#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_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DDX11L1	100287102	broad.mit.edu	37	1	13550	13550	+	RNA	SNP	G	G	A	rs554008981	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:13550G>A	ENST00000456328.2	+	0	798					NR_046018.2|NR_051986.1				DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1																		TGTTTGTCATGGGCCTGGTCT	0.592													g|||	17	0.00339457	0.0008	0.0101	5008	,	,		39894	0.0		0.008	False		,,,				2504	0.001				.													.	.			0			.																																											0	.			TGTCATGGGCCTG	AM992871		1p36.33	2012-02-23	2012-02-23		ENSG00000223972	ENSG00000223972			37102	pseudogene	pseudogene			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1"""			19476624	Standard	NR_046018		Approved		uc010nxq.1		OTTHUMG00000000961		1.37:g.13550G>A			Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	29	0.28	8	.	1	0.00	0		RNA	SNP	ENST00000456328.2	37																																																																																						0.592	DDX11L1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000362751.1			
TTLL10	254173	mdanderson.org	37	1	1132855	1132855	+	Silent	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:1132855C>T	ENST00000379290.1	+	16	1823	c.1650C>T	c.(1648-1650)ggC>ggT	p.G550G	TTLL10_ENST00000379289.1_Silent_p.G550G			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	550	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCCTGCGCGGCCAGAAGATGT	0.716																																					p.G550G													.	.			0			c.C1650T												1.0	1.0	1.0					1																	1132855		197	503	700	SO:0001819	synonymous_variant	254173	exon16			GCGCGGCCAGAAG	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1650C>T	1.37:g.1132855C>T			Somatic	51	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_001130045	0		0	B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	ENST00000379290.1	37	CCDS44036.1																																																																																					0.716	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000002421.3		NM_153254	
PRAMEF4	400735	ucsc.edu	37	1	12939904	12939904	+	Missense_Mutation	SNP	A	A	C	rs3895133		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:12939904A>C	ENST00000235349.5	-	4	968	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	300					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTGAGGAACTTTAACGAG	0.483																																					p.F300V													.	PRAMEF4	62		0			c.T898G												50.0	69.0	62.0					1																	12939904		1404	2644	4048	SO:0001583	missense	400735	exon4			TGAGGAACTTTAA		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.898T>G	1.37:g.12939904A>C	ENSP00000235349:p.Phe300Val		Somatic	25	0.24	6		WXS	Illumina HiSeq		38	0.18	7	NM_001009611	6	0.00	0	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	t	1.416	-0.574302	0.03882	.	.	ENSG00000243073	ENST00000235349	T	0.38887	1.11	1.48	-2.96	0.05547	.	1.221790	0.05721	N	0.597800	T	0.18759	0.0450	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09207	-1.0685	10	0.37606	T	0.19	.	3.305	0.06997	0.5711:0.149:0.0:0.2799	.	300	O60810	PRAM4_HUMAN	V	300	ENSP00000235349:F300V	ENSP00000235349:F300V	F	-	1	0	PRAMEF4	12862491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.518000	0.02246	-3.281000	0.00197	-4.216000	0.00009	TTC			0.483	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005518.1		NM_001009611	
ASAP3	55616	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	23763530	23763530	+	Silent	SNP	C	C	A	rs565361291		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:23763530C>A	ENST00000336689.3	-	15	1394	c.1350G>T	c.(1348-1350)acG>acT	p.T450T	ASAP3_ENST00000437606.2_Silent_p.T441T|ASAP3_ENST00000495646.1_5'Flank	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	450	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGCTGAGCCACGTGGGGTCTG	0.682																																					p.T450T													.	.			0			c.G1350T												28.0	25.0	26.0					1																	23763530		2199	4297	6496	SO:0001819	synonymous_variant	55616	exon15			GAGCCACGTGGGG	AK000206	CCDS235.1, CCDS44087.1	1p36.13	2013-01-10	2008-10-09	2008-09-22	ENSG00000088280	ENSG00000088280		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	14987	protein-coding gene	gene with protein product	"""centaurin, beta 6"""		"""development and differentiation enhancing factor-like 1"""	DDEFL1		14654939	Standard	NM_017707		Approved	FLJ20199, UPLC1, CENTB6	uc001bha.2	Q8TDY4	OTTHUMG00000003234	ENST00000336689.3:c.1350G>T	1.37:g.23763530C>A			Somatic	69	0	0		WXS	Illumina HiSeq	.	98	0.27	26	NM_017707	27	0.48	13	B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2	Silent	SNP	ENST00000336689.3	37	CCDS235.1																																																																																					0.682	ASAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000008916.2		NM_017707	
RCC1	1104	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	28857097	28857097	+	Intron	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:28857097C>T	ENST00000373833.6	+	5	358				RCC1_ENST00000398958.2_Intron|RCC1_ENST00000373831.3_Missense_Mutation_p.P46S|RCC1_ENST00000373832.1_Intron			P18754	RCC1_HUMAN	regulator of chromosome condensation 1						chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGCGGGCCGAGCCCTCC	0.716																																					p.P46S													.	RCC1	61		0			c.C136T												11.0	14.0	13.0					1																	28857097		2026	4145	6171	SO:0001627	intron_variant	1104	exon3			TGCGGGCCGAGCC	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.73+646C>T	1.37:g.28857097C>T			Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	25	0.20	5	NM_001048194	2	0.00	0	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	C	4.610	0.113298	0.08831	.	.	ENSG00000180198	ENST00000373831	T	0.53423	0.62	3.81	2.9	0.33743	.	1.260670	0.05604	N	0.576832	T	0.29976	0.0750	.	.	.	0.18873	N	0.999989	B	0.21520	0.057	B	0.32864	0.154	T	0.33420	-0.9869	9	0.07325	T	0.83	-0.0379	7.3875	0.26891	0.0:0.8815:0.0:0.1185	.	46	P18754-2	.	S	46	ENSP00000362937:P46S	ENSP00000362937:P46S	P	+	1	0	RCC1	28729684	0.459000	0.25768	0.013000	0.15412	0.015000	0.08874	3.018000	0.49625	1.201000	0.43203	-0.192000	0.12808	CCG			0.716	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000010323.3		NM_001269	
FAM73A	374986	broad.mit.edu	37	1	78245408	78245408	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:78245408G>T	ENST00000370791.3	+	1	100	c.68G>T	c.(67-69)gGc>gTc	p.G23V	RNA5SP21_ENST00000410917.1_RNA|FAM73A_ENST00000443751.2_Missense_Mutation_p.G23V	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	23						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GCTGTACCTGGCCTGGAGCTC	0.692																																					p.G23V													.	FAM73A	56		0			c.G68T												5.0	5.0	5.0					1																	78245408		2143	4182	6325	SO:0001583	missense	374986	exon1			TACCTGGCCTGGA		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.68G>T	1.37:g.78245408G>T	ENSP00000359827:p.Gly23Val		Somatic	70	0.0142857143	1		WXS	Illumina HiSeq	Phase_I	80	0.11	9	NM_198549	9	0.00	0	Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.897885	0.33535	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.39056	1.77;1.1	4.61	0.387	0.16259	.	0.980175	0.08281	N	0.969998	T	0.09423	0.0232	N	0.08118	0	0.09310	N	1	B;B;B	0.18968	0.032;0.019;0.019	B;B;B	0.21917	0.037;0.017;0.017	T	0.39563	-0.9608	10	0.87932	D	0	8.6355	7.5628	0.27862	0.0968:0.5115:0.3917:0.0	.	23;23;23	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	V	23	ENSP00000359827:G23V;ENSP00000393675:G23V	ENSP00000359827:G23V	G	+	2	0	FAM73A	78017996	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.449000	0.21744	0.201000	0.20466	-0.172000	0.13284	GGC			0.692	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000026931.1		NM_198549	
IGSF3	3321	mdanderson.org	37	1	117150780	117150780	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:117150780G>T	ENST00000369486.3	-	5	1771	c.1006C>A	c.(1006-1008)Ctc>Atc	p.L336I	IGSF3_ENST00000369483.1_Missense_Mutation_p.L336I|IGSF3_ENST00000318837.6_Missense_Mutation_p.L336I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	336	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCGCTGTTGAGGACAGGCACA	0.567																																					p.L336I													.	.			0			c.C1006A												33.0	32.0	32.0					1																	117150780		2202	4298	6500	SO:0001583	missense	3321	exon5			TGTTGAGGACAGG	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.1006C>A	1.37:g.117150780G>T	ENSP00000358498:p.Leu336Ile		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	133	0.04	5	NM_001542	22	0.00	0	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706561	0.89018	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64991	-0.13;-0.13;-0.13	4.67	4.67	0.58626	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	T	0.64034	0.2562	L	0.32530	0.975	0.58432	D	0.999999	P;D;P	0.89917	0.702;1.0;0.747	P;D;P	0.91635	0.699;0.999;0.801	T	0.67304	-0.5704	10	0.59425	D	0.04	-43.6551	15.4322	0.75108	0.0:0.0:1.0:0.0	.	336;336;336	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	I	336	ENSP00000358498:L336I;ENSP00000358495:L336I;ENSP00000321184:L336I	ENSP00000321184:L336I	L	-	1	0	IGSF3	116952303	1.000000	0.71417	0.993000	0.49108	0.962000	0.63368	6.911000	0.75746	2.571000	0.86741	0.557000	0.71058	CTC			0.567	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000059040.1		NM_001542	
COLGALT2	23127	broad.mit.edu	37	1	183933106	183933106	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:183933106A>G	ENST00000361927.4	-	6	1252	c.881T>C	c.(880-882)aTc>aCc	p.I294T	COLGALT2_ENST00000546159.1_Missense_Mutation_p.I294T|COLGALT2_ENST00000367520.3_Missense_Mutation_p.I31T	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	294					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										CTTCAGGGGGATGGGCAGGTA	0.527																																					p.I294T													.	.			0			c.T881C												154.0	121.0	132.0					1																	183933106		2203	4300	6503	SO:0001583	missense	23127	exon6			AGGGGGATGGGCA	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.881T>C	1.37:g.183933106A>G	ENSP00000354960:p.Ile294Thr		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	183	0.03	5	NM_015101	2	0.00	0	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	37	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.464178	0.63513	.	.	ENSG00000198756	ENST00000546159;ENST00000361927;ENST00000367520	T;T	0.25912	1.77;1.77	5.74	5.74	0.90152	.	0.224837	0.44688	D	0.000438	T	0.12902	0.0313	N	0.02539	-0.55	0.45704	D	0.998619	P;B;B	0.38195	0.622;0.227;0.142	B;B;B	0.36092	0.217;0.101;0.028	T	0.23511	-1.0186	10	0.52906	T	0.07	.	16.0202	0.80478	1.0:0.0:0.0:0.0	.	294;294;31	F5H3T5;Q8IYK4;Q5SXQ3	.;GT252_HUMAN;.	T	294;294;31	ENSP00000439112:I294T;ENSP00000354960:I294T	ENSP00000354960:I294T	I	-	2	0	GLT25D2	182199729	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.952000	0.93031	2.182000	0.69389	0.533000	0.62120	ATC			0.527	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086128.1		NM_015101	
TRIM67	440730	mdanderson.org	37	1	231299311	231299311	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:231299311C>A	ENST00000366653.5	+	1	596	c.596C>A	c.(595-597)aCg>aAg	p.T199K	TRIM67_ENST00000366652.2_Missense_Mutation_p.T199K|TRIM67_ENST00000444294.3_Missense_Mutation_p.T199K|TRIM67_ENST00000449018.3_Missense_Mutation_p.T159K			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	199					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GTGCCGGGGACGTCTGCAGCC	0.731																																					p.T199K													.	.			0			c.C596A												3.0	5.0	4.0					1																	231299311		1557	3073	4630	SO:0001583	missense	440730	exon1			CGGGGACGTCTGC	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.596C>A	1.37:g.231299311C>A	ENSP00000355613:p.Thr199Lys		Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	23	0.13	3	NM_001004342	0		0	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	0.218	-1.030888	0.02045	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.70516	-0.49;-0.4;-0.36;-0.49	4.2	4.2	0.49525	.	0.247549	0.30383	N	0.009746	T	0.44664	0.1304	N	0.04297	-0.235	0.24165	N	0.995648	B	0.06786	0.001	B	0.01281	0.0	T	0.08764	-1.0706	10	0.06891	T	0.86	.	14.066	0.64828	0.0:1.0:0.0:0.0	.	199	Q6ZTA4	TRI67_HUMAN	K	199;199;159;199	ENSP00000412124:T199K;ENSP00000355612:T199K;ENSP00000400163:T159K;ENSP00000355613:T199K	ENSP00000355612:T199K	T	+	2	0	TRIM67	229365934	0.961000	0.32948	0.908000	0.35775	0.109000	0.19521	2.229000	0.42990	2.163000	0.67991	0.313000	0.20887	ACG			0.731	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092649.3		NM_001004342	
