#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IGV	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	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_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
GON4L	54856	mdanderson.org	37	1	155721600	155721600	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr1:155721600G>T	ENST00000368331.1	-	31	6582	c.6534C>A	c.(6532-6534)ttC>ttA	p.F2178L	GON4L_ENST00000271883.5_Missense_Mutation_p.F2177L|GON4L_ENST00000437809.1_Missense_Mutation_p.F2177L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2178	Myb-like. {ECO:0000255|PROSITE- ProRule:PRU00133}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGATGATGTTGAAGGTCTGTG	0.547																																					p.F2177L													GON4L_ENST00000437809,lower_third,carcinoma,0,2	GON4L_ENST00000437809	0	2	0			c.C6531A												77.0	70.0	73.0					1																	155721600		1997	4170	6167	SO:0001583	missense	54856	exon31			GATGTTGAAGGTC	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.6534C>A	1.37:g.155721600G>T	ENSP00000357315:p.Phe2178Leu		73	0	0		81	0.05	4	NM_001037533	153	0.00	0	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37		.	.	.	.	.	.	.	.	.	.	G	14.41	2.526706	0.44969	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.30448	1.53;1.53;1.53	4.97	-6.4	0.01944	SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);MYB-like (1);	0.000000	0.85682	D	0.000000	T	0.33585	0.0868	M	0.73217	2.22	0.25095	N	0.990826	D;D	0.61697	0.982;0.99	D;D	0.72982	0.952;0.979	T	0.52953	-0.8506	10	0.54805	T	0.06	.	16.2951	0.82767	0.7166:0.0:0.2834:0.0	.	2178;2177	Q3T8J9;Q3T8J9-3	GON4L_HUMAN;.	L	2177;2178;2177	ENSP00000396117:F2177L;ENSP00000357315:F2178L;ENSP00000271883:F2177L	ENSP00000271883:F2177L	F	-	3	2	GON4L	153988224	0.002000	0.14202	0.001000	0.08648	0.314000	0.28054	-0.074000	0.11450	-1.610000	0.01583	-0.149000	0.13747	TTC			0.547	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_032292	
PCP4L1	654790	broad.mit.edu	37	1	161254255	161254255	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr1:161254255A>G	ENST00000504449.1	+	3	439	c.191A>G	c.(190-192)aAg>aGg	p.K64R		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	64	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAAAGGAAAAAGGATCCCAGC	0.517																																					p.K64R													.	PCP4L1	7		0			c.A191G												57.0	59.0	58.0					1																	161254255		1944	4137	6081	SO:0001583	missense	654790	exon3			GGAAAAAGGATCC	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.191A>G	1.37:g.161254255A>G	ENSP00000426296:p.Lys64Arg		396	0	0		392	0.01	5	NM_001102566	5	0.00	0	B2RV24|B9EJG4	Missense_Mutation	SNP	ENST00000504449.1	37	CCDS53412.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287629	0.59976	.	.	ENSG00000248485	ENST00000504449	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.49047	0.1534	.	.	.	.	.	.	D	0.58268	0.982	P	0.58013	0.831	T	0.54221	-0.8326	7	0.33940	T	0.23	.	9.2707	0.37670	0.8184:0.1816:0.0:0.0	.	64	A6NKN8	PC4L1_HUMAN	R	64	.	ENSP00000426296:K64R	K	+	2	0	PCP4L1	159520879	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.674000	0.61612	2.200000	0.70718	0.459000	0.35465	AAG			0.517	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000082986.2			
NMT2	9397	mdanderson.org	37	10	15210531	15210531	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr10:15210531G>T	ENST00000378165.4	-	1	161	c.81C>A	c.(79-81)gaC>gaA	p.D27E	NMT2_ENST00000378150.1_5'UTR|NMT2_ENST00000535341.1_5'Flank	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	27					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						CCTCCTCATTGTCCCCGTCTA	0.736																																					p.D27E	Melanoma(117;1345 1645 4130 12688 30625)												.	.			0			c.C81A												81.0	81.0	81.0					10																	15210531		2203	4300	6503	SO:0001583	missense	9397	exon1			CTCATTGTCCCCG	AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.81C>A	10.37:g.15210531G>T	ENSP00000367407:p.Asp27Glu		44	0	0		43	0.09	4	NM_004808	15	0.00	0	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	ENST00000378165.4	37	CCDS7109.1	.	.	.	.	.	.	.	.	.	.	g	3.973	-0.007907	0.07773	.	.	ENSG00000152465	ENST00000378165;ENST00000378143	T	0.40476	1.03	2.77	2.77	0.32553	.	0.227863	0.37483	U	0.002067	T	0.19087	0.0458	N	0.14661	0.345	0.80722	D	1	B;B	0.15719	0.001;0.014	B;B	0.10450	0.002;0.005	T	0.11941	-1.0567	10	0.02654	T	1	.	7.9412	0.29959	0.1224:0.0:0.8775:0.0	.	27;27	B2RCF3;O60551	.;NMT2_HUMAN	E	27	ENSP00000367407:D27E	ENSP00000367385:D27E	D	-	3	2	NMT2	15250537	1.000000	0.71417	0.149000	0.22428	0.013000	0.08279	4.420000	0.59841	1.561000	0.49584	0.531000	0.56144	GAC			0.736	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046958.2		NM_004808	
IFIT3	3437	mdanderson.org	37	10	91098885	91098885	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr10:91098885G>T	ENST00000371818.4	+	2	653	c.473G>T	c.(472-474)tGt>tTt	p.C158F	IFIT3_ENST00000371811.4_Missense_Mutation_p.C158F|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	158					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						GCGAAGGTGTGTTTTGAGAAG	0.433																																					p.C158F													.	.			0			c.G473T												77.0	86.0	83.0					10																	91098885		2203	4300	6503	SO:0001583	missense	3437	exon2			AGGTGTGTTTTGA	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.473G>T	10.37:g.91098885G>T	ENSP00000360883:p.Cys158Phe		45	0	0		36	0.08	3	NM_001031683	57	0.00	0	Q99634|Q9BSK7	Missense_Mutation	SNP	ENST00000371818.4	37	CCDS7402.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193041	0.58017	.	.	ENSG00000119917	ENST00000371818;ENST00000371811	T;T	0.65178	-0.14;-0.14	4.48	2.63	0.31362	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.159566	0.56097	D	0.000023	T	0.76955	0.4060	M	0.84326	2.69	0.49915	D	0.999835	D	0.71674	0.998	D	0.68943	0.961	T	0.78927	-0.2011	10	0.87932	D	0	-2.2696	10.4609	0.44578	0.1613:0.0:0.8387:0.0	.	158	O14879	IFIT3_HUMAN	F	158	ENSP00000360883:C158F;ENSP00000360876:C158F	ENSP00000360876:C158F	C	+	2	0	IFIT3	91088865	0.721000	0.28007	0.839000	0.33178	0.997000	0.91878	1.087000	0.30865	0.835000	0.34877	0.655000	0.94253	TGT			0.433	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049294.1		NM_001549	
DOCK1	1793	mdanderson.org	37	10	129249688	129249688	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr10:129249688G>T	ENST00000280333.6	+	52	5704	c.5595G>T	c.(5593-5595)caG>caT	p.Q1865H		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1865					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGATCGTGCAGTGACGTCGCA	0.582																																					p.Q1865H													.	.			0			c.G5595T												38.0	46.0	44.0					10																	129249688		2099	4224	6323	SO:0001583	missense	1793	exon52			CGTGCAGTGACGT	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.5595G>T	10.37:g.129249688G>T	ENSP00000280333:p.Gln1865His		25	0	0		41	0.07	3	NM_001380	26	0.00	0	A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.422866	0.83559	.	.	ENSG00000150760	ENST00000280333	T	0.04015	3.73	5.18	5.18	0.71444	.	0.071672	0.56097	D	0.000021	T	0.10594	0.0259	N	0.19112	0.55	0.46458	D	0.999058	D;D	0.61080	0.989;0.989	D;D	0.64237	0.923;0.923	T	0.12604	-1.0541	10	0.87932	D	0	.	15.6337	0.76933	0.0:0.0:1.0:0.0	.	1865;1865	B2RUU3;Q14185	.;DOCK1_HUMAN	H	1865	ENSP00000280333:Q1865H	ENSP00000280333:Q1865H	Q	+	3	2	DOCK1	129139678	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.718000	0.84743	2.418000	0.82041	0.655000	0.94253	CAG			0.582	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000050979.2		NM_001380	
TSPAN4	7106	mdanderson.org	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																					p.L92V													TSPAN4,NS,carcinoma,0,1	TSPAN4	0	1	0			c.C274G												98.0	95.0	96.0					11																	864455		2203	4299	6502	SO:0001583	missense	7106	exon5			CTGCTGCTGGTGT	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val		40	0	0		42	0.07	3	NM_001025237	112	0.01	1	Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG			0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257102.2			
MUC6	4588	mdanderson.org	37	11	1029349	1029349	+	Missense_Mutation	SNP	C	C	T	rs201771202	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:1029349C>T	ENST00000421673.2	-	10	1204	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	385					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCACACCCAGCGGCCCAGGGT	0.701													c|||	2	0.000399361	0.0	0.0	5008	,	,		13434	0.0		0.002	False		,,,				2504	0.0				p.R385H													.	.			0			c.G1154A							C	HIS/ARG	0,4014		0,0,2007	11.0	12.0	12.0		1154	-2.1	0.7	11		12	5,8281		0,5,4138	no	missense	MUC6	NM_005961.2	29	0,5,6145	TT,TC,CC		0.0603,0.0,0.0407	benign	385/2440	1029349	5,12295	2007	4143	6150	SO:0001583	missense	4588	exon10			ACCCAGCGGCCCA	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.1154G>A	11.37:g.1029349C>T	ENSP00000406861:p.Arg385His		48	0	0		25	0.08	2	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050256	0.36181	0.0	6.03E-4	ENSG00000184956	ENST00000421673	T	0.65732	-0.17	4.56	-2.08	0.07254	.	1.440410	0.05477	N	0.554187	T	0.41743	0.1172	N	0.16790	0.44	0.26569	N	0.973594	B	0.16396	0.017	B	0.06405	0.002	T	0.20538	-1.0272	10	0.32370	T	0.25	.	5.9367	0.19169	0.136:0.2861:0.0:0.578	.	385	Q6W4X9	MUC6_HUMAN	H	385	ENSP00000406861:R385H	ENSP00000406861:R385H	R	-	2	0	MUC6	1019349	0.007000	0.16637	0.711000	0.30485	0.104000	0.19210	-0.102000	0.10956	-0.311000	0.08754	0.313000	0.20887	CGC			0.701	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540	
MRGPRF	116535	mdanderson.org	37	11	68773371	68773371	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:68773371G>T	ENST00000309099.6	-	3	789	c.407C>A	c.(406-408)gCc>gAc	p.A136D	MRGPRF_ENST00000441623.1_Missense_Mutation_p.A136D|RP11-554A11.5_ENST00000562506.1_RNA	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	136						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGCGCTGACGGCCGGCAGGAG	0.711																																					p.A136D													.	.			0			c.C407A												13.0	15.0	14.0					11																	68773371		2163	4235	6398	SO:0001583	missense	116535	exon3			CTGACGGCCGGCA	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.407C>A	11.37:g.68773371G>T	ENSP00000309782:p.Ala136Asp		30	0	0		17	0.12	2	NM_001098515	8	0.00	0	B3KV43|Q8NBK8	Missense_Mutation	SNP	ENST00000309099.6	37	CCDS8188.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.204644	0.58234	.	.	ENSG00000172935	ENST00000441623;ENST00000309099;ENST00000421543	T;T	0.46451	0.87;0.87	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000440	T	0.68586	0.3017	M	0.88450	2.955	0.35706	D	0.816025	D	0.71674	0.998	D	0.77557	0.99	T	0.80756	-0.1240	10	0.87932	D	0	-39.4789	13.5118	0.61517	0.0:0.0:1.0:0.0	.	136	Q96AM1	MRGRF_HUMAN	D	136;136;108	ENSP00000403660:A136D;ENSP00000309782:A136D	ENSP00000309782:A136D	A	-	2	0	MRGPRF	68529947	0.940000	0.31905	0.988000	0.46212	0.307000	0.27823	2.953000	0.49105	2.248000	0.74166	0.561000	0.74099	GCC			0.711	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396875.1		NM_145015	
GAB2	9846	ucsc.edu;bcgsc.ca	37	11	77938073	77938073	+	Silent	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:77938073G>T	ENST00000361507.4	-	4	730	c.645C>A	c.(643-645)acC>acA	p.T215T	GAB2_ENST00000340149.2_Silent_p.T177T|GAB2_ENST00000526030.1_5'UTR	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	215					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			AAGAGGCTCTGGTGCCCTGAG	0.502																																					p.T215T													.	GAB2	63		0			c.C645A												46.0	42.0	43.0					11																	77938073		2200	4292	6492	SO:0001819	synonymous_variant	9846	exon4			GGCTCTGGTGCCC	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.645C>A	11.37:g.77938073G>T			49	0	0		24	0.17	4	NM_080491	1	0.00	0	A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	CCDS8259.1																																																																																					0.502	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391085.1		NM_080491	
