N	+	3	2	FOXC2	85158511	0.974000	0.33945	0.948000	0.38648	0.973000	0.67179	0.371000	0.20450	-1.237000	0.02539	-0.689000	0.03729	AAT	.		0.701	FOXC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269104.2	NM_005251	
TSR1	55720	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	2232753	2232753	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:2232753A>T	ENST00000301364.5	-	11	2866	c.1787T>A	c.(1786-1788)aTg>aAg	p.M596K	SNORD91B_ENST00000391250.1_RNA|SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	596					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						CCTCACCACCATATTCAATAC	0.438																																					p.M596K		.											.	TSR1-91	0			c.T1787A						.						89.0	80.0	83.0					17																	2232753		2203	4300	6503	SO:0001583	missense	55720	exon11			ACCACCATATTCA	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1787T>A	17.37:g.2232753A>T	ENSP00000301364:p.Met596Lys	Somatic	68	0		WXS	Illumina HiSeq	Phase_I	75	26	NM_018128	0	0	18	41	23	Q8WUY5|Q9NVT0|Q9P2E6	Missense_Mutation	SNP	ENST00000301364.5	37	CCDS32525.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337499	0.60963	.	.	ENSG00000167721	ENST00000301364	T	0.18016	2.24	5.34	5.34	0.76211	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.225116	0.52532	D	0.000063	T	0.23649	0.0572	M	0.69185	2.1	0.53688	D	0.999979	B	0.25667	0.131	B	0.29440	0.102	T	0.02533	-1.1145	10	0.54805	T	0.06	-17.0729	14.4964	0.67691	1.0:0.0:0.0:0.0	.	596	Q2NL82	TSR1_HUMAN	K	596	ENSP00000301364:M596K	ENSP00000301364:M596K	M	-	2	0	TSR1	2179503	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.017000	0.93651	2.014000	0.59158	0.459000	0.35465	ATG	.		0.438	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128	
PITPNM3	83394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	6375990	6375990	+	Silent	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:6375990C>T	ENST00000262483.8	-	11	1503	c.1416G>A	c.(1414-1416)caG>caA	p.Q472Q	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.Q436Q	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	472	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGAGGAGGGACTGCCCATCGC	0.652																																					p.Q472Q		.											.	PITPNM3-228	0			c.G1416A						.						57.0	57.0	57.0					17																	6375990		2202	4300	6502	SO:0001819	synonymous_variant	83394	exon11			GAGGGACTGCCCA	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1416G>A	17.37:g.6375990C>T		Somatic	33	0		WXS	Illumina HiSeq	Phase_I	28	15	NM_031220	0	0	0	0	0	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																			.		0.652	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.	0			c.G152A						.						274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	201158	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr	Somatic	362	48		WXS	Illumina HiSeq		358	56	NM_145301	0	0	0	64	64	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT	.		0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301	
KRTAP1-3	81850	hgsc.bcm.edu	37	17	39190835	39190835	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:39190835G>C	ENST00000344363.5	-	1	272	c.239C>G	c.(238-240)tCc>tGc	p.S80C		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	90			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGTTCCGCAGGAGCTGGTCTG	0.617																																					p.S80C		.											.	.	0			c.C239G						.						31.0	35.0	34.0					17																	39190835		1998	4175	6173	SO:0001583	missense	81850	exon1			CCGCAGGAGCTGG	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.239C>G	17.37:g.39190835G>C	ENSP00000344420:p.Ser80Cys	Somatic	97	1		WXS	Illumina HiSeq	Phase_I	94	5	NM_030966	0	0	0	0	0	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	G	1.645	-0.515394	0.04200	.	.	ENSG00000221880	ENST00000344363	T	0.35973	1.28	3.45	2.46	0.29980	.	.	.	.	.	T	0.14614	0.0353	.	.	.	0.24468	N	0.994406	B	0.02656	0.0	B	0.01281	0.0	T	0.25572	-1.0128	8	0.02654	T	1	.	8.8906	0.35432	0.0:0.7644:0.2356:0.0	.	90	Q8IUG1	KRA13_HUMAN	C	80	ENSP00000344420:S80C	ENSP00000344420:S80C	S	-	2	0	KRTAP1-3	36444361	0.984000	0.35163	0.379000	0.26080	0.250000	0.25880	-0.494000	0.06451	1.020000	0.39573	-0.147000	0.13772	TCC	.		0.617	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1		
KRTAP1-3	81850	hgsc.bcm.edu	37	17	39190845	39190845	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:39190845G>C	ENST00000344363.5	-	1	262	c.229C>G	c.(229-231)Cag>Gag	p.Q77E		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	87			Missing (in allele KAP1.9). {ECO:0000269|PubMed:12228244}.			keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGCTGGTCTGGCAGCAGCTT	0.612																																					p.Q77E		.											.	.	0			c.C229G						.						32.0	36.0	35.0					17																	39190845		2006	4177	6183	SO:0001583	missense	81850	exon1			TGGTCTGGCAGCA	AJ406927	CCDS42323.1	17q21.2	2013-06-20			ENSG00000221880	ENSG00000221880		"""Keratin associated proteins"""	16771	protein-coding gene	gene with protein product		608820				11279113	Standard	NM_030966		Approved	KAP1.3	uc002hvv.3	Q8IUG1	OTTHUMG00000133583	ENST00000344363.5:c.229C>G	17.37:g.39190845G>C	ENSP00000344420:p.Gln77Glu	Somatic	101	1		WXS	Illumina HiSeq	Phase_I	102	6	NM_030966	0	0	0	0	0	Q07628|Q8IUG0|Q9BYS2	Missense_Mutation	SNP	ENST00000344363.5	37	CCDS42323.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601629	0.46423	.	.	ENSG00000221880	ENST00000344363	T	0.31247	1.5	3.73	-0.96	0.10340	.	.	.	.	.	T	0.13030	0.0316	.	.	.	0.19300	N	0.99997	B	0.33000	0.393	B	0.36959	0.237	T	0.28170	-1.0052	8	0.05525	T	0.97	.	6.3215	0.21221	0.0:0.3347:0.3233:0.342	.	87	Q8IUG1	KRA13_HUMAN	E	77	ENSP00000344420:Q77E	ENSP00000344420:Q77E	Q	-	1	0	KRTAP1-3	36444371	1.000000	0.71417	0.018000	0.16275	0.954000	0.61252	0.703000	0.25646	-0.108000	0.12066	0.655000	0.94253	CAG	.		0.612	KRTAP1-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257687.1		
ST6GALNAC2	10610	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	74570497	74570497	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr17:74570497C>T	ENST00000225276.5	-	3	630	c.311G>A	c.(310-312)cGc>cAc	p.R104H	ST6GALNAC2_ENST00000586520.1_5'UTR	NM_006456.2	NP_006447.2	Q9UJ37	SIA7B_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	104					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTGGCTCAGGCGGTCCCAGAG	0.637																																					p.R104H		.											.	ST6GALNAC2-90	0			c.G311A						.						38.0	35.0	36.0					17																	74570497		2203	4300	6503	SO:0001583	missense	10610	exon3			CTCAGGCGGTCCC	U14550	CCDS11747.1	17q25.1	2013-03-01	2003-12-05	2005-02-07	ENSG00000070731	ENSG00000070731	2.4.99.7	"""Sialyltransferases"""	10867	protein-coding gene	gene with protein product		610137	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"", ""sialyltransferase-like 1"""	SIAT7, SIAT7B, SIATL1		11984005	Standard	NM_006456		Approved	ST6GalNAII, STHM	uc002jsg.4	Q9UJ37	OTTHUMG00000180301	ENST00000225276.5:c.311G>A	17.37:g.74570497C>T	ENSP00000225276:p.Arg104His	Somatic	40	0		WXS	Illumina HiSeq	Phase_I	44	16	NM_006456	0	1	92	177	84	Q12971	Missense_Mutation	SNP	ENST00000225276.5	37	CCDS11747.1	.	.	.	.	.	.	.	.	.	.	c	14.90	2.674158	0.47781	.	.	ENSG00000070731	ENST00000225276	T	0.32272	1.46	4.47	-0.561	0.11785	.	0.749066	0.12928	N	0.427572	T	0.24392	0.0591	L	0.55017	1.72	0.18873	N	0.999984	B	0.29301	0.241	B	0.25884	0.064	T	0.19353	-1.0308	10	0.56958	D	0.05	-1.9719	6.7032	0.23236	0.0:0.3692:0.0:0.6308	.	104	Q9UJ37	SIA7B_HUMAN	H	104	ENSP00000225276:R104H	ENSP00000225276:R104H	R	-	2	0	ST6GALNAC2	72082092	0.001000	0.12720	0.960000	0.40013	0.859000	0.49053	0.361000	0.20267	0.093000	0.17368	-0.258000	0.10820	CGC	.		0.637	ST6GALNAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450650.1	NM_006456	
FUT3	2525	ucsc.edu	37	19	5844830	5844830	+	Silent	SNP	G	G	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:5844830G>T	ENST00000303225.6	-	3	655	c.21C>A	c.(19-21)gcC>gcA	p.A7A	FUT3_ENST00000593144.1_5'Flank|AC024592.9_ENST00000589276.1_RNA|FUT3_ENST00000589918.1_Silent_p.A7A|FUT3_ENST00000589620.1_Silent_p.A7A|FUT3_ENST00000458379.2_Silent_p.A7A	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	7					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ATTGTGGCTTGGCTGCACCCA	0.577																																					p.A7A	Esophageal Squamous(82;745 1728 24593 44831)												.	FUT3-90	0			c.C21A						.						25.0	24.0	24.0					19																	5844830		2202	4300	6502	SO:0001819	synonymous_variant	2525	exon3			TGGCTTGGCTGCA		CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.21C>A	19.37:g.5844830G>T		Somatic	33	4		WXS	Illumina HiSeq		47	8	NM_001097640	0	0	0	0	0	B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Silent	SNP	ENST00000303225.6	37	CCDS12153.1																																																																																			.		0.577	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452204.1	NM_000149	
TRMT1	55621	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	13226494	13226494	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:13226494T>A	ENST00000592062.1	-	5	969	c.399A>T	c.(397-399)gaA>gaT	p.E133D	TRMT1_ENST00000221504.8_Missense_Mutation_p.E133D|TRMT1_ENST00000437766.1_Missense_Mutation_p.E133D|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000357720.4_Missense_Mutation_p.E133D|TRMT1_ENST00000592892.1_5'UTR			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	133	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		AGGCCAGGTTTTCACTCTCTT	0.572																																					p.E133D		.											.	TRMT1-92	0			c.A399T						.						166.0	168.0	168.0					19																	13226494		2203	4300	6503	SO:0001583	missense	55621	exon4			CAGGTTTTCACTC	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.399A>T	19.37:g.13226494T>A	ENSP00000466967:p.Glu133Asp	Somatic	280	0		WXS	Illumina HiSeq	Phase_I	299	114	NM_001136035	0	0	18	32	14	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	T	9.755	1.168481	0.21621	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	3.89	2.82	0.32997	.	0.227351	0.35677	N	0.003045	T	0.31979	0.0814	N	0.19112	0.55	0.36296	D	0.856722	B;B	0.09022	0.001;0.002	B;B	0.08055	0.002;0.003	T	0.18650	-1.0330	9	0.17369	T	0.5	-2.7274	8.7051	0.34349	0.0:0.0:0.1926:0.8074	.	133;133	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	D	133	.	ENSP00000221504:E133D	E	-	3	2	TRMT1	13087494	0.311000	0.24536	0.324000	0.25361	0.593000	0.36681	1.442000	0.35046	0.797000	0.33971	0.460000	0.39030	GAA	.		0.572	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722	
SIN3B	23309	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	16964967	16964967	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:16964967T>C	ENST00000248054.5	+	8	974	c.953T>C	c.(952-954)cTg>cCg	p.L318P	SIN3B_ENST00000596802.1_Missense_Mutation_p.L318P|SIN3B_ENST00000379803.1_Missense_Mutation_p.L318P					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGCCGGGTGCTGAAGAGCCAG	0.597																																					p.L318P		.											.	SIN3B-228	0			c.T953C						.						56.0	53.0	54.0					19																	16964967		2203	4300	6503	SO:0001583	missense	23309	exon8			GGGTGCTGAAGAG	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.953T>C	19.37:g.16964967T>C	ENSP00000248054:p.Leu318Pro	Somatic	64	0		WXS	Illumina HiSeq	Phase_I	65	28	NM_015260	0	0	6	14	8		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	T	21.4	4.138166	0.77775	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.63580	-0.05;0.13	5.19	5.19	0.71726	.	0.064314	0.64402	D	0.000004	D	0.83275	0.5219	M	0.92923	3.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.987;0.988	D	0.87560	0.2471	10	0.87932	D	0	-38.9141	14.2256	0.65858	0.0:0.0:0.0:1.0	.	318;318;318	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	P	318	ENSP00000369131:L318P;ENSP00000248054:L318P	ENSP00000248054:L318P	L	+	2	0	SIN3B	16825967	1.000000	0.71417	0.993000	0.49108	0.870000	0.49936	7.837000	0.86796	1.958000	0.56883	0.459000	0.35465	CTG	.		0.597	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000462846.1	NM_015260	
LSR	51599	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	35757260	35757260	+	Splice_Site	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:35757260A>G	ENST00000361790.3	+	6	1081		c.e6-1		LSR_ENST00000347609.4_Splice_Site|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000602122.1_Splice_Site|LSR_ENST00000427250.1_Splice_Site|USF2_ENST00000594064.1_5'Flank|LSR_ENST00000354900.3_Splice_Site|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000360798.3_Splice_Site|AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000379134.3_5'Flank|USF2_ENST00000595068.1_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor						embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTGTCCTCACAGTGTATGCCG	0.627																																					.		.											.	LSR-90	0			c.866-2A>G						.						76.0	78.0	77.0					19																	35757260		2203	4300	6503	SO:0001630	splice_region_variant	51599	exon5			CCTCACAGTGTAT	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.923-1A>G	19.37:g.35757260A>G		Somatic	175	0		WXS	Illumina HiSeq	Phase_I	140	39	NM_015925	0	0	0	1	1	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Splice_Site	SNP	ENST00000361790.3	37	CCDS12450.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.029984	0.35797	.	.	ENSG00000105699	ENST00000361790;ENST00000354900;ENST00000360798;ENST00000347609;ENST00000427250	.	.	.	3.99	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7508	0.28896	0.8124:0.0:0.0:0.1876	.	.	.	.	.	-1	.	.	.	+	.	.	LSR	40449100	1.000000	0.71417	0.489000	0.27452	0.523000	0.34469	7.126000	0.77201	0.540000	0.28808	0.379000	0.24179	.	.		0.627	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	Intron