IRF2BP2	359948	mdanderson.org	37	1	234745193	234745193	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:234745193G>T	ENST00000366609.3	-	1	78	c.48C>A	c.(46-48)tgC>tgA	p.C16*	RP4-781K5.2_ENST00000436039.1_RNA|IRF2BP2_ENST00000366610.3_Nonsense_Mutation_p.C16*|IRF2BP2_ENST00000491430.1_5'Flank	NM_182972.2	NP_892017.2	Q7Z5L9	I2BP2_HUMAN	interferon regulatory factor 2 binding protein 2	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			CACACAGGTAGCACGACTGCC	0.746																																					p.C16X													.	.			0			c.C48A												8.0	8.0	8.0					1																	234745193		2127	4192	6319	SO:0001587	stop_gained	359948	exon1			CAGGTAGCACGAC	AY278023	CCDS1602.1, CCDS41475.1	1q42.3	2008-02-05			ENSG00000168264	ENSG00000168264			21729	protein-coding gene	gene with protein product		615332				12799427	Standard	NM_182972		Approved	IRF-2BP2	uc001hwg.3	Q7Z5L9	OTTHUMG00000037981	ENST00000366609.3:c.48C>A	1.37:g.234745193G>T	ENSP00000355568:p.Cys16*		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_182972	28	0.00	0	B1AM35|B1AM36|Q6P083|Q7Z5L8|Q8N351|Q8WUH8	Nonsense_Mutation	SNP	ENST00000366609.3	37	CCDS1602.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.556858	0.27827	.	.	ENSG00000168264	ENST00000366610;ENST00000366609	.	.	.	2.65	1.54	0.23209	.	0.123889	0.56097	U	0.000037	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6692	0.17713	0.3204:0.0:0.6796:0.0	.	.	.	.	X	16	.	ENSP00000355568:C16X	C	-	3	2	IRF2BP2	232811816	.	.	0.950000	0.38849	0.034000	0.12701	.	.	1.300000	0.44818	0.435000	0.28638	TGC			0.746	IRF2BP2-002	NOVEL	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000092705.1		NM_182972	
ZNF496	84838	broad.mit.edu	37	1	247492680	247492680	+	Silent	SNP	G	G	A	rs140768491		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr1:247492680G>A	ENST00000294753.4	-	3	665	c.201C>T	c.(199-201)tgC>tgT	p.C67C	ZNF496_ENST00000366498.2_Silent_p.C67C	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	67	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCCAGCCCCCGCACAGGTCCC	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13156	0.0		0.0	False		,,,				2504	0.0				p.C67C													.	ZNF496	80		0			c.C201T							G		0,4400		0,0,2200	18.0	23.0	21.0		201	2.4	1.0	1	dbSNP_134	21	2,8586		0,2,4292	no	coding-synonymous	ZNF496	NM_032752.1		0,2,6492	AA,AG,GG		0.0233,0.0,0.0154		67/588	247492680	2,12986	2200	4294	6494	SO:0001819	synonymous_variant	84838	exon3			GCCCCCGCACAGG	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.201C>T	1.37:g.247492680G>A			Somatic	101	0.0099009901	1		WXS	Illumina HiSeq	Phase_I	134	0.03	4	NM_032752	31	0.00	0	Q8TBS2	Silent	SNP	ENST00000294753.4	37	CCDS1631.1																																																																																					0.697	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098655.2		NM_032752	
BICC1	80114	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	60560687	60560687	+	Silent	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr10:60560687A>G	ENST00000373886.3	+	14	1900	c.1896A>G	c.(1894-1896)cgA>cgG	p.R632R	BICC1_ENST00000263103.1_Silent_p.R258R	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	632					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GCATGCCTCGAAGTCCTTCCC	0.438																																					p.R632R													BICC1,colon,carcinoma,+1,2	BICC1	1	2	0			c.A1896G												178.0	166.0	170.0					10																	60560687		2203	4300	6503	SO:0001819	synonymous_variant	80114	exon14			GCCTCGAAGTCCT	AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.1896A>G	10.37:g.60560687A>G			Somatic	145	0	0		WXS	Illumina HiSeq	.	102	0.32	33	NM_001080512	7	0.86	6		Silent	SNP	ENST00000373886.3	37	CCDS31206.1																																																																																					0.438	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048150.2		NM_025044	
PALD1	27143	broad.mit.edu	37	10	72293719	72293719	+	Silent	SNP	T	T	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr10:72293719T>C	ENST00000263563.6	+	8	1180	c.912T>C	c.(910-912)ccT>ccC	p.P304P		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	304						cytosol (GO:0005829)											CCCACGGGCCTCCCCCAGCCC	0.662																																					p.P304P													.	.			0			c.T912C												37.0	33.0	35.0					10																	72293719		2203	4300	6503	SO:0001819	synonymous_variant	27143	exon8			CGGGCCTCCCCCA	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.912T>C	10.37:g.72293719T>C			Somatic	124	0	0		WXS	Illumina HiSeq	Phase_I	94	0.03	3	NM_014431	16	0.00	0	B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Silent	SNP	ENST00000263563.6	37	CCDS31215.1																																																																																					0.662	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048515.2		NM_014431	
MUC5B	727897	bcgsc.ca	37	11	1266716	1266716	+	Missense_Mutation	SNP	T	T	C	rs200243273	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:1266716T>C	ENST00000529681.1	+	31	8664	c.8606T>C	c.(8605-8607)aTg>aCg	p.M2869T	MUC5B_ENST00000447027.1_Missense_Mutation_p.M2872T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2869	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGGTGACCATGGGCTGTGAG	0.657													-|||	1477	0.294928	0.2284	0.2752	5008	,	,		10473	0.4812		0.2266	False		,,,				2504	0.2771				p.M2869T													.	MUC5B	473		0			c.T8606C												43.0	51.0	49.0					11																	1266716		1683	3765	5448	SO:0001583	missense	727897	exon31			TGACCATGGGCTG	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8606T>C	11.37:g.1266716T>C	ENSP00000436812:p.Met2869Thr		Somatic	157	0.0127388535	2		WXS	Illumina HiSeq	Phase_1	61	0.15	9	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	1.479	-0.557829	0.03967	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15718	2.4;2.59	1.67	-1.74	0.08056	.	.	.	.	.	T	0.05686	0.0149	N	0.02539	-0.55	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29882	-0.9997	8	0.87932	D	0	.	3.4419	0.07466	0.1749:0.468:0.0:0.3571	rs2860626;rs2943499;rs2943524;rs3965637	3452;2872	A7Y9J9;E9PBJ0	.;.	T	2869;2872;2841;2829	ENSP00000436812:M2869T;ENSP00000415793:M2872T	ENSP00000343037:M2841T	M	+	2	0	MUC5B	1223292	0.003000	0.15002	0.000000	0.03702	0.007000	0.05969	0.117000	0.15583	-1.035000	0.03291	-0.471000	0.05019	ATG			0.657	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093	
TNNT3	7140	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	11	1955860	1955860	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:1955860G>T	ENST00000397301.1	+	14	606	c.598G>T	c.(598-600)Gat>Tat	p.D200Y	TNNT3_ENST00000397304.2_Missense_Mutation_p.D170Y|TNNT3_ENST00000278317.6_Missense_Mutation_p.D189Y|TNNT3_ENST00000381549.3_Missense_Mutation_p.D181Y|TNNT3_ENST00000381589.3_Missense_Mutation_p.D187Y|TNNT3_ENST00000381561.4_Missense_Mutation_p.D192Y|TNNT3_ENST00000381579.3_Missense_Mutation_p.D181Y|TNNT3_ENST00000381558.1_Missense_Mutation_p.D181Y|TNNT3_ENST00000446240.1_Missense_Mutation_p.D170Y|TNNT3_ENST00000360603.3_Missense_Mutation_p.D183Y|TNNT3_ENST00000381548.3_Missense_Mutation_p.D191Y|TNNT3_ENST00000493234.1_3'UTR			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	200					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCTCAACATCGATCACCTTGG	0.612																																					p.D189Y													.	.			0			c.G565T												30.0	29.0	29.0					11																	1955860		2200	4298	6498	SO:0001583	missense	7140	exon13			AACATCGATCACC	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.598G>T	11.37:g.1955860G>T	ENSP00000380468:p.Asp200Tyr		Somatic	80	0	0		WXS	Illumina HiSeq	.	105	0.05	5	NM_006757	9	0.00	0	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37		.	.	.	.	.	.	.	.	.	.	.	16.08	3.021277	0.54576	.	.	ENSG00000130595	ENST00000278317;ENST00000544980;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.93247	-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19;-3.19	3.86	3.86	0.44501	.	0.167813	0.53938	D	0.000055	D	0.97182	0.9079	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D	0.67145	0.995;0.995;0.995;0.995;0.996	D;D;D;D;D	0.74674	0.973;0.973;0.973;0.973;0.984	D	0.98302	1.0519	10	0.87932	D	0	-4.9075	16.3717	0.83364	0.0:0.0:1.0:0.0	.	189;181;187;181;200	P45378-2;P45378-7;P45378-6;P45378-4;P45378	.;.;.;.;TNNT3_HUMAN	Y	189;85;201;192;191;183;181;187;181;175;170;192;176;181;200;170;170	ENSP00000278317:D189Y;ENSP00000370973:D192Y;ENSP00000370960:D191Y;ENSP00000353815:D183Y;ENSP00000370961:D181Y;ENSP00000371001:D187Y;ENSP00000370991:D181Y;ENSP00000370969:D175Y;ENSP00000415614:D170Y;ENSP00000370975:D192Y;ENSP00000344870:D176Y;ENSP00000370970:D181Y;ENSP00000380468:D200Y;ENSP00000380471:D170Y;ENSP00000413203:D170Y	ENSP00000278317:D189Y	D	+	1	0	TNNT3	1912436	1.000000	0.71417	0.982000	0.44146	0.197000	0.23852	8.886000	0.92447	2.171000	0.68590	0.313000	0.20887	GAT			0.612	TNNT3-010	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000142920.3		NM_006757	
ABCC8	6833	mdanderson.org	37	11	17482169	17482169	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:17482169G>T	ENST00000389817.3	-	6	945	c.877C>A	c.(877-879)Cat>Aat	p.H293N	ABCC8_ENST00000302539.4_Missense_Mutation_p.H293N			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	293					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CCGAAGGCATGGCTGAGTGCC	0.632																																					p.H293N													.	.			0			c.C877A												65.0	65.0	65.0					11																	17482169		2200	4293	6493	SO:0001583	missense	6833	exon6			AGGCATGGCTGAG	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.877C>A	11.37:g.17482169G>T	ENSP00000374467:p.His293Asn		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_000352	0		0	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069502	0.20147	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.94376	-3.41;-3.41	5.53	3.66	0.41972	ABC transporter, transmembrane domain, type 1 (1);	0.588486	0.18863	N	0.129067	D	0.86912	0.6047	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.74674	-0.3586	10	0.33141	T	0.24	.	4.9952	0.14235	0.2262:0.0:0.6156:0.1582	.	292;293	B7Z4N0;Q09428	.;ABCC8_HUMAN	N	293;293;307	ENSP00000374467:H293N;ENSP00000303960:H293N	ENSP00000303960:H293N	H	-	1	0	ABCC8	17438745	0.979000	0.34478	0.775000	0.31657	0.544000	0.35116	1.669000	0.37492	1.351000	0.45789	0.561000	0.74099	CAT			0.632	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000389093.1		NM_000352	
VPS37C	55048	mdanderson.org	37	11	60901649	60901649	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:60901649C>T	ENST00000301765.5	-	3	356	c.124G>A	c.(124-126)Gca>Aca	p.A42T		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	42					endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GTGGCCAGTGCCATCTCCCGT	0.587																																					p.A42T													.	.			0			c.G124A												65.0	64.0	64.0					11																	60901649		2203	4299	6502	SO:0001583	missense	55048	exon3			CCAGTGCCATCTC	AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.124G>A	11.37:g.60901649C>T	ENSP00000301765:p.Ala42Thr		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_017966	54	0.00	0	Q8N3K4	Missense_Mutation	SNP	ENST00000301765.5	37	CCDS31573.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162193	0.38217	.	.	ENSG00000167987	ENST00000301765;ENST00000540084;ENST00000538036	T;T	0.76578	-1.03;-1.03	5.3	5.3	0.74995	Modifier of rudimentary, Modr (1);	0.000000	0.85682	D	0.000000	T	0.79381	0.4436	N	0.25380	0.74	0.53005	D	0.999963	D;P	0.89917	1.0;0.896	D;P	0.91635	0.999;0.753	T	0.72584	-0.4249	10	0.07325	T	0.83	-13.6084	17.1334	0.86732	0.0:1.0:0.0:0.0	.	42;42	B4DYD9;A5D8V6	.;VP37C_HUMAN	T	42	ENSP00000301765:A42T;ENSP00000446013:A42T	ENSP00000301765:A42T	A	-	1	0	VPS37C	60658225	1.000000	0.71417	0.998000	0.56505	0.643000	0.38383	1.887000	0.39698	2.496000	0.84212	0.491000	0.48974	GCA			0.587	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396467.1		NM_017966	