ERC1	23085	broad.mit.edu	37	12	1292505	1292505	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr12:1292505A>G	ENST00000397203.2	+	11	2481	c.2075A>G	c.(2074-2076)aAg>aGg	p.K692R	ERC1_ENST00000355446.5_Missense_Mutation_p.K692R|ERC1_ENST00000543086.3_Missense_Mutation_p.K664R|ERC1_ENST00000360905.4_Missense_Mutation_p.K692R|ERC1_ENST00000546231.2_Missense_Mutation_p.K692R|ERC1_ENST00000589028.1_Missense_Mutation_p.K692R|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	692					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGACTGAAAAAGGACTCACGG	0.363																																					p.K692R													.	ERC1	95		0			c.A2075G												89.0	88.0	89.0					12																	1292505		2203	4300	6503	SO:0001583	missense	23085	exon11			TGAAAAAGGACTC	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.2075A>G	12.37:g.1292505A>G	ENSP00000380386:p.Lys692Arg		382	0.0052356021	2		737	0.01	7	NM_178040	48	0.00	0	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455744	0.26161	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000299183;ENST00000543086;ENST00000542302;ENST00000545948;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971;ENST00000536573	T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.37	5.37	0.77165	.	0.093551	0.64402	D	0.000001	T	0.35595	0.0937	L	0.42686	1.345	0.80722	D	1	B;B;B;B;B	0.16166	0.002;0.016;0.003;0.003;0.001	B;B;B;B;B	0.19666	0.011;0.026;0.008;0.008;0.008	T	0.16041	-1.0416	10	0.11485	T	0.65	-32.4174	15.6887	0.77434	1.0:0.0:0.0:0.0	.	440;332;664;664;692	F5H327;F5GZU8;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;.;RB6I2_HUMAN	R	664;692;664;664;392;664;664;392;692;692;692;664;440;332	ENSP00000340054:K664R;ENSP00000380386:K692R;ENSP00000438546:K664R;ENSP00000442976:K392R;ENSP00000442739:K692R;ENSP00000347621:K692R;ENSP00000354158:K692R;ENSP00000410064:K664R	ENSP00000299183:K392R	K	+	2	0	ERC1	1162766	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.281000	0.72632	2.170000	0.68504	0.460000	0.39030	AAG			0.363	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398380.2		NM_015064	
ASUN	55726	broad.mit.edu	37	12	27066606	27066606	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr12:27066606C>T	ENST00000261191.7	-	14	2125	c.1589G>A	c.(1588-1590)cGt>cAt	p.R530H	ASUN_ENST00000539625.1_Missense_Mutation_p.R429H	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	530					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CCACATGATACGGTATTGTTC	0.358																																					p.R530H													.	.			0			c.G1589A												217.0	217.0	217.0					12																	27066606		2203	4300	6503	SO:0001583	missense	55726	exon14			ATGATACGGTATT	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1589G>A	12.37:g.27066606C>T	ENSP00000261191:p.Arg530His		97	0	0		141	0.03	4	NM_018164	250	0.00	0	B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Missense_Mutation	SNP	ENST00000261191.7	37	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011177	0.93346	.	.	ENSG00000064102	ENST00000538155;ENST00000261191;ENST00000539625;ENST00000335745;ENST00000261190	T;T;T	0.65732	-0.17;-0.17;-0.17	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.80014	0.4546	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.87578	0.998;0.757	T	0.82575	-0.0389	10	0.87932	D	0	-16.4079	17.2002	0.86903	0.0:1.0:0.0:0.0	.	530;429	Q9NVM9;B4DNK1	M89BB_HUMAN;.	H	177;530;429;117;27	ENSP00000445645:R177H;ENSP00000261191:R530H;ENSP00000443724:R429H	ENSP00000261190:R27H	R	-	2	0	C12orf11	26957873	1.000000	0.71417	0.984000	0.44739	0.985000	0.73830	7.490000	0.81461	2.544000	0.85801	0.591000	0.81541	CGT			0.358	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402819.1		NM_018164	
C12orf42	374470	mdanderson.org	37	12	103696285	103696285	+	Silent	SNP	C	C	T	rs180791755		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr12:103696285C>T	ENST00000378113.2	-	6	909	c.684G>A	c.(682-684)acG>acA	p.T228T	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Silent_p.T228T|C12orf42_ENST00000548048.1_Silent_p.T161T	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	228										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GAGCGCCGGGCGTCTGGCTCC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		13275	0.0		0.001	False		,,,				2504	0.0				p.T228T													.	.			0			c.G684A												30.0	35.0	33.0					12																	103696285		1953	4148	6101	SO:0001819	synonymous_variant	374470	exon6			GCCGGGCGTCTGG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.684G>A	12.37:g.103696285C>T			32	0	0		50	0.06	3	NM_001099336	1	0.00	0	Q49A64|Q4G0S2	Silent	SNP	ENST00000378113.2	37	CCDS44963.1																																																																																			0		0.652	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406754.1		NM_198521	
RP11-556N21.1	0	broad.mit.edu	37	13	25141399	25141399	+	RNA	DEL	T	T	-			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr13:25141399delT	ENST00000453498.1	+	0	28																											TCTAATTGGCttttttttttt	0.423																																					.													.	.			0			.																																											0	.			ATTGGCTTTTTTT																													13.37:g.25141399delT			9	0	0		8	0.38	3	.	0		0		RNA	DEL	ENST00000453498.1	37																																																																																						0.423	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript		OTTHUMT00000044193.1			
PCDH8	5100	mdanderson.org	37	13	53420974	53420974	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr13:53420974G>T	ENST00000377942.3	-	1	1801	c.1598C>A	c.(1597-1599)aCc>aAc	p.T533N	PCDH8_ENST00000338862.4_Missense_Mutation_p.T533N	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CAGCCGGTAGGTGACCTGGCC	0.726																																					p.T533N	GBM(36;25 841 9273 49207)												.	.			0			c.C1598A												3.0	3.0	3.0					13																	53420974		1751	3641	5392	SO:0001583	missense	5100	exon1			CGGTAGGTGACCT	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.1598C>A	13.37:g.53420974G>T	ENSP00000367177:p.Thr533Asn		32	0	0		17	0.12	2	NM_002590	0		0	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085931	0.36758	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000448969	T;T	0.53206	0.63;0.63	4.33	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.000000	0.44097	D	0.000497	T	0.48696	0.1514	M	0.65677	2.01	0.39604	D	0.969771	B;P	0.38677	0.415;0.642	B;B	0.41135	0.142;0.348	T	0.58244	-0.7670	10	0.87932	D	0	.	10.6394	0.45584	0.089:0.0:0.911:0.0	.	533;533	O95206-2;O95206	.;PCDH8_HUMAN	N	533;533;376	ENSP00000367177:T533N;ENSP00000341350:T533N	ENSP00000341350:T533N	T	-	2	0	PCDH8	52318975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.253000	0.43205	2.227000	0.72691	0.561000	0.74099	ACC			0.726	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000045108.2		NM_002590	
PAPLN	89932	mdanderson.org	37	14	73717653	73717653	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr14:73717653G>T	ENST00000554301.1	+	6	667	c.504G>T	c.(502-504)caG>caT	p.Q168H	PAPLN_ENST00000381166.3_Missense_Mutation_p.Q168H|PAPLN_ENST00000555445.1_Missense_Mutation_p.Q168H|PAPLN_ENST00000427855.1_Missense_Mutation_p.Q168H|PAPLN_ENST00000340738.5_Missense_Mutation_p.Q168H			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	168						basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CGTCCAAGCAGGAGGACAAGT	0.647																																					p.Q168H													.	.			0			c.G504T												97.0	80.0	86.0					14																	73717653		2203	4300	6503	SO:0001583	missense	89932	exon7			CAAGCAGGAGGAC	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.504G>T	14.37:g.73717653G>T	ENSP00000451803:p.Gln168His		40	0	0		48	0.06	3	NM_173462	1	0.00	0	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	ENST00000554301.1	37		.	.	.	.	.	.	.	.	.	.	g	19.88	3.910026	0.72983	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000381166;ENST00000554301;ENST00000555445	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	4.48	2.6	0.31112	.	.	.	.	.	T	0.72630	0.3484	L	0.55990	1.75	0.31730	N	0.637176	P;P;D	0.59357	0.606;0.472;0.985	B;B;P	0.58970	0.305;0.161;0.849	T	0.74957	-0.3487	9	0.72032	D	0.01	.	10.4907	0.44750	0.1757:0.0:0.8243:0.0	.	168;168;168	O95428-5;O95428;O95428-6	.;PPN_HUMAN;.	H	168	ENSP00000345395:Q168H;ENSP00000403403:Q168H;ENSP00000370558:Q168H;ENSP00000451803:Q168H;ENSP00000451729:Q168H	ENSP00000216658:Q168H	Q	+	3	2	PAPLN	72787406	1.000000	0.71417	0.998000	0.56505	0.960000	0.62799	3.545000	0.53648	1.207000	0.43291	0.550000	0.68814	CAG			0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000413182.1		NM_173462	
C14orf80	283643	mdanderson.org	37	14	105964251	105964251	+	Silent	SNP	G	G	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr14:105964251G>A	ENST00000392523.4	+	8	1216	c.1095G>A	c.(1093-1095)ctG>ctA	p.L365L	C14orf80_ENST00000392522.3_Silent_p.L296L|C14orf80_ENST00000354560.6_Silent_p.L263L|C14orf80_ENST00000334656.7_Silent_p.L222L|C14orf80_ENST00000329886.7_Silent_p.L224L|C14orf80_ENST00000392527.1_Silent_p.L222L|C14orf80_ENST00000450383.1_Silent_p.L118L|C14orf80_ENST00000551054.1_3'UTR			Q86SX3	CN080_HUMAN	chromosome 14 open reading frame 80	365										central_nervous_system(1)	1		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)		TGCGGGAGCTGCAGGCACTGG	0.736																																					p.L296L													.	.			0			c.G888A												18.0	19.0	19.0					14																	105964251		2111	4171	6282	SO:0001819	synonymous_variant	283643	exon7			GGAGCTGCAGGCA		CCDS45180.1, CCDS45181.1, CCDS45182.1, CCDS55955.1	14q32.33	2012-09-25			ENSG00000185347	ENSG00000185347			20127	protein-coding gene	gene with protein product							Standard	NM_001134875		Approved		uc001yrn.3	Q86SX3	OTTHUMG00000170426	ENST00000392523.4:c.1095G>A	14.37:g.105964251G>A			42	0.0238095238	1		43	0.07	3	NM_001134875	153	0.00	0	B5MDG3|E9PAQ4|Q86TT3|Q86TT4|Q86TT5|Q96B41|Q9H7H4	Silent	SNP	ENST00000392523.4	37																																																																																						0.736	C14orf80-017	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000409090.1		NM_001134875	
NCAPGP2	100421148	bcgsc.ca	37	15	30297909	30297909	+	lincRNA	SNP	G	G	C			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:30297909G>C	ENST00000561392.1	-	0	221																											GGCTTCAGCAGTTGGATGTAG	0.423																																					.													.	.			0			.																																											0	.			TCAGCAGTTGGAT																													15.37:g.30297909G>C			42	0	0		31	0.13	4	.	0		0		RNA	SNP	ENST00000561392.1	37																																																																																						0.423	RP11-143J24.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000417288.1			
RP11-143J24.1	0	broad.mit.edu	37	15	30336794	30336795	+	lincRNA	INS	-	-	C	rs567368701|rs548100798	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:30336794_30336795insC	ENST00000561392.1	-	0	138																											caccccgaggaccccccccgcc	0.787														25	0.00499201	0.0144	0.0029	5008	,	,		6326	0.003		0.001	False		,,,				2504	0.0				.													.	.			0			.																																											0	.			CCGAGGACCCCCC																													15.37:g.30336802_30336802dupC			5	0	0		6	0.33	2	.	0		0		RNA	INS	ENST00000561392.1	37																																																																																						0.787	RP11-143J24.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000417288.1			
SPTBN5	51332	mdanderson.org	37	15	42147796	42147796	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:42147796G>A	ENST00000320955.6	-	54	9396	c.9169C>T	c.(9169-9171)Cgg>Tgg	p.R3057W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3057					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCTGCAGCCGCTCGATGCGT	0.637																																					p.R3022W													.	.			0			c.C9064T												21.0	25.0	24.0					15																	42147796		2047	4187	6234	SO:0001583	missense	51332	exon54			GCAGCCGCTCGAT	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9169C>T	15.37:g.42147796G>A	ENSP00000317790:p.Arg3057Trp		46	0	0		55	0.05	3	NM_016642	5	0.00	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	12.21	1.868156	0.32977	.	.	ENSG00000137877	ENST00000320955	T	0.51574	0.7	4.7	1.41	0.22369	.	0.665566	0.12929	N	0.427500	T	0.60869	0.2302	L	0.59436	1.845	0.27896	N	0.939157	D	0.76494	0.999	D	0.63192	0.912	T	0.56932	-0.7897	10	0.66056	D	0.02	.	12.9225	0.58241	0.0:0.0:0.3882:0.6118	.	3057	Q9NRC6	SPTN5_HUMAN	W	3057	ENSP00000317790:R3057W	ENSP00000317790:R3057W	R	-	1	2	SPTBN5	39935088	0.962000	0.33011	0.084000	0.20598	0.003000	0.03518	0.874000	0.28065	0.091000	0.17302	-0.152000	0.13540	CGG			0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642	