PROSER3	148137	broad.mit.edu	37	19	36253153	36253153	+	Splice_Site	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:36253153G>A	ENST00000544099.1	+	5	502		c.e5-1		C19orf55_ENST00000536950.1_Intron|C19orf55_ENST00000421853.2_Splice_Site|C19orf55_ENST00000396908.4_Splice_Site|C19orf55_ENST00000537459.1_Splice_Site			Q2NL68	PRSR3_HUMAN												cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGGCTTCTCAGCAGGAGCCAA	0.552																																					.													.	C19orf55-23	0			c.440-1G>A						.						51.0	56.0	55.0					19																	36253153		1968	4154	6122	SO:0001630	splice_region_variant	148137	exon5			TTCTCAGCAGGAG																												ENST00000544099.1:c.440-1G>A	19.37:g.36253153G>A		Somatic	23	0		WXS	Illumina HiSeq	Phase_I	21	4	NM_001039887	0	0	0	0	0	Q8NDI3|Q8WWC8|Q96NL4	Splice_Site	SNP	ENST00000544099.1	37		.	.	.	.	.	.	.	.	.	.	G	12.11	1.840477	0.32513	.	.	ENSG00000167595	ENST00000396908;ENST00000537459	.	.	.	4.12	3.07	0.35406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.2689	0.26246	0.1244:0.0:0.8756:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C19orf55	40944993	0.991000	0.36638	0.987000	0.45799	0.062000	0.15995	0.609000	0.24238	1.272000	0.44329	0.650000	0.86243	.	.		0.552	C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2		Intron
ZSCAN4	201516	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58187881	58187881	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:58187881C>G	ENST00000318203.5	+	3	1065	c.368C>G	c.(367-369)aCt>aGt	p.T123S		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	123	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGACCTGACTGATGACAGC	0.418																																					p.T123S		.											.	ZSCAN4-91	0			c.C368G						.						83.0	81.0	81.0					19																	58187881		2203	4300	6503	SO:0001583	missense	201516	exon3			ACCTGACTGATGA	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.368C>G	19.37:g.58187881C>G	ENSP00000321963:p.Thr123Ser	Somatic	73	0		WXS	Illumina HiSeq	Phase_I	73	26	NM_152677	0	0	0	0	0	Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114797	0.20795	.	.	ENSG00000180532	ENST00000318203	T	0.04317	3.65	4.42	-8.83	0.00806	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (1);	1.418230	0.04476	N	0.376945	T	0.04363	0.0120	L	0.53671	1.685	0.09310	N	1	B	0.14805	0.011	B	0.22386	0.039	T	0.40021	-0.9585	10	0.11794	T	0.64	0.036	5.2622	0.15580	0.3993:0.1301:0.3976:0.073	.	123	Q8NAM6	ZSCA4_HUMAN	S	123	ENSP00000321963:T123S	ENSP00000321963:T123S	T	+	2	0	ZSCAN4	62879693	0.006000	0.16342	0.000000	0.03702	0.016000	0.09150	-0.007000	0.12810	-2.018000	0.00943	-0.140000	0.14226	ACT	.		0.418	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677	
KHK	3795	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	27317347	27317347	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:27317347T>A	ENST00000260599.6	+	3	725	c.212T>A	c.(211-213)tTt>tAt	p.F71Y	KHK_ENST00000260598.5_Intron|KHK_ENST00000490823.1_3'UTR	NM_000221.2	NP_000212.1	P50053	KHK_HUMAN	ketohexokinase (fructokinase)	71					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose catabolic process (GO:0006001)|regulation of glycogen metabolic process (GO:0070873)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ketohexokinase activity (GO:0004454)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAGCAGTTTTGTCCTGGAT	0.602																																					p.F71Y		.											.	KHK-115	0			c.T212A						.						80.0	80.0	80.0					2																	27317347		2203	4300	6503	SO:0001583	missense	3795	exon3			GCAGTTTTGTCCT		CCDS1734.1, CCDS1735.1	2p23.3-p23.2	2008-02-05			ENSG00000138030	ENSG00000138030	2.7.1.3		6315	protein-coding gene	gene with protein product		614058				7833921	Standard	NM_000221		Approved		uc002rim.2	P50053	OTTHUMG00000097077	ENST00000260599.6:c.212T>A	2.37:g.27317347T>A	ENSP00000260599:p.Phe71Tyr	Somatic	152	1		WXS	Illumina HiSeq	Phase_I	125	35	NM_000221	0	0	7	14	7	Q6IBK2|Q99532|Q9BRJ3|Q9UMN1	Missense_Mutation	SNP	ENST00000260599.6	37	CCDS1734.1	.	.	.	.	.	.	.	.	.	.	T	28.5	4.922187	0.92319	.	.	ENSG00000138030	ENST00000260599;ENST00000429697	T;T	0.76578	-1.03;-1.03	5.63	5.63	0.86233	Carbohydrate/purine kinase (1);	0.047856	0.85682	D	0.000000	D	0.85779	0.5776	M	0.77616	2.38	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	T	0.83297	-0.0030	10	0.08837	T	0.75	-12.7927	13.7817	0.63087	0.0:0.0:0.0:1.0	.	71;71	Q6IBK2;P50053	.;KHK_HUMAN	Y	71	ENSP00000260599:F71Y;ENSP00000404741:F71Y	ENSP00000260599:F71Y	F	+	2	0	KHK	27170851	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.258000	0.72487	2.140000	0.66376	0.459000	0.35465	TTT	.		0.602	KHK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214196.1		
USP34	9736	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	61450209	61450209	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:61450209G>C	ENST00000398571.2	-	64	7811	c.7735C>G	c.(7735-7737)Cga>Gga	p.R2579G	USP34_ENST00000472689.1_5'Flank	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2579					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTGCAAGTCGATTATTGTAT	0.383																																					p.R2579G		.											.	USP34-579	0			c.C7735G						.						76.0	66.0	69.0					2																	61450209		1841	4093	5934	SO:0001583	missense	9736	exon64			CAAGTCGATTATT	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.7735C>G	2.37:g.61450209G>C	ENSP00000381577:p.Arg2579Gly	Somatic	46	0		WXS	Illumina HiSeq	Phase_I	38	10	NM_014709	0	0	1	3	2	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.54|16.54	3.151332|3.151332	0.57151|0.57151	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.64803|.	-0.12|.	6.06|6.06	5.17|5.17	0.71159|0.71159	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67702|0.67702	0.2921|0.2921	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D|.	0.60160|.	0.987|.	D|.	0.67725|.	0.953|.	T|T	0.65598|0.65598	-0.6129|-0.6129	10|5	0.72032|.	D|.	0.01|.	.|.	15.4863|15.4863	0.75571|0.75571	0.0:0.0:0.6762:0.3238|0.0:0.0:0.6762:0.3238	.|.	2579|.	Q70CQ2|.	UBP34_HUMAN|.	G|W	2427;2427;2579|338	ENSP00000381577:R2579G|.	ENSP00000263989:R2427G|.	R|S	-|-	1|2	2|0	USP34|USP34	61303713|61303713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	5.187000|5.187000	0.65087|0.65087	1.558000|1.558000	0.49541|0.49541	0.650000|0.650000	0.86243|0.86243	CGA|TCG	.		0.383	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
ZNF638	27332	broad.mit.edu	37	2	71576384	71576384	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:71576384T>G	ENST00000409544.1	+	2	930	c.300T>G	c.(298-300)caT>caG	p.H100Q	ZNF638_ENST00000355812.3_Missense_Mutation_p.H100Q|ZNF638_ENST00000377802.2_Missense_Mutation_p.H100Q|ZNF638_ENST00000264447.4_Missense_Mutation_p.H100Q|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	100					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GGAAGCCTCATGGTAGCCGGT	0.448																																					p.H100Q													.	ZNF638-94	0			c.T300G						.						92.0	93.0	92.0					2																	71576384		2203	4300	6503	SO:0001583	missense	27332	exon2			GCCTCATGGTAGC	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.300T>G	2.37:g.71576384T>G	ENSP00000386433:p.His100Gln	Somatic	102	0		WXS	Illumina HiSeq	Phase_I	90	3	NM_014497	0	0	18	18	0	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	T	13.07	2.127020	0.37533	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544;ENST00000437658	T;T;T;T;T;T;T	0.72282	-0.05;-0.64;0.53;-0.04;1.53;1.53;0.98	5.48	-1.16	0.09678	.	0.231642	0.38548	N	0.001644	T	0.64929	0.2643	N	0.19112	0.55	0.31517	N	0.662829	D;D;D;D;D	0.76494	0.991;0.984;0.999;0.998;0.991	D;D;D;D;P	0.80764	0.946;0.974;0.994;0.986;0.889	T	0.64097	-0.6487	10	0.59425	D	0.04	-5.8407	3.6183	0.08086	0.2769:0.3207:0.0:0.4023	.	206;100;100;100;100	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	Q	100;206;100;100;100;100;100	ENSP00000386669:H100Q;ENSP00000438189:H206Q;ENSP00000348066:H100Q;ENSP00000367033:H100Q;ENSP00000264447:H100Q;ENSP00000386433:H100Q;ENSP00000388164:H100Q	ENSP00000264447:H100Q	H	+	3	2	ZNF638	71429892	0.728000	0.28080	0.996000	0.52242	0.823000	0.46562	0.015000	0.13355	-0.192000	0.10432	-0.376000	0.06991	CAT	.		0.448	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497	
GCFC2	6936	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	75921529	75921529	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:75921529G>C	ENST00000321027.3	-	6	991	c.858C>G	c.(856-858)caC>caG	p.H286Q	GCFC2_ENST00000409857.3_Missense_Mutation_p.H248Q|GCFC2_ENST00000541687.1_Missense_Mutation_p.P248A	NM_001201334.1|NM_003203.4	NP_001188263.1|NP_003194.3	P16383	GCFC2_HUMAN	GC-rich sequence DNA-binding factor 2	286					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	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 negative regulation of transcription (GO:0001078)										GGTGTGAGCGGTGAGTTTCCT	0.294																																					p.H286Q		.											.	.	0			c.C858G						.						148.0	150.0	149.0					2																	75921529		2203	4300	6503	SO:0001583	missense	6936	exon6			TGAGCGGTGAGTT	AB026911	CCDS1961.1, CCDS62943.1	2p12	2014-01-17	2011-11-24	2011-11-24	ENSG00000005436	ENSG00000005436			1317	protein-coding gene	gene with protein product	"""GC binding factor"""	189901	"""transcription factor 9 (binds GC-rich sequences)"", ""chromosome 2 open reading frame 3"""	TCF9, C2orf3		1370479, 2556218, 17309879, 24304693	Standard	NM_003203		Approved	DNABF, GCF	uc002sno.3	P16383	OTTHUMG00000129989	ENST00000321027.3:c.858C>G	2.37:g.75921529G>C	ENSP00000318690:p.His286Gln	Somatic	125	0		WXS	Illumina HiSeq	Phase_I	98	40	NM_003203	0	0	3	6	3	A4UHQ8|O95032|Q53TY0|Q6P2F2	Missense_Mutation	SNP	ENST00000321027.3	37	CCDS1961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.83|17.83	3.486559|3.486559	0.63962|0.63962	.|.	.|.	ENSG00000005436|ENSG00000005436	ENST00000321027;ENST00000409857|ENST00000541687	T;T|T	0.19105|0.39229	2.17;2.28|1.09	5.29|5.29	0.803|0.803	0.18691|0.18691	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41282|0.41282	0.1152|0.1152	M|M	0.80982|0.80982	2.52|2.52	0.20926|0.20926	N|N	0.999823|0.999823	D|.	0.64830|.	0.994|.	P|.	0.59288|.	0.855|.	T|T	0.43877|0.43877	-0.9364|-0.9364	10|7	0.42905|0.02654	T|T	0.14|1	-15.9173|-15.9173	7.4758|7.4758	0.27376|0.27376	0.5377:0.0:0.4623:0.0|0.5377:0.0:0.4623:0.0	.|.	286|.	P16383|.	GCF_HUMAN|.	Q|A	286;248|248	ENSP00000318690:H286Q;ENSP00000386552:H248Q|ENSP00000437767:P248A	ENSP00000318690:H286Q|ENSP00000437767:P248A	H|P	-|-	3|1	2|0	C2orf3|C2orf3	75775037|75775037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.944000|0.944000	0.59088|0.59088	1.338000|1.338000	0.33873|0.33873	0.152000|0.152000	0.19188|0.19188	-0.140000|-0.140000	0.14226|0.14226	CAC|CCG	.		0.294	GCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252255.2	NM_003203	
KIAA1211L	343990	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	99411105	99411105	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:99411105G>C	ENST00000397899.2	-	10	3110	c.2779C>G	c.(2779-2781)Ctg>Gtg	p.L927V		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	927																	AGCTGATGCAGTTCCTTCTCC	0.478																																					p.L927V		.											.	.	0			c.C2779G						.						109.0	107.0	108.0					2																	99411105		1996	4184	6180	SO:0001583	missense	343990	exon10			GATGCAGTTCCTT	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.2779C>G	2.37:g.99411105G>C	ENSP00000380996:p.Leu927Val	Somatic	125	0		WXS	Illumina HiSeq	Phase_I	144	60	NM_207362	0	0	5	7	2		Missense_Mutation	SNP	ENST00000397899.2	37	CCDS42720.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.057396	0.36277	.	.	ENSG00000196872	ENST00000397899	T	0.46819	0.86	5.27	0.764	0.18465	.	.	.	.	.	T	0.55449	0.1921	L	0.59436	1.845	0.24768	N	0.992884	D	0.76494	0.999	D	0.80764	0.994	T	0.49532	-0.8930	9	0.08599	T	0.76	-7.2777	8.2997	0.32006	0.3464:0.0:0.6536:0.0	.	927	Q6NV74	CB055_HUMAN	V	927	ENSP00000380996:L927V	ENSP00000380996:L927V	L	-	1	2	C2orf55	98777537	0.018000	0.18449	0.911000	0.35937	0.969000	0.65631	-0.303000	0.08210	-0.047000	0.13423	-0.255000	0.11280	CTG	.		0.478	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329933.1	NM_207362	