MARK2	2011	broad.mit.edu;mdanderson.org	37	11	63667568	63667568	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:63667568G>T	ENST00000509502.2	+	8	1118	c.655G>T	c.(655-657)Gga>Tga	p.G219*	MARK2_ENST00000402010.2_Nonsense_Mutation_p.G252*|MARK2_ENST00000425897.2_Nonsense_Mutation_p.G219*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.G219*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.G252*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.G219*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.G252*|MARK2_ENST00000513765.2_Nonsense_Mutation_p.G219*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.G252*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.G252*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.G252*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.G252*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.G252*	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTTTTGATGGACAGAACCT	0.507																																					p.G252X													.	MARK2	91		0			c.G754T												157.0	171.0	166.0					11																	63667568		2201	4297	6498	SO:0001587	stop_gained	2011	exon8			TTTGATGGACAGA	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.655G>T	11.37:g.63667568G>T	ENSP00000423974:p.Gly219*		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	112	0.04	5	NM_001163296	47	0.00	0		Nonsense_Mutation	SNP	ENST00000509502.2	37	CCDS41665.1	.	.	.	.	.	.	.	.	.	.	g	41	8.667776	0.98908	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0815	0.89442	0.0:0.0:1.0:0.0	.	.	.	.	X	252;252;252;252;219;252;252;252;252;219;219;219;219	.	ENSP00000326632:G252X	G	+	1	0	MARK2	63424144	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.654000	0.98509	2.806000	0.96561	0.645000	0.84053	GGA			0.507	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000360862.2		NM_017490	
TM7SF2	7108	broad.mit.edu	37	11	64880133	64880133	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:64880133C>T	ENST00000279263.7	+	2	361	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F	TM7SF2_ENST00000540748.1_5'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000531029.1_3'UTR|TM7SF2_ENST00000345348.5_Missense_Mutation_p.L67F	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	67					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCTGTGGCTCGCCTGGCT	0.776																																					p.L67F													.	TM7SF2	30		0			c.C199T												2.0	2.0	2.0					11																	64880133		1298	2944	4242	SO:0001583	missense	7108	exon2			CTGTGGCTCGCCT	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.199C>T	11.37:g.64880133C>T	ENSP00000279263:p.Leu67Phe		Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_003273	0		0	A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302633	0.40795	.	.	ENSG00000149809	ENST00000526809;ENST00000279263;ENST00000524986;ENST00000534371;ENST00000525385;ENST00000345348;ENST00000531321;ENST00000529414;ENST00000530750	D;D;D;D;D;D;D;D;D	0.99136	-4.93;-4.84;-4.84;-5.47;-4.84;-4.84;-5.47;-4.84;-4.84	4.77	1.86	0.25419	.	227.746000	0.00447	N	0.000080	D	0.97548	0.9197	L	0.45352	1.415	0.32751	N	0.506345	B;B	0.22480	0.07;0.016	B;B	0.26310	0.057;0.068	D	0.92454	0.5972	10	0.45353	T	0.12	1.1333	7.6604	0.28400	0.0:0.7102:0.0:0.2898	.	67;67	O76062-2;O76062	.;ERG24_HUMAN	F	67;67;38;67;38;67;38;67;67	ENSP00000432171:L67F;ENSP00000279263:L67F;ENSP00000435972:L38F;ENSP00000432187:L67F;ENSP00000433325:L38F;ENSP00000329520:L67F;ENSP00000431300:L38F;ENSP00000433275:L67F;ENSP00000432413:L67F	ENSP00000279263:L67F	L	+	1	0	TM7SF2	64636709	0.292000	0.24362	0.304000	0.25085	0.983000	0.72400	0.540000	0.23191	0.226000	0.20979	0.561000	0.74099	CTC			0.776	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385234.1		NM_003273	
PC	5091	mdanderson.org	37	11	66639224	66639224	+	Silent	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:66639224G>T	ENST00000393958.2	-	4	348	c.255C>A	c.(253-255)ctC>ctA	p.L85L	PC_ENST00000393955.2_Silent_p.L85L|PC_ENST00000355677.3_Silent_p.L85L|PC_ENST00000524491.1_Silent_p.L45L|PC_ENST00000393960.1_Silent_p.L85L	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	85	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCGGCCGATGAGATAGGCTT	0.647																																					p.L85L													.	.			0			c.C255A												35.0	37.0	36.0					11																	66639224		2191	4290	6481	SO:0001819	synonymous_variant	5091	exon3			GCCGATGAGATAG	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.255C>A	11.37:g.66639224G>T			Somatic	41	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_022172	10	0.00	0	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																					0.647	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393115.1		NM_001040716	
UNC93B1	81622	broad.mit.edu	37	11	67763107	67763107	+	Silent	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:67763107A>G	ENST00000227471.2	-	10	1414	c.1335T>C	c.(1333-1335)agT>agC	p.S445S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	446					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											TGTTCAGGGCACTGCCCACAC	0.617																																					.													.	.			0			.												10.0	10.0	10.0					11																	67763107		1758	3730	5488	SO:0001819	synonymous_variant	81622	.			CAGGGCACTGCCC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1335T>C	11.37:g.67763107A>G			Somatic	74	0.0135135135	1		WXS	Illumina HiSeq	Phase_I	118	0.07	8	.	65	0.00	0	O95764|Q569H6|Q710D4	Silent	SNP	ENST00000227471.2	37																																																																																						0.617	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_030930	
ACAT1	38	broad.mit.edu	37	11	108018054	108018054	+	Silent	SNP	C	C	T	rs367713788		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:108018054C>T	ENST00000265838.4	+	12	1312	c.1221C>T	c.(1219-1221)taC>taT	p.Y407Y		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	407					adipose tissue development (GO:0060612)|brain development (GO:0007420)|branched-chain amino acid catabolic process (GO:0009083)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular nitrogen compound metabolic process (GO:0034641)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|metanephric proximal convoluted tubule development (GO:0072229)|protein homooligomerization (GO:0051260)|response to hormone (GO:0009725)|response to organic cyclic compound (GO:0014070)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	acetyl-CoA C-acetyltransferase activity (GO:0003985)|coenzyme binding (GO:0050662)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AAGGAGAATACGGTCTTGCCA	0.418																																					p.Y407Y													ACAT1,caecum,carcinoma,+1,1	ACAT1	35	1	0			c.C1221T							C		0,4402		0,0,2201	148.0	129.0	136.0		1221	-5.2	0.6	11		136	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	ACAT1	NM_000019.3		0,1,6498	TT,TC,CC		0.0116,0.0,0.0077		407/428	108018054	1,12997	2201	4298	6499	SO:0001819	synonymous_variant	38	exon12			AGAATACGGTCTT	D90228	CCDS8339.1	11q22.3	2010-04-30	2010-04-30		ENSG00000075239	ENSG00000075239	2.3.1.9		93	protein-coding gene	gene with protein product	"""acetoacetyl Coenzyme A thiolase"""	607809	"""acetyl-Coenzyme A acetyltransferase 1"""	ACAT		1979337	Standard	NM_000019		Approved	THIL	uc001pjy.3	P24752	OTTHUMG00000166381	ENST00000265838.4:c.1221C>T	11.37:g.108018054C>T			Somatic	93	0.0107526882	1		WXS	Illumina HiSeq	Phase_I	111	0.03	3	NM_000019	80	0.00	0	B2R6H1|G3XAB4|Q96FG8	Silent	SNP	ENST00000265838.4	37	CCDS8339.1																																																																																					0.418	ACAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389474.1		NM_000019	
APLP2	334	broad.mit.edu	37	11	129999082	129999082	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr11:129999082T>G	ENST00000263574.5	+	10	1508	c.1436T>G	c.(1435-1437)tTg>tGg	p.L479W	APLP2_ENST00000345598.5_Missense_Mutation_p.L250W|APLP2_ENST00000338167.5_Missense_Mutation_p.L479W|APLP2_ENST00000539648.1_Missense_Mutation_p.L267W|APLP2_ENST00000528499.1_Missense_Mutation_p.L423W|APLP2_ENST00000278756.7_Missense_Mutation_p.L489W|APLP2_ENST00000543137.1_Missense_Mutation_p.L386W	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	479					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CTGGCTGCCTTGCAGTCTGAC	0.592																																					p.L489W													.	APLP2	71		0			c.T1466G												83.0	76.0	78.0					11																	129999082		2201	4297	6498	SO:0001583	missense	334	exon10			CTGCCTTGCAGTC	L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1436T>G	11.37:g.129999082T>G	ENSP00000263574:p.Leu479Trp		Somatic	88	0.0113636364	1		WXS	Illumina HiSeq	Phase_I	66	0.08	5	NM_001243299	508	0.00	0	B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000263574.5	37	CCDS8486.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.465001	0.84425	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.71	5.71	0.89125	Amyloidogenic glycoprotein, E2 domain (2);	0.069808	0.64402	D	0.000015	T	0.79317	0.4425	M	0.86740	2.835	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;1.0;0.998;1.0;0.999;0.998;0.999	T	0.83269	-0.0044	10	0.87932	D	0	-13.9755	15.1717	0.72878	0.0:0.0:0.0:1.0	.	267;479;423;250;417;423;479	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	W	423;267;479;250;479;489;386	ENSP00000435914:L423W;ENSP00000443728:L267W;ENSP00000263574:L479W;ENSP00000263575:L250W;ENSP00000345444:L479W;ENSP00000278756:L489W;ENSP00000444122:L386W	ENSP00000263574:L479W	L	+	2	0	APLP2	129504292	1.000000	0.71417	0.986000	0.45419	0.749000	0.42624	7.698000	0.84413	2.176000	0.68965	0.533000	0.62120	TTG			0.592	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386109.1		NM_001642	
TAS2R43	259289	ucsc.edu;bcgsc.ca	37	12	11244616	11244616	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:11244616C>G	ENST00000531678.1	-	1	296	c.213G>C	c.(211-213)ttG>ttC	p.L71F	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	71					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		AAGCTGGATTCAACACAGTTG	0.408																																					p.L71F													.	TAS2R43	19		0			c.G213C												52.0	45.0	47.0					12																	11244616		1936	3996	5932	SO:0001583	missense	259289	exon1			TGGATTCAACACA	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.213G>C	12.37:g.11244616C>G	ENSP00000431719:p.Leu71Phe		Somatic	121	0.0165289256	2		WXS	Illumina HiSeq		562	0.56	313	NM_176884	0		0	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.849609	0.00563	.	.	ENSG00000255374	ENST00000531678	T	0.00745	5.75	1.97	-3.95	0.04118	.	.	.	.	.	T	0.00524	0.0017	N	0.16602	0.42	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.42982	-0.9419	9	0.18710	T	0.47	.	4.1028	0.10023	0.2506:0.4258:0.3236:0.0	.	71	P59537	T2R43_HUMAN	F	71	ENSP00000431719:L71F	ENSP00000431719:L71F	L	-	3	2	TAS2R43	11135883	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.495000	0.02294	-1.022000	0.03346	-1.296000	0.01341	TTG			0.408	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383561.1		NM_176884	
H1FNT	341567	mdanderson.org	37	12	48723627	48723627	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:48723627A>G	ENST00000335017.1	+	1	865	c.553A>G	c.(553-555)Agg>Ggg	p.R185G		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	185	Arg-rich.				chromosome condensation (GO:0030261)|multicellular organismal development (GO:0007275)|sperm chromatin condensation (GO:0035092)|spermatid nucleus elongation (GO:0007290)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GGCCAATGCCAGGGCGAGGAG	0.706																																					p.R185G													.	.			0			c.A553G												46.0	41.0	43.0					12																	48723627		2184	4295	6479	SO:0001583	missense	341567	exon1			AATGCCAGGGCGA	AY302593	CCDS8762.1	12q13.11	2011-01-27				ENSG00000187166		"""Histones / Replication-independent"""	24893	protein-coding gene	gene with protein product						15710904	Standard	NM_181788		Approved	HANP1, H1T2	uc001rrm.3	Q75WM6		ENST00000335017.1:c.553A>G	12.37:g.48723627A>G	ENSP00000334805:p.Arg185Gly		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_181788	0		0	Q147U8|Q5GKZ5|Q7Z694	Missense_Mutation	SNP	ENST00000335017.1	37	CCDS8762.1	.	.	.	.	.	.	.	.	.	.	A	1.321	-0.599350	0.03744	.	.	ENSG00000187166	ENST00000335017	T	0.19806	2.12	1.5	1.5	0.22942	.	.	.	.	.	T	0.10809	0.0264	N	0.22421	0.69	0.09310	N	1	P	0.48694	0.914	B	0.37601	0.254	T	0.16364	-1.0405	9	0.39692	T	0.17	.	4.9782	0.14151	1.0:0.0:0.0:0.0	.	185	Q75WM6	H1FNT_HUMAN	G	185	ENSP00000334805:R185G	ENSP00000334805:R185G	R	+	1	2	H1FNT	47009894	0.001000	0.12720	0.033000	0.17914	0.096000	0.18686	0.519000	0.22862	0.649000	0.30751	0.383000	0.25322	AGG			0.706	H1FNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406516.1		NM_181788	