TGM7	116179	broad.mit.edu	37	15	43571977	43571977	+	Silent	SNP	C	C	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:43571977C>A	ENST00000452443.2	-	10	1528	c.1524G>T	c.(1522-1524)ctG>ctT	p.L508L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	508					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TACGCAGCAGCAGCTGCAGGT	0.657																																					p.L508L													TGM7,NS,carcinoma,0,2	TGM7	86	2	0			c.G1524T												38.0	44.0	42.0					15																	43571977		2201	4297	6498	SO:0001819	synonymous_variant	116179	exon10			CAGCAGCAGCTGC	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1524G>T	15.37:g.43571977C>A			41	0.0731707317	3		57	0.11	6	NM_052955	0		0		Silent	SNP	ENST00000452443.2	37	CCDS32213.1																																																																																					0.657	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432489.1		NM_052955	
CLK3	1198	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	15	74911680	74911680	+	Missense_Mutation	SNP	G	G	T	rs183588535	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:74911680G>T	ENST00000395066.3	+	2	1048	c.587G>T	c.(586-588)cGg>cTg	p.R196L	CLK3_ENST00000348245.3_Missense_Mutation_p.R48L|CLK3_ENST00000345005.4_Missense_Mutation_p.R48L|CLK3_ENST00000352989.5_Missense_Mutation_p.R48L	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	196	Arg-rich.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CGAAGATCTCGGTCCAGAAGG	0.572																																					p.R196L	Ovarian(133;694 1754 28950 29027 31859)												.	.			0			c.G587T												100.0	88.0	92.0					15																	74911680		2197	4296	6493	SO:0001583	missense	1198	exon2			GATCTCGGTCCAG	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.587G>T	15.37:g.74911680G>T	ENSP00000378505:p.Arg196Leu		87	0	0		80	0.05	4	NM_001130028	102	0.00	0	D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547314	0.86022	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989;ENST00000348245	T;T	0.51574	0.7;0.7	4.74	4.74	0.60224	.	0.191389	0.36200	N	0.002737	T	0.56001	0.1956	L	0.27053	0.805	0.43435	D	0.9956	D;D;D	0.76494	0.993;0.999;0.978	D;D;P	0.81914	0.982;0.995;0.858	T	0.59225	-0.7494	10	0.56958	D	0.05	.	15.699	0.77528	0.0:0.0:1.0:0.0	.	196;196;48	P49761;B3KRI8;G5E959	CLK3_HUMAN;.;.	L	48;48;196;48;48	ENSP00000344112:R48L;ENSP00000323106:R48L	ENSP00000344112:R48L	R	+	2	0	CLK3	72698733	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	4.576000	0.60915	2.464000	0.83262	0.655000	0.94253	CGG			0.572	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000390442.3			
TTLL13P	440307	mdanderson.org	37	15	90793911	90793911	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr15:90793911G>T	ENST00000561573.1	+	2	313	c.49G>T	c.(49-51)Gag>Tag	p.E17*	TTLL13_ENST00000339615.5_Nonsense_Mutation_p.E17*|TTLL13_ENST00000438251.1_Nonsense_Mutation_p.E17*																							AGACTATGTTGAGGAAAAGGA	0.448																																					p.E17X													.	.			0			c.G49T												96.0	94.0	95.0					15																	90793911		2199	4298	6497	SO:0001587	stop_gained	440307	exon2			TATGTTGAGGAAA																												ENST00000561573.1:c.49G>T	15.37:g.90793911G>T	ENSP00000456615:p.Glu17*		69	0.0144927536	1		90	0.06	5	NM_001029964	0		0		Nonsense_Mutation	SNP	ENST00000561573.1	37		.	.	.	.	.	.	.	.	.	.	G	34	5.307673	0.95629	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	.	.	.	5.05	5.05	0.67936	.	1.097450	0.07347	U	0.881750	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	14.2299	0.65885	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000345294:E17X	E	+	1	0	TTLL13	88594915	1.000000	0.71417	0.949000	0.38748	0.277000	0.26821	4.083000	0.57643	2.514000	0.84764	0.491000	0.48974	GAG			0.448	RP11-697E2.6-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding		OTTHUMT00000435855.1			
WASH4P	374677	broad.mit.edu	37	16	66689	66689	+	Missense_Mutation	SNP	A	A	G	rs201145257		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr16:66689A>G	ENST00000326592.9	-	6	1428	c.770T>C	c.(769-771)aTt>aCt	p.I257T	DDX11L10_ENST00000513886.1_RNA|Z84812.4_ENST00000568710.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	257					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										TGGAACATCAATCTCAGGCAC	0.607																																					.													.	.			0			.																																									SO:0001583	missense	0	.			ACATCAATCTCAG			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.770T>C	16.37:g.66689A>G	ENSP00000317542:p.Ile257Thr		9	0	0		11	0.18	2	.	28	0.00	0		Missense_Mutation	SNP	ENST00000326592.9	37		.	.	.	.	.	.	.	.	.	.	a	16.01	3.000648	0.54254	.	.	ENSG00000234769	ENST00000326592	.	.	.	0.36	0.36	0.16097	.	0.049120	0.85682	N	0.000000	T	0.58466	0.2124	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.57323	-0.7831	6	0.87932	D	0	-16.0578	5.0711	0.14608	0.9999:0.0:1.0E-4:0.0	.	.	.	.	T	257	.	ENSP00000317542:I257T	I	-	2	0	WASH4P	6689	1.000000	0.71417	0.925000	0.36789	0.592000	0.36648	6.099000	0.71466	0.365000	0.24400	0.147000	0.16070	ATT			0.607	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000133175.2		NG_003159	
CBFA2T3	863	mdanderson.org	37	16	88943658	88943658	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr16:88943658G>T	ENST00000268679.4	-	12	2084	c.1688C>A	c.(1687-1689)gCc>gAc	p.A563D	CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A477D|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.A487D|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A525D|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A477D	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	563					cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTCTCACTGGCTTTCCGCCC	0.662			T	RUNX1	AML																																p.A563D				Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	.	.			0			c.C1688A												8.0	7.0	7.0					16																	88943658		2138	4217	6355	SO:0001583	missense	863	exon12			TCACTGGCTTTCC	AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1688C>A	16.37:g.88943658G>T	ENSP00000268679:p.Ala563Asp		40	0	0		45	0.07	3	NM_005187	5	0.00	0	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587297	0.66105	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.58358	1.0;0.34;0.38;1.0;1.0	4.3	4.3	0.51218	Zinc finger, MYND-type (3);	0.000000	0.85682	D	0.000000	T	0.71787	0.3381	M	0.72353	2.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76732	-0.2851	10	0.87932	D	0	-26.0808	16.9595	0.86268	0.0:0.0:1.0:0.0	.	563;477	O75081;O75081-2	MTG16_HUMAN;.	D	477;563;525;487;477	ENSP00000332122:A477D;ENSP00000268679:A563D;ENSP00000395739:A525D;ENSP00000401254:A487D;ENSP00000353449:A477D	ENSP00000268679:A563D	A	-	2	0	CBFA2T3	87471159	1.000000	0.71417	0.999000	0.59377	0.029000	0.11900	9.233000	0.95337	2.215000	0.71742	0.561000	0.74099	GCC			0.662	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000269545.2		NM_005187	
SPEM1	374768	broad.mit.edu	37	17	7324624	7324624	+	Silent	SNP	A	A	C			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:7324624A>C	ENST00000323675.3	+	3	655	c.630A>C	c.(628-630)ccA>ccC	p.P210P	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	210	Poly-Pro.				sperm individualization (GO:0007291)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				TGAACCCCCCACCTCCCAGCC	0.637																																					p.P210P													.	SPEM1	41		0			c.A630C												34.0	39.0	38.0					17																	7324624		1928	4130	6058	SO:0001819	synonymous_variant	374768	exon3			CCCCCCACCTCCC	AK097400	CCDS42254.1	17p13.1	2011-12-12	2008-02-04	2008-02-04	ENSG00000181323	ENSG00000181323			32429	protein-coding gene	gene with protein product		615116	"""chromosome 17 open reading frame 83"""	C17orf83		17426145, 20558241, 21184802	Standard	NM_199339		Approved	FLJ40081	uc002ggv.3	Q8N4L4		ENST00000323675.3:c.630A>C	17.37:g.7324624A>C			68	0.1911764706	13		67	0.25	17	NM_199339	0		0		Silent	SNP	ENST00000323675.3	37	CCDS42254.1																																																																																					0.637	SPEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000440932.1		NM_199339	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|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	0	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		244	0.0573770492	14		203	0.05	11	NM_145301	64	0.45	29	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	
RP11-434D2.11	0	broad.mit.edu	37	17	20459733	20459734	+	RNA	INS	-	-	GA	rs374144231		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:20459733_20459734insGA	ENST00000579603.1	-	0	63																											atatatatatGGAGAGAGAGAC	0.347																																					.													.	.			0			.																																											0	.			ATATATGGAGAGA																													17.37:g.20459742_20459743dupGA			65	0	0		68	0.12	8	.	0		0		RNA	INS	ENST00000579603.1	37																																																																																						0.347	RP11-434D2.11-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000448286.1			
LRRC37A3	374819	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	17	62892947	62892947	+	Silent	SNP	G	G	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:62892947G>A	ENST00000584306.1	-	3	959	c.429C>T	c.(427-429)ctC>ctT	p.L143L	LRRC37A3_ENST00000319651.5_Silent_p.L143L|LRRC37A3_ENST00000577487.1_5'Flank|LRRC37A3_ENST00000339474.5_Intron|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.2_ENST00000581622.1_RNA|RP11-927P21.1_ENST00000577938.1_RNA|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	143						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GCGAAACAGGGAGCCTTTCCT	0.507																																					p.L143L													.	.			0			c.C429T												24.0	43.0	37.0					17																	62892947		1623	3409	5032	SO:0001819	synonymous_variant	374819	exon3			AACAGGGAGCCTT	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.429C>T	17.37:g.62892947G>A			643	0	0		695	0.08	53	NM_199340	0		0	Q49A01|Q49A80|Q8NB33	Silent	SNP	ENST00000584306.1	37	CCDS32708.1																																																																																					0.507	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445377.1		NM_199340	
ABCA6	23460	mdanderson.org	37	17	67084386	67084386	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:67084386G>T	ENST00000284425.2	-	28	3794	c.3620C>A	c.(3619-3621)aCt>aAt	p.T1207N	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1207					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAATAGCAAAGTCTGAAAGTA	0.308																																					p.T1207N													.	.			0			c.C3620A												80.0	76.0	78.0					17																	67084386		2203	4300	6503	SO:0001583	missense	23460	exon28			AGCAAAGTCTGAA	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3620C>A	17.37:g.67084386G>T	ENSP00000284425:p.Thr1207Asn		53	0	0		53	0.06	3	NM_080284	0		0	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	G	8.747	0.920262	0.17982	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.86366	-2.11	4.68	1.16	0.20824	.	0.914310	0.09001	N	0.862935	T	0.80465	0.4628	L	0.29908	0.895	0.80722	D	1	B	0.20261	0.043	B	0.32022	0.139	T	0.72257	-0.4346	10	0.49607	T	0.09	.	5.3963	0.16271	0.2042:0.4101:0.3857:0.0	.	1207	Q8N139	ABCA6_HUMAN	N	1207;67	ENSP00000284425:T1207N	ENSP00000284425:T1207N	T	-	2	0	ABCA6	64595981	0.025000	0.19082	0.561000	0.28357	0.279000	0.26890	0.517000	0.22832	0.618000	0.30179	0.462000	0.41574	ACT			0.308	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450463.1		NM_080284	
OGFOD3	79701	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	17	80350394	80350396	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	GAA	GAA					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:80350394_80350396delGAA	ENST00000313056.5	-	9	989_991	c.838_840delTTC	c.(838-840)ttcdel	p.F280del	OGFOD3_ENST00000578287.1_5'UTR|OGFOD3_ENST00000329197.5_3'UTR	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3	Q6PK18	OGFD3_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 3	280	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)										ACCCCGAGGTGAAGAAGGAGACG	0.621																																					p.280_281del													.	.			0			c.839_841del																																									SO:0001651	inframe_deletion	79701	exon9			CGAGGTGAAGAAG	BC023602	CCDS11811.1, CCDS11812.1	17q25.3	2012-10-23	2012-10-23	2012-10-23	ENSG00000181396	ENSG00000181396			26174	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 101"""	C17orf101		12477932	Standard	NM_175902		Approved	FLJ22222	uc002keu.2	Q6PK18		ENST00000313056.5:c.838_840delTTC	17.37:g.80350397_80350399delGAA	ENSP00000320116:p.Phe280del		94	0	0		112	0.13	14	NM_024648	105	0.00	0	C9JDC8|Q8IZ37|Q9H6J2	In_Frame_Del	DEL	ENST00000313056.5	37	CCDS11811.1																																																																																					0.621	OGFOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442895.1		NM_175902	