ARHGAP15	55843	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	143986166	143986166	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:143986166T>C	ENST00000295095.6	+	5	480	c.313T>C	c.(313-315)Tcc>Ccc	p.S105P	ARHGAP15_ENST00000409869.1_Missense_Mutation_p.S105P	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	105	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CTGGTCTACTTCCTGGATTGT	0.318																																					p.S105P		.											.	ARHGAP15-653	0			c.T313C						.						88.0	94.0	92.0					2																	143986166		2203	4299	6502	SO:0001583	missense	55843	exon5			TCTACTTCCTGGA	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.313T>C	2.37:g.143986166T>C	ENSP00000295095:p.Ser105Pro	Somatic	117	1		WXS	Illumina HiSeq	Phase_I	90	25	NM_018460	0	0	7	7	0	Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Missense_Mutation	SNP	ENST00000295095.6	37	CCDS2184.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937046	0.73557	.	.	ENSG00000075884	ENST00000409869;ENST00000295095	T;T	0.79454	-0.94;-1.27	5.6	4.43	0.53597	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.260794	0.38164	N	0.001794	D	0.85427	0.5694	M	0.81682	2.555	0.42157	D	0.991583	P;P	0.42203	0.773;0.758	B;P	0.55667	0.399;0.781	D	0.86101	0.1556	10	0.87932	D	0	.	10.8511	0.46771	0.1403:0.0:0.0:0.8597	.	105;105	B4E0R3;Q53QZ3	.;RHG15_HUMAN	P	105	ENSP00000386560:S105P;ENSP00000295095:S105P	ENSP00000295095:S105P	S	+	1	0	ARHGAP15	143702636	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.362000	0.52314	0.931000	0.37242	0.528000	0.53228	TCC	.		0.318	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	
XIRP2	129446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	168103542	168103542	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:168103542T>A	ENST00000409195.1	+	9	5729	c.5640T>A	c.(5638-5640)caT>caA	p.H1880Q	XIRP2_ENST00000295237.9_Missense_Mutation_p.H1880Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H1658Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1705					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						AATCAAGCCATCGATGGAAAG	0.383																																					p.H1880Q		.											.	XIRP2-104	0			c.T5640A						.						83.0	75.0	77.0					2																	168103542		1885	4124	6009	SO:0001583	missense	129446	exon9			AAGCCATCGATGG	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.5640T>A	2.37:g.168103542T>A	ENSP00000386840:p.His1880Gln	Somatic	73	0		WXS	Illumina HiSeq	Phase_I	72	18	NM_152381	0	0	0	0	0	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	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.991182	0.00439	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02280	4.36;4.36;4.36	5.46	-10.9	0.00192	.	1.270260	0.04947	N	0.459528	T	0.01254	0.0041	L	0.27053	0.805	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.45279	-0.9272	10	0.20519	T	0.43	4.4394	1.0633	0.01605	0.3314:0.095:0.2197:0.3539	.	1705;1705;1658	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Q	1880;1880;1658	ENSP00000386840:H1880Q;ENSP00000295237:H1880Q;ENSP00000387255:H1658Q	ENSP00000295237:H1880Q	H	+	3	2	XIRP2	167811788	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.516000	0.00222	-2.709000	0.00395	-1.577000	0.00868	CAT	.		0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
SPEG	10290	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	220309733	220309733	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:220309733C>G	ENST00000312358.7	+	3	797	c.665C>G	c.(664-666)cCa>cGa	p.P222R	SPEG_ENST00000396698.1_Missense_Mutation_p.P118R|SPEG_ENST00000396695.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	222					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCCGGGCCACGGCACCTG	0.716																																					p.P222R		.											.	SPEG-383	0			c.C665G						.						10.0	14.0	13.0					2																	220309733		1928	4078	6006	SO:0001583	missense	10290	exon3			CCGGGCCACGGCA	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.665C>G	2.37:g.220309733C>G	ENSP00000311684:p.Pro222Arg	Somatic	16	0		WXS	Illumina HiSeq	Phase_I	22	9	NM_005876	0	0	0	0	0	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587755	0.46110	.	.	ENSG00000072195	ENST00000312358;ENST00000265327;ENST00000396698	T;T	0.69175	-0.38;-0.11	4.86	4.86	0.63082	.	0.000000	0.36932	U	0.002335	T	0.61739	0.2371	N	0.14661	0.345	0.80722	D	1	D	0.59357	0.985	P	0.58077	0.832	T	0.61058	-0.7139	10	0.31617	T	0.26	.	11.9491	0.52944	0.0:0.9075:0.0:0.0925	.	222	Q15772	SPEG_HUMAN	R	222;222;118	ENSP00000311684:P222R;ENSP00000379926:P118R	ENSP00000265327:P222R	P	+	2	0	SPEG	220017977	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.189000	0.42621	2.227000	0.72691	0.442000	0.29010	CCA	.		0.716	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
MRPL44	65080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	224824513	224824513	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:224824513A>G	ENST00000258383.3	+	2	511	c.442A>G	c.(442-444)Atg>Gtg	p.M148V		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	148	RNase III.				mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTACCCAGACATGCCCACTGA	0.428																																					p.M148V		.											.	MRPL44-90	0			c.A442G						.						76.0	80.0	79.0					2																	224824513		2203	4300	6503	SO:0001583	missense	65080	exon2			CCAGACATGCCCA	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.442A>G	2.37:g.224824513A>G	ENSP00000258383:p.Met148Val	Somatic	114	0		WXS	Illumina HiSeq	Phase_I	106	47	NM_022915	0	0	50	81	31	Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	A	3.222	-0.159303	0.06544	.	.	ENSG00000135900	ENST00000258383	T	0.39997	1.05	5.42	-3.5	0.04710	Ribonuclease III (3);	0.216533	0.40222	N	0.001151	T	0.15046	0.0363	N	0.04880	-0.145	0.21020	N	0.9998	B	0.02656	0.0	B	0.06405	0.002	T	0.07539	-1.0767	10	0.38643	T	0.18	-2.8434	4.3393	0.11101	0.5634:0.2199:0.0:0.2166	.	148	Q9H9J2	RM44_HUMAN	V	148	ENSP00000258383:M148V	ENSP00000258383:M148V	M	+	1	0	MRPL44	224532757	0.005000	0.15991	0.981000	0.43875	0.030000	0.12068	0.015000	0.13355	-0.206000	0.10203	-2.558000	0.00175	ATG	.		0.428	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915	
SP110	3431	broad.mit.edu	37	2	231050754	231050754	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr2:231050754A>G	ENST00000358662.4	-	11	1313	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	SP110_ENST00000258382.5_Missense_Mutation_p.V412A|SP110_ENST00000392048.3_Missense_Mutation_p.V410A|SP110_ENST00000540870.1_Missense_Mutation_p.V418A|SP110_ENST00000338556.3_Missense_Mutation_p.V114A|SP110_ENST00000258381.6_Missense_Mutation_p.V412A	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	412					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGCCTTTTGGACCCTCATCAT	0.478																																					p.V418A													.	SP110-155	0			c.T1253C						.						228.0	196.0	207.0					2																	231050754		2203	4300	6503	SO:0001583	missense	3431	exon12			TTTTGGACCCTCA	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.1235T>C	2.37:g.231050754A>G	ENSP00000351488:p.Val412Ala	Somatic	174	1		WXS	Illumina HiSeq	Phase_I	162	5	NM_001185015	0	0	31	31	0	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Missense_Mutation	SNP	ENST00000358662.4	37	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.589058	0.00864	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000338556	T;T;T;T;T;T	0.62941	1.2;1.06;-0.01;-0.01;-0.01;2.68	2.59	-0.621	0.11564	.	1.906820	0.02978	N	0.145300	T	0.35998	0.0951	N	0.11064	0.09	0.09310	N	1	B;B;B;B;B	0.11235	0.0;0.003;0.0;0.004;0.003	B;B;B;B;B	0.09377	0.001;0.002;0.001;0.002;0.004	T	0.15263	-1.0443	10	0.08179	T	0.78	.	2.252	0.04045	0.3215:0.0:0.4368:0.2417	.	410;114;418;412;412	G5E9C0;E7ER70;F5H1M1;Q9HB58;Q9HB58-6	.;.;.;SP110_HUMAN;.	A	412;412;410;412;418;114	ENSP00000258381:V412A;ENSP00000351488:V412A;ENSP00000375902:V410A;ENSP00000258382:V412A;ENSP00000439558:V418A;ENSP00000344049:V114A	ENSP00000258381:V412A	V	-	2	0	SP110	230758998	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.215000	0.09279	-0.155000	0.11098	-0.475000	0.04921	GTC	.		0.478	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	
ENTPD6	955	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	25198149	25198149	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr20:25198149G>C	ENST00000376652.4	+	9	973	c.810G>C	c.(808-810)caG>caC	p.Q270H	ENTPD6_ENST00000433259.2_Missense_Mutation_p.Q270H|ENTPD6_ENST00000354989.5_Missense_Mutation_p.Q253H|Y_RNA_ENST00000365544.1_RNA|ENTPD6_ENST00000360031.2_Missense_Mutation_p.Q269H			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	270					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GCACCCTGCAGGCCTCCCCAC	0.537																																					p.Q270H		.											.	ENTPD6-90	0			c.G810C						.						93.0	91.0	92.0					20																	25198149		2203	4300	6503	SO:0001583	missense	955	exon9			CCTGCAGGCCTCC	AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.810G>C	20.37:g.25198149G>C	ENSP00000365840:p.Gln270His	Somatic	132	0		WXS	Illumina HiSeq	Phase_I	131	32	NM_001247	0	0	0	0	0	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	ENST00000376652.4	37	CCDS13170.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	7.510|7.510|7.510	0.654527|0.654527|0.654527	0.14580|0.14580|0.14580	.|.|.	.|.|.	ENSG00000197586|ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000425813|ENST00000433417;ENST00000427553;ENST00000447877	.|T;T;T;T;T;T;T|.	.|0.11495|.	.|2.77;2.77;2.77;2.77;2.77;2.77;2.77|.	5.71|5.71|5.71	2.69|2.69|2.69	0.31865|0.31865|0.31865	.|.|.	.|0.866486|.	.|0.10745|.	.|N|.	.|0.638962|.	T|T|T	0.51686|0.51686|0.51686	0.1689|0.1689|0.1689	L|L|L	0.58925|0.58925|0.58925	1.835|1.835|1.835	0.33639|0.33639|0.33639	D|D|D	0.607014|0.607014|0.607014	.|B;B;B;B;B;B;B;B;B|.	.|0.20459|.	.|0.004;0.045;0.045;0.027;0.045;0.004;0.006;0.022;0.012|.	.|B;B;B;B;B;B;B;B;B|.	.|0.30105|.	.|0.021;0.076;0.076;0.049;0.111;0.029;0.033;0.037;0.037|.	T|T|T	0.58047|0.58047|0.58047	-0.7705|-0.7705|-0.7705	5|10|5	.|0.46703|.	.|T|.	.|0.11|.	-8.1099|-8.1099|-8.1099	5.5882|5.5882|5.5882	0.17287|0.17287|0.17287	0.1474:0.0:0.5745:0.2781|0.1474:0.0:0.5745:0.2781|0.1474:0.0:0.5745:0.2781	.|.|.	.|52;252;270;270;270;253;269;269;270|.	.|B4DHS2;B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354|.	.|.;.;.;.;.;.;.;.;ENTP6_HUMAN|.	R|H|T	94|253;269;190;166;270;252;204;270;222|191;128;163	.|ENSP00000347084:Q253H;ENSP00000353131:Q269H;ENSP00000365840:Q270H;ENSP00000408098:Q252H;ENSP00000395064:Q204H;ENSP00000401895:Q270H;ENSP00000390646:Q222H|.	.|ENSP00000347084:Q253H|.	G|Q|R	+|+|+	1|3|2	0|2|0	ENTPD6|ENTPD6|ENTPD6	25146149|25146149|25146149	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.038000|0.038000|0.038000	0.18304|0.18304|0.18304	0.058000|0.058000|0.058000	0.15608|0.15608|0.15608	1.836000|1.836000|1.836000	0.39191|0.39191|0.39191	0.346000|0.346000|0.346000	0.23899|0.23899|0.23899	0.462000|0.462000|0.462000	0.41574|0.41574|0.41574	GGC|CAG|AGG	.		0.537	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078414.2		
ADRBK2	157	broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	26086189	26086189	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr22:26086189G>A	ENST00000324198.6	+	12	1183	c.991G>A	c.(991-993)Gca>Aca	p.A331T		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	331	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.A331T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACATGGACACGCAAGAATATC	0.413																																					p.A331T													.	ADRBK2-955	1	Substitution - Missense(1)	large_intestine(1)	c.G991A						.						126.0	115.0	119.0					22																	26086189		2203	4300	6503	SO:0001583	missense	157	exon12			GGACACGCAAGAA	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.991G>A	22.37:g.26086189G>A	ENSP00000317578:p.Ala331Thr	Somatic	60	0		WXS	Illumina HiSeq	Phase_I	41	8	NM_005160	0	0	1	1	0	Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082989	0.36758	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.26223	1.75	4.49	4.49	0.54785	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.066369	0.64402	D	0.000012	T	0.26774	0.0655	L	0.42529	1.33	0.33464	D	0.585318	B;B	0.21381	0.012;0.055	B;B	0.26202	0.01;0.067	T	0.36163	-0.9759	10	0.56958	D	0.05	-17.4726	16.7419	0.85461	0.0:0.0:1.0:0.0	.	331;331	A8K869;P35626	.;ARBK2_HUMAN	T	331	ENSP00000317578:A331T	ENSP00000317578:A331T	A	+	1	0	ADRBK2	24416189	1.000000	0.71417	0.169000	0.22859	0.058000	0.15608	9.003000	0.93577	2.485000	0.83878	0.655000	0.94253	GCA	.		0.413	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	
GOLGA4	2803	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	37365472	37365472	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:37365472G>A	ENST00000361924.2	+	14	2469	c.2095G>A	c.(2095-2097)Gcc>Acc	p.A699T	GOLGA4_ENST00000356847.4_Missense_Mutation_p.A721T|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	699	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGTATTAAAAGCCCGTCACAA	0.358																																					p.A721T		.											.	GOLGA4-93	0			c.G2161A						.						32.0	35.0	34.0					3																	37365472		2195	4266	6461	SO:0001583	missense	2803	exon15			TTAAAAGCCCGTC	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2095G>A	3.37:g.37365472G>A	ENSP00000354486:p.Ala699Thr	Somatic	44	0		WXS	Illumina HiSeq	Phase_I	39	29	NM_001172713	0	0	0	18	18	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	6.302	0.423898	0.11928	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	T;T;T	0.22539	1.99;1.99;1.95	5.22	3.44	0.39384	.	0.449282	0.16613	N	0.206829	T	0.13329	0.0323	N	0.25890	0.77	0.09310	N	1	B;B;B;B	0.12013	0.005;0.001;0.001;0.002	B;B;B;B	0.09377	0.004;0.004;0.004;0.003	T	0.30563	-0.9974	10	0.15066	T	0.55	.	10.028	0.42083	0.2751:0.0:0.7249:0.0	.	699;699;721;699	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	T	699;721;260;570	ENSP00000354486:A699T;ENSP00000349305:A721T;ENSP00000405842:A570T	ENSP00000349305:A721T	A	+	1	0	GOLGA4	37340476	0.002000	0.14202	0.168000	0.22838	0.683000	0.39861	0.601000	0.24119	0.721000	0.32231	0.655000	0.94253	GCC	.		0.358	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