FAM186A	121006	broad.mit.edu	37	12	50746972	50746972	+	Silent	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:50746972A>G	ENST00000327337.5	-	4	3642	c.3643T>C	c.(3643-3645)Ttg>Ctg	p.L1215L	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Silent_p.L1215L	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1215																	GGGATCCCCAATTCCTGAGCC	0.647																																					p.L1215L	NSCLC(138;1796 1887 12511 19463 37884)												.	FAM186A	181		0			c.T3643C												13.0	13.0	13.0					12																	50746972		691	1591	2282	SO:0001819	synonymous_variant	121006	exon4			TCCCCAATTCCTG		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.3643T>C	12.37:g.50746972A>G			Somatic	98	0.0102040816	1		WXS	Illumina HiSeq	Phase_I	128	0.05	6	NM_001145475	0		0		Silent	SNP	ENST00000327337.5	37	CCDS44878.1																																																																																					0.647	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396838.1		XM_001718353	
RPH3A	22895	broad.mit.edu	37	12	113319619	113319619	+	Missense_Mutation	SNP	G	G	T	rs368476874	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:113319619G>T	ENST00000389385.4	+	15	1791	c.1294G>T	c.(1294-1296)Gtt>Ttt	p.V432F	RPH3A_ENST00000543106.2_Missense_Mutation_p.V432F|RPH3A_ENST00000551052.1_Missense_Mutation_p.V428F|RPH3A_ENST00000415485.3_Missense_Mutation_p.V432F|RPH3A_ENST00000548866.1_Missense_Mutation_p.V383F|RPH3A_ENST00000447659.2_Missense_Mutation_p.V383F|RPH3A_ENST00000420983.2_Missense_Mutation_p.V432F|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	432	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGATCCCTACGTTAAGCTGCA	0.607																																					p.V432F													.	RPH3A	98		0			c.G1294T												101.0	94.0	96.0					12																	113319619		2203	4300	6503	SO:0001583	missense	22895	exon15			CCCTACGTTAAGC	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1294G>T	12.37:g.113319619G>T	ENSP00000374036:p.Val432Phe		Somatic	96	0.0104166667	1		WXS	Illumina HiSeq	Phase_I	108	0.04	4	NM_001143854	0		0	B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944030	0.92593	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913;ENST00000552755	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.34	5.34	0.76211	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.53938	D	0.000042	T	0.64271	0.2583	H	0.94264	3.515	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.75569	-0.3272	10	0.87932	D	0	.	17.8422	0.88718	0.0:0.0:1.0:0.0	.	383;432;432;428	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	F	432;432;383;428;432;383;432;84;84	ENSP00000440384:V432F;ENSP00000374036:V432F;ENSP00000413254:V383F;ENSP00000448297:V428F;ENSP00000405357:V432F;ENSP00000450347:V383F;ENSP00000408889:V432F	ENSP00000374036:V432F	V	+	1	0	RPH3A	111804002	1.000000	0.71417	0.948000	0.38648	0.972000	0.66771	7.597000	0.82733	2.507000	0.84556	0.561000	0.74099	GTT			0.607	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000405561.1		NM_014954	
NCOR2	9612	ucsc.edu	37	12	124887067	124887067	+	Missense_Mutation	SNP	T	T	G	rs559681337	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:124887067T>G	ENST00000405201.1	-	14	1523	c.1523A>C	c.(1522-1524)cAg>cCg	p.Q508P	NCOR2_ENST00000404621.1_Missense_Mutation_p.Q507P|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q507P|NCOR2_ENST00000356219.3_Missense_Mutation_p.Q508P|NCOR2_ENST00000404121.2_Missense_Mutation_p.Q78P|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q508P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	508	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGgctgctgctgctgctgctg	0.622																																					p.Q508P													.	NCOR2	475		0			c.A1523C												15.0	18.0	17.0					12																	124887067		2075	4203	6278	SO:0001583	missense	9612	exon16			TGCTGCTGCTGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1523A>C	12.37:g.124887067T>G	ENSP00000384018:p.Gln508Pro		Somatic	53	0	0		WXS	Illumina HiSeq		77	0.06	5	NM_006312	49	0.02	1	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	1.083	-0.666393	0.03428	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;1.93;3.41;1.93;0.67	1.39	0.0765	0.14403	.	1.309660	0.05402	N	0.540872	T	0.59702	0.2213	L	0.29908	0.895	0.23126	N	0.998251	P;P;P	0.47106	0.824;0.824;0.89	P;P;P	0.52554	0.507;0.507;0.702	T	0.51655	-0.8678	10	0.72032	D	0.01	-23.6036	5.6093	0.17396	0.0:0.0:0.2803:0.7197	.	507;508;508	C9J0Q5;C9J239;C9JFD3	.;.;.	P	508;507;508;508;508;78;507;508	ENSP00000384018:Q508P;ENSP00000384202:Q507P;ENSP00000348551:Q508P;ENSP00000380513:Q508P;ENSP00000385618:Q78P;ENSP00000400281:Q507P;ENSP00000402808:Q508P	ENSP00000348551:Q508P	Q	-	2	0	NCOR2	123453020	0.951000	0.32395	1.000000	0.80357	0.339000	0.28857	-1.312000	0.02720	0.049000	0.15920	-2.418000	0.00219	CAG			0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312	
NCOR2	9612	broad.mit.edu;mdanderson.org	37	12	124887070	124887070	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:124887070T>G	ENST00000405201.1	-	14	1520	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	NCOR2_ENST00000404621.1_Missense_Mutation_p.Q506P|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q506P|NCOR2_ENST00000356219.3_Missense_Mutation_p.Q507P|NCOR2_ENST00000404121.2_Missense_Mutation_p.Q77P|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q507P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	507	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ctgctgctgctgctgctgctg	0.612																																					p.Q507P													.	NCOR2	475		0			c.A1520C												14.0	17.0	16.0					12																	124887070		2069	4200	6269	SO:0001583	missense	9612	exon16			TGCTGCTGCTGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1520A>C	12.37:g.124887070T>G	ENSP00000384018:p.Gln507Pro		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	78	0.05	4	NM_006312	52	0.00	0	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	2.152	-0.394260	0.04899	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;1.9;3.45;1.9;0.68	1.93	1.93	0.25924	.	2.540960	0.01282	N	0.009774	T	0.62466	0.2430	L	0.29908	0.895	0.28785	N	0.899603	P;P;P	0.47106	0.824;0.824;0.89	P;P;P	0.52554	0.507;0.507;0.702	T	0.53229	-0.8468	10	0.49607	T	0.09	-3.4784	5.9047	0.18986	0.0:0.0:0.0:1.0	.	506;507;507	C9J0Q5;C9J239;C9JFD3	.;.;.	P	507;506;507;507;507;77;506;507	ENSP00000384018:Q507P;ENSP00000384202:Q506P;ENSP00000348551:Q507P;ENSP00000380513:Q507P;ENSP00000385618:Q77P;ENSP00000400281:Q506P;ENSP00000402808:Q507P	ENSP00000348551:Q507P	Q	-	2	0	NCOR2	123453023	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	0.115000	0.15540	0.937000	0.37394	0.055000	0.15244	CAG			0.612	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312	
NCOR2	9612	ucsc.edu	37	12	124887073	124887073	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr12:124887073T>G	ENST00000405201.1	-	14	1517	c.1517A>C	c.(1516-1518)cAg>cCg	p.Q506P	NCOR2_ENST00000404621.1_Missense_Mutation_p.Q505P|NCOR2_ENST00000429285.2_Missense_Mutation_p.Q505P|NCOR2_ENST00000356219.3_Missense_Mutation_p.Q506P|NCOR2_ENST00000404121.2_Missense_Mutation_p.Q76P|NCOR2_ENST00000397355.1_Missense_Mutation_p.Q506P			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	506	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		ctgctgctgctgctgctgctg	0.617																																					p.Q506P													.	NCOR2	475		0			c.A1517C												12.0	15.0	14.0					12																	124887073		2067	4198	6265	SO:0001583	missense	9612	exon16			TGCTGCTGCTGCT	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1517A>C	12.37:g.124887073T>G	ENSP00000384018:p.Gln506Pro		Somatic	50	0.02	1		WXS	Illumina HiSeq		77	0.09	7	NM_006312	49	0.14	7	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	2.036	-0.421156	0.04734	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	1.95	1.95	0.26073	.	1.969200	0.02201	N	0.062307	T	0.29028	0.0721	N	0.11427	0.14	0.33633	D	0.606264	P;P;P	0.47106	0.824;0.824;0.89	P;P;P	0.52554	0.507;0.507;0.702	T	0.36212	-0.9757	10	0.59425	D	0.04	-5.8127	5.9401	0.19187	0.0:0.0:0.0:1.0	.	505;506;506	C9J0Q5;C9J239;C9JFD3	.;.;.	P	506;505;506;506;506;76;505;506	ENSP00000384018:Q506P;ENSP00000384202:Q505P;ENSP00000348551:Q506P;ENSP00000380513:Q506P;ENSP00000385618:Q76P;ENSP00000400281:Q505P;ENSP00000402808:Q506P	ENSP00000348551:Q506P	Q	-	2	0	NCOR2	123453026	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	1.016000	0.29976	0.946000	0.37632	0.102000	0.15555	CAG			0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318173.2		NM_006312	
LATS2	26524	broad.mit.edu	37	13	21562482	21562483	+	In_Frame_Ins	INS	-	-	GGGGCG	rs56252009|rs550642106	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr13:21562482_21562483insGGGGCG	ENST00000382592.4	-	4	1841_1842	c.1436_1437insCGCCCC	c.(1435-1437)ccg>ccCGCCCCg	p.479_479P>PAP	LATS2_ENST00000542899.1_In_Frame_Ins_p.479_479P>PAP|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.P473_A480delPAPAPAPA(2)|p.P479_A480insGR(1)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CCTCCGCAgccggggcgggggc	0.787														1274	0.254393	0.1566	0.3429	5008	,	,		6446	0.2133		0.338	False		,,,				2504	0.2802				p.P479delinsPAP													.	LATS2	176		3	Deletion - In frame(2)|Insertion - In frame(1)	breast(2)|pancreas(1)	c.1437_1438insCGCCCC									22,194		10,2,96						-10.2	0.0		dbSNP_119	2	119,543		56,7,268	no	coding	LATS2	NM_014572.2		66,9,364	A1A1,A1R,RR		17.9758,10.1852,16.0592				141,737				SO:0001652	inframe_insertion	26524	exon4			CGCAGCCGGGGCG	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1431_1436dupCGCCCC	13.37:g.21562483_21562488dupGGGGCG	ENSP00000372035:p.AlaPro479dup		Somatic	3	0	0		WXS	Illumina HiSeq	Phase_I	8	0.38	3	NM_014572	1	0.00	0		In_Frame_Ins	INS	ENST00000382592.4	37	CCDS9294.1																																																																																					0.787	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044102.1			
ACIN1	22985	hgsc.bcm.edu;mdanderson.org	37	14	23549896	23549896	+	Silent	SNP	C	C	T	rs398102304		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr14:23549896C>T	ENST00000262710.1	-	6	1149	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ACIN1_ENST00000457657.1_Silent_p.E234E|ACIN1_ENST00000605057.1_Silent_p.E216E|ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Silent_p.E274E	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	274	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		cctcctcctcctcttcttcct	0.473																																					p.E274E													.	.			0			c.G822A												126.0	121.0	123.0					14																	23549896		2203	4300	6503	SO:0001819	synonymous_variant	22985	exon6			CTCCTCCTCTTCT	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.822G>A	14.37:g.23549896C>T			Somatic	103	0	0		WXS	Illumina HiSeq	.	105	0.05	5	NM_001164814	34	0.00	0	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	ENST00000262710.1	37	CCDS9587.1																																																																																					0.473	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000071707.3		NM_014977	
MYH7	4625	hgsc.bcm.edu;broad.mit.edu	37	14	23885334	23885334	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr14:23885334G>A	ENST00000355349.3	-	34	4994	c.4832C>T	c.(4831-4833)gCc>gTc	p.A1611V	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1611					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.A1611V(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACCCTCAGGGCCTCGTTGCG	0.617																																					p.A1611V													MYH7,NS,carcinoma,0,1	MYH7	0	1	1	Substitution - Missense(1)	endometrium(1)	c.C4832T												178.0	140.0	153.0					14																	23885334		2203	4300	6503	SO:0001583	missense	4625	exon34			CTCAGGGCCTCGT	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4832C>T	14.37:g.23885334G>A	ENSP00000347507:p.Ala1611Val		Somatic	123	0.0081300813	1		WXS	Illumina HiSeq	.	119	0.05	6	NM_000257	0		0	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644954	0.67358	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78364	-1.17	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	T	0.81866	0.4913	M	0.85041	2.73	0.80722	D	1	B	0.10296	0.003	B	0.23574	0.047	T	0.81521	-0.0895	9	0.62326	D	0.03	.	17.8682	0.88803	0.0:0.0:1.0:0.0	.	1611	P12883	MYH7_HUMAN	V	1611;1616	ENSP00000347507:A1611V	ENSP00000347507:A1611V	A	-	2	0	MYH7	22955174	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.141000	0.77330	2.537000	0.85549	0.655000	0.94253	GCC			0.617	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000071798.3		NM_000257	