ROCK1	6093	mdanderson.org	37	18	18600140	18600140	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr18:18600140A>T	ENST00000399799.2	-	12	2273	c.1333T>A	c.(1333-1335)Tta>Ata	p.L445I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	445	Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCATCTTTTAACTGCATTTCA	0.289																																					p.L445I													.	.			0			c.T1333A												83.0	77.0	79.0					18																	18600140		2202	4292	6494	SO:0001583	missense	6093	exon12			CTTTTAACTGCAT		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.1333T>A	18.37:g.18600140A>T	ENSP00000382697:p.Leu445Ile		65	0	0		27	0.11	3	NM_005406	17	0.00	0	B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	A	14.18	2.457575	0.43634	.	.	ENSG00000067900	ENST00000399799	D	0.82984	-1.67	5.8	4.64	0.57946	.	0.000000	0.64402	D	0.000001	T	0.79592	0.4472	M	0.68317	2.08	0.45439	D	0.998413	B	0.19817	0.039	B	0.14023	0.01	T	0.74321	-0.3703	10	0.42905	T	0.14	.	9.3567	0.38171	0.8065:0.0:0.1935:0.0	.	445	Q13464	ROCK1_HUMAN	I	445	ENSP00000382697:L445I	ENSP00000382697:L445I	L	-	1	2	ROCK1	16854138	0.067000	0.21026	0.994000	0.49952	0.993000	0.82548	0.188000	0.17018	1.026000	0.39733	0.460000	0.39030	TTA			0.289	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254641.2		NM_005406	
ABHD17A	81926	hgsc.bcm.edu	37	19	1881395	1881395	+	Silent	SNP	T	T	C	rs199929215	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:1881395T>C	ENST00000292577.7	-	2	604	c.171A>G	c.(169-171)agA>agG	p.R57R	ABHD17A_ENST00000250974.9_Silent_p.R57R|ABHD17A_ENST00000590661.1_Silent_p.R57R	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	57						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.R57R(1)									CCGAGGAGGCTCTCAGGGTCC	0.726																																					p.R57R													FAM108A1,NS,carcinoma,0,3	FAM108A1	0	3	1	Substitution - coding silent(1)	prostate(1)	c.A171G												7.0	10.0	9.0					19																	1881395		1880	3957	5837	SO:0001819	synonymous_variant	81926	exon2			GGAGGCTCTCAGG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.171A>G	19.37:g.1881395T>C			14	0.0714285714	1		14	0.36	5	NM_031213	63	0.02	1	A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	ENST00000292577.7	37	CCDS45902.1																																																																																			0.01		0.726	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415556.2		NM_031213	
SEMA6B	10501	mdanderson.org	37	19	4555021	4555021	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:4555021G>A	ENST00000586582.1	-	8	959	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	SEMA6B_ENST00000301293.3_Missense_Mutation_p.R217C|SEMA6B_ENST00000586965.1_Missense_Mutation_p.R217C	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	217	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCACGGTGCGCAGGGTGGGC	0.582																																					p.R217C													.	.			0			c.C649T												113.0	97.0	102.0					19																	4555021		2203	4300	6503	SO:0001583	missense	10501	exon8			CGGTGCGCAGGGT	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.649C>T	19.37:g.4555021G>A	ENSP00000467290:p.Arg217Cys		76	0	0		56	0.05	3	NM_032108	33	0.00	0	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	21.8	4.200796	0.79015	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.13657	2.57	3.1	2.03	0.26663	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.058698	0.64402	D	0.000003	T	0.47002	0.1422	H	0.95950	3.745	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60757	-0.7200	10	0.87932	D	0	.	10.9401	0.47268	0.0:0.0:0.8103:0.1897	.	217;217	B4DT36;Q9H3T3	.;SEM6B_HUMAN	C	217	ENSP00000301293:R217C	ENSP00000301292:R217C	R	-	1	0	SEMA6B	4506021	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.253000	0.58791	0.849000	0.35215	0.455000	0.32223	CGC			0.582	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458656.2		NM_032108	
KANK2	25959	mdanderson.org	37	19	11303936	11303936	+	Silent	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:11303936G>T	ENST00000586659.1	-	4	1134	c.820C>A	c.(820-822)Cgg>Agg	p.R274R	KANK2_ENST00000589894.1_Silent_p.R274R|KANK2_ENST00000355150.5_Silent_p.R274R|KANK2_ENST00000432929.2_Silent_p.R274R|KANK2_ENST00000589359.1_Silent_p.R274R			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	274					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCCAAGTCCCGTTCTCGAACC	0.687																																					p.R274R													.	.			0			c.C820A												26.0	28.0	27.0					19																	11303936		2198	4296	6494	SO:0001819	synonymous_variant	25959	exon2			AGTCCCGTTCTCG	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.820C>A	19.37:g.11303936G>T			30	0	0		26	0.08	2	NM_015493	8	0.00	0	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Silent	SNP	ENST00000586659.1	37	CCDS12255.1																																																																																					0.687	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000453066.2		NM_015493	
WIZ	58525	mdanderson.org	37	19	15535768	15535768	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:15535768T>C	ENST00000389282.4	-	8	4469	c.4256A>G	c.(4255-4257)cAc>cGc	p.H1419R	WIZ_ENST00000545156.1_Missense_Mutation_p.H733R|WIZ_ENST00000599686.3_Missense_Mutation_p.H603R|WIZ_ENST00000599910.2_Missense_Mutation_p.H736R|WIZ_ENST00000263381.7_Missense_Mutation_p.H562R			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1419					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTGCCGCAGGTGTGCCCGTGC	0.667																																					p.H562R													.	.			0			c.A1685G												11.0	13.0	12.0					19																	15535768		2056	4195	6251	SO:0001583	missense	58525	exon6			CGCAGGTGTGCCC	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.4256A>G	19.37:g.15535768T>C	ENSP00000373933:p.His1419Arg		45	0	0		45	0.11	5	NM_021241	59	0.00	0	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37		.	.	.	.	.	.	.	.	.	.	T	19.06	3.754179	0.69648	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	D;D;D	0.88975	-2.45;-2.45;-2.45	5.35	4.29	0.51040	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.050115	0.85682	D	0.000000	D	0.92391	0.7585	L	0.57536	1.79	0.46044	D	0.998834	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.977;0.998;0.999	D	0.92025	0.5629	10	0.87932	D	0	-21.7922	11.2383	0.48953	0.0:0.0:0.1539:0.8461	.	1419;562;603	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	R	1419;562;603;733	ENSP00000373933:H1419R;ENSP00000263381:H562R;ENSP00000445824:H733R	ENSP00000263381:H562R	H	-	2	0	WIZ	15396768	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	5.871000	0.69628	0.820000	0.34516	0.528000	0.53228	CAC			0.667	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_021241	
ABHD8	79575	mdanderson.org	37	19	17405202	17405202	+	Silent	SNP	G	G	T	rs556911878		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:17405202G>T	ENST00000247706.3	-	4	1283	c.1044C>A	c.(1042-1044)ccC>ccA	p.P348P	CTD-2278I10.4_ENST00000594077.1_RNA|MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	348							hydrolase activity (GO:0016787)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGTCGCCCTCGGGCCAGTACT	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17156	0.0		0.0	False		,,,				2504	0.0				p.P348P	Ovarian(156;1368 2543 15275 41187)												.	.			0			c.C1044A												126.0	100.0	109.0					19																	17405202		2203	4300	6503	SO:0001819	synonymous_variant	79575	exon4			GCCCTCGGGCCAG	AK021805	CCDS12355.1	19p13.12	2010-12-09			ENSG00000127220	ENSG00000127220		"""Abhydrolase domain containing"""	23759	protein-coding gene	gene with protein product						12477932	Standard	NM_024527		Approved	FLJ11743, MGC14280, MGC2512	uc002ngb.4	Q96I13		ENST00000247706.3:c.1044C>A	19.37:g.17405202G>T			44	0	0		45	0.07	3	NM_024527	3	0.00	0	Q9HAE9	Silent	SNP	ENST00000247706.3	37	CCDS12355.1																																																																																					0.617	ABHD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462937.1		NM_024527	
PGLS	25796	mdanderson.org	37	19	17622540	17622540	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:17622540C>T	ENST00000252603.2	+	1	103	c.59C>T	c.(58-60)gCg>gTg	p.A20V	CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_012088.2	NP_036220.1	O95336	6PGL_HUMAN	6-phosphogluconolactonase	20					carbohydrate metabolic process (GO:0005975)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	6-phosphogluconolactonase activity (GO:0017057)|monosaccharide binding (GO:0048029)			endometrium(1)|lung(1)	2						GAGCTGGGTGCGGCGCTAGCG	0.756																																					p.A20V													.	.			0			c.C59T												2.0	2.0	2.0					19																	17622540		1670	3415	5085	SO:0001583	missense	25796	exon1			TGGGTGCGGCGCT	AJ243972	CCDS12361.1	19p13.2	2008-02-05				ENSG00000130313	3.1.1.31		8903	protein-coding gene	gene with protein product		604951				10518023	Standard	NM_012088		Approved	6PGL	uc002ngw.3	O95336		ENST00000252603.2:c.59C>T	19.37:g.17622540C>T	ENSP00000252603:p.Ala20Val		20	0	0		21	0.10	2	NM_012088	31	0.00	0		Missense_Mutation	SNP	ENST00000252603.2	37	CCDS12361.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593697	0.66219	.	.	ENSG00000130313	ENST00000252603	T	0.45668	0.89	4.91	2.27	0.28462	Glucosamine/galactosamine-6-phosphate isomerase (1);6-phosphogluconolactonase, DevB-type (1);	0.394213	0.26684	N	0.023024	T	0.27384	0.0672	L	0.35644	1.08	0.22552	N	0.999	B	0.11235	0.004	B	0.08055	0.003	T	0.10941	-1.0608	10	0.30078	T	0.28	-16.4274	5.8477	0.18675	0.1947:0.6891:0.0:0.1162	.	20	O95336	6PGL_HUMAN	V	20	ENSP00000252603:A20V	ENSP00000252603:A20V	A	+	2	0	PGLS	17483540	0.997000	0.39634	0.704000	0.30370	0.723000	0.41478	4.032000	0.57274	0.993000	0.38866	0.491000	0.48974	GCG			0.756	PGLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000464154.1			
KMT2B	9757	mdanderson.org	37	19	36219739	36219739	+	Nonsense_Mutation	SNP	C	C	T	rs369588398		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:36219739C>T	ENST00000222270.7	+	20	4636	c.4636C>T	c.(4636-4638)Cag>Tag	p.Q1546*	KMT2B_ENST00000420124.1_Nonsense_Mutation_p.Q1546*|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1546					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGGAGACAGCAGGAACCAGA	0.617																																					p.Q1546X													.	.			0			c.C4636T												54.0	59.0	57.0					19																	36219739		2030	4182	6212	SO:0001587	stop_gained	8085	exon20			AGACAGCAGGAAC	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4636C>T	19.37:g.36219739C>T	ENSP00000222270:p.Gln1546*		101	0	0		63	0.06	4	NM_014727	44	0.00	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Nonsense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	43	9.980273	0.99309	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	.	.	.	4.91	3.86	0.44501	.	0.000000	0.40554	N	0.001071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	9.4152	0.38517	0.1628:0.68:0.1572:0.0	.	.	.	.	X	1546	.	ENSP00000222270:Q1546X	Q	+	1	0	AD000671.1	40911579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.275000	0.51639	1.271000	0.44313	0.655000	0.94253	CAG			0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727	
LRFN1	57622	broad.mit.edu	37	19	39804795	39804795	+	Silent	SNP	T	T	G			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:39804795T>G	ENST00000248668.4	-	1	1181	c.1182A>C	c.(1180-1182)gcA>gcC	p.A394A	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	394						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.A346A(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCGGCGGGGGTGCCATCAGAG	0.687																																					p.A394A													LRFN1,brain,primitive_neuroectodermal_tumour-medulloblastoma,0,1	LRFN1	59	1	1	Substitution - coding silent(1)	central_nervous_system(1)	c.A1182C												16.0	21.0	19.0					19																	39804795		2126	4221	6347	SO:0001819	synonymous_variant	57622	exon1			CGGGGGTGCCATC	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1182A>C	19.37:g.39804795T>G			48	0.1458333333	7		36	0.22	8	NM_020862	3	0.00	0	Q8TBS9	Silent	SNP	ENST00000248668.4	37	CCDS46071.1																																																																																					0.687	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463835.1		NM_020862	