ACY1	95	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52023049	52023049	+	Silent	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:52023049G>C	ENST00000404366.2	+	15	1331	c.1185G>C	c.(1183-1185)ctG>ctC	p.L395L	ABHD14A-ACY1_ENST00000463937.1_Silent_p.L496L|ACY1_ENST00000476854.1_Silent_p.L330L|ACY1_ENST00000494103.1_Silent_p.L323L|ACY1_ENST00000458031.2_Silent_p.L485L|ACY1_ENST00000476351.1_Silent_p.L360L	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	395					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	CACGCCTGCTGCCTGCCCTTG	0.607																																					p.L395L		.											.	ACY1-154	0			c.G1185C						.						116.0	102.0	107.0					3																	52023049		2203	4300	6503	SO:0001819	synonymous_variant	95	exon15			CCTGCTGCCTGCC	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.1185G>C	3.37:g.52023049G>C		Somatic	167	1		WXS	Illumina HiSeq	Phase_I	125	98	NM_001198895	0	0	6	495	489	C9J6I6|C9J9D8|C9JWD4	Silent	SNP	ENST00000404366.2	37	CCDS2844.1																																																																																			.		0.607	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	
PBRM1	55193	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52651555	52651555	+	Splice_Site	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:52651555C>T	ENST00000296302.7	-	14	1543		c.e14-1		PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000356770.4_Splice_Site			Q86U86	PB1_HUMAN	polybromo 1						chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GTTCTTTTTACTGTTGAGGGG	0.348			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																.		.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1-575	0			c.1542-1G>A						.						52.0	52.0	52.0					3																	52651555		2202	4300	6502	SO:0001630	splice_region_variant	55193	exon16			TTTTTACTGTTGA	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1542-1G>A	3.37:g.52651555C>T		Somatic	38	0		WXS	Illumina HiSeq	Phase_I	35	23	NM_018313	0	0	0	0	0	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Splice_Site	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	21.4	4.147027	0.77888	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.139	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PBRM1	52626595	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.810000	0.55613	2.764000	0.94973	0.655000	0.94253	.	.		0.348	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	Intron
KIAA2018	205717	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	113377559	113377559	+	Silent	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:113377559T>C	ENST00000478658.1	-	5	2987	c.2970A>G	c.(2968-2970)tcA>tcG	p.S990S	KIAA2018_ENST00000316407.4_Silent_p.S990S|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	990						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GCATTGTATCTGATGAATCTT	0.393																																					p.S990S		.											.	KIAA2018-93	0			c.A2970G						.						113.0	106.0	108.0					3																	113377559		1870	4096	5966	SO:0001819	synonymous_variant	205717	exon7			TGTATCTGATGAA	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2970A>G	3.37:g.113377559T>C		Somatic	152	0		WXS	Illumina HiSeq	Phase_I	134	104	NM_001009899	0	0	0	2	2	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																			.		0.393	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
CD86	942	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	121822644	121822644	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:121822644C>G	ENST00000330540.2	+	3	466	c.350C>G	c.(349-351)cCc>cGc	p.P117R	CD86_ENST00000493101.1_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.P35R|CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.P111R	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	117	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CACAAAAAGCCCACAGGAATG	0.453																																					p.P117R	GBM(67;1379 1389 36064 39806)	.											.	CD86-92	0			c.C350G						.						129.0	134.0	132.0					3																	121822644		2203	4300	6503	SO:0001583	missense	942	exon3			AAAAGCCCACAGG		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.350C>G	3.37:g.121822644C>G	ENSP00000332049:p.Pro117Arg	Somatic	125	0		WXS	Illumina HiSeq	Phase_I	77	64	NM_175862	0	0	6	6	0	A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.769867	0.49680	.	.	ENSG00000114013	ENST00000469710;ENST00000330540;ENST00000482356;ENST00000393627	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	5.54	4.67	0.58626	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.828917	0.10874	N	0.624588	T	0.55768	0.1941	M	0.82630	2.6	0.25045	N	0.991176	D	0.64830	0.994	D	0.65987	0.94	T	0.44574	-0.9319	10	0.41790	T	0.15	-0.8312	10.1893	0.43017	0.0:0.9112:0.0:0.0888	.	117	P42081	CD86_HUMAN	R	35;117;111;111	ENSP00000418988:P35R;ENSP00000332049:P117R;ENSP00000419116:P111R;ENSP00000377248:P111R	ENSP00000332049:P117R	P	+	2	0	CD86	123305334	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.065000	0.14466	1.578000	0.49821	0.655000	0.94253	CCC	.		0.453	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889	
USP38	84640	hgsc.bcm.edu;bcgsc.ca	37	4	144141548	144141548	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:144141548G>C	ENST00000307017.4	+	10	3574	c.3068G>C	c.(3067-3069)tGt>tCt	p.C1023S		NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	1023					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CCAGGAAGCTGTGGACCAACT	0.512																																					p.C1023S		.											.	USP38-660	0			c.G3068C						.						92.0	94.0	93.0					4																	144141548		2203	4300	6503	SO:0001583	missense	84640	exon10			GAAGCTGTGGACC	AF211481	CCDS3758.1	4q31.1	2008-02-05	2005-08-08		ENSG00000170185	ENSG00000170185		"""Ubiquitin-specific peptidases"""	20067	protein-coding gene	gene with protein product			"""ubiquitin specific protease 38"""			12838346	Standard	NM_032557		Approved	KIAA1891, HP43.8KD	uc003ijb.3	Q8NB14	OTTHUMG00000161420	ENST00000307017.4:c.3068G>C	4.37:g.144141548G>C	ENSP00000303434:p.Cys1023Ser	Somatic	92	0		WXS	Illumina HiSeq	Phase_I	71	4	NM_032557	0	0	26	26	0	B3KX93|Q3ZCV1|Q8NDF5|Q96DK6|Q96PZ6|Q9BY55	Missense_Mutation	SNP	ENST00000307017.4	37	CCDS3758.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312440	0.81358	.	.	ENSG00000170185	ENST00000307017	T	0.10477	2.87	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.01452	-1.1351	10	0.62326	D	0.03	-13.0776	20.1294	0.97995	0.0:0.0:1.0:0.0	.	1023	Q8NB14	UBP38_HUMAN	S	1023	ENSP00000303434:C1023S	ENSP00000303434:C1023S	C	+	2	0	USP38	144360998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.758000	0.94735	0.591000	0.81541	TGT	.		0.512	USP38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364869.1	NM_032557	
SMAD1	4086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	146475084	146475084	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:146475084T>G	ENST00000515385.1	+	6	1688	c.1146T>G	c.(1144-1146)atT>atG	p.I382M	SMAD1_ENST00000302085.4_Missense_Mutation_p.I382M|SMAD1_ENST00000394092.2_Missense_Mutation_p.I382M			Q15797	SMAD1_HUMAN	SMAD family member 1	382	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GTCTGAAAATTTTTAACAACC	0.398																																					p.I382M	Pancreas(182;1287 2092 10326 35158 50562)	.											.	SMAD1-415	0			c.T1146G						.						165.0	158.0	160.0					4																	146475084		2203	4300	6503	SO:0001583	missense	4086	exon6			GAAAATTTTTAAC	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.1146T>G	4.37:g.146475084T>G	ENSP00000426568:p.Ile382Met	Somatic	141	0		WXS	Illumina HiSeq	Phase_I	101	36	NM_005900	0	0	8	14	6	A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	T	19.20	3.782414	0.70222	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.97811	-4.55;-4.55;-4.55	5.73	2.08	0.27032	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	H	0.95712	3.71	0.80722	D	1	D	0.54397	0.966	D	0.73708	0.981	D	0.98389	1.0562	10	0.87932	D	0	.	9.1222	0.36795	0.0:0.1974:0.0:0.8026	.	382	Q15797	SMAD1_HUMAN	M	382	ENSP00000305769:I382M;ENSP00000377652:I382M;ENSP00000426568:I382M	ENSP00000305769:I382M	I	+	3	3	SMAD1	146694534	0.995000	0.38212	1.000000	0.80357	0.983000	0.72400	0.316000	0.19469	0.136000	0.18733	0.528000	0.53228	ATT	.		0.398	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900	
IRF2	3660	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	185339324	185339324	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:185339324G>C	ENST00000393593.3	-	5	615	c.408C>G	c.(406-408)atC>atG	p.I136M	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	136					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		AGATTACCTTGATGTGCTTAA	0.398																																					p.I136M		.											.	IRF2-91	0			c.C408G						.						317.0	261.0	280.0					4																	185339324		2203	4300	6503	SO:0001583	missense	3660	exon5			TACCTTGATGTGC		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.408C>G	4.37:g.185339324G>C	ENSP00000377218:p.Ile136Met	Somatic	187	0		WXS	Illumina HiSeq	Phase_I	186	64	NM_002199	0	0	0	0	0	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.31|11.31	1.601714|1.601714	0.28534|0.28534	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316|ENST00000505067	D;D;D;D|.	0.98090|.	-4.66;-4.65;-4.63;-4.71|.	6.17|6.17	5.17|5.17	0.71159|0.71159	.|.	0.584493|.	0.19685|.	N|.	0.108406|.	T|T	0.49047|0.49047	0.1534|0.1534	L|L	0.44542|0.44542	1.39|1.39	0.42544|0.42544	D|D	0.993085|0.993085	B|.	0.23854|.	0.092|.	B|.	0.18263|.	0.021|.	T|T	0.44205|0.44205	-0.9343|-0.9343	10|5	0.45353|.	T|.	0.12|.	-20.7082|-20.7082	5.7421|5.7421	0.18100|0.18100	0.129:0.0:0.6708:0.2002|0.129:0.0:0.6708:0.2002	.|.	136|.	P14316|.	IRF2_HUMAN|.	M|E	136|35	ENSP00000377218:I136M;ENSP00000427204:I136M;ENSP00000424552:I136M;ENSP00000422860:I136M|.	ENSP00000377218:I136M|.	I|Q	-|-	3|1	3|0	IRF2|IRF2	185576318|185576318	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.647000|0.647000	0.24812|0.24812	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	ATC|CAA	.		0.398	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1		
FAT1	2195	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	187525694	187525694	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:187525694A>G	ENST00000441802.2	-	18	10594	c.10385T>C	c.(10384-10386)cTg>cCg	p.L3462P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3462	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTTACTACCAGCTGCAGCAC	0.418										HNSCC(5;0.00058)																											p.L3462P	Colon(197;1040 2055 4143 4984 49344)	.											.	FAT1-34	0			c.T10385C						.						55.0	54.0	54.0					4																	187525694		1923	4142	6065	SO:0001583	missense	2195	exon18			ACTACCAGCTGCA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10385T>C	4.37:g.187525694A>G	ENSP00000406229:p.Leu3462Pro	Somatic	37	0		WXS	Illumina HiSeq	Phase_I	38	13	NM_005245	0	0	94	173	79		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	16.11	3.031570	0.54790	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.56941	0.43	5.42	5.42	0.78866	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79587	0.4471	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84979	0.0887	10	0.66056	D	0.02	.	15.6278	0.76874	1.0:0.0:0.0:0.0	.	3462	Q14517	FAT1_HUMAN	P	3462;3464	ENSP00000406229:L3462P	ENSP00000260147:L3464P	L	-	2	0	FAT1	187762688	1.000000	0.71417	0.847000	0.33407	0.014000	0.08584	8.761000	0.91691	2.280000	0.76307	0.460000	0.39030	CTG	.		0.418	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
FRG1	2483	hgsc.bcm.edu	37	4	190878625	190878625	+	Missense_Mutation	SNP	A	A	G	rs373840195		TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr4:190878625A>G	ENST00000226798.4	+	6	727	c.505A>G	c.(505-507)Agt>Ggt	p.S169G	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	169					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.S169G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGAAGCAAAAAGTAAAACAGC	0.363																																					p.S169G		.											.	FRG1-90	1	Substitution - Missense(1)	lung(1)	c.A505G						.						49.0	46.0	47.0					4																	190878625		2183	4281	6464	SO:0001583	missense	2483	exon6			GCAAAAAGTAAAA	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.505A>G	4.37:g.190878625A>G	ENSP00000226798:p.Ser169Gly	Somatic	92	1		WXS	Illumina HiSeq	Phase_I	77	5	NM_004477	0	0	201	201	0	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	21.2	4.112843	0.77210	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	T;T	0.49139	1.86;0.79	4.19	4.19	0.49359	Actin cross-linking (1);	0.160510	0.64402	D	0.000002	T	0.58750	0.2144	M	0.77103	2.36	0.49915	D	0.999832	D	0.55800	0.973	P	0.53102	0.718	T	0.61426	-0.7065	10	0.39692	T	0.17	0.1847	11.5749	0.50856	1.0:0.0:0.0:0.0	.	169	Q14331	FRG1_HUMAN	G	169;41;106	ENSP00000226798:S169G;ENSP00000435943:S106G	ENSP00000226798:S169G	S	+	1	0	FRG1	191115619	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	9.044000	0.93805	1.677000	0.50941	0.373000	0.22412	AGT	.		0.363	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