DHRS4L1	728635	broad.mit.edu;mdanderson.org	37	14	24507059	24507059	+	RNA	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr14:24507059A>G	ENST00000558293.1	+	0	176					NR_102693.1																						CTGCAGGGGGAGGGGCTGAGC	0.662																																					p.E79G													.	.			0			c.A236G												33.0	34.0	34.0					14																	24507059		2203	4300	6503			728635	exon2			AGGGGGAGGGGCT																													14.37:g.24507059A>G			Somatic	135	0.0074074074	1		WXS	Illumina HiSeq	Phase_I	143	0.03	5	NM_001082488	1	0.00	0		RNA	SNP	ENST00000558293.1	37		.	.	.	.	.	.	.	.	.	.	-	11.70	1.716952	0.30413	.	.	ENSG00000225766	ENST00000397065	.	.	.	3.32	3.32	0.38043	NAD(P)-binding domain (1);	.	.	.	.	T	0.62270	0.2414	L	0.56280	1.765	.	.	.	D	0.58268	0.982	D	0.64877	0.93	T	0.69379	-0.5161	7	0.39692	T	0.17	.	10.004	0.41946	1.0:0.0:0.0:0.0	.	79	P0CG22	DR4L1_HUMAN	G	79	.	ENSP00000380255:E79G	E	+	2	0	AL136295.1	23576899	1.000000	0.71417	0.967000	0.41034	0.337000	0.28794	5.777000	0.68931	1.519000	0.48950	0.329000	0.21502	GAG			0.662	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000417272.1			
UNC79	57578	broad.mit.edu	37	14	94060039	94060039	+	Missense_Mutation	SNP	G	G	A	rs370246949		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr14:94060039G>A	ENST00000393151.2	+	23	3046	c.3046G>A	c.(3046-3048)Gtc>Atc	p.V1016I	UNC79_ENST00000555664.1_Missense_Mutation_p.V1016I|UNC79_ENST00000256339.4_Missense_Mutation_p.V839I|UNC79_ENST00000553484.1_Missense_Mutation_p.V1016I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1016					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGGAGGGTCGTCAAATCCGA	0.468																																					p.V839I													.	UNC79	366		0			c.G2515A							G	ILE/VAL	0,4406		0,0,2203	236.0	204.0	215.0		2515	1.0	1.0	14		215	1,8599	1.2+/-3.3	0,1,4299	no	missense	UNC79	NM_020818.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	839/2459	94060039	1,13005	2203	4300	6503	SO:0001583	missense	57578	exon23			AGGGTCGTCAAAT	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3046G>A	14.37:g.94060039G>A	ENSP00000376858:p.Val1016Ile		Somatic	194	0.0103092784	2		WXS	Illumina HiSeq	Phase_I	223	0.02	4	NM_020818	0		0	B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37		.	.	.	.	.	.	.	.	.	.	G	10.61	1.399661	0.25291	0.0	1.16E-4	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.17691	2.28;2.28;2.26;2.28	5.53	1.01	0.19927	.	0.376195	0.25086	N	0.033248	T	0.06554	0.0168	N	0.08118	0	0.22552	N	0.998997	B	0.10296	0.003	B	0.09377	0.004	T	0.41288	-0.9517	10	0.12103	T	0.63	-7.6859	7.3012	0.26422	0.2606:0.2158:0.5235:0.0	.	1016	C9JQL1	.	I	839;1016;1016;1016;1016	ENSP00000256339:V839I;ENSP00000450868:V1016I;ENSP00000451360:V1016I;ENSP00000376858:V1016I	ENSP00000256339:V839I	V	+	1	0	KIAA1409	93129792	0.296000	0.24398	0.991000	0.47740	0.913000	0.54294	0.773000	0.26661	0.289000	0.22422	0.557000	0.71058	GTC			0.468	UNC79-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000412766.1		XM_028395	
TUBGCP4	27229	hgsc.bcm.edu	37	15	43677978	43677978	+	Intron	SNP	T	T	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr15:43677978T>A	ENST00000260383.7	+	8	977				TUBGCP4_ENST00000399460.3_Intron|TUBGCP4_ENST00000564079.1_Intron			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGTACTCTTTCCTTGACTAG	0.443																																					.													.	.			0			.												103.0	91.0	95.0					15																	43677978		1918	4151	6069	SO:0001627	intron_variant	100873756	.			ACTCTTTCCTTGA	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.724-11T>A	15.37:g.43677978T>A			Somatic	100	0	0		WXS	Illumina HiSeq	.	140	0.21	29	.	0		0	B3KNK6|Q969X3|Q9NVF0	RNA	SNP	ENST00000260383.7	37																																																																																						0.443	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000432970.1		NM_014444	
TUBGCP4	27229	mdanderson.org	37	15	43678501	43678501	+	Silent	SNP	G	G	T	rs372242208		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr15:43678501G>T	ENST00000260383.7	+	9	1241	c.987G>T	c.(985-987)gtG>gtT	p.V329V	TUBGCP4_ENST00000399460.3_Silent_p.V193V|TUBGCP4_ENST00000564079.1_Silent_p.V329V			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	329					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AACAGGTGGTGGATCGCATTC	0.368																																					p.V329V													.	.			0			c.G987T												97.0	88.0	91.0					15																	43678501		1935	4137	6072	SO:0001819	synonymous_variant	27229	exon9			GGTGGTGGATCGC	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.987G>T	15.37:g.43678501G>T			Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	107	0.04	4	NM_014444	24	0.00	0	B3KNK6|Q969X3|Q9NVF0	Silent	SNP	ENST00000260383.7	37																																																																																						0.368	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000432970.1		NM_014444	
DET1	55070	broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	89056263	89056263	+	Silent	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr15:89056263A>G	ENST00000268148.8	-	5	1717	c.1572T>C	c.(1570-1572)ccT>ccC	p.P524P	RP11-97O12.7_ENST00000606219.1_RNA|DET1_ENST00000564406.1_Silent_p.P535P|DET1_ENST00000444300.1_Silent_p.P535P	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	524						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AAGGCTCAAAAGGGTGAAAGG	0.552																																					p.P535P													.	DET1	55		0			c.T1605C												89.0	87.0	88.0					15																	89056263		2014	4177	6191	SO:0001819	synonymous_variant	55070	exon6			CTCAAAAGGGTGA	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.1572T>C	15.37:g.89056263A>G			Somatic	151	0.0066225166	1		WXS	Illumina HiSeq	Phase_I	175	0.03	6	NM_017996	22	0.00	0	B3KNN6|Q2VPC0|Q9NWD5	Silent	SNP	ENST00000268148.8	37	CCDS45344.1																																																																																					0.552	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415442.2		NM_017996	
SLCO3A1	28232	mdanderson.org	37	15	92459545	92459545	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr15:92459545G>T	ENST00000318445.6	+	2	717	c.503G>T	c.(502-504)cGc>cTc	p.R168L	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R168L	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	168				R -> L (in Ref. 7; AAH00585). {ECO:0000305}.	sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	CTCATCTGCCGCAACCGGACG	0.701																																					p.R168L													SLCO3A1,NS,malignant_melanoma,0,1	SLCO3A1	0	1	0			c.G503T												18.0	16.0	17.0					15																	92459545		2190	4289	6479	SO:0001583	missense	28232	exon2			TCTGCCGCAACCG	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.503G>T	15.37:g.92459545G>T	ENSP00000320634:p.Arg168Leu		Somatic	50	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_013272	6	0.00	0	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701060	0.48307	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000553304	T;T;T	0.39229	1.09;1.09;1.09	5.34	5.34	0.76211	Major facilitator superfamily domain, general substrate transporter (1);	0.639808	0.16773	N	0.200114	T	0.28466	0.0704	N	0.10972	0.075	0.80722	D	1	B;B;P	0.39940	0.312;0.369;0.696	B;B;B	0.37780	0.041;0.066;0.258	T	0.13388	-1.0511	10	0.32370	T	0.25	.	18.0315	0.89286	0.0:0.0:1.0:0.0	.	110;168;168	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	L	168;168;110	ENSP00000320634:R168L;ENSP00000387846:R168L;ENSP00000450559:R110L	ENSP00000320634:R168L	R	+	2	0	SLCO3A1	90260549	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.999000	0.63934	2.510000	0.84645	0.655000	0.94253	CGC			0.701	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313529.1		NM_013272	
CAPN15	6650	mdanderson.org	37	16	597600	597600	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:597600G>T	ENST00000219611.2	+	4	1125	c.762G>T	c.(760-762)caG>caT	p.Q254H	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	254					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTCCCCCCCAGCTGCAGCCAC	0.746																																					p.Q254H													.	.			0			c.G762T												7.0	11.0	10.0					16																	597600		1867	3890	5757	SO:0001583	missense	6650	exon4			CCCCCAGCTGCAG	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.762G>T	16.37:g.597600G>T	ENSP00000219611:p.Gln254His		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_005632	28	0.00	0	B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	11.69	1.712525	0.30322	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.89196	-2.48	5.0	4.04	0.47022	.	2.246270	0.01715	N	0.027966	D	0.87688	0.6240	L	0.32530	0.975	0.26149	N	0.980178	D	0.56521	0.976	P	0.47744	0.556	T	0.75243	-0.3386	10	0.38643	T	0.18	.	9.3053	0.37872	0.1009:0.0:0.8991:0.0	.	254	O75808	CAN15_HUMAN	H	254	ENSP00000219611:Q254H	ENSP00000219611:Q254H	Q	+	3	2	SOLH	537601	1.000000	0.71417	0.998000	0.56505	0.287000	0.27160	2.305000	0.43664	1.111000	0.41721	0.556000	0.70494	CAG			0.746	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239271.1		NM_005632	
CCDC154	645811	mdanderson.org	37	16	1488104	1488104	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:1488104C>T	ENST00000389176.3	-	10	1292	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	CCDC154_ENST00000409671.1_Missense_Mutation_p.A222T	NM_001143980.1	NP_001137452.1	A6NI56	CC154_HUMAN	coiled-coil domain containing 154	376						endosome (GO:0005768)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)	5						GCCAGCTGTGCGGCCTCCAGG	0.672																																					p.A367T													.	.			0			c.G1099A												29.0	33.0	32.0					16																	1488104		692	1590	2282	SO:0001583	missense	645811	exon10			GCTGTGCGGCCTC			16p13.3	2012-12-13			ENSG00000197599	ENSG00000197599			34454	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 29"""	C16orf29			Standard	NM_001143980		Approved	LOC645811	uc010uve.2	A6NI56	OTTHUMG00000154097	ENST00000389176.3:c.1126G>A	16.37:g.1488104C>T	ENSP00000373828:p.Ala376Thr		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_001143980	1	0.00	0	G9JV18	Missense_Mutation	SNP	ENST00000389176.3	37		.	.	.	.	.	.	.	.	.	.	C	2.127	-0.399997	0.04865	.	.	ENSG00000197599	ENST00000409671;ENST00000389176	.	.	.	3.05	-2.07	0.07276	.	0.641028	0.12769	N	0.440722	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.29427	-1.0012	9	0.17832	T	0.49	-8.0315	8.3188	0.32117	0.0:0.6684:0.0:0.3316	.	376	A6NI56	CC154_HUMAN	T	222;376	.	ENSP00000373828:A376T	A	-	1	0	CCDC154	1428105	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	-1.229000	0.02945	-0.398000	0.07679	-0.254000	0.11334	GCA			0.672	CCDC154-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				NM_001143980	
SRRM2	23524	mdanderson.org	37	16	2817298	2817298	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:2817298G>T	ENST00000301740.8	+	11	7318	c.6769G>T	c.(6769-6771)Gct>Tct	p.A2257S	AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2257	Ala-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTGAACCTGGCTGACTCTCG	0.632																																					p.A2257S													.	.			0			c.G6769T												67.0	70.0	69.0					16																	2817298		2198	4300	6498	SO:0001583	missense	23524	exon11			AACCTGGCTGACT	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.6769G>T	16.37:g.2817298G>T	ENSP00000301740:p.Ala2257Ser		Somatic	49	0.0612244898	3		WXS	Illumina HiSeq	Phase_I	64	0.14	9	NM_016333	428	0.03	14	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125326	0.20959	.	.	ENSG00000167978	ENST00000301740;ENST00000544933	T	0.80033	-1.33	5.82	4.84	0.62591	.	0.089887	0.48767	D	0.000165	T	0.71151	0.3306	L	0.34521	1.04	0.30120	N	0.805738	P	0.40970	0.734	B	0.37731	0.257	T	0.71069	-0.4699	10	0.44086	T	0.13	-6.9946	12.7961	0.57560	0.0:0.1642:0.8358:0.0	.	2257	Q9UQ35	SRRM2_HUMAN	S	2257;1509	ENSP00000301740:A2257S	ENSP00000301740:A2257S	A	+	1	0	SRRM2	2757299	1.000000	0.71417	0.976000	0.42696	0.402000	0.30811	1.924000	0.40065	1.423000	0.47198	0.655000	0.94253	GCT			0.632	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000436411.1			