TPRX1	284355	broad.mit.edu	37	19	48305622	48305622	+	Missense_Mutation	SNP	A	A	G	rs201007421		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:48305622A>G	ENST00000322175.3	-	2	801	c.646T>C	c.(646-648)Tca>Cca	p.S216P	TPRX1_ENST00000535759.1_Missense_Mutation_p.S313P|TPRX1_ENST00000543508.1_Missense_Mutation_p.S206P	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	216	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		tttgggcctgagattgggcct	0.667																																					p.S216P	Esophageal Squamous(123;175 2281 3051 32395)												TPRX1,caecum,carcinoma,0,2	TPRX1	46	2	0			c.T646C																																									SO:0001583	missense	284355	exon2			GGCCTGAGATTGG		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.646T>C	19.37:g.48305622A>G	ENSP00000323455:p.Ser216Pro		43	0.023255814	1		30	0.13	4	NM_198479	5	0.00	0	A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	0.006	-2.036234	0.00406	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	T;T;T	0.19250	2.16;2.16;2.16	0.365	-0.73	0.11154	.	.	.	.	.	T	0.07324	0.0185	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40701	-0.9549	8	0.02654	T	1	.	.	.	.	.	216	Q8N7U7	TPRX1_HUMAN	P	216;313;206	ENSP00000323455:S216P;ENSP00000438832:S313P;ENSP00000438712:S206P	ENSP00000323455:S216P	S	-	1	0	TPRX1	52997434	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.826000	0.27407	-2.735000	0.00382	-2.728000	0.00130	TCA			0.667	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000409868.1		NM_198479	
HAS1	3036	mdanderson.org	37	19	52216945	52216945	+	Nonsense_Mutation	SNP	G	G	T	rs367672882		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:52216945G>T	ENST00000222115.1	-	5	1506	c.1472C>A	c.(1471-1473)tCg>tAg	p.S491*	HAS1_ENST00000601714.1_Nonsense_Mutation_p.S498*|HAS1_ENST00000540069.2_Nonsense_Mutation_p.S490*	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	491					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCCGGCCCGAGGTGCCCCA	0.667																																					p.S491X	NSCLC(132;636 2450 45807 47979)												.	.			0			c.C1472A												7.0	7.0	7.0					19																	52216945		1936	3915	5851	SO:0001587	stop_gained	3036	exon5			CGGCCCGAGGTGC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1472C>A	19.37:g.52216945G>T	ENSP00000222115:p.Ser491*		35	0	0		32	0.09	3	NM_001523	6	0.00	0	Q14470|Q9NS49	Nonsense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	g	35	5.569167	0.96540	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	.	.	.	3.31	3.31	0.37934	.	0.092979	0.45867	U	0.000335	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-43.9845	12.4753	0.55809	0.0:0.0:1.0:0.0	.	.	.	.	X	490;491	.	ENSP00000222115:S491X	S	-	2	0	HAS1	56908757	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	9.373000	0.97168	1.860000	0.53959	0.174000	0.16983	TCG			0.667	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000466953.1		NM_001523	
ZNF547	284306	broad.mit.edu	37	19	57888687	57888687	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:57888687T>C	ENST00000282282.3	+	4	493	c.343T>C	c.(343-345)Tac>Cac	p.Y115H	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGGGACTGTACACGTGTCC	0.512																																					p.Y115H													.	ZNF547	45		0			c.T343C												110.0	93.0	99.0					19																	57888687		2203	4300	6503	SO:0001583	missense	284306	exon4			GGACTGTACACGT	AK055662	CCDS33131.1	19q13.43	2013-01-08				ENSG00000152433		"""Zinc fingers, C2H2-type"", ""-"""	26432	protein-coding gene	gene with protein product							Standard	NM_173631		Approved	FLJ31100	uc002qol.3	Q8IVP9		ENST00000282282.3:c.343T>C	19.37:g.57888687T>C	ENSP00000282282:p.Tyr115His		151	0	0		138	0.02	3	NM_173631	1	0.00	0	A8K5Z9|Q96NC4	Missense_Mutation	SNP	ENST00000282282.3	37	CCDS33131.1	.	.	.	.	.	.	.	.	.	.	T	3.299	-0.143205	0.06669	.	.	ENSG00000152433	ENST00000391704;ENST00000282282	T	0.04970	3.52	2.09	-0.181	0.13291	.	.	.	.	.	T	0.10551	0.0258	L	0.34521	1.04	0.09310	N	1	D;D;P	0.71674	0.998;0.997;0.856	D;P;B	0.68353	0.957;0.907;0.352	T	0.25710	-1.0124	9	0.42905	T	0.14	.	3.5189	0.07735	0.0:0.1476:0.2309:0.6215	.	115;115;115	Q8IVP9-2;C9JTQ3;Q8IVP9	.;.;ZN547_HUMAN	H	115	ENSP00000282282:Y115H	ENSP00000282282:Y115H	Y	+	1	0	ZNF547	62580499	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.480000	0.02325	-0.108000	0.12066	-0.619000	0.04042	TAC			0.512	ZNF547-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465787.1		NM_173631	
ZNF814	730051	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	19	58388393	58388393	+	Silent	SNP	T	T	C			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr19:58388393T>C	ENST00000435989.2	-	2	288	c.54A>G	c.(52-54)gaA>gaG	p.E18E	ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Silent_p.E18E|ZNF814_ENST00000597342.1_Silent_p.E47E|CTD-2583A14.9_ENST00000602124.1_3'UTR|ZNF814_ENST00000600634.1_Silent_p.E18E|ZNF814_ENST00000597807.1_Silent_p.E18E|ZNF814_ENST00000596604.1_Silent_p.E18E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CAGCCACATCTTCAAAAGTCA	0.473																																					p.E18E													.	.			0			c.A54G												165.0	129.0	140.0					19																	58388393		692	1591	2283	SO:0001819	synonymous_variant	730051	exon2			CACATCTTCAAAA		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.54A>G	19.37:g.58388393T>C			140	0	0		98	0.05	5	NM_001144989	28	0.00	0	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																					0.473	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000466976.1		XM_001725708	
RGPD2	729857	broad.mit.edu	37	2	88125234	88125234	+	Silent	SNP	T	T	C	rs550032815	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr2:88125234T>C	ENST00000398146.3	-	1	237	c.15A>G	c.(13-15)aaA>aaG	p.K5K	RGPD2_ENST00000420840.2_Intron|RGPD2_ENST00000327544.6_5'UTR			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	5					protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CCCCGTAGGCTTTGCTGCGCC	0.667													.|||	4	0.000798722	0.0	0.0	5008	,	,		10105	0.0		0.002	False		,,,				2504	0.002				p.K5K													.	RGPD2	14		0			c.A15G												36.0	56.0	50.0					2																	88125234		692	1591	2283	SO:0001819	synonymous_variant	729857	exon1			GTAGGCTTTGCTG		CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.15A>G	2.37:g.88125234T>C			66	0.0151515152	1		71	0.11	8	NM_001078170	0		0	P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000398146.3	37	CCDS42710.2																																																																																					0.667	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330534.2		NM_001078170	
ANKRD36BP2	645784	broad.mit.edu	37	2	89104503	89104504	+	RNA	INS	-	-	C	rs149625899|rs67367050	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr2:89104503_89104504insC	ENST00000393525.3	+	0	4868									ankyrin repeat domain 36B pseudogene 2																		gtagatttttttcagattttgg	0.307													-|-|C|insertion	512	0.102236	0.1067	0.0965	5008	,	,		29304	0.0694		0.1064	False		,,,				2504	0.1299				.													.	.			0			.																																											0	.			ATTTTTTTCAGAT			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104503_89104504insC			10	0.3	3		11	0.36	4	.	0		0		RNA	INS	ENST00000393525.3	37																																																																																						0.307	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000323523.1			
PLGLA	285189	broad.mit.edu	37	2	107003270	107003270	+	RNA	DEL	A	A	-	rs549808603	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr2:107003270delA	ENST00000484422.1	+	0	103							Q15195	PLGA_HUMAN	plasminogen-like A (pseudogene)							extracellular region (GO:0005576)											ATATAATGTTAAAAAAAAAAA	0.403													|||unknown(NO_COVERAGE)	40	0.00798722	0.0098	0.0058	5008	,	,		19909	0.005		0.005	False		,,,				2504	0.0133				.													.	.			0			.																																											0	.			AATGTTAAAAAAA	U67178, M86872, M86873		2q12.2	2013-03-28	2013-03-28	2008-02-07	ENSG00000240935	ENSG00000240935			9074	pseudogene	pseudogene		612212	"""plasminogen pseudogene 2"", ""plasminogen-like A1"", ""plasminogen-like A"""	PLGP2, PLGLA1		1986355	Standard	NR_003506		Approved		uc002tdp.4	Q15195	OTTHUMG00000153188		2.37:g.107003270delA			9	0	0		6	0.67	4	.	0		0		RNA	DEL	ENST00000484422.1	37																																																																																						0.403	PLGLA-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000331219.1		NR_003506.2	
ANKMY1	51281	mdanderson.org	37	2	241492364	241492364	+	Silent	SNP	G	G	A	rs202087165		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr2:241492364G>A	ENST00000272972.3	-	3	394	c.180C>T	c.(178-180)taC>taT	p.Y60Y	ANKMY1_ENST00000391987.1_Silent_p.Y60Y|ANKMY1_ENST00000361678.4_Silent_p.Y149Y|ANKMY1_ENST00000373320.4_Silent_p.Y60Y|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405523.3_Silent_p.Y149Y|ANKMY1_ENST00000405002.1_Silent_p.Y60Y|ANKMY1_ENST00000403283.1_Silent_p.Y228Y|ANKMY1_ENST00000406958.1_Silent_p.Y149Y|ANKMY1_ENST00000536462.1_Silent_p.Y102Y|ANKMY1_ENST00000373318.2_Silent_p.Y149Y|ANKMY1_ENST00000401804.1_Silent_p.Y149Y	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	60							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		ACATGGTGCCGTAGCCTTCTC	0.562													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18046	0.0		0.0	False		,,,				2504	0.0				p.Y149Y													.	.			0			c.C447T												121.0	105.0	110.0					2																	241492364		2203	4300	6503	SO:0001819	synonymous_variant	51281	exon4			GGTGCCGTAGCCT	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.180C>T	2.37:g.241492364G>A			60	0	0		56	0.05	3	NM_017844	5	0.00	0	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Silent	SNP	ENST00000272972.3	37	CCDS2536.1																																																																																			0		0.562	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000257187.2		NM_017844	
RRBP1	6238	bcgsc.ca	37	20	17639827	17639827	+	Silent	SNP	G	G	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr20:17639827G>A	ENST00000377813.1	-	3	1629	c.1326C>T	c.(1324-1326)gcC>gcT	p.A442A	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000246043.4_Silent_p.A442A			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	442	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGCCCCCTCGGCCTTCTTGC	0.657																																					.													.	RRBP1	157		0			.																																									SO:0001819	synonymous_variant	6238	.			CCCCTCGGCCTTC	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1326C>T	20.37:g.17639827G>A			224	0.0089285714	2		213	0.05	10	.	748	0.01	9	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37																																																																																						0.657	RRBP1-002	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000078125.1		NM_001042576	
RRBP1	6238	bcgsc.ca	37	20	17639837	17639837	+	Missense_Mutation	SNP	C	C	T	rs113442443		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr20:17639837C>T	ENST00000377813.1	-	3	1619	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.G439D			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	439	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCCTTCTTGCCCTGGTTCTG	0.647																																					.													.	RRBP1	157		0			.																																									SO:0001583	missense	6238	.			TTCTTGCCCTGGT	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1316G>A	20.37:g.17639837C>T	ENSP00000367044:p.Gly439Asp		228	0.0175438596	4		206	0.06	12	.	637	0.07	43	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	C	15.47	2.842362	0.51057	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	T;T	0.65549	-0.16;-0.16	3.86	0.804	0.18697	.	0.659654	0.11931	N	0.515696	T	0.48909	0.1526	.	.	.	0.58432	D	0.999997	.	.	.	.	.	.	T	0.25047	-1.0143	7	0.17832	T	0.49	-10.7153	5.2984	0.15764	0.1627:0.6495:0.0:0.1878	.	.	.	.	D	439	ENSP00000367044:G439D;ENSP00000246043:G439D	ENSP00000246043:G439D	G	-	2	0	RRBP1	17587837	0.000000	0.05858	0.212000	0.23672	0.006000	0.05464	-0.708000	0.05035	0.222000	0.20900	-0.258000	0.10820	GGC			0.647	RRBP1-002	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000078125.1		NM_001042576	