ADCY2	108	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	7766912	7766912	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr5:7766912T>G	ENST00000338316.4	+	17	2296	c.2207T>G	c.(2206-2208)tTc>tGc	p.F736C	ADCY2_ENST00000537121.1_Missense_Mutation_p.F556C	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	736					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AATTTATTTTTCCTCCCGGTA	0.428																																					p.F736C		.											.	ADCY2-97	0			c.T2207G						.						185.0	191.0	189.0					5																	7766912		2203	4300	6503	SO:0001583	missense	108	exon17			TATTTTTCCTCCC	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2207T>G	5.37:g.7766912T>G	ENSP00000342952:p.Phe736Cys	Somatic	265	1		WXS	Illumina HiSeq	Phase_I	252	87	NM_020546	0	0	0	1	1	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	T	14.34	2.505571	0.44558	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.82433	-1.12;-1.61	5.46	5.46	0.80206	.	0.174588	0.52532	D	0.000064	T	0.77942	0.4206	L	0.47716	1.5	0.58432	D	0.999999	B;B	0.12013	0.0;0.005	B;B	0.08055	0.003;0.003	T	0.73591	-0.3934	10	0.41790	T	0.15	.	12.9176	0.58214	0.0:0.0:0.0:1.0	.	556;736	B7Z2C1;Q08462	.;ADCY2_HUMAN	C	736;569;556	ENSP00000342952:F736C;ENSP00000444803:F556C	ENSP00000342952:F736C	F	+	2	0	ADCY2	7819912	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.354000	0.44098	2.070000	0.61991	0.533000	0.62120	TTC	.		0.428	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546	
UGT3A2	167127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	36039694	36039694	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr5:36039694A>C	ENST00000282507.3	-	5	1061	c.960T>G	c.(958-960)ttT>ttG	p.F320L	UGT3A2_ENST00000545528.1_Missense_Mutation_p.F18L|UGT3A2_ENST00000504954.1_5'Flank|UGT3A2_ENST00000513300.1_Missense_Mutation_p.F286L	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	320					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAGGTGAGCAAAGGCATTGT	0.493																																					p.F320L		.											.	UGT3A2-158	0			c.T960G						.						142.0	130.0	134.0					5																	36039694		2203	4300	6503	SO:0001583	missense	167127	exon5			GTGAGCAAAGGCA		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.960T>G	5.37:g.36039694A>C	ENSP00000282507:p.Phe320Leu	Somatic	122	0		WXS	Illumina HiSeq	Phase_I	126	46	NM_174914	0	0	0	0	0	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	A	8.718	0.913757	0.17907	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.50001	0.76;0.76;4.06	3.18	3.18	0.36537	.	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	L	0.35414	1.06	0.36452	D	0.866122	D;D	0.89917	0.998;1.0	D;D	0.91635	0.986;0.999	T	0.54543	-0.8278	10	0.02654	T	1	.	6.7806	0.23643	0.8835:0.0:0.1165:0.0	.	286;320	E9PFK7;Q3SY77	.;UD3A2_HUMAN	L	320;286;18	ENSP00000282507:F320L;ENSP00000427404:F286L;ENSP00000445367:F18L	ENSP00000282507:F320L	F	-	3	2	UGT3A2	36075451	0.999000	0.42202	0.882000	0.34594	0.212000	0.24457	0.703000	0.25646	1.689000	0.51079	0.482000	0.46254	TTT	.		0.493	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
GFRA3	2676	hgsc.bcm.edu	37	5	137610073	137610073	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr5:137610073A>G	ENST00000274721.3	-	1	287	c.41T>C	c.(40-42)gTc>gCc	p.V14A	GFRA3_ENST00000378362.3_Missense_Mutation_p.V14A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	14					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			caacatcaggactacgggcgg	0.731																																					p.V14A		.											.	GFRA3-91	0			c.T41C						.						6.0	10.0	8.0					5																	137610073		2055	4108	6163	SO:0001583	missense	2676	exon1			ATCAGGACTACGG	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.41T>C	5.37:g.137610073A>G	ENSP00000274721:p.Val14Ala	Somatic	8	0		WXS	Illumina HiSeq	Phase_I	9	6	NM_001496	0	0	0	0	0	B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Missense_Mutation	SNP	ENST00000274721.3	37	CCDS4201.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.413148	0.25465	.	.	ENSG00000146013	ENST00000274721;ENST00000378362	T;T	0.49139	1.38;0.79	3.8	2.63	0.31362	.	2.674420	0.01678	N	0.025995	T	0.31071	0.0785	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.18263	0.021;0.009	T	0.24261	-1.0165	10	0.51188	T	0.08	0.3298	5.8269	0.18558	0.879:0.0:0.121:0.0	.	14;14	O60609-2;O60609	.;GFRA3_HUMAN	A	14	ENSP00000274721:V14A;ENSP00000367613:V14A	ENSP00000274721:V14A	V	-	2	0	GFRA3	137637972	0.015000	0.18098	0.128000	0.21923	0.007000	0.05969	1.017000	0.29989	0.799000	0.34018	0.477000	0.44152	GTC	.		0.731	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496	
SNRPC	6631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	34730469	34730469	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:34730469T>C	ENST00000244520.5	+	3	287	c.149T>C	c.(148-150)aTt>aCt	p.I50T	SNRPC_ENST00000474635.1_3'UTR|SNRPC_ENST00000374018.1_Missense_Mutation_p.I9T|SNRPC_ENST00000374017.3_Missense_Mutation_p.I71T	NM_003093.2	NP_003084.1			small nuclear ribonucleoprotein polypeptide C											endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						CAGAGCCTGATTGACAAAACA	0.413																																					p.I50T	NSCLC(131;576 1831 5287 11175 13324)	.											.	SNRPC-90	0			c.T149C						.						81.0	72.0	75.0					6																	34730469		2203	4300	6503	SO:0001583	missense	6631	exon3			GCCTGATTGACAA		CCDS34436.1	6p21	2014-03-06			ENSG00000124562	ENSG00000124562			11157	protein-coding gene	gene with protein product		603522				2971157, 8532530	Standard	NR_029472		Approved	U1-C, Yhc1	uc003ojt.2	P09234	OTTHUMG00000014555	ENST00000244520.5:c.149T>C	6.37:g.34730469T>C	ENSP00000244520:p.Ile50Thr	Somatic	25	0		WXS	Illumina HiSeq	Phase_I	22	6	NM_003093	0	0	0	0	0		Missense_Mutation	SNP	ENST00000244520.5	37	CCDS34436.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330727	0.60853	.	.	ENSG00000124562	ENST00000244520;ENST00000374018;ENST00000374017	T;T;T	0.32988	1.43;1.43;1.43	6.17	4.99	0.66335	.	0.093403	0.64402	N	0.000001	T	0.20170	0.0485	M	0.80422	2.495	0.80722	D	1	P	0.36144	0.539	B	0.28709	0.093	T	0.05273	-1.0895	10	0.52906	T	0.07	.	12.5154	0.56030	0.1252:0.0:0.0:0.8748	.	50	P09234	RU1C_HUMAN	T	50;9;71	ENSP00000244520:I50T;ENSP00000363130:I9T;ENSP00000363129:I71T	ENSP00000244520:I50T	I	+	2	0	SNRPC	34838447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.602000	0.82796	1.111000	0.41721	0.533000	0.62120	ATT	.		0.413	SNRPC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040255.1	NM_003093	
PPARD	5467	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	35392132	35392132	+	Silent	SNP	A	A	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:35392132A>C	ENST00000311565.4	+	8	1003	c.654A>C	c.(652-654)acA>acC	p.T218T	PPARD_ENST00000418635.2_Silent_p.T120T|PPARD_ENST00000448077.2_Silent_p.T179T|PPARD_ENST00000337400.2_Silent_p.T218T|PPARD_ENST00000444397.1_Silent_p.T218T|PPARD_ENST00000360694.3_Silent_p.T218T|PPARD_ENST00000540939.1_Silent_p.T115T	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	218					adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACATCGAGACATTGTGGCAGG	0.597																																					p.T218T		.											.	PPARD-187	0			c.A654C						.						56.0	54.0	55.0					6																	35392132		2203	4300	6503	SO:0001819	synonymous_variant	5467	exon8			CGAGACATTGTGG	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.654A>C	6.37:g.35392132A>C		Somatic	67	0		WXS	Illumina HiSeq	Phase_I	62	22	NM_001171818	0	0	25	34	9	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Silent	SNP	ENST00000311565.4	37	CCDS4803.1																																																																																			.		0.597	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238	
TCTE1	202500	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	44254102	44254102	+	Missense_Mutation	SNP	C	C	T	rs149566851		TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:44254102C>T	ENST00000371505.4	-	3	567	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_5'Flank|TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	149										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCTGCCGCCATGGTGG	0.612																																					p.G149S		.											.	TCTE1-94	0			c.G445A						.						69.0	62.0	64.0					6																	44254102		2203	4300	6503	SO:0001583	missense	202500	exon3			AGCTGCCGCCATG	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.445G>A	6.37:g.44254102C>T	ENSP00000360560:p.Gly149Ser	Somatic	91	0		WXS	Illumina HiSeq	Phase_I	108	22	NM_182539	0	0	0	0	0	B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172677	0.38413	.	.	ENSG00000146221	ENST00000371505	T	0.53857	0.6	4.95	0.751	0.18392	.	0.494509	0.24332	N	0.039444	T	0.22666	0.0547	M	0.66939	2.045	0.31913	N	0.614463	B	0.29508	0.246	B	0.15484	0.013	T	0.02698	-1.1122	10	0.42905	T	0.14	-22.0618	3.2087	0.06675	0.1282:0.533:0.1253:0.2135	.	149	Q5JU00	TCTE1_HUMAN	S	149	ENSP00000360560:G149S	ENSP00000360560:G149S	G	-	1	0	TCTE1	44362080	0.194000	0.23325	0.977000	0.42913	0.826000	0.46750	1.144000	0.31565	1.073000	0.40885	0.563000	0.77884	GGC	C|1.000;A|0.000		0.612	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539	
TDRD6	221400	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	46660547	46660547	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:46660547G>C	ENST00000316081.6	+	1	4682	c.4682G>C	c.(4681-4683)aGg>aCg	p.R1561T	TDRD6_ENST00000544460.1_Missense_Mutation_p.R1561T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1561					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTAGCAGACAGGAGAAATTGT	0.383																																					p.R1561T		.											.	TDRD6-138	0			c.G4682C						.						143.0	136.0	139.0					6																	46660547		2203	4300	6503	SO:0001583	missense	221400	exon1			CAGACAGGAGAAA	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4682G>C	6.37:g.46660547G>C	ENSP00000346065:p.Arg1561Thr	Somatic	86	0		WXS	Illumina HiSeq	Phase_I	70	30	NM_001168359	0	0	0	0	0	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	G	4.125	0.021357	0.08006	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.14640	2.49;2.49	5.77	1.57	0.23409	Maternal tudor protein (1);	2.015520	0.01660	N	0.025077	T	0.01870	0.0059	N	0.17082	0.46	0.09310	N	1	B;B	0.20550	0.037;0.046	B;B	0.16289	0.009;0.015	T	0.36040	-0.9764	10	0.14252	T	0.57	-1.2406	1.4939	0.02462	0.3025:0.1233:0.4278:0.1465	.	1561;1561	F5H5M3;O60522	.;TDRD6_HUMAN	T	1561	ENSP00000443299:R1561T;ENSP00000346065:R1561T	ENSP00000346065:R1561T	R	+	2	0	TDRD6	46768506	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.037000	0.13840	-0.027000	0.13873	-0.345000	0.07892	AGG	.		0.383	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
FAM46A	55603	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	82461531	82461531	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:82461531C>T	ENST00000320172.6	-	2	642	c.328G>A	c.(328-330)Gag>Aag	p.E110K	FAM46A_ENST00000369756.3_Missense_Mutation_p.E191K|FAM46A_ENST00000369754.3_Missense_Mutation_p.E129K	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	110					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		ATGCGCTTCTCGGCCAGGCGC	0.672																																					p.E110K		.											.	FAM46A-90	0			c.G328A						.						33.0	33.0	33.0					6																	82461531		2199	4296	6495	SO:0001583	missense	55603	exon2			GCTTCTCGGCCAG	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.328G>A	6.37:g.82461531C>T	ENSP00000318298:p.Glu110Lys	Somatic	71	0		WXS	Illumina HiSeq	Phase_I	67	31	NM_017633	0	0	0	0	0	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133356	0.77662	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.24538	1.85;1.85;1.85	5.38	5.38	0.77491	Domain of unknown function DUF1693 (1);	0.093645	0.64402	D	0.000001	T	0.12902	0.0313	L	0.39514	1.22	0.80722	D	1	P;P	0.41748	0.524;0.761	B;B	0.35413	0.202;0.128	T	0.03268	-1.1054	9	.	.	.	-16.9061	18.9095	0.92477	0.0:1.0:0.0:0.0	.	110;129	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	K	129;110;191	ENSP00000358769:E129K;ENSP00000318298:E110K;ENSP00000358771:E191K	.	E	-	1	0	FAM46A	82518250	0.983000	0.35010	0.952000	0.39060	0.004000	0.04260	2.564000	0.45931	2.786000	0.95864	0.563000	0.77884	GAG	.		0.672	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1		