CMTM2	146225	broad.mit.edu	37	16	66621965	66621965	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:66621965A>C	ENST00000268595.2	+	4	841	c.690A>C	c.(688-690)gaA>gaC	p.E230D	CMTM2_ENST00000379486.2_Missense_Mutation_p.E177D	NM_144673.2	NP_653274.1	Q8TAZ6	CKLF2_HUMAN	CKLF-like MARVEL transmembrane domain containing 2	230					chemotaxis (GO:0006935)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.E230E(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		AGGGACCAGAACCCGCCAAGC	0.532																																					p.E230D													CMTM2,trunk,malignant_melanoma,+2,2	CMTM2	33	2	1	Substitution - coding silent(1)	skin(1)	c.A690C												59.0	63.0	62.0					16																	66621965		2201	4300	6501	SO:0001583	missense	146225	exon4			ACCAGAACCCGCC	BC025354	CCDS10814.1, CCDS56001.1	16q22.1-q22.3	2008-02-05	2005-11-08	2005-11-08	ENSG00000140932	ENSG00000140932			19173	protein-coding gene	gene with protein product		607885	"""chemokine-like factor super family 2"", ""chemokine-like factor superfamily 2"""	CKLFSF2			Standard	NM_001199317		Approved	MGC39436, FLJ25732	uc002ept.3	Q8TAZ6	OTTHUMG00000137501	ENST00000268595.2:c.690A>C	16.37:g.66621965A>C	ENSP00000268595:p.Glu230Asp		Somatic	64	0.203125	13		WXS	Illumina HiSeq	Phase_I	91	0.19	17	NM_144673	2	0.00	0	Q5I2A4|Q8N7E5	Missense_Mutation	SNP	ENST00000268595.2	37	CCDS10814.1	.	.	.	.	.	.	.	.	.	.	A	6.993	0.553395	0.13374	.	.	ENSG00000140932	ENST00000379486;ENST00000268595	T;T	0.55588	0.51;1.08	3.13	-6.26	0.02033	.	1.598980	0.03989	N	0.294567	T	0.33556	0.0867	L	0.36672	1.1	0.09310	N	1	B;B	0.14438	0.01;0.01	B;B	0.11329	0.006;0.006	T	0.12993	-1.0526	10	0.18710	T	0.47	-5.6888	1.832	0.03132	0.3986:0.3098:0.1712:0.1203	.	177;230	Q5I2A4;Q8TAZ6	.;CKLF2_HUMAN	D	177;230	ENSP00000368800:E177D;ENSP00000268595:E230D	ENSP00000268595:E230D	E	+	3	2	CMTM2	65179466	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.306000	0.02735	-2.061000	0.00892	-0.442000	0.05670	GAA			0.532	CMTM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000268808.1			
THAP11	57215	broad.mit.edu	37	16	67876781	67876781	+	Silent	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr16:67876781G>A	ENST00000303596.1	+	1	569	c.324G>A	c.(322-324)caG>caA	p.Q108Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	108	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.682																																					p.Q108Q													.	THAP11	27		0			c.G324A												13.0	17.0	15.0					16																	67876781		2002	3990	5992	SO:0001819	synonymous_variant	57215	exon1			GCAACAGCAGCAG	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.324G>A	16.37:g.67876781G>A			Somatic	41	0.0243902439	1		WXS	Illumina HiSeq	Phase_I	67	0.04	3	NM_020457	60	0.00	0	A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	CCDS10847.1																																																																																					0.682	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268879.1		NM_020457	
ARRB2	409	broad.mit.edu	37	17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:4619841A>C	ENST00000269260.2	+	5	528	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P|ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	99					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682																																					p.T99P													.	ARRB2	30		0			c.A295C																																									SO:0001583	missense	409	exon5			CCCCCCACCCGCC		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.295A>C	17.37:g.4619841A>C	ENSP00000269260:p.Thr99Pro		Somatic	27	0.0740740741	2		WXS	Illumina HiSeq	Phase_I	48	0.17	8	NM_001257329	30	0.00	0	B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340849	0.81911	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.23147	1.92;1.92	4.84	4.84	0.62591	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.051921	0.85682	D	0.000000	T	0.60612	0.2282	H	0.94222	3.51	0.80722	D	1	D;D;D;B;D	0.76494	0.999;0.974;0.99;0.26;0.963	D;P;D;B;P	0.77004	0.989;0.816;0.912;0.089;0.884	T	0.71951	-0.4437	10	0.87932	D	0	-9.8224	12.4157	0.55492	1.0:0.0:0.0:0.0	.	99;84;99;84;99	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	P	99;99;84;100	ENSP00000269260:T99P;ENSP00000341895:T84P	ENSP00000269260:T99P	T	+	1	0	ARRB2	4566590	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.916000	0.75776	2.050000	0.60909	0.460000	0.39030	ACC			0.682	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000439552.1		NM_004313	
PITPNM3	83394	mdanderson.org	37	17	6381975	6381975	+	Silent	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:6381975G>T	ENST00000262483.8	-	7	756	c.669C>A	c.(667-669)gcC>gcA	p.A223A	PITPNM3_ENST00000421306.3_Silent_p.A187A	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	223					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GGGAGGAGATGGCCAACAGGG	0.627																																					p.A223A													.	.			0			c.C669A												61.0	50.0	54.0					17																	6381975		2203	4300	6503	SO:0001819	synonymous_variant	83394	exon7			GGAGATGGCCAAC	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.669C>A	17.37:g.6381975G>T			Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_031220	3	0.00	0	A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	CCDS11076.1																																																																																					0.627	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000219824.2		NM_031220	
CCDC144CP	348254	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	17	18528523	18528523	+	IGR	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:18528523C>T								CCDC144B (18819 upstream) : TBC1D28 (9795 downstream)																							TCGCCAAGATCTTCCAGGCGG	0.632																																					.													.	.			0			.												43.0	52.0	49.0					17																	18528523		2203	4294	6497	SO:0001628	intergenic_variant	284047	.			CAAGATCTTCCAG																													17.37:g.18528523C>T			Somatic	169	0	0		WXS	Illumina HiSeq	.	231	0.29	67	.	2	0.00	0		RNA	SNP		37																																																																																					0	0.632										
NF1	4763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	29527570	29527570	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:29527570C>G	ENST00000358273.4	+	9	1402	c.1019C>G	c.(1018-1020)tCt>tGt	p.S340C	NF1_ENST00000356175.3_Missense_Mutation_p.S340C|NF1_ENST00000431387.4_Missense_Mutation_p.S340C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGATAACTCTGTCATTTTC	0.378			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																											p.S340C			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	.	.			14	Whole gene deletion(8)|Unknown(6)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|lung(1)	c.C1019G	GRCh37	CD972347	NF1	D								119.0	106.0	110.0					17																	29527570		2203	4300	6503	SO:0001583	missense	4763	exon9	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	ATAACTCTGTCAT		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1019C>G	17.37:g.29527570C>G	ENSP00000351015:p.Ser340Cys		Somatic	59	0	0		WXS	Illumina HiSeq	.	78	0.27	21	NM_001128147	3	0.67	2	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310687	0.81358	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	T;T;T;T	0.67171	2.73;-0.25;-0.25;2.88	5.39	5.39	0.77823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81093	0.4751	M	0.68952	2.095	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	P;D;D;D;D	0.79784	0.864;0.992;0.922;0.993;0.993	T	0.80781	-0.1229	10	0.48119	T	0.1	.	19.1503	0.93485	0.0:1.0:0.0:0.0	.	340;340;340;340;340	E1P657;P21359-2;P21359;Q14931;P21359-3	.;.;NF1_HUMAN;.;.	C	340;340;340;6	ENSP00000412921:S340C;ENSP00000351015:S340C;ENSP00000348498:S340C;ENSP00000389907:S6C	ENSP00000348498:S340C	S	+	2	0	NF1	26551696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.182000	0.77689	2.542000	0.85734	0.591000	0.81541	TCT			0.378	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256351.2		NM_000267	
ITGB3	3690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	45376796	45376796	+	Missense_Mutation	SNP	G	G	A	rs144884023		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:45376796G>A	ENST00000559488.1	+	11	1829	c.1813G>A	c.(1813-1815)Ggc>Agc	p.G605S	ITGB3_ENST00000560629.1_Missense_Mutation_p.R593Q|ITGB3_ENST00000435993.2_Missense_Mutation_p.G558S	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	605	Cysteine-rich tandem repeats.		G -> S (in GT; type II). {ECO:0000269|PubMed:9790984}.		activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CAGCGGCCGCGGCAAGTGTGA	0.597																																					p.G605S													.	.			0			c.G1813A	GRCh37	CM981082	ITGB3	M	rs144884023		G	SER/GLY	0,4406		0,0,2203	78.0	75.0	76.0		1813	5.8	1.0	17	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGB3	NM_000212.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	605/789	45376796	1,13005	2203	4300	6503	SO:0001583	missense	3690	exon11			GGCCGCGGCAAGT		CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.1813G>A	17.37:g.45376796G>A	ENSP00000452786:p.Gly605Ser		Somatic	105	0	0		WXS	Illumina HiSeq	.	143	0.26	37	NM_000212	1	0.00	0	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Missense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	.	.	.	.	.	.	.	.	.	.	G	35	5.595261	0.96602	0.0	1.16E-4	ENSG00000178852	ENST00000262017;ENST00000435993	D	0.97089	-4.24	5.84	5.84	0.93424	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.98607	0.9534	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99445	1.0939	10	0.87932	D	0	.	18.9005	0.92440	0.0:0.0:1.0:0.0	.	605	P05106	ITB3_HUMAN	S	605;558	ENSP00000407801:G558S	ENSP00000262017:G605S	G	+	1	0	C17orf57	42731795	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	9.822000	0.99363	2.770000	0.95276	0.555000	0.69702	GGC	0		0.597	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000416111.3		NM_000212	
SLC16A6	9120	broad.mit.edu	37	17	66270087	66270087	+	Silent	SNP	G	G	T	rs201209320	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:66270087G>T	ENST00000327268.4	-	4	521	c.357C>A	c.(355-357)gtC>gtA	p.V119V	SLC16A6_ENST00000580666.1_Silent_p.V119V|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	119					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TGCCGATGGCGACGTACATAT	0.502																																					p.V119V													.	SLC16A6	56		0			c.C357A												91.0	80.0	84.0					17																	66270087		2203	4300	6503	SO:0001819	synonymous_variant	9120	exon4			GATGGCGACGTAC	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.357C>A	17.37:g.66270087G>T			Somatic	101	0	0		WXS	Illumina HiSeq	Phase_I	120	0.03	4	NM_001174166	2	0.00	0	Q6P1X3	Silent	SNP	ENST00000327268.4	37	CCDS11675.1																																																																																					0.502	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448323.1		NM_004694	
KIAA0195	9772	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	73484174	73484174	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr17:73484174A>T	ENST00000314256.7	+	6	965	c.571A>T	c.(571-573)Agg>Tgg	p.R191W	KIAA0195_ENST00000375248.5_Missense_Mutation_p.R201W|KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	191						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATAGCTTTGAGGCCTGGCCA	0.557																																					p.R191W													.	.			0			c.A571T												129.0	103.0	112.0					17																	73484174		2203	4300	6503	SO:0001583	missense	9772	exon6			GCTTTGAGGCCTG		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.571A>T	17.37:g.73484174A>T	ENSP00000313885:p.Arg191Trp		Somatic	104	0	0		WXS	Illumina HiSeq	.	147	0.28	41	NM_014738	27	0.26	7	O75536|Q86XF1	Missense_Mutation	SNP	ENST00000314256.7	37	CCDS32732.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.552674	0.86127	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.52983	0.64;0.64	5.43	3.0	0.34707	.	0.059746	0.64402	D	0.000001	T	0.62245	0.2412	M	0.70595	2.14	0.54753	D	0.999988	D;D	0.67145	0.996;0.993	P;P	0.61874	0.895;0.628	T	0.66056	-0.6018	10	0.87932	D	0	-26.8654	11.7052	0.51593	0.5736:0.4264:0.0:0.0	.	201;191	C9JL75;Q12767	.;K0195_HUMAN	W	191;201	ENSP00000313885:R191W;ENSP00000364397:R201W	ENSP00000313885:R191W	R	+	1	2	KIAA0195	70995769	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.488000	0.45276	0.858000	0.35431	0.459000	0.35465	AGG			0.557	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447303.1		NM_014738	
ZBTB7C	201501	mdanderson.org	37	18	45555801	45555801	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr18:45555801G>T	ENST00000588982.1	-	4	2191	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.L564M|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.L564M|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.L564M|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.L564M			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	564							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TCAGCCTCCAGCTGCGCGCGC	0.716																																					p.L564M													.	.			0			c.C1690A												9.0	10.0	9.0					18																	45555801		2176	4252	6428	SO:0001583	missense	201501	exon3			CCTCCAGCTGCGC	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1690C>A	18.37:g.45555801G>T	ENSP00000468782:p.Leu564Met		Somatic	20	0	0		WXS	Illumina HiSeq	Phase_I	20	0.15	3	NM_001039360	0		0	O73453	Missense_Mutation	SNP	ENST00000588982.1	37	CCDS32830.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971367	0.53614	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.12361	2.69;2.69	4.51	3.61	0.41365	.	0.367893	0.19621	N	0.109912	T	0.08358	0.0208	N	0.19112	0.55	0.32567	N	0.530288	B;B	0.21905	0.062;0.062	B;B	0.16289	0.015;0.015	T	0.07809	-1.0753	10	0.48119	T	0.1	.	6.8888	0.24218	0.0825:0.0:0.6061:0.3114	.	564;564	B2RG49;A1YPR0	.;ZBT7C_HUMAN	M	564	ENSP00000439781:L564M;ENSP00000328732:L564M	ENSP00000328732:L564M	L	-	1	2	ZBTB7C	43809799	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.325000	0.33724	0.843000	0.35070	0.555000	0.69702	CTG			0.716	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450731.1		NM_001039360	