NCOA6	23054	hgsc.bcm.edu;broad.mit.edu	37	20	33345756	33345756	+	Silent	SNP	T	T	C			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr20:33345756T>C	ENST00000374796.2	-	8	3365	c.795A>G	c.(793-795)caA>caG	p.Q265Q	NCOA6_ENST00000359003.2_Silent_p.Q265Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	265	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q265Q(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gttgttgttgttgctgctgct	0.537																																					p.Q265Q													NCOA6,bladder,carcinoma,0,2	NCOA6	0	2	1	Substitution - coding silent(1)	central_nervous_system(1)	c.A795G												62.0	52.0	55.0					20																	33345756		2203	4300	6503	SO:0001819	synonymous_variant	23054	exon7			TTGTTGTTGCTGC	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.795A>G	20.37:g.33345756T>C			61	0	0		68	0.04	3	NM_014071	9	0.00	0	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	CCDS13241.1																																																																																					0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078811.2		NM_014071	
DYRK1A	1859	mdanderson.org	37	21	38877888	38877888	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr21:38877888C>A	ENST00000398960.2	+	9	1617	c.1542C>A	c.(1540-1542)agC>agA	p.S514R	DYRK1A_ENST00000398956.2_Missense_Mutation_p.S514R|DYRK1A_ENST00000339659.4_Missense_Mutation_p.S505R|DYRK1A_ENST00000455387.2_Missense_Mutation_p.S286R|DYRK1A_ENST00000321219.8_Missense_Mutation_p.S514R|DYRK1A_ENST00000451934.1_Missense_Mutation_p.S514R|DYRK1A_ENST00000338785.3_Missense_Mutation_p.S514R	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	514	Poly-Ser.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CATCGTCAAGCTCAGGTCTGT	0.413																																					p.S514R	Melanoma(114;464 1602 31203 43785 45765)												.	.			0			c.C1542A												92.0	91.0	91.0					21																	38877888		2203	4300	6503	SO:0001583	missense	1859	exon11			GTCAAGCTCAGGT	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.1542C>A	21.37:g.38877888C>A	ENSP00000381932:p.Ser514Arg		23	0	0		18	0.11	2	NM_101395	37	0.00	0	O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290903	0.40494	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.59772	0.37;0.24;0.4;0.37;0.24;0.27;0.79	5.83	4.94	0.65067	.	0.075299	0.85682	D	0.000000	T	0.64405	0.2595	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D	0.64830	0.994;0.994;0.96;0.976;0.994	D;D;P;P;D	0.71870	0.975;0.975;0.634;0.799;0.975	T	0.60622	-0.7227	10	0.35671	T	0.21	.	14.3424	0.66636	0.0:0.9294:0.0:0.0706	.	514;514;514;505;514	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	R	514;505;514;514;514;514;286	ENSP00000342690:S514R;ENSP00000340373:S505R;ENSP00000319032:S514R;ENSP00000416089:S514R;ENSP00000381932:S514R;ENSP00000381929:S514R;ENSP00000407854:S286R	ENSP00000319032:S514R	S	+	3	2	DYRK1A	37799758	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	2.589000	0.46145	2.761000	0.94854	0.650000	0.86243	AGC			0.413	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000194804.1		NM_001396	
LRRC66	339977	mdanderson.org	37	4	52861268	52861268	+	Silent	SNP	C	C	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr4:52861268C>T	ENST00000343457.3	-	4	1926	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	640						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TTGCCCCGGACAGCCTTGGCT	0.537																																					p.L640L													.	.			0			c.G1920A												70.0	69.0	70.0					4																	52861268		1998	4173	6171	SO:0001819	synonymous_variant	339977	exon4			CCCGGACAGCCTT	BC040414	CCDS43229.1	4q12	2008-08-08			ENSG00000188993	ENSG00000188993			34299	protein-coding gene	gene with protein product							Standard	XM_005265739		Approved		uc003gzi.3	Q68CR7	OTTHUMG00000160623	ENST00000343457.3:c.1920G>A	4.37:g.52861268C>T			87	0	0		53	0.06	3	NM_001024611	0		0		Silent	SNP	ENST00000343457.3	37	CCDS43229.1																																																																																					0.537	LRRC66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361473.1		NM_001024611	
HERC6	55008	mdanderson.org	37	4	89338644	89338644	+	Silent	SNP	C	C	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr4:89338644C>T	ENST00000264346.7	+	13	1685	c.1626C>T	c.(1624-1626)atC>atT	p.I542I	HERC6_ENST00000380265.5_Silent_p.I542I	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	542					hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AAGCAGCCATCATCTCTCAGC	0.403																																					p.I542I													.	.			0			c.C1626T												73.0	67.0	69.0					4																	89338644		1881	4108	5989	SO:0001819	synonymous_variant	55008	exon13			AGCCATCATCTCT	AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.1626C>T	4.37:g.89338644C>T			75	0	0		40	0.08	3	NM_017912	8	0.00	0	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Silent	SNP	ENST00000264346.7	37	CCDS47098.1																																																																																					0.403	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000363259.2			
FTMT	94033	mdanderson.org	37	5	121187687	121187687	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr5:121187687G>T	ENST00000321339.1	+	1	38	c.29G>T	c.(28-30)aGg>aTg	p.R10M		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	10					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTCCTCTCCAGGCACATCAGC	0.711																																					p.R10M													.	.			0			c.G29T												27.0	30.0	29.0					5																	121187687		2201	4297	6498	SO:0001583	missense	94033	exon1			TCTCCAGGCACAT	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.29G>T	5.37:g.121187687G>T	ENSP00000313691:p.Arg10Met		22	0	0		24	0.13	3	NM_177478	0		0		Missense_Mutation	SNP	ENST00000321339.1	37	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459214	0.26248	.	.	ENSG00000181867	ENST00000321339	T	0.66280	-0.2	3.1	0.679	0.17975	.	.	.	.	.	T	0.41858	0.1177	N	0.24115	0.695	0.09310	N	1	P	0.44090	0.826	B	0.38562	0.276	T	0.27502	-1.0072	9	0.56958	D	0.05	.	4.7257	0.12939	0.695:0.0:0.305:0.0	.	10	Q8N4E7	FTMT_HUMAN	M	10	ENSP00000313691:R10M	ENSP00000313691:R10M	R	+	2	0	FTMT	121215586	0.018000	0.18449	0.096000	0.21009	0.130000	0.20726	0.634000	0.24614	0.123000	0.18342	-0.312000	0.09012	AGG			0.711	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250884.1		NM_177478	
BTN2A3P	54718	mdanderson.org	37	6	26428109	26428109	+	RNA	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:26428109G>T	ENST00000466808.2	+	0	1078							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											AATCCTTTATGCCCAGCAGGT	0.463																																					.													.	.			0			.												186.0	176.0	179.0					6																	26428109		2203	4300	6503			54718	.			CTTTATGCCCAGC	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26428109G>T			36	0	0		25	0.16	4	.	0		0	A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.463	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000040118.4		NR_027795	
HIST1H2BJ	8970	broad.mit.edu	37	6	27100492	27100492	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:27100492T>C	ENST00000607124.1	-	1	37	c.38A>G	c.(37-39)aAg>aGg	p.K13R	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K13R|HIST1H2AG_ENST00000359193.2_5'Flank|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K13R			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	13					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTTGGAGCCCTTTTTCGGGGC	0.537																																					p.K13R													HIST1H2BJ,NS,carcinoma,+1,1	HIST1H2BJ	21	1	0			c.A38G												82.0	84.0	83.0					6																	27100492		2203	4300	6503	SO:0001583	missense	8970	exon1			GAGCCCTTTTTCG	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.38A>G	6.37:g.27100492T>C	ENSP00000476136:p.Lys13Arg		109	0	0		136	0.03	4	NM_021058	5	0.00	0	B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.282737	0.59867	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.25250	1.81;1.81	4.27	4.27	0.50696	Histone-fold (2);	.	.	.	.	T	0.18173	0.0436	M	0.82716	2.605	0.44447	D	0.997372	B	0.33694	0.421	B	0.24974	0.057	T	0.10474	-1.0628	9	0.59425	D	0.04	.	11.9985	0.53216	0.0:0.0:0.0:1.0	.	13	P06899	H2B1J_HUMAN	R	13	ENSP00000445633:K13R;ENSP00000342886:K13R	ENSP00000342886:K13R	K	-	2	0	HIST1H2BJ	27208471	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.212000	0.77941	1.883000	0.54544	0.533000	0.62120	AAG			0.537	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040138.2		NM_021058	
TREML2	79865	hgsc.bcm.edu	37	6	41166123	41166123	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:41166123C>T	ENST00000483722.1	-	2	285	c.100G>A	c.(100-102)Ggg>Agg	p.G34R		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	34	Ig-like V-type.				T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGAGTCTCCCCTTCAAGGAGC	0.493																																					p.G34R													.	.			0			c.G100A												127.0	130.0	129.0					6																	41166123		2203	4300	6503	SO:0001583	missense	79865	exon2			TCTCCCCTTCAAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.100G>A	6.37:g.41166123C>T	ENSP00000418767:p.Gly34Arg		63	0	0		57	0.07	4	NM_024807	2	0.00	0	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	Missense_Mutation	SNP	ENST00000483722.1	37	CCDS4853.2	.	.	.	.	.	.	.	.	.	.	.	14.59	2.581804	0.46006	.	.	ENSG00000112195	ENST00000483722	D	0.81499	-1.5	4.75	4.75	0.60458	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000044	D	0.86623	0.5977	M	0.75085	2.285	0.40423	D	0.979861	D	0.89917	1.0	D	0.97110	1.0	D	0.88269	0.2928	10	0.72032	D	0.01	-23.1011	13.6225	0.62144	0.0:1.0:0.0:0.0	.	34	Q5T2D2	TRML2_HUMAN	R	34	ENSP00000418767:G34R	ENSP00000418767:G34R	G	-	1	0	TREML2	41274101	1.000000	0.71417	0.998000	0.56505	0.028000	0.11728	3.388000	0.52509	2.344000	0.79699	0.563000	0.77884	GGG			0.493	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043756.3		NM_024807	
SLC22A7	10864	mdanderson.org	37	6	43266352	43266352	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:43266352C>T	ENST00000372585.5	+	1	351	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	SLC22A7_ENST00000372574.3_Missense_Mutation_p.P86S|SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Missense_Mutation_p.P86S	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	86					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CTTTGCCTATCCCCAGGCTCT	0.642																																					p.P86S													.	.			0			c.C256T												42.0	41.0	42.0					6																	43266352		2203	4300	6503	SO:0001583	missense	10864	exon1			GCCTATCCCCAGG	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.256C>T	6.37:g.43266352C>T	ENSP00000361666:p.Pro86Ser		51	0	0		52	0.06	3	NM_153320	0		0	B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669426	0.47677	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.63	2.6	0.31112	Major facilitator superfamily domain (1);	0.180804	0.48286	N	0.000182	T	0.47040	0.1424	L	0.47016	1.485	0.36768	D	0.883668	B;B;B	0.22276	0.067;0.054;0.054	B;B;B	0.43990	0.438;0.206;0.168	T	0.51498	-0.8698	10	0.52906	T	0.07	.	4.8369	0.13469	0.1511:0.6154:0.1465:0.0871	.	86;86;86	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	S	86	ENSP00000411818:P86S;ENSP00000361670:P86S;ENSP00000361666:P86S;ENSP00000361655:P86S	ENSP00000361655:P86S	P	+	1	0	SLC22A7	43374330	0.583000	0.26757	0.313000	0.25210	0.975000	0.68041	1.213000	0.32407	0.660000	0.30964	0.563000	0.77884	CCC			0.642	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000040588.1			
HMGN3	9324	broad.mit.edu	37	6	79912054	79912054	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:79912054T>C	ENST00000344726.5	-	5	328	c.200A>G	c.(199-201)aAg>aGg	p.K67R	HMGN3_ENST00000275036.7_Missense_Mutation_p.K67R	NM_001201362.1|NM_001201363.1|NM_004242.3	NP_001188291.1|NP_001188292.1|NP_004233.1	Q15651	HMGN3_HUMAN	high mobility group nucleosomal binding domain 3	67					chromatin modification (GO:0016568)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|thyroid hormone receptor binding (GO:0046966)			central_nervous_system(1)|kidney(2)|lung(1)	4		all_cancers(76;0.000116)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0393)		BRCA - Breast invasive adenocarcinoma(397;0.125)		AGCTTCCTGCTTTTCCTCCTT	0.433																																					p.K67R													.	HMGN3	8		0			c.A200G												247.0	228.0	235.0					6																	79912054		2203	4300	6503	SO:0001583	missense	9324	exon5			TCCTGCTTTTCCT	L40357	CCDS4988.1, CCDS4989.1, CCDS75485.1	6q14.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000118418	ENSG00000118418		"""High-mobility group / Canonical"""	12312	protein-coding gene	gene with protein product		604502	"""thyroid hormone receptor interactor 7"""	TRIP7		7776974, 11356838	Standard	NM_004242		Approved		uc021zbz.1	Q15651	OTTHUMG00000015073	ENST00000344726.5:c.200A>G	6.37:g.79912054T>C	ENSP00000341267:p.Lys67Arg		126	0	0		99	0.04	4	NM_001201362	587	0.00	0	B2RD37|Q5HYD3|Q7RTT0|Q969M5|Q9BZT7	Missense_Mutation	SNP	ENST00000344726.5	37	CCDS4988.1	.	.	.	.	.	.	.	.	.	.	T	14.67	2.604148	0.46423	.	.	ENSG00000118418	ENST00000344726;ENST00000275036	.	.	.	5.36	5.36	0.76844	.	0.160627	0.56097	D	0.000036	T	0.41789	0.1174	.	.	.	0.44323	D	0.997204	P;P	0.41784	0.762;0.59	B;B	0.42245	0.381;0.263	T	0.37384	-0.9708	7	.	.	.	.	14.6915	0.69091	0.0:0.0:0.0:1.0	.	67;67	Q15651;Q15651-2	HMGN3_HUMAN;.	R	67	.	.	K	-	2	0	HMGN3	79968773	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.864000	0.48404	2.251000	0.74343	0.533000	0.62120	AAG			0.433	HMGN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041300.1		NM_004242	