ROS1	6098	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	117706858	117706858	+	Silent	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:117706858T>A	ENST00000368508.3	-	15	2490	c.2292A>T	c.(2290-2292)ggA>ggT	p.G764G	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.G759G	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	764					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATATGTCTTTCCAGCCCAGT	0.423			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																p.G764G		.		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	.	ROS1-1353	0			c.A2292T						.						94.0	87.0	89.0					6																	117706858		2203	4300	6503	SO:0001819	synonymous_variant	6098	exon15			TGTCTTTCCAGCC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2292A>T	6.37:g.117706858T>A		Somatic	143	0		WXS	Illumina HiSeq	Phase_I	118	53	NM_002944	0	0	0	0	0	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1																																																																																			.		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
RAET1G	353091	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	150240371	150240371	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:150240371T>C	ENST00000367360.2	-	3	506	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.I147V|RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		AGGAGGAAGATCTGTCCATCG	0.507																																					p.I147V		.											.	RAET1G-90	0			c.A439G						.						210.0	194.0	200.0					6																	150240371		2203	4300	6503	SO:0001583	missense	353091	exon3			GGAAGATCTGTCC	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.439A>G	6.37:g.150240371T>C	ENSP00000356329:p.Ile147Val	Somatic	142	0		WXS	Illumina HiSeq	Phase_I	130	59	NM_001001788	0	0	1	2	1		Missense_Mutation	SNP	ENST00000367360.2	37	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	T	2.316	-0.356879	0.05138	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.00695	5.83;5.83	2.4	-0.116	0.13555	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00356	0.0011	L	0.39898	1.24	0.09310	N	1	B	0.24043	0.096	B	0.37091	0.241	T	0.33650	-0.9860	9	0.22706	T	0.39	.	6.0143	0.19594	0.0:0.1591:0.0:0.8409	.	147	Q6H3X3	RET1G_HUMAN	V	147	ENSP00000356329:I147V;ENSP00000417503:I147V	ENSP00000356329:I147V	I	-	1	0	RAET1G	150282064	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-1.019000	0.03622	-0.018000	0.14079	-1.493000	0.00968	ATC	.		0.507	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2		
PSMB1	5689	broad.mit.edu	37	6	170844433	170844433	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:170844433G>A	ENST00000262193.6	-	6	699	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	201					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)|Carfilzomib(DB08889)	TTCACCAGCCGCATGGCTCTG	0.517																																					p.R201W													.	PSMB1-91	0			c.C601T						.						112.0	92.0	99.0					6																	170844433		2203	4300	6503	SO:0001583	missense	5689	exon6			CCAGCCGCATGGC	D00761	CCDS34577.1	6q27	2008-02-05			ENSG00000008018	ENSG00000008018		"""Proteasome (prosome, macropain) subunits"""	9537	protein-coding gene	gene with protein product		602017				2025653	Standard	NM_002793		Approved	PMSB1, HC5	uc011ehe.2	P20618	OTTHUMG00000016087	ENST00000262193.6:c.601C>T	6.37:g.170844433G>A	ENSP00000262193:p.Arg201Trp	Somatic	89	0		WXS	Illumina HiSeq	Phase_I	86	6	NM_002793	0	0	416	460	44	B5BU76|Q9BWA8	Missense_Mutation	SNP	ENST00000262193.6	37	CCDS34577.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.956117	0.73902	.	.	ENSG00000008018	ENST00000262193	T	0.23348	1.91	5.24	2.36	0.29203	.	0.239529	0.43260	D	0.000583	T	0.13457	0.0326	L	0.34521	1.04	0.39062	D	0.960548	D	0.61697	0.99	P	0.49561	0.615	T	0.02326	-1.1176	10	0.72032	D	0.01	-2.7203	9.9065	0.41379	0.0:0.1264:0.4619:0.4117	.	201	P20618	PSB1_HUMAN	W	201	ENSP00000262193:R201W	ENSP00000262193:R201W	R	-	1	2	PSMB1	170686358	1.000000	0.71417	0.909000	0.35828	0.997000	0.91878	2.466000	0.45084	0.175000	0.19841	0.555000	0.69702	CGG	.		0.517	PSMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043278.2	NM_002793	
HEATR2	54919	broad.mit.edu	37	7	813765	813765	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:813765C>T	ENST00000297440.6	+	10	2032	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	HEATR2_ENST00000313147.5_Missense_Mutation_p.A671V|HEATR2_ENST00000403952.3_Missense_Mutation_p.A96V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	671						cytoplasm (GO:0005737)				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AGGACAGCCGCGGCCATCCGC	0.672																																					p.A671V													.	HEATR2-69	0			c.C2012T						.						53.0	56.0	55.0					7																	813765		2203	4299	6502	SO:0001583	missense	54919	exon10			CAGCCGCGGCCAT	AL832914, AK000404, NM_017802, AK056233	CCDS34580.1	7p22.3	2014-05-06	2006-05-19		ENSG00000164818	ENSG00000164818			26013	protein-coding gene	gene with protein product		614864				23040496	Standard	NM_017802		Approved	FLJ20397, FLJ31671, FLJ39381, FLJ25564, CILD18	uc010krz.1	Q86Y56	OTTHUMG00000151416	ENST00000297440.6:c.2012C>T	7.37:g.813765C>T	ENSP00000297440:p.Ala671Val	Somatic	84	0		WXS	Illumina HiSeq	Phase_I	141	5	NM_017802	0	0	64	69	5	Q69YL1|Q96FI9|Q9NX75	Missense_Mutation	SNP	ENST00000297440.6	37	CCDS34580.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358942	0.82353	.	.	ENSG00000164818	ENST00000297440;ENST00000313147;ENST00000537862;ENST00000403952	T;T;T	0.58506	0.73;0.73;0.33	5.44	2.33	0.28932	Armadillo-like helical (1);Armadillo-type fold (1);	0.294063	0.36338	N	0.002648	T	0.72510	0.3469	M	0.74258	2.255	0.35527	D	0.801947	D;D;D	0.89917	0.999;1.0;1.0	P;P;D	0.66497	0.821;0.87;0.944	T	0.80652	-0.1287	10	0.36615	T	0.2	-23.4652	16.4317	0.83847	0.0:0.5274:0.4725:0.0	.	671;96;417	Q86Y56;E9PGY2;F5H8D4	HEAT2_HUMAN;.;.	V	671;671;417;96	ENSP00000297440:A671V;ENSP00000321451:A671V;ENSP00000384884:A96V	ENSP00000297440:A671V	A	+	2	0	HEATR2	780291	0.880000	0.30214	0.814000	0.32528	0.990000	0.78478	1.365000	0.34182	1.279000	0.44446	0.561000	0.74099	GCG	.		0.672	HEATR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322542.1	NM_017802	
HECW1	23072	broad.mit.edu	37	7	43581576	43581576	+	Silent	SNP	T	T	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:43581576T>A	ENST00000395891.2	+	26	4832	c.4227T>A	c.(4225-4227)gtT>gtA	p.V1409V	HECW1_ENST00000453890.1_Silent_p.V1375V	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1409	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTTTCACTGTTAATGAAGAGG	0.373																																					p.V1409V													.	HECW1-669	0			c.T4227A						.						177.0	165.0	169.0					7																	43581576		1882	4123	6005	SO:0001819	synonymous_variant	23072	exon26			CACTGTTAATGAA	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4227T>A	7.37:g.43581576T>A		Somatic	104	0		WXS	Illumina HiSeq	Phase_I	163	7	NM_015052	0	0	24	26	2	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403208	0.25291	.	.	ENSG00000002746	ENST00000429529	.	.	.	5.95	-4.24	0.03777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.3464	0.32275	0.0:0.2576:0.4072:0.3352	.	.	.	.	X	133	.	.	L	+	2	0	HECW1	43548101	0.787000	0.28750	0.865000	0.33974	0.921000	0.55340	-0.171000	0.09883	-0.096000	0.12329	0.460000	0.39030	TTA	.		0.373	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
GNAI1	2770	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	79842142	79842142	+	Silent	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:79842142A>G	ENST00000351004.3	+	7	1204	c.831A>G	c.(829-831)aaA>aaG	p.K277K	GNAI1_ENST00000457358.2_Silent_p.K225K	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	277					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|response to peptide hormone (GO:0043434)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGAAGAAAAAATCAAAAAGA	0.323																																					p.K277K		.											.	GNAI1-653	0			c.A831G						.						67.0	74.0	71.0					7																	79842142		2203	4294	6497	SO:0001819	synonymous_variant	2770	exon7			AGAAAAAATCAAA	AL049933	CCDS5595.1, CCDS59061.1	7q21-q22	2008-07-18			ENSG00000127955	ENSG00000127955			4384	protein-coding gene	gene with protein product	"""Gi1 protein alpha subunit"""	139310				3110783	Standard	NM_002069		Approved		uc003uhb.1	P63096	OTTHUMG00000023523	ENST00000351004.3:c.831A>G	7.37:g.79842142A>G		Somatic	198	0		WXS	Illumina HiSeq	Phase_I	263	74	NM_002069	0	0	13	16	3	A8KA88|B4E2V1|C9J3A4|P04898|P11015|P31871|Q5U074|Q8TAN5|Q9UGA4	Silent	SNP	ENST00000351004.3	37	CCDS5595.1																																																																																			.		0.323	GNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253254.1	NM_002069	
SAMD9	54809	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	92734539	92734539	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:92734539T>G	ENST00000379958.2	-	3	1141	c.872A>C	c.(871-873)gAa>gCa	p.E291A		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	291						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CAGTAAAACTTCCACAAATCT	0.353																																					p.E291A		.											.	SAMD9-140	0			c.A872C						.						122.0	121.0	121.0					7																	92734539		2203	4300	6503	SO:0001583	missense	54809	exon2			AAAACTTCCACAA	AB095925	CCDS34680.1	7q21.2	2013-01-10	2004-07-15	2004-07-16	ENSG00000205413	ENSG00000205413		"""Sterile alpha motif (SAM) domain containing"""	1348	protein-coding gene	gene with protein product		610456	"""chromosome 7 open reading frame 5"""	C7orf5			Standard	NM_017654		Approved	KIAA2004, FLJ20073	uc003umg.3	Q5K651	OTTHUMG00000155809	ENST00000379958.2:c.872A>C	7.37:g.92734539T>G	ENSP00000369292:p.Glu291Ala	Somatic	88	0		WXS	Illumina HiSeq	Phase_I	95	52	NM_001193307	0	0	3	6	3	A2RU68|Q5K649|Q6P080|Q75N21|Q8IVG6|Q9NXS8	Missense_Mutation	SNP	ENST00000379958.2	37	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	T	17.37	3.372223	0.61624	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	T;T	0.16324	2.35;2.35	4.34	4.34	0.51931	.	0.190136	0.33127	U	0.005253	T	0.20700	0.0498	M	0.73598	2.24	0.30798	N	0.740149	P	0.40970	0.734	B	0.35114	0.196	T	0.33111	-0.9881	10	0.72032	D	0.01	-8.454	12.7423	0.57259	0.0:0.0:0.0:1.0	.	291	Q5K651	SAMD9_HUMAN	A	291	ENSP00000369292:E291A;ENSP00000414529:E291A	ENSP00000369292:E291A	E	-	2	0	SAMD9	92572475	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	2.498000	0.45363	1.948000	0.56530	0.491000	0.48974	GAA	.		0.353	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	NM_017654	
EPHB4	2050	broad.mit.edu	37	7	100417814	100417814	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:100417814G>T	ENST00000358173.3	-	5	1381	c.913C>A	c.(913-915)Cgc>Agc	p.R305S	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.R305S|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	305	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TACCCGACGCGGCACTGGCAG	0.642																																					p.R305S	GBM(200;2113 3072 25865 52728)												.	EPHB4-1446	0			c.C913A						.						94.0	106.0	102.0					7																	100417814		2203	4300	6503	SO:0001583	missense	2050	exon5			CGACGCGGCACTG	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.913C>A	7.37:g.100417814G>T	ENSP00000350896:p.Arg305Ser	Somatic	232	1		WXS	Illumina HiSeq	Phase_I	302	8	NM_004444	0	0	67	67	0	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757504	0.69648	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.97256	-4.31;-4.31	5.35	5.35	0.76521	Fibronectin, type III (1);	0.000000	0.50627	D	0.000103	D	0.96849	0.8971	M	0.77103	2.36	0.40821	D	0.983509	P;P;P;P	0.51449	0.712;0.712;0.931;0.945	B;B;P;P	0.45071	0.185;0.185;0.468;0.468	D	0.97760	1.0220	10	0.66056	D	0.02	.	16.5291	0.84353	0.0:0.0:1.0:0.0	.	305;305;305;305	B5A972;B5A970;Q96L35;P54760	.;.;.;EPHB4_HUMAN	S	305	ENSP00000353833:R305S;ENSP00000350896:R305S	ENSP00000350896:R305S	R	-	1	0	EPHB4	100255750	1.000000	0.71417	0.981000	0.43875	0.941000	0.58515	3.510000	0.53393	2.491000	0.84063	0.655000	0.94253	CGC	.		0.642	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444	
SLC26A5	375611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	103029511	103029511	+	Silent	SNP	A	A	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:103029511A>G	ENST00000306312.3	-	14	1719	c.1458T>C	c.(1456-1458)taT>taC	p.Y486Y	SLC26A5_ENST00000393730.1_Silent_p.Y454Y|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000432958.2_Silent_p.Y454Y|SLC26A5_ENST00000339444.6_Silent_p.Y486Y|SLC26A5_ENST00000393723.1_Silent_p.Y454Y|SLC26A5_ENST00000393729.1_Silent_p.Y449Y|SLC26A5_ENST00000393735.2_Silent_p.Y486Y|SLC26A5_ENST00000393727.1_Silent_p.Y486Y|SLC26A5_ENST00000356767.4_Intron	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	486					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGATCAAACCATAGTCCAATC	0.458																																					p.Y486Y		.											.	SLC26A5-91	0			c.T1458C						.						141.0	108.0	119.0					7																	103029511		2203	4300	6503	SO:0001819	synonymous_variant	375611	exon14			CAAACCATAGTCC	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.1458T>C	7.37:g.103029511A>G		Somatic	54	0		WXS	Illumina HiSeq	Phase_I	78	17	NM_206883	0	0	0	0	0	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Silent	SNP	ENST00000306312.3	37	CCDS5733.1																																																																																			.		0.458	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999	