CSNK1G2	1455	broad.mit.edu	37	19	1969878	1969878	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:1969878G>T	ENST00000255641.8	+	2	602	c.107G>T	c.(106-108)aGc>aTc	p.S36I		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	36					protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|peptide binding (GO:0042277)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGGGACCAGCTCGGGGGTC	0.677																																					p.S36I	Ovarian(91;880 1392 21236 36928 37598)												.	CSNK1G2	28		0			c.G107T												23.0	26.0	25.0					19																	1969878		2199	4297	6496	SO:0001583	missense	1455	exon2			GGACCAGCTCGGG	AF001177	CCDS12077.1	19p13.3	2013-01-17			ENSG00000133275	ENSG00000133275			2455	protein-coding gene	gene with protein product		602214				9403068	Standard	NM_001319		Approved	CK1g2	uc002lul.4	P78368		ENST00000255641.8:c.107G>T	19.37:g.1969878G>T	ENSP00000255641:p.Ser36Ile		Somatic	39	0.0256410256	1		WXS	Illumina HiSeq	Phase_I	34	0.09	3	NM_001319	29	0.00	0	B5BU42|O00704|Q8WUB1	Missense_Mutation	SNP	ENST00000255641.8	37	CCDS12077.1	.	.	.	.	.	.	.	.	.	.	.	15.95	2.984476	0.53934	.	.	ENSG00000133275	ENST00000255641	T	0.59906	0.23	3.99	2.88	0.33553	.	0.065209	0.64402	D	0.000011	T	0.45377	0.1339	L	0.58810	1.83	0.40895	D	0.984108	B	0.32693	0.38	B	0.28139	0.086	T	0.55173	-0.8182	10	0.87932	D	0	.	3.617	0.08081	0.3427:0.0:0.6573:0.0	.	36	P78368	KC1G2_HUMAN	I	36	ENSP00000255641:S36I	ENSP00000255641:S36I	S	+	2	0	CSNK1G2	1920878	1.000000	0.71417	0.992000	0.48379	0.901000	0.52897	6.089000	0.71384	2.068000	0.61886	0.555000	0.69702	AGC			0.677	CSNK1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449287.1		NM_001319	
TMPRSS9	360200	mdanderson.org	37	19	2424093	2424093	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:2424093G>T	ENST00000332578.3	+	14	2453	c.2453G>T	c.(2452-2454)gGc>gTc	p.G818V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	818					plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGACTGTGGCCTGGCGCCG	0.761																																					p.G818V													.	.			0			c.G2453T												3.0	5.0	4.0					19																	2424093		1650	3461	5111	SO:0001583	missense	360200	exon14			ACTGTGGCCTGGC	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.2453G>T	19.37:g.2424093G>T	ENSP00000330264:p.Gly818Val		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	20	0.10	2	NM_182973	0		0	Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	G	17.58	3.425107	0.62733	.	.	ENSG00000178297	ENST00000332578	D	0.95756	-3.8	4.35	4.35	0.52113	Peptidase cysteine/serine, trypsin-like (1);	0.000000	0.64402	D	0.000016	D	0.95847	0.8648	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96542	0.9401	10	0.87932	D	0	.	14.3702	0.66833	0.0:0.0:1.0:0.0	.	818	Q7Z410	TMPS9_HUMAN	V	818	ENSP00000330264:G818V	ENSP00000330264:G818V	G	+	2	0	TMPRSS9	2375093	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	8.097000	0.89539	1.976000	0.57569	0.561000	0.74099	GGC			0.761	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451330.3		NM_182973	
LRP3	4037	mdanderson.org	37	19	33698411	33698411	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:33698411G>T	ENST00000253193.7	+	7	2445	c.2243G>T	c.(2242-2244)tGc>tTc	p.C748F	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	748					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTGGGGGTCTGCAGGAACCCC	0.706																																					p.C748F													.	.			0			c.G2243T												8.0	10.0	10.0					19																	33698411		2159	4237	6396	SO:0001583	missense	4037	exon7			GGGTCTGCAGGAA	AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.2243G>T	19.37:g.33698411G>T	ENSP00000253193:p.Cys748Phe		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	18	0.11	2	NM_002333	55	0.00	0	B3KQD6|B4DKF2	Missense_Mutation	SNP	ENST00000253193.7	37	CCDS12430.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.782224	0.31502	.	.	ENSG00000130881	ENST00000253193	D	0.87729	-2.29	4.41	3.37	0.38596	.	0.285477	0.30455	N	0.009582	T	0.75620	0.3874	N	0.19112	0.55	0.45318	D	0.99831	P;P	0.35982	0.531;0.531	B;B	0.32864	0.154;0.154	T	0.78329	-0.2246	10	0.66056	D	0.02	-29.664	10.0893	0.42436	0.1022:0.0:0.8978:0.0	.	748;666	O75074;B7ZAJ9	LRP3_HUMAN;.	F	748	ENSP00000253193:C748F	ENSP00000253193:C748F	C	+	2	0	LRP3	38390251	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	2.766000	0.47629	2.459000	0.83118	0.491000	0.48974	TGC			0.706	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450842.4			
LINC01531	100128682	broad.mit.edu	37	19	35898758	35898758	+	lincRNA	DEL	C	C	-			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:35898758delC	ENST00000536898.1	+	0	1347					NR_040046.1																						ATGGCGGTCACCACCTTCTGC	0.612																																					.													.	.			0			.																																											0	.			CGGTCACCACCTT																													19.37:g.35898758delC			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000536898.1	37																																																																																						0.612	AC002511.1-002	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000466118.1			
ETV2	2116	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	36134398	36134398	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:36134398G>A	ENST00000403402.1	+	4	764	c.458G>A	c.(457-459)aGc>aAc	p.S153N	ETV2_ENST00000379023.4_Intron|ETV2_ENST00000379026.2_Missense_Mutation_p.S181N|ETV2_ENST00000402764.2_Missense_Mutation_p.S153N|ETV2_ENST00000479824.1_Missense_Mutation_p.S60N			O00321	ETV2_HUMAN	ets variant 2	153					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCAACACCAGCTGGGACTGT	0.756																																					p.S153N													.	.			0			c.G458A												6.0	7.0	7.0					19																	36134398		1939	3770	5709	SO:0001583	missense	2116	exon5			ACACCAGCTGGGA	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.458G>A	19.37:g.36134398G>A	ENSP00000385369:p.Ser153Asn		Somatic	90	0	0		WXS	Illumina HiSeq	.	105	0.08	8	NM_014209	0		0	A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	g	12.84	2.059427	0.36373	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000403402	T;T;T	0.20463	2.07;2.08;2.08	5.08	-0.973	0.10297	.	1.653120	0.02889	N	0.133853	T	0.10508	0.0257	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.18116	-1.0347	10	0.15066	T	0.55	.	2.1007	0.03679	0.2642:0.1349:0.4654:0.1355	.	152;181;153	O00321;A6NFN5;B9EIN1	ETV2_HUMAN;.;.	N	181;153;153	ENSP00000368312:S181N;ENSP00000384524:S153N;ENSP00000385369:S153N	ENSP00000368312:S181N	S	+	2	0	ETV2	40826238	0.339000	0.24784	0.481000	0.27354	0.037000	0.13140	0.361000	0.20267	0.038000	0.15604	-1.337000	0.01257	AGC			0.756	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318848.2		XM_209182	
KMT2B	9757	mdanderson.org	37	19	36213935	36213935	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:36213935C>T	ENST00000222270.7	+	6	2761	c.2761C>T	c.(2761-2763)Cgg>Tgg	p.R921W	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.R921W	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	921					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)										TGTCCCGTCACGGTCCCGGCG	0.642																																					p.R921W													.	.			0			c.C2761T												23.0	29.0	27.0					19																	36213935		2016	4160	6176	SO:0001583	missense	8085	exon6			CCGTCACGGTCCC	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.2761C>T	19.37:g.36213935C>T	ENSP00000222270:p.Arg921Trp		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_014727	36	0.00	0	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008341	0.19199	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84223	-1.82;-1.82	5.82	4.77	0.60923	.	0.212364	0.23692	N	0.045515	T	0.78898	0.4356	L	0.36672	1.1	0.09310	N	1	D	0.61697	0.99	B	0.43623	0.425	T	0.72861	-0.4164	10	0.66056	D	0.02	.	9.6872	0.40105	0.1594:0.6869:0.1537:0.0	.	921	Q9UMN6	MLL4_HUMAN	W	921	ENSP00000222270:R921W;ENSP00000398837:R921W	ENSP00000222270:R921W	R	+	1	2	AD000671.1	40905775	0.000000	0.05858	0.781000	0.31783	0.911000	0.54048	0.517000	0.22832	1.429000	0.47314	0.655000	0.94253	CGG			0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_014727	
RYR1	6261	mdanderson.org	37	19	38956756	38956756	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:38956756C>A	ENST00000359596.3	+	24	2896	c.2896C>A	c.(2896-2898)Ccg>Acg	p.P966T	RYR1_ENST00000355481.4_Missense_Mutation_p.P966T|RYR1_ENST00000360985.3_Missense_Mutation_p.P966T			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	966	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGGGTACAAGCCGGCTCCGCT	0.632																																					p.P966T													.	.			0			c.C2896A												21.0	24.0	23.0					19																	38956756		2199	4297	6496	SO:0001583	missense	6261	exon24			TACAAGCCGGCTC	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2896C>A	19.37:g.38956756C>A	ENSP00000352608:p.Pro966Thr		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_001042723	2	0.00	0	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	c	17.29	3.351284	0.61183	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.98666	-5.06;-5.06;-5.06	3.8	3.8	0.43715	Ryanodine receptor Ryr (1);	0.000000	0.64402	U	0.000002	D	0.99306	0.9757	M	0.93854	3.465	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98648	1.0678	10	0.87932	D	0	.	15.5405	0.76039	0.0:1.0:0.0:0.0	.	966;966	P21817-2;P21817	.;RYR1_HUMAN	T	966	ENSP00000352608:P966T;ENSP00000347667:P966T;ENSP00000354254:P966T	ENSP00000347667:P966T	P	+	1	0	RYR1	43648596	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.412000	0.80091	1.988000	0.58038	0.444000	0.29173	CCG			0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000462137.1			
SUPT5H	6829	mdanderson.org	37	19	39964105	39964105	+	Silent	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:39964105C>T	ENST00000599117.1	+	26	2803	c.2436C>T	c.(2434-2436)agC>agT	p.S812S	SUPT5H_ENST00000432763.2_Silent_p.S812S|SUPT5H_ENST00000402194.2_Silent_p.S808S|SUPT5H_ENST00000359191.6_Silent_p.S808S|SUPT5H_ENST00000598725.1_Silent_p.S812S			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	812	9 X 7 AA approximate tandem repeats of G- S-[QR]-T-P-X-[YQ], motif CTR1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGATGGCAGCCGCACTCCTG	0.632																																					p.S812S													.	.			0			c.C2436T												78.0	76.0	77.0					19																	39964105		2203	4300	6503	SO:0001819	synonymous_variant	6829	exon25			TGGCAGCCGCACT	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2436C>T	19.37:g.39964105C>T			Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_001111020	180	0.00	0	O43279|Q59G52|Q99639	Silent	SNP	ENST00000599117.1	37	CCDS12536.1																																																																																					0.632	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000464918.1		NM_003169	
ZNF285	26974	bcgsc.ca	37	19	44892228	44892228	+	Missense_Mutation	SNP	G	G	C	rs117953191	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:44892228G>C	ENST00000330997.4	-	4	243	c.179C>G	c.(178-180)gCa>gGa	p.A60G	ZNF285_ENST00000544719.2_Missense_Mutation_p.A60G|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.A67G	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	60	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TAACCCCTTTGCCTGAAGATT	0.403																																					p.A60G													.	ZNF285	86		0			c.C179G												79.0	83.0	82.0					19																	44892228		2201	4299	6500	SO:0001583	missense	26974	exon4			CCCTTTGCCTGAA	AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.179C>G	19.37:g.44892228G>C	ENSP00000333595:p.Ala60Gly		Somatic	151	0.0331125828	5		WXS	Illumina HiSeq	Phase_1	197	0.09	18	NM_152354	3	0.00	0	Q17RJ3|Q6B0A8|Q6ISR5	Missense_Mutation	SNP	ENST00000330997.4	37	CCDS12638.1	.	.	.	.	.	.	.	.	.	.	G	6.897	0.535060	0.13188	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	T	0.06294	3.32	1.78	-2.09	0.07232	Krueppel-associated box (2);	.	.	.	.	T	0.02455	0.0075	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42582	-0.9443	9	0.45353	T	0.12	.	3.686	0.08328	0.0:0.1882:0.4872:0.3246	.	84;60	B7ZLR9;Q96NJ3	.;ZN285_HUMAN	G	83;60	ENSP00000333595:A60G	ENSP00000333595:A60G	A	-	2	0	ZNF285	49584068	0.000000	0.05858	0.010000	0.14722	0.284000	0.27059	0.028000	0.13644	-0.674000	0.05253	-0.563000	0.04171	GCA			0.403	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443600.1		NM_152354	