HTR1E	3354	hgsc.bcm.edu	37	6	87725676	87725676	+	Silent	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr6:87725676G>T	ENST00000305344.5	+	2	1327	c.624G>T	c.(622-624)gcG>gcT	p.A208A		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	208			A -> T (in dbSNP:rs3828741).		adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.A208A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TTTACCACGCGGCCAAGAGCC	0.443																																					p.A208A													HTR1E,NS,carcinoma,+1,4	HTR1E	1	4	1	Substitution - coding silent(1)	large_intestine(1)	c.G624T												89.0	88.0	89.0					6																	87725676		2203	4300	6503	SO:0001819	synonymous_variant	3354	exon2			CCACGCGGCCAAG		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.624G>T	6.37:g.87725676G>T			118	0	0		98	0.04	4	NM_000865	0		0	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																					0.443	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000472488.2		NM_000865	
MAD1L1	8379	mdanderson.org	37	7	1976498	1976498	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr7:1976498G>T	ENST00000406869.1	-	17	2189	c.1632C>A	c.(1630-1632)caC>caA	p.H544Q	MAD1L1_ENST00000399654.2_Missense_Mutation_p.H544Q|MAD1L1_ENST00000402746.1_Missense_Mutation_p.H452Q|MAD1L1_ENST00000265854.7_Missense_Mutation_p.H544Q			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	544					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCAGGCTCATGTGCAGCACTT	0.657																																					p.H544Q													.	.			0			c.C1632A												33.0	39.0	37.0					7																	1976498		2196	4284	6480	SO:0001583	missense	8379	exon17			GCTCATGTGCAGC	U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.1632C>A	7.37:g.1976498G>T	ENSP00000385334:p.His544Gln		71	0	0		52	0.06	3	NM_003550	106	0.00	0	B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	Missense_Mutation	SNP	ENST00000406869.1	37	CCDS43539.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.806866	0.50421	.	.	ENSG00000002822	ENST00000402746;ENST00000399654;ENST00000406869;ENST00000442131;ENST00000265854;ENST00000450235	T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87	4.6	3.66	0.41972	.	0.000000	0.85682	D	0.000000	T	0.38852	0.1056	M	0.84683	2.71	0.48087	D	0.999588	P;P;P	0.50272	0.924;0.933;0.933	P;P;P	0.49012	0.587;0.513;0.598	T	0.27191	-1.0081	10	0.31617	T	0.26	-36.4877	9.6107	0.39661	0.1141:0.0:0.8859:0.0	.	543;452;544	A4D218;B3KR41;Q9Y6D9	.;.;MD1L1_HUMAN	Q	452;544;544;95;544;95	ENSP00000384155:H452Q;ENSP00000382562:H544Q;ENSP00000385334:H544Q;ENSP00000265854:H544Q;ENSP00000394886:H95Q	ENSP00000265854:H544Q	H	-	3	2	MAD1L1	1943024	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	1.879000	0.39618	0.819000	0.34492	-0.378000	0.06908	CAC			0.657	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000322871.1		NM_003550	
RADIL	55698	mdanderson.org	37	7	4841526	4841526	+	Missense_Mutation	SNP	C	C	T	rs199920495	byFrequency	TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr7:4841526C>T	ENST00000399583.3	-	12	2787	c.2600G>A	c.(2599-2601)cGt>cAt	p.R867H	RADIL_ENST00000538469.1_Missense_Mutation_p.R627H|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	867	Pro-rich.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGAAGAGTACGCTCCGGGGC	0.736													C|||	2	0.000399361	0.0	0.0014	5008	,	,		12778	0.0		0.001	False		,,,				2504	0.0				p.R867H													.	.			0			c.G2600A												5.0	6.0	5.0					7																	4841526		1551	3623	5174	SO:0001583	missense	55698	exon12			AGAGTACGCTCCG	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2600G>A	7.37:g.4841526C>T	ENSP00000382492:p.Arg867His		81	0	0		71	0.06	4	NM_018059	17	0.00	0	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	7.555	0.663481	0.14710	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.06768	3.33;3.26	4.77	-6.29	0.02013	.	1.499190	0.04128	N	0.317511	T	0.02342	0.0072	N	0.01352	-0.895	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.42378	-0.9455	10	0.27785	T	0.31	-0.3238	3.9503	0.09366	0.1365:0.1647:0.1029:0.5959	.	867;175	Q96JH8;Q75LH2	RADIL_HUMAN;.	H	867;838;601;627	ENSP00000382492:R867H;ENSP00000442966:R627H	ENSP00000320946:R838H	R	-	2	0	RADIL	4808052	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.594000	0.05733	-1.045000	0.03250	-1.012000	0.02466	CGT	0		0.736	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323769.2		NM_018059	
PHKG1	5260	mdanderson.org	37	7	56148879	56148879	+	Silent	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr7:56148879G>T	ENST00000297373.2	-	10	1226	c.1032C>A	c.(1030-1032)cgC>cgA	p.R344R	PHKG1_ENST00000537360.1_Silent_p.R290R|PHKG1_ENST00000452681.2_Silent_p.R376R|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	344	Calmodulin-binding (domain-C).				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGATGAGCCGGCGCAGAGGCC	0.632																																					p.R376R	Melanoma(184;580 2064 5329 24177 35303)												.	.			0			c.C1128A												61.0	59.0	59.0					7																	56148879		2203	4300	6503	SO:0001819	synonymous_variant	5260	exon11			GAGCCGGCGCAGA	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.1032C>A	7.37:g.56148879G>T			50	0	0		48	0.06	3	NM_001258459	0		0	B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	CCDS5525.1																																																																																					0.632	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251587.1		NM_006213	
GIMAP5	55340	mdanderson.org	37	7	150440050	150440050	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr7:150440050G>T	ENST00000358647.3	+	3	1190	c.823G>T	c.(823-825)Gtc>Ttc	p.V275F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	275					myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCTCAGAGTCAAACACTT	0.408																																					p.V479F													.	.			0			c.G1435T												94.0	70.0	78.0					7																	150440050		2203	4300	6503	SO:0001583	missense	0	exon6			CTCAGAGTCAAAC	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.823G>T	7.37:g.150440050G>T	ENSP00000351473:p.Val275Phe		69	0	0		56	0.05	3	NM_001199577	28	0.00	0	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	13.64	2.297425	0.40694	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.05925	3.37	4.12	-1.46	0.08800	.	1.034890	0.07619	N	0.926768	T	0.06234	0.0161	L	0.38175	1.15	0.09310	N	1	P	0.51933	0.949	B	0.43331	0.416	T	0.37979	-0.9682	10	0.56958	D	0.05	.	6.032	0.19684	0.1936:0.4564:0.35:0.0	.	275	Q96F15	GIMA5_HUMAN	F	275;311	ENSP00000351473:V275F	ENSP00000351473:V275F	V	+	1	0	GIMAP5	150070983	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.649000	0.24843	-0.196000	0.10366	-0.312000	0.09012	GTC			0.408	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000349108.2		NM_018384	
ANK1	286	broad.mit.edu;mdanderson.org	37	8	41575645	41575645	+	Silent	SNP	G	G	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr8:41575645G>A	ENST00000347528.4	-	11	1268	c.1185C>T	c.(1183-1185)gcC>gcT	p.A395A	ANK1_ENST00000396942.1_Silent_p.A395A|ANK1_ENST00000289734.7_Silent_p.A395A|ANK1_ENST00000265709.8_Silent_p.A428A|ANK1_ENST00000396945.1_Silent_p.A395A|ANK1_ENST00000379758.2_Silent_p.A395A|ANK1_ENST00000352337.4_Silent_p.A395A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	395	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CGTCGATCGAGGCTCCCGTCT	0.597																																					p.A428A													.	ANK1	497		0			c.C1284T												72.0	63.0	66.0					8																	41575645		2203	4300	6503	SO:0001819	synonymous_variant	286	exon11			GATCGAGGCTCCC	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.1185C>T	8.37:g.41575645G>A			42	0.0238095238	1		48	0.08	4	NM_001142446	13	0.08	1	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	CCDS6119.1																																																																																					0.597	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317297.1		NM_020475	
ARHGAP39	80728	mdanderson.org	37	8	145830925	145830925	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr8:145830925G>T	ENST00000276826.5	-	1	276	c.75C>A	c.(73-75)aaC>aaA	p.N25K	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.N25K|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.N25K			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	25	WW 1. {ECO:0000255|PROSITE- ProRule:PRU00224}.				axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CTTACCGAGTGTTCGACCCTG	0.607																																					p.N25K													.	.			0			c.C75A												107.0	85.0	93.0					8																	145830925		2203	4300	6503	SO:0001583	missense	80728	exon3			CCGAGTGTTCGAC		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.75C>A	8.37:g.145830925G>T	ENSP00000276826:p.Asn25Lys		55	0	0		42	0.07	3	NM_025251	22	0.00	0	B4E1I1	Missense_Mutation	SNP	ENST00000276826.5	37		.	.	.	.	.	.	.	.	.	.	G	6.918	0.538957	0.13250	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.21543	2.0;2.0;2.0	4.89	0.938	0.19500	WW/Rsp5/WWP (1);	0.597738	0.16341	N	0.218698	T	0.07593	0.0191	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39881	-0.9592	10	0.06494	T	0.89	-3.5655	6.6485	0.22949	0.4081:0.0:0.5919:0.0	.	25;25	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	K	25	ENSP00000276826:N25K;ENSP00000366522:N25K;ENSP00000445075:N25K	ENSP00000276826:N25K	N	-	3	2	ARHGAP39	145801733	0.959000	0.32827	0.962000	0.40283	0.208000	0.24298	0.086000	0.14935	0.460000	0.27045	0.561000	0.74099	AAC			0.607	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000382509.1			
Unknown	0	bcgsc.ca	37	9	69067877	69067877	+	IGR	SNP	C	C	G	rs142875097		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr9:69067877C>G								MIR1299 (65556 upstream) : PGM5P2 (12362 downstream)																							agaaaaagagcaaagataaga	0.289																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			AAAGAGCAAAGAT																													9.37:g.69067877C>G			38	0.0263157895	1		25	0.48	12	.	8	0.00	0		RNA	SNP		37																																																																																					0	0.289										
CCBL1	883	mdanderson.org	37	9	131598073	131598073	+	Silent	SNP	G	G	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr9:131598073G>A	ENST00000302586.3	-	9	1002	c.840C>T	c.(838-840)tgC>tgT	p.C280C	CCBL1_ENST00000436267.2_Silent_p.C374C|CCBL1_ENST00000320665.6_Silent_p.C230C|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	280					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	TCTGCGTGGGGCAGTGGAAGA	0.652																																					p.C280C													CCBL1,NS,carcinoma,-2,1	CCBL1	-2	1	0			c.C840T												29.0	32.0	31.0					9																	131598073		2016	4185	6201	SO:0001819	synonymous_variant	883	exon9			CGTGGGGCAGTGG	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.840C>T	9.37:g.131598073G>A			45	0.0222222222	1		36	0.08	3	NM_001122671	2	0.00	0	Q5T275|Q8N191	Silent	SNP	ENST00000302586.3	37	CCDS43884.1																																																																																					0.652	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054521.2			
REXO4	57109	mdanderson.org	37	9	136277900	136277900	+	Silent	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr9:136277900G>T	ENST00000371942.3	-	3	913	c.714C>A	c.(712-714)ggC>ggA	p.G238G	REXO4_ENST00000478037.1_5'UTR|REXO4_ENST00000371935.2_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	238					regulation of transcription, DNA-templated (GO:0006355)	nucleolus (GO:0005730)|nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		CAGCGTACCCGCCGAAGGCCT	0.612																																					p.G238G													.	.			0			c.C714A												76.0	57.0	63.0					9																	136277900		2203	4300	6503	SO:0001819	synonymous_variant	57109	exon3			GTACCCGCCGAAG	AF273304	CCDS6969.1, CCDS65179.1	9q34	2008-02-05	2005-08-22	2005-08-22	ENSG00000148300	ENSG00000148300			12820	protein-coding gene	gene with protein product		602930	"""Xenopus prevents mitotic catatrophe 2 homolog"", ""XPMC2 prevents mitotic catastrophe 2 homolog (Xenopus laevis)"""	XPMC2H		9325058	Standard	NM_020385		Approved		uc004cdm.3	Q9GZR2	OTTHUMG00000020870	ENST00000371942.3:c.714C>A	9.37:g.136277900G>T			20	0	0		23	0.09	2	NM_020385	103	0.00	0	B2RAT2|Q5T8S4|Q5T8S5|Q5T8S6|Q9GZW3	Silent	SNP	ENST00000371942.3	37	CCDS6969.1																																																																																					0.612	REXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054899.1			