KIAA1549	57670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	138602963	138602963	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:138602963T>C	ENST00000422774.1	-	2	1457	c.1409A>G	c.(1408-1410)gAc>gGc	p.D470G	KIAA1549_ENST00000242365.4_Missense_Mutation_p.D420G|KIAA1549_ENST00000440172.1_Missense_Mutation_p.D470G			Q9HCM3	K1549_HUMAN	KIAA1549	470						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTCAGAGAAGTCTGCTACGAC	0.483			O	BRAF	pilocytic astrocytoma																																p.D470G	NSCLC(119;1534 1718 44213 46230 50068)	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549-369	0			c.A1409G						.						39.0	40.0	40.0					7																	138602963		2029	4193	6222	SO:0001583	missense	57670	exon2			GAGAAGTCTGCTA		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.1409A>G	7.37:g.138602963T>C	ENSP00000416040:p.Asp470Gly	Somatic	66	0		WXS	Illumina HiSeq	Phase_I	77	23	NM_020910	0	0	10	14	4	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.669378	0.29693	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.41065	1.01;1.03;1.03	4.75	3.59	0.41128	.	0.100076	0.43579	N	0.000548	T	0.26448	0.0646	N	0.20986	0.625	0.20703	N	0.999861	B;B	0.23540	0.053;0.087	B;B	0.23018	0.019;0.043	T	0.14476	-1.0471	10	0.33141	T	0.24	.	8.3927	0.32537	0.0:0.089:0.0:0.911	.	470;470	Q9HCM3;Q9HCM3-2	K1549_HUMAN;.	G	470;420;470	ENSP00000406661:D470G;ENSP00000242365:D420G;ENSP00000416040:D470G	ENSP00000242365:D420G	D	-	2	0	KIAA1549	138253503	0.991000	0.36638	0.195000	0.23364	0.070000	0.16714	1.352000	0.34033	0.846000	0.35142	0.533000	0.62120	GAC	.		0.483	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
TMEM176B	28959	broad.mit.edu;bcgsc.ca	37	7	150493608	150493608	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr7:150493608G>C	ENST00000447204.2	-	2	422	c.50C>G	c.(49-51)cCa>cGa	p.P17R	TMEM176B_ENST00000450753.2_Missense_Mutation_p.P17R|TMEM176B_ENST00000429904.2_Missense_Mutation_p.P17R|TMEM176B_ENST00000326442.5_Missense_Mutation_p.P17R|TMEM176B_ENST00000492607.1_Missense_Mutation_p.P17R|TMEM176B_ENST00000434545.1_Missense_Mutation_p.P17R	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	17				PS -> HA (in Ref. 1; AAD23440). {ECO:0000305}.	cell differentiation (GO:0030154)|negative regulation of dendritic cell differentiation (GO:2001199)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCTGGGATGGCCTAGAGGC	0.522																																					p.P17R													.	TMEM176B-91	0			c.C50G						.						91.0	82.0	85.0					7																	150493608		2203	4300	6503	SO:0001583	missense	28959	exon2			TGGGATGGCCTAG	AF115384	CCDS5908.1, CCDS47746.1	7q36.1	2006-09-04			ENSG00000106565	ENSG00000106565			29596	protein-coding gene	gene with protein product		610385				9922225	Standard	NM_014020		Approved	LR8	uc003whu.4	Q3YBM2	OTTHUMG00000157577	ENST00000447204.2:c.50C>G	7.37:g.150493608G>C	ENSP00000410269:p.Pro17Arg	Somatic	70	0		WXS	Illumina HiSeq	Phase_I	123	6	NM_014020	0	1	1537	1645	107	B2RDK2|D3DWZ7|E9PAV4|Q5BJI2|Q9BT42|Q9Y609	Missense_Mutation	SNP	ENST00000447204.2	37	CCDS5908.1	.	.	.	.	.	.	.	.	.	.	G	4.944	0.175328	0.09391	.	.	ENSG00000106565	ENST00000492607;ENST00000326442;ENST00000447204;ENST00000434545;ENST00000429904;ENST00000450753;ENST00000528038	T;T;T;T;T;T	0.07327	3.35;3.35;3.35;3.35;3.35;3.2	4.92	-6.03	0.02185	.	2.014350	0.02708	N	0.112490	T	0.03564	0.0102	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.37197	-0.9716	10	0.14252	T	0.57	2.0728	0.9199	0.01312	0.193:0.1221:0.2552:0.4297	.	17;17	E9PAV4;Q3YBM2	.;T176B_HUMAN	R	17	ENSP00000419258:P17R;ENSP00000318409:P17R;ENSP00000410269:P17R;ENSP00000413531:P17R;ENSP00000397810:P17R;ENSP00000404831:P17R	ENSP00000318409:P17R	P	-	2	0	TMEM176B	150124541	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.663000	0.05299	-0.721000	0.04929	0.467000	0.42956	CCA	.		0.522	TMEM176B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349204.1	NM_014020	
ZNF618	114991	ucsc.edu	37	9	116811236	116811236	+	Missense_Mutation	SNP	A	A	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr9:116811236A>C	ENST00000374126.5	+	15	1753	c.1654A>C	c.(1654-1656)Acc>Ccc	p.T552P	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.T459P			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	552					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CATCGGTGTCACCTGCCACTC	0.587																																					p.T459P													.	ZNF618-22	0			c.A1375C						.						29.0	31.0	30.0					9																	116811236		2195	4284	6479	SO:0001583	missense	114991	exon14			GGTGTCACCTGCC	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1654A>C	9.37:g.116811236A>C	ENSP00000363241:p.Thr552Pro	Somatic	15	3		WXS	Illumina HiSeq		20	5	NM_133374	0	0	17	20	3	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37		.	.	.	.	.	.	.	.	.	.	A	15.38	2.815772	0.50527	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T	0.02656	4.21	5.36	5.36	0.76844	Ribonuclease H-like (1);	0.103380	0.64402	D	0.000004	T	0.13927	0.0337	.	.	.	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.85130	0.986;0.996;0.997	T	0.00395	-1.1766	9	0.49607	T	0.09	-27.0596	14.5379	0.67973	1.0:0.0:0.0:0.0	.	519;552;459	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	P	552;459	ENSP00000288466:T459P	ENSP00000288466:T459P	T	+	1	0	ZNF618	115851057	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	6.913000	0.75759	2.030000	0.59900	0.459000	0.35465	ACC	.		0.587	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
LAS1L	81887	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	64749564	64749564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:64749564C>A	ENST00000374811.3	-	5	749	c.709G>T	c.(709-711)Gag>Tag	p.E237*	LAS1L_ENST00000312391.8_Nonsense_Mutation_p.E237*|LAS1L_ENST00000374807.5_Nonsense_Mutation_p.E237*|LAS1L_ENST00000374804.5_Nonsense_Mutation_p.E195*	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	237					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ACATCTGACTCCGTACTTTTC	0.453																																					p.E237X		.											.	LAS1L-196	0			c.G709T						.						219.0	177.0	191.0					X																	64749564		2203	4300	6503	SO:0001587	stop_gained	81887	exon5			CTGACTCCGTACT	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.709G>T	X.37:g.64749564C>A	ENSP00000363944:p.Glu237*	Somatic	235	0		WXS	Illumina HiSeq	Phase_I	218	75	NM_031206	0	0	6	7	1	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Nonsense_Mutation	SNP	ENST00000374811.3	37	CCDS14381.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.371792	0.42003	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804;ENST00000312391	.	.	.	5.18	4.29	0.51040	.	0.478134	0.21197	N	0.078537	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	10.8918	0.47000	0.0:0.8136:0.1864:0.0	.	.	.	.	X	237;237;195;237	.	ENSP00000308649:E237X	E	-	1	0	LAS1L	64666289	0.369000	0.25039	0.062000	0.19696	0.007000	0.05969	1.842000	0.39250	1.194000	0.43101	0.600000	0.82982	GAG	.		0.453	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206	
KIF4A	24137	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	69637856	69637856	+	Splice_Site	SNP	T	T	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:69637856T>C	ENST00000374403.3	+	29	3454		c.e29+2			NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A						anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CAAGGCAAGGTAGGATCAGGG	0.537																																					.		.											.	KIF4A-134	0			c.3372+2T>C						.						139.0	96.0	111.0					X																	69637856		2203	4300	6503	SO:0001630	splice_region_variant	24137	exon29			GCAAGGTAGGATC	AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.3372+2T>C	X.37:g.69637856T>C		Somatic	134	0		WXS	Illumina HiSeq	Phase_I	115	44	NM_012310	0	0	0	0	0	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Splice_Site	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	t	12.71	2.020554	0.35606	.	.	ENSG00000090889	ENST00000374403;ENST00000544650	.	.	.	5.3	4.14	0.48551	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5846	0.27985	0.0:0.0:0.2369:0.7631	.	.	.	.	.	-1	.	.	.	+	.	.	KIF4A	69554581	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	2.056000	0.41355	1.974000	0.57490	0.427000	0.28365	.	.		0.537	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	Intron
SLITRK2	84631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	144904633	144904633	+	Missense_Mutation	SNP	G	G	C			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:144904633G>C	ENST00000370490.1	+	1	4945	c.690G>C	c.(688-690)tgG>tgC	p.W230C	SLITRK2_ENST00000434188.2_Missense_Mutation_p.W230C|SLITRK2_ENST00000413937.2_Missense_Mutation_p.W230C|SLITRK2_ENST00000428560.2_Missense_Mutation_p.W230C|SLITRK2_ENST00000447897.2_Missense_Mutation_p.W230C			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	230	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGCCTGGCTAGACACCA	0.488																																					p.W230C		.											.	SLITRK2-136	0			c.G690C						.						117.0	108.0	111.0					X																	144904633		2203	4300	6503	SO:0001583	missense	84631	exon5			GGCCTGGCTAGAC	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.690G>C	X.37:g.144904633G>C	ENSP00000359521:p.Trp230Cys	Somatic	188	0		WXS	Illumina HiSeq	Phase_I	171	36	NM_001144005	0	0	0	0	0	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162254	0.57368	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.56275	0.47;0.47;0.47;0.47;0.47;0.47	5.0	5.0	0.66597	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81917	0.4924	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88509	0.3088	10	0.87932	D	0	-4.6604	14.7267	0.69349	0.0:0.0:1.0:0.0	.	230	Q9H156	SLIK2_HUMAN	C	230	ENSP00000334374:W230C;ENSP00000411681:W230C;ENSP00000359521:W230C;ENSP00000397015:W230C;ENSP00000407347:W230C;ENSP00000412010:W230C	ENSP00000334374:W230C	W	+	3	0	SLITRK2	144712325	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	9.869000	0.99810	2.058000	0.61347	0.600000	0.82982	TGG	.		0.488	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
OPN1MW2	728458	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	X	153496172	153496172	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:153496172C>A	ENST00000369929.4	+	5	960	c.900C>A	c.(898-900)caC>caA	p.H300Q		NM_001048181.2	NP_001041646.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive 2	300					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction, visible light (GO:0007603)|positive regulation of cytokinesis (GO:0032467)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCCTTCCACCCTTTGATGG	0.557																																					p.H300Q		.											.	.	0			c.C900A						.						143.0	103.0	117.0					X																	153496172		2102	3797	5899	SO:0001583	missense	728458	exon5			CTTCCACCCTTTG		CCDS35447.1	Xq28	2012-08-08			ENSG00000166160	ENSG00000166160		"""GPCR / Class A : Opsin receptors"""	26952	protein-coding gene	gene with protein product							Standard	NM_001048181		Approved			P04001	OTTHUMG00000024231	ENST00000369929.4:c.900C>A	X.37:g.153496172C>A	ENSP00000358945:p.His300Gln	Somatic	253	1		WXS	Illumina HiSeq	Phase_I	263	134	NM_001048181	0	0	0	0	0		Missense_Mutation	SNP	ENST00000369929.4	37	CCDS35447.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749853	0.49257	.	.	ENSG00000166160	ENST00000369929	T	0.37058	1.22	2.81	2.81	0.32909	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	T	0.49143	-0.8970	7	0.51188	T	0.08	.	12.0191	0.53333	0.0:1.0:0.0:0.0	.	.	.	.	Q	300	ENSP00000358945:H300Q	ENSP00000358945:H300Q	H	+	3	2	OPN1MW2	153149366	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	0.850000	0.27737	1.263000	0.44181	0.407000	0.27541	CAC	.		0.557	OPN1MW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061149.2	NM_001048181	
NCAPD3	23310	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	134038822	134038822	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr11:134038822delG	ENST00000534548.2	-	25	3293	c.3229delC	c.(3229-3231)cagfs	p.Q1077fs		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1077					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTCTCTGACTGGGGGAACTTG	0.443																																					p.Q1077fs		.											.	NCAPD3-229	0			c.3229delC						.						115.0	107.0	110.0					11																	134038822		2201	4297	6498	SO:0001589	frameshift_variant	23310	exon25			.	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3229delC	11.37:g.134038822delG	ENSP00000433681:p.Gln1077fs	Somatic	110	0		WXS	Illumina HiSeq	Phase_I	91	35	NM_015261	0	0	0	0	0	A6NFS2|Q4KMQ9	Frame_Shift_Del	DEL	ENST00000534548.2	37	CCDS31723.1																																																																																			.		0.443	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261	
MGA	23269	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	15	42041819	42041837	+	Frame_Shift_Del	DEL	CTAATGTAATAAAACAAAA	CTAATGTAATAAAACAAAA	-	rs373448335		TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	CTAATGTAATAAAACAAAA	CTAATGTAATAAAACAAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr15:42041819_42041837delCTAATGTAATAAAACAAAA	ENST00000570161.1	+	16	6014_6032	c.6014_6032delCTAATGTAATAAAACAAAA	c.(6013-6033)gctaatgtaataaaacaaaacfs	p.ANVIKQN2005fs	MGA_ENST00000566586.1_Frame_Shift_Del_p.ANVIKQN1796fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.ANVIKQN2005fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.ANVIKQN1796fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.ANVIKQN1966fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCCTGAGGCTAATGTAATAAAACAAAACTCAGGAGCT	0.416																																					p.2005_2011del		.											.	MGA-522	0			c.6014_6032del						.																																			SO:0001589	frameshift_variant	23269	exon17			.	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6014_6032delCTAATGTAATAAAACAAAA	15.37:g.42041819_42041837delCTAATGTAATAAAACAAAA	ENSP00000457035:p.Ala2005fs	Somatic	153	0		WXS	Illumina HiSeq	Phase_I	111	24	NM_001164273	0	0	0	0	0	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	CCDS55959.1																																																																																			.		0.416	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
ZNF564	163050	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	19	12639496	12639497	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	AG	AG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr19:12639496_12639497delAG	ENST00000339282.7	-	2	213_214	c.17_18delCT	c.(16-18)tctfs	p.S6fs	CTD-2192J16.21_ENST00000601420.1_RNA|ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1	Q8TBZ8	ZN564_HUMAN	zinc finger protein 564	6	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CCACATCCTCAGAGGCCACTGA	0.45																																					p.6_6del		.											.	ZNF564-91	0			c.17_18del						.																																			SO:0001589	frameshift_variant	163050	exon2			.	BC028367	CCDS42505.1	19p13.2	2013-09-19			ENSG00000249709	ENSG00000249709		"""Zinc fingers, C2H2-type"", ""-"""	31106	protein-coding gene	gene with protein product							Standard	NM_144976		Approved	MGC26914		Q8TBZ8	OTTHUMG00000156418	ENST00000339282.7:c.17_18delCT	19.37:g.12639498_12639499delAG	ENSP00000340004:p.Ser6fs	Somatic	140	0		WXS	Illumina HiSeq	Phase_I	146	54	NM_144976	0	0	0	0	0	B9EGT4|Q6P1K6	Frame_Shift_Del	DEL	ENST00000339282.7	37	CCDS42505.1																																																																																			.		0.450	ZNF564-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344120.2	NM_144976	
SETD2	29072	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	47164114	47164114	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr3:47164114delA	ENST00000409792.3	-	3	2054	c.2012delT	c.(2011-2013)ttafs	p.L671fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	671					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATTTATATTTAATTCTATGGG	0.328			"""N, F, S, Mis"""		clear cell renal carcinoma																																p.L671X		.		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	.	SETD2-1273	0			c.2012delT						.						58.0	63.0	61.0					3																	47164114		2203	4299	6502	SO:0001589	frameshift_variant	29072	exon3			.	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2012delT	3.37:g.47164114delA	ENSP00000386759:p.Leu671fs	Somatic	102	0		WXS	Illumina HiSeq	Phase_I	85	70	NM_014159	0	0	0	0	0	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	DEL	ENST00000409792.3	37	CCDS2749.2																																																																																			.		0.328	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159	
VCPIP1	80124	hgsc.bcm.edu	37	8	67578598	67578621	+	In_Frame_Del	DEL	TTAATGTCCTCCAGAGTGTCATGC	TTAATGTCCTCCAGAGTGTCATGC	-			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	TTAATGTCCTCCAGAGTGTCATGC	TTAATGTCCTCCAGAGTGTCATGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr8:67578598_67578621delTTAATGTCCTCCAGAGTGTCATGC	ENST00000310421.4	-	1	831_854	c.573_596delGCATGACACTCTGGAGGACATTAA	c.(571-597)ttgcatgacactctggaggacattaag>ttg	p.HDTLEDIK192del	C8orf44_ENST00000521889.1_5'Flank|C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	192					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.D193N(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTGGCCCGCTTAATGTCCTCCAGAGTGTCATGCAAATACAGGA	0.549																																					p.191_199del	NSCLC(179;265 2915 6144 43644)	.											.	VCPIP1-662	1	Substitution - Missense(1)	lung(1)	c.573_596del						.																																			SO:0001651	inframe_deletion	80124	exon1			.	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.573_596delGCATGACACTCTGGAGGACATTAA	8.37:g.67578598_67578621delTTAATGTCCTCCAGAGTGTCATGC	ENSP00000309031:p.His192_Lys199del	Somatic	175	0		WXS	Illumina HiSeq	Phase_I	121	21	NM_025054	0	0	0	0	0	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	In_Frame_Del	DEL	ENST00000310421.4	37	CCDS6192.1																																																																																			.		0.549	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1		
ASPM	259266	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	197073973	197073974	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr1:197073973_197073974insA	ENST00000367409.4	-	18	4663_4664	c.4407_4408insT	c.(4405-4410)attatcfs	p.I1470fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1470					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GATTGTATGATAATAGCAGAAT	0.292																																					p.I1470fs		.											.	ASPM-615	0			c.4408_4409insT						.																																			SO:0001589	frameshift_variant	259266	exon18			.	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.4408dupT	1.37:g.197073975_197073975dupA	ENSP00000356379:p.Ile1470fs	Somatic	69	0		WXS	Illumina HiSeq	Phase_I	58	45	NM_018136	0	0	0	0	0	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	ENST00000367409.4	37	CCDS1389.1																																																																																			.		0.292	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
ANKRD26	22852	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	27349330	27349331	+	In_Frame_Ins	INS	-	-	TCA			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr10:27349330_27349331insTCA	ENST00000376087.4	-	15	1672_1673	c.1507_1508insTGA	c.(1507-1509)aaa>aTGAaa	p.502_503insM	ANKRD26_ENST00000436985.2_In_Frame_Ins_p.518_519insM	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	502					glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AACAGAATCTTTCATTTCAATG	0.277																																					p.K503delinsMK		.											.	ANKRD26-138	0			c.1508_1509insTGA						.																																			SO:0001652	inframe_insertion	22852	exon15			.	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1505_1507dupTGA	10.37:g.27349331_27349333dupTCA	ENSP00000365255:p.Met502_Met502dup	Somatic	171	0		WXS	Illumina HiSeq	Phase_I	143	44	NM_001256053	0	0	0	0	0	A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	In_Frame_Ins	INS	ENST00000376087.4	37	CCDS41499.1																																																																																			.		0.277	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1		
C16orf62	57020	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	16	19711796	19711797	+	Stop_Codon_Ins	INS	-	-	G			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr16:19711796_19711797insG	ENST00000251143.5	+	0	2902_2903				C16orf62_ENST00000543152.1_Stop_Codon_Ins|C16orf62_ENST00000542263.1_Stop_Codon_Ins|C16orf62_ENST00000438132.3_Stop_Codon_Ins|C16orf62_ENST00000417362.2_Stop_Codon_Ins|C16orf62_ENST00000448695.1_Stop_Codon_Ins			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						AACAAGGACCTGACCCCCGGGC	0.51																																					p.X1053delinsW		.											.	C16orf62-69	0			c.3157_3158insG						.																																			SO:0001567	stop_retained_variant	57020	exon31			.		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.2890dupG	16.37:g.19711797_19711797dupG	ENSP00000251143:p.*964Trpext*54	Somatic	99	0		WXS	Illumina HiSeq	Phase_I	85	28	NM_020314	0	0	0	0	0	A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	INS	ENST00000251143.5	37																																																																																				.		0.510	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_020314	
PDE7B	27115	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	136512787	136512788	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr6:136512787_136512788insA	ENST00000308191.6	+	13	1465_1466	c.1162_1163insA	c.(1162-1164)gaafs	p.E388fs	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	388	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)	p.E388*(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GCTCTTCCGGGAATGGGCCCAT	0.589																																					p.E388fs		.											.	PDE7B-91	1	Substitution - Nonsense(1)	lung(1)	c.1162_1163insA						.																																			SO:0001589	frameshift_variant	27115	exon13			.	AB038040	CCDS5175.1	6q23-q24	2008-03-18			ENSG00000171408	ENSG00000171408	3.1.4.17	"""Phosphodiesterases"""	8792	protein-coding gene	gene with protein product		604645				10618442	Standard	XM_005266931		Approved		uc003qgp.3	Q9NP56	OTTHUMG00000015641	ENST00000308191.6:c.1164dupA	6.37:g.136512789_136512789dupA	ENSP00000310661:p.Glu388fs	Somatic	38	0		WXS	Illumina HiSeq	Phase_I	35	12	NM_018945	0	0	0	0	0	Q5W154	Frame_Shift_Ins	INS	ENST00000308191.6	37	CCDS5175.1																																																																																			.		0.589	PDE7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042371.1		
ZFHX4	79776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	77617295	77617296	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chr8:77617295_77617296GA>TT	ENST00000521891.2	+	2	1420_1421	c.972_973GA>TT	c.(970-975)ggGAtt>ggTTtt	p.I325F	ZFHX4_ENST00000050961.6_Missense_Mutation_p.I325F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.I325F|ZFHX4_ENST00000455469.2_Missense_Mutation_p.I325F|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G324G(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TAATACAGGGGATTGGCAAAGA	0.441										HNSCC(33;0.089)																											p.I325F		.											.	ZFHX4	1	Substitution - coding silent(1)	lung(1)	c.A973T						.																																			SO:0001583	missense	79776	exon2			CAGGGGATTGGCA		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	Exception_encountered	8.37:g.77617295_77617296delinsTT	ENSP00000430497:p.Ile325Phe	Somatic	142.0	0.0		WXS	Illumina HiSeq	Phase_I	161.0	63.0		0	0	0	0	0	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	DNP	ENST00000521891.2	37	CCDS47878.2																																																																																			.		0.441	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
GSPT2	23708	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	51486959	51486960	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:51486959_51486960GC>TT	ENST00000340438.4	+	1	479_480	c.237_238GC>TT	c.(235-240)ccGCcc>ccTTcc	p.P80S		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	80					cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CGACTCAGCCGCCCACCCTCCC	0.658																																					p.P80S		.											.	GSPT2	0			c.C238T						.																																			SO:0001583	missense	23708	exon1			CAGCCGCCCACCC	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	Exception_encountered	X.37:g.51486959_51486960delinsTT	ENSP00000341247:p.Pro80Ser	Somatic	20.0	0.0		WXS	Illumina HiSeq	Phase_I	28.0	9.0		0	0	0	0	0	Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	DNP	ENST00000340438.4	37	CCDS14336.1																																																																																			.		0.658	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1		
SLITRK2	84631	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	144904634	144904635	+	Nonsense_Mutation	DNP	CT	CT	TA			TCGA-BQ-7061-01A-11D-1961-08	TCGA-BQ-7061-11A-01D-1961-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	ae48a526-0daa-42b6-b98e-1453e9dc631a	4968c132-2d26-4a31-ab07-6d7c154551de	g.chrX:144904634_144904635CT>TA	ENST00000370490.1	+	1	4946_4947	c.691_692CT>TA	c.(691-693)CTa>TAa	p.L231*	SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.L231*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.L231*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.L231*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.L231*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	231	LRRCT 1.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCCTGGCTAGACACCATA	0.49																																					p.L231*		.											.	SLITRK2	0			c.T692A						.																																			SO:0001587	stop_gained	84631	exon5			CCTGGCTAGACAC	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	Exception_encountered	X.37:g.144904634_144904635delinsTA	ENSP00000359521:p.Leu231*	Somatic	187.0	1.0		WXS	Illumina HiSeq	Phase_I	173.0	37.0		0	0	0	0	0	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Nonsense_Mutation	DNP	ENST00000370490.1	37	CCDS14680.1																																																																																			.		0.490	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