TBC1D25	4943	broad.mit.edu	37	X	48418342	48418342	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chrX:48418342G>T	ENST00000376771.4	+	6	1387	c.1046G>T	c.(1045-1047)gGc>gTc	p.G349V	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.G95V	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	349	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GACCATGAGGGCCATGCCTTT	0.587																																					p.G349V													.	TBC1D25	70		0			c.G1046T												48.0	33.0	38.0					X																	48418342		2203	4300	6503	SO:0001583	missense	4943	exon6			ATGAGGGCCATGC	L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1046G>T	X.37:g.48418342G>T	ENSP00000365962:p.Gly349Val		51	0	0		41	0.07	3	NM_002536	16	0.00	0	Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.433113	0.43224	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.10860	2.83;2.83	5.78	5.78	0.91487	Rab-GAP/TBC domain (4);	0.057832	0.64402	D	0.000001	T	0.05181	0.0138	N	0.01656	-0.775	0.58432	D	0.999999	B;B;B	0.33448	0.412;0.412;0.023	B;B;B	0.38225	0.268;0.268;0.078	T	0.54166	-0.8334	10	0.29301	T	0.29	-8.9415	12.0397	0.53446	0.0:0.169:0.831:0.0	.	353;291;349	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	V	349;95	ENSP00000365962:G349V;ENSP00000444091:G95V	ENSP00000365962:G349V	G	+	2	0	TBC1D25	48303286	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.310000	0.72830	2.449000	0.82847	0.523000	0.50628	GGC			0.587	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060764.2		NM_002536	
TMEM185A	84548	broad.mit.edu	37	X	148690471	148690471	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chrX:148690471C>T	ENST00000316916.8	-	3	570	c.266G>A	c.(265-267)gGc>gAc	p.G89D	TMEM185A_ENST00000536359.1_Missense_Mutation_p.G30D|TMEM185A_ENST00000507237.1_Missense_Mutation_p.G89D	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	89						dendrite (GO:0030425)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGTGGATGCCCACTGCAAT	0.453																																					p.G89D													.	TMEM185A	26		0			c.G266A												170.0	146.0	154.0					X																	148690471		2202	4299	6501	SO:0001583	missense	84548	exon3			TGGATGCCCACTG	AF353675	CCDS14689.1, CCDS55523.1, CCDS76041.1	Xq28	2014-01-28	2007-02-05	2007-02-05	ENSG00000155984	ENSG00000269556			17125	protein-coding gene	gene with protein product		300031	"""chromosome X open reading frame 13"", ""family with sequence similarity 11, member A"""	CXorf13, FAM11A		12404111	Standard	NM_032508		Approved		uc022cgl.1	Q8NFB2	OTTHUMG00000022625	ENST00000316916.8:c.266G>A	X.37:g.148690471C>T	ENSP00000359449:p.Gly89Asp		169	0	0		182	0.02	4	NM_032508	17	0.00	0	B3KTZ3|Q3SYH1|Q96CW3|Q96KE8	Missense_Mutation	SNP	ENST00000316916.8	37	CCDS14689.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.706172	0.68615	.	.	ENSG00000155984	ENST00000316916;ENST00000536359;ENST00000507237;ENST00000511776	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	5.46	5.46	0.80206	.	0.050556	0.85682	D	0.000000	T	0.24353	0.0590	L	0.53249	1.67	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.002	B;B;B	0.14023	0.01;0.006;0.004	T	0.02269	-1.1185	10	0.32370	T	0.25	-10.6637	17.2137	0.86937	0.0:1.0:0.0:0.0	.	89;30;89	Q8NFB2;F5H5U0;E7EMM1	T185A_HUMAN;.;.	D	89;30;89;30	ENSP00000359449:G89D;ENSP00000443119:G30D;ENSP00000427766:G89D;ENSP00000428659:G30D	ENSP00000359449:G89D	G	-	2	0	TMEM185A	148498267	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.438000	0.80431	2.275000	0.75901	0.513000	0.50165	GGC			0.453	TMEM185A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058710.4		NM_032508	
GYG2P1	352887	hgsc.bcm.edu	37	Y	14532067	14532067	+	RNA	SNP	T	T	A			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chrY:14532067T>A	ENST00000493160.1	-	0	0									glycogenin 2 pseudogene 1																		CTCTCACCCATGCCAGTAGGA	0.637													T	1	0.00081103	0.0	0.0029	1233	,	,		33554	0.0		0.0	False		,,,				1233	0.0				.													.	.			0			.																																											352887	.			CACCCATGCCAGT			Yq11.21	2010-07-02	2010-03-19	2010-03-19	ENSG00000206159	ENSG00000206159			4701	pseudogene	pseudogene			"""glycogenin 2 pseudogene"""	GYG2P		10542153	Standard	NR_033667		Approved		uc022cji.1		OTTHUMG00000036382		Y.37:g.14532067T>A			66	0	0		60	0.12	7	.	0		0		RNA	SNP	ENST00000493160.1	37																																																																																						0.637	GYG2P1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000088556.1		NG_002811	
FOLR3	2352	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	71850732	71850732	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr11:71850732G>T	ENST00000445078.2	+	5	786	c.715G>T	c.(715-717)Gtc>Ttc	p.V239F	FOLR3_ENST00000456237.1_Missense_Mutation_p.V241F|FOLR3_ENST00000442948.2_Missense_Mutation_p.V198F			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	197					folic acid transport (GO:0015884)	extracellular region (GO:0005576)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)	folic acid binding (GO:0005542)			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CTCCTTCAAGGTCAGCAACTA	0.597																																					.													.	.			0			.												39.0	42.0	41.0					11																	71850732		2200	4293	6493	SO:0001583	missense	2352	.			TTCAAGGTCAGCA	U08471	CCDS73344.1	11q13.4	2012-11-14			ENSG00000110203	ENSG00000110203			3795	protein-coding gene	gene with protein product		602469				8110752	Standard	NM_000804		Approved	FR-G	uc001orx.1	P41439	OTTHUMG00000167870	ENST00000445078.2:c.715G>T	11.37:g.71850732G>T	ENSP00000390338:p.Val239Phe		161	0	0		185	0.26	49	.	2	0.50	1	J3KQ90|Q05C14	Missense_Mutation	SNP	ENST00000445078.2	37		.	.	.	.	.	.	.	.	.	.	N	7.901	0.734368	0.15574	.	.	ENSG00000110203	ENST00000445078;ENST00000456237;ENST00000442948	T;T;T	0.79033	-1.23;-1.23;-1.23	2.94	2.94	0.34122	Folate receptor-like (1);	0.354373	0.21954	U	0.066687	T	0.65616	0.2708	.	.	.	0.26957	N	0.965893	B;B	0.27700	0.122;0.186	B;B	0.35688	0.1;0.208	T	0.54282	-0.8317	8	.	.	.	.	7.3434	0.26650	0.0:0.0:0.7387:0.2613	.	241;197	E9PGT2;P41439	.;FOLR3_HUMAN	F	239;241;198	ENSP00000390338:V239F;ENSP00000399235:V241F;ENSP00000411161:V198F	.	V	+	1	0	FOLR3	71528380	0.997000	0.39634	0.964000	0.40570	0.028000	0.11728	1.847000	0.39299	1.638000	0.50547	0.467000	0.42956	GTC			0.597	FOLR3-001	NOVEL	upstream_ATG|basic	protein_coding	protein_coding		OTTHUMT00000396739.1		NM_000804	
SEPHS2	22928	mdanderson.org	37	16	30456678	30456678	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr16:30456678A>G	ENST00000478753.2	-	1	824	c.371T>C	c.(370-372)aTc>aCc	p.I124T	SEPHS2_ENST00000542752.1_Missense_Mutation_p.I67T|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I124T			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	124					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CCTCAGGGGGATGACGCAGGA	0.652																																					.	Esophageal Squamous(81;1142 1261 11202 24614 35697)												.	.			0			.												25.0	26.0	26.0					16																	30456678		1923	4109	6032	SO:0001583	missense	22928	.			AGGGGGATGACGC	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.371T>C	16.37:g.30456678A>G	ENSP00000418669:p.Ile124Thr		36	0	0		44	0.07	3	.	253	0.00	1	Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37		.	.	.	.	.	.	.	.	.	.	A	15.59	2.878727	0.51801	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.35789	1.29;1.29;1.29	5.46	5.46	0.80206	PurM, N-terminal-like (1);AIR synthase-related protein (1);	0.051260	0.85682	D	0.000000	T	0.31949	0.0813	L	0.31926	0.97	0.80722	D	1	B;B	0.26147	0.04;0.143	B;B	0.33690	0.088;0.168	T	0.09530	-1.0670	10	0.27785	T	0.31	-20.8829	13.7915	0.63143	1.0:0.0:0.0:0.0	.	124;67	Q99611;F5H8F9	SPS2_HUMAN;.	T	124;67;75;124	ENSP00000418669:I124T;ENSP00000443601:I67T;ENSP00000426234:I124T	ENSP00000390233:I75T	I	-	2	0	SEPHS2	30364179	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.822000	0.69265	2.201000	0.70794	0.533000	0.62120	ATC			0.652	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding		OTTHUMT00000109640.11		NM_012248	
TSPAN10	83882	mdanderson.org	37	17	79612324	79612324	+	RNA	SNP	C	C	G			TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr17:79612324C>G	ENST00000572675.1	+	0	343				TSPAN10_ENST00000328585.4_RNA			Q9H1Z9	TSN10_HUMAN	tetraspanin 10						establishment of protein localization to organelle (GO:0072594)	integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TCTGGGGGGGCCCCTGCCCGC	0.692																																					.													TSPAN10_ENST00000328585,caecum,carcinoma,0,1	TSPAN10_ENST00000328585	0	1	0			.												25.0	31.0	29.0					17																	79612324		1909	4115	6024			83882	.			GGGGGGCCCCTGC	BC032802		17q25.3	2013-10-02			ENSG00000182612	ENSG00000182612		"""Tetraspanins"""	29942	protein-coding gene	gene with protein product	"""oculospanin"""					12107410	Standard	NM_031945		Approved	OCSP	uc010die.3	Q9H1Z9	OTTHUMG00000178037		17.37:g.79612324C>G			38	0	0		35	0.09	3	.	0		0	Q8N548	Missense_Mutation	SNP	ENST00000572675.1	37		.	.	.	.	.	.	.	.	.	.	C	0.092	-1.166237	0.01673	.	.	ENSG00000182612	ENST00000328585;ENST00000540189	T	0.78246	-1.16	4.3	-0.241	0.13043	.	0.782647	0.11946	N	0.514143	T	0.50786	0.1636	N	0.16368	0.405	0.09310	N	1	B;B	0.21520	0.057;0.002	B;B	0.18561	0.022;0.012	T	0.35968	-0.9767	10	0.06099	T	0.92	-10.513	1.7831	0.03036	0.1264:0.4366:0.1342:0.3028	.	115;115	Q9H1Z9;Q6PJ65	TSN10_HUMAN;.	A	115	ENSP00000331620:P115A	ENSP00000331620:P115A	P	+	1	0	TSPAN10	77222729	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.919000	0.04017	-0.149000	0.11215	0.462000	0.41574	CCC			0.692	TSPAN10-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000440313.1		NM_031945	
MAPK8IP2	23542	mdanderson.org	37	22	51044140	51044140	+	Silent	SNP	C	C	T	rs374360769		TCGA-2G-AAGN-01A-11D-A42Y-10	TCGA-2G-AAGN-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	c75867f5-f606-4d61-8abb-24d385f39af4	dd5f28de-d18f-48ec-838e-d8e280234eda	g.chr22:51044140C>T	ENST00000399908.2	+	5	1910	c.1194C>T	c.(1192-1194)ccC>ccT	p.P398P	MAPK8IP2_ENST00000008876.5_Silent_p.P369P|MAPK8IP2_ENST00000329492.3_Silent_p.P663P|MAPK8IP2_ENST00000442429.2_Silent_p.P386P|MAPK8IP2_ENST00000341339.4_Silent_p.P284P|MAPK8IP2_ENST00000399912.1_Silent_p.P398P	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	664	Necessary for interaction with FGF13.				behavioral fear response (GO:0001662)|dendrite morphogenesis (GO:0048813)|MAPK cascade (GO:0000165)|nonassociative learning (GO:0046958)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of signal transduction (GO:0009967)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of JNK cascade (GO:0046328)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of receptor activity (GO:0010469)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal complex assembly (GO:0007172)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|neuronal postsynaptic density (GO:0097481)	beta-amyloid binding (GO:0001540)|kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATGCGGTGCCCGGCCCTGCCA	0.667																																					.													.	.			0			.							T	,	0,4186		0,0,2093	31.0	39.0	36.0		1991,1910	-10.3	0.3	22		36	1,8421		0,1,4210	no	coding-synonymous,coding-synonymous	MAPK8IP2	NM_012324.3,NM_016431.3	,	0,1,6303	TT,TC,CC		0.0119,0.0,0.0079	,	664/825,637/798	51044140	1,12607	2093	4211	6304	SO:0001819	synonymous_variant	23542	.			GGTGCCCGGCCCT	AL021708	CCDS74886.1	22q13.33	2010-04-06			ENSG00000008735	ENSG00000008735			6883	protein-coding gene	gene with protein product	"""islet-brain 2"", ""JNK-interacting protein 2"""	607755	"""PRKM8 interacting protein-like"""	PRKM8IPL		10490659	Standard	NM_012324		Approved	IB2, JIP2	uc003bmy.3	Q13387	OTTHUMG00000150181	ENST00000399908.2:c.1194C>T	22.37:g.51044140C>T			34	0	0		40	0.08	3	.	48	0.00	0	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Silent	SNP	ENST00000399908.2	37																																																																																						0.667	MAPK8IP2-002	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000316731.2		NM_012324	