BRSK1	84446	mdanderson.org	37	19	55817676	55817676	+	Missense_Mutation	SNP	G	G	T	rs12973169	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr19:55817676G>T	ENST00000309383.1	+	17	2224	c.1947G>T	c.(1945-1947)aaG>aaT	p.K649N	BRSK1_ENST00000326848.7_Missense_Mutation_p.K344N|BRSK1_ENST00000590333.1_Missense_Mutation_p.K665N	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	649					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCGAGTACAAGGCCAGTGGCG	0.642																																					p.K649N													.	.			0			c.G1947T												61.0	61.0	61.0					19																	55817676		2203	4300	6503	SO:0001583	missense	84446	exon17			GTACAAGGCCAGT	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1947G>T	19.37:g.55817676G>T	ENSP00000310649:p.Lys649Asn		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_I	94	0.04	4	NM_032430	3	0.00	0	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Missense_Mutation	SNP	ENST00000309383.1	37	CCDS12921.1	.	.	.	.	.	.	.	.	.	.	.	17.55	3.417782	0.62622	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.75589	-0.95;1.54	5.11	4.08	0.47627	.	0.000000	0.85682	D	0.000000	D	0.84014	0.5379	M	0.72353	2.195	0.48040	D	0.999575	D;D	0.76494	0.998;0.999	D;D	0.80764	0.987;0.994	D	0.85711	0.1319	10	0.87932	D	0	.	12.6853	0.56944	0.0819:0.0:0.9181:0.0	.	649;665	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	N	649;344;344	ENSP00000310649:K649N;ENSP00000320853:K344N	ENSP00000310649:K649N	K	+	3	2	BRSK1	60509488	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.033000	0.49743	1.316000	0.45131	0.555000	0.69702	AAG			0.642	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000452787.1		NM_032430	
COX7A2L	9167	broad.mit.edu	37	2	42578366	42578366	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr2:42578366delT	ENST00000378669.1	-	4	1167	c.338delA	c.(337-339)aacfs	p.N113fs	COX7A2L_ENST00000234301.2_Frame_Shift_Del_p.N113fs|COX7A2L_ENST00000482463.1_5'UTR			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like	113					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						AACTCATTTGTTTTTGGGCTG	0.448																																					p.N113fs													.	COX7A2L	8		0			c.338delA												63.0	55.0	57.0					2																	42578366		2203	4300	6503	SO:0001589	frameshift_variant	9167	exon3			CATTTGTTTTTGG	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.338delA	2.37:g.42578366delT	ENSP00000367938:p.Asn113fs		Somatic	409	0	0		WXS	Illumina HiSeq	Phase_I	558	0.01	7	NM_004718	315	0.00	0	Q9P118	Frame_Shift_Del	DEL	ENST00000378669.1	37	CCDS1808.1																																																																																					0.448	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250466.3		NM_004718	
EIF5B	9669	broad.mit.edu	37	2	99977964	99977965	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr2:99977964_99977965insA	ENST00000289371.6	+	4	802_803	c.600_601insA	c.(601-603)aaafs	p.K201fs		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	201					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAAGGACAGAAAAAAAATCA	0.356																																					p.Q200fs	Colon(162;2388 2567 2705 3444)												.	EIF5B	95		0			c.600_601insA																																									SO:0001589	frameshift_variant	9669	exon4			AGGACAGAAAAAA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.608dupA	2.37:g.99977972_99977972dupA	ENSP00000289371:p.Lys201fs		Somatic	196	0	0		WXS	Illumina HiSeq	Phase_I	307	0.00	0	NM_015904	108	0.00	0	O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	Frame_Shift_Ins	INS	ENST00000289371.6	37	CCDS42721.1																																																																																					0.356	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330364.2		NM_015904	
JPH2	57158	mdanderson.org	37	20	42788847	42788847	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr20:42788847C>T	ENST00000372980.3	-	2	1452	c.580G>A	c.(580-582)Gcc>Acc	p.A194T		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	194					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCGGGATGGCGGGCGAGGGC	0.786																																					p.A194T													.	.			0			c.G580A												1.0	1.0	1.0					20																	42788847		588	1425	2013	SO:0001583	missense	57158	exon2			GGATGGCGGGCGA	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.580G>A	20.37:g.42788847C>T	ENSP00000362071:p.Ala194Thr		Somatic	9	0	0		WXS	Illumina HiSeq	Phase_I	16	0.13	2	NM_020433	0		0	E1P5X1|O95913|Q5JY74|Q9UJN4	Missense_Mutation	SNP	ENST00000372980.3	37	CCDS13325.1	.	.	.	.	.	.	.	.	.	.	c	12.04	1.819719	0.32145	.	.	ENSG00000149596	ENST00000372980	T	0.60424	0.19	3.34	-1.15	0.09709	.	0.446017	0.23444	N	0.048116	T	0.23171	0.0560	N	0.02916	-0.46	0.80722	D	1	B	0.10296	0.003	B	0.01281	0.0	T	0.02150	-1.1205	10	0.21540	T	0.41	.	3.9729	0.09462	0.0:0.187:0.3529:0.4601	.	194	Q9BR39	JPH2_HUMAN	T	194	ENSP00000362071:A194T	ENSP00000362071:A194T	A	-	1	0	JPH2	42222261	0.992000	0.36948	0.963000	0.40424	0.855000	0.48748	0.777000	0.26718	-0.033000	0.13736	0.306000	0.20318	GCC			0.786	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080307.1			
NEURL2	140825	broad.mit.edu	37	20	44519365	44519365	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr20:44519365T>G	ENST00000372518.4	-	1	561	c.266A>C	c.(265-267)gAc>gCc	p.D89A	RP3-337O18.9_ENST00000607703.1_RNA|CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	89	NHR. {ECO:0000255|PROSITE- ProRule:PRU00400}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACTGGCGGGGTCCAGCGCGGT	0.677																																					.													.	NEURL2	14		0			.												24.0	33.0	30.0					20																	44519365		2201	4295	6496	SO:0001583	missense	140825	.			GCGGGGTCCAGCG	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.266A>C	20.37:g.44519365T>G	ENSP00000361596:p.Asp89Ala		Somatic	81	0.1234567901	10		WXS	Illumina HiSeq	Phase_I	119	0.14	17	.	4	0.25	1	Q3KR34	Missense_Mutation	SNP	ENST00000372518.4	37	CCDS13384.1	.	.	.	.	.	.	.	.	.	.	T	20.4	3.977954	0.74360	.	.	ENSG00000124257	ENST00000372518	T	0.51574	0.7	4.83	4.83	0.62350	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.67953	2.075	0.80722	D	1	P	0.41978	0.767	P	0.47376	0.545	T	0.56080	-0.8038	9	.	.	.	-36.5686	14.5774	0.68258	0.0:0.0:0.0:1.0	.	89	Q9BR09	NEUL2_HUMAN	A	89	ENSP00000361596:D89A	.	D	-	2	0	NEURL2	43952772	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.600000	0.67599	2.034000	0.60081	0.459000	0.35465	GAC			0.677	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079539.2			
ZNF512B	57473	mdanderson.org	37	20	62657364	62657364	+	Intron	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr20:62657364G>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GTACGAGCGGGCCCGGAGGCT	0.662																																					p.A661S													.	.			0			c.G1981T												91.0	93.0	93.0					20																	62657364		2203	4298	6501	SO:0001627	intron_variant	24148	exon15			GAGCGGGCCCGGA	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+22693C>A	20.37:g.62657364G>T			Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_012469	276	0.00	0	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	G	36	5.670380	0.96754	.	.	ENSG00000101161	ENST00000266079	T	0.47177	0.85	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.90369	3.11	0.80722	D	1	D	0.63046	0.992	D	0.65233	0.933	T	0.79713	-0.1688	10	0.87932	D	0	.	20.0467	0.97609	0.0:0.0:1.0:0.0	.	661	O94906	PRP6_HUMAN	S	661	ENSP00000266079:A661S	ENSP00000266079:A661S	A	+	1	0	PRPF6	62127808	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	9.379000	0.97198	2.749000	0.94314	0.655000	0.94253	GCC			0.662	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080246.1		NM_020713	
PRMT2	3275	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	48071767	48071767	+	Intron	SNP	G	G	A	rs577685158		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr21:48071767G>A	ENST00000397637.1	+	6	1608				PRMT2_ENST00000451211.2_Intron|PRMT2_ENST00000291705.6_Intron|PRMT2_ENST00000397638.2_Intron|PRMT2_ENST00000334494.4_Missense_Mutation_p.G235D|PRMT2_ENST00000440086.1_Intron|PRMT2_ENST00000355680.3_Intron|PRMT2_ENST00000458387.2_Intron			P55345	ANM2_HUMAN	protein arginine methyltransferase 2						developmental cell growth (GO:0048588)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|protein methylation (GO:0006479)|regulation of androgen receptor signaling pathway (GO:0060765)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (GO:0042054)|histone-arginine N-methyltransferase activity (GO:0008469)|peroxisome proliferator activated receptor binding (GO:0042975)|progesterone receptor binding (GO:0033142)|protein homodimerization activity (GO:0042803)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|retinoic acid receptor binding (GO:0042974)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TGTGCGTCTGGCCCTCTTCAC	0.617																																					p.G235D													.	.			0			c.G704A												77.0	73.0	74.0					21																	48071767		876	1991	2867	SO:0001627	intron_variant	3275	exon7			CGTCTGGCCCTCT	U80213	CCDS13737.1, CCDS56219.1, CCDS56220.1, CCDS68230.1, CCDS68231.1, CCDS74806.1	21q22.3	2014-06-12	2006-02-16	2006-02-16	ENSG00000160310	ENSG00000160310	2.1.1.125	"""Protein arginine methyltransferases"""	5186	protein-coding gene	gene with protein product		601961	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 1"", ""HMT1 hnRNP methyltransferase-like 1 (S. cerevisiae)"""	HRMT1L1		9545638	Standard	XM_005261111		Approved	MGC111373	uc002zjy.3	P55345	OTTHUMG00000048806	ENST00000397637.1:c.654+2116G>A	21.37:g.48071767G>A			Somatic	143	0	0		WXS	Illumina HiSeq	.	170	0.20	34	NM_001242865	1	0.00	0	B7U630|B7U631|B7U632|P78350|Q498Y5|Q5U7D4|Q6FHF0|Q99781|Q9BW15|Q9UMC2	Missense_Mutation	SNP	ENST00000397637.1	37	CCDS13737.1	.	.	.	.	.	.	.	.	.	.	.	10.57	1.388107	0.25118	.	.	ENSG00000160310	ENST00000334494	T	0.64260	-0.09	0.235	0.235	0.15431	.	.	.	.	.	T	0.51210	0.1661	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.43718	-0.9374	5	0.33940	T	0.23	.	.	.	.	.	.	.	.	D	235	ENSP00000335490:G235D	ENSP00000335490:G235D	G	+	2	0	PRMT2	46896195	0.037000	0.19845	0.022000	0.16811	0.038000	0.13279	-0.129000	0.10515	0.308000	0.22923	0.313000	0.20887	GGC			0.617	PRMT2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207401.1		NM_001535	
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																					.													.	.			0			.																																									SO:0001624	3_prime_UTR_variant	0	.			CTCGGCGCTCGAT																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A			Somatic	159	0.0062893082	1		WXS	Illumina HiSeq	Phase_I	156	0.07	11	.	4	0.00	0		RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding		OTTHUMT00000471615.1			
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	3'UTR	SNP	C	C	T	rs4302302	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617																																					.													.	.			0			.																																									SO:0001624	3_prime_UTR_variant	0	.			CACTGGCGCACGA																												ENST00000412938.1:c.*3476C>T	22.37:g.18846121C>T			Somatic	113	0	0		WXS	Illumina HiSeq	Phase_I	124	0.07	9	.	4	0.00	0		RNA	SNP	ENST00000412938.1	37																																																																																						0.617	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding		OTTHUMT00000471615.1			
EMID1	129080	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	29622540	29622540	+	Splice_Site	SNP	G	G	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr22:29622540G>C	ENST00000404820.3	+	5	592	c.465G>C	c.(463-465)aaG>aaC	p.K155N	EMID1_ENST00000404755.3_Splice_Site_p.K155N|EMID1_ENST00000334018.6_Splice_Site_p.K155N|EMID1_ENST00000484039.1_3'UTR			Q96A84	EMID1_HUMAN	EMI domain containing 1	153						collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TGGAGGCCAAGGTGGGTGAGC	0.652																																					p.K155N													.	.			0			c.G465C												48.0	38.0	41.0					22																	29622540		2203	4300	6503	SO:0001630	splice_region_variant	129080	exon5			GGCCAAGGTGGGT	AJ416090	CCDS33630.1	22q12.2	2009-08-04			ENSG00000186998	ENSG00000186998		"""EMI domain containing"""	18036	protein-coding gene	gene with protein product	"""emilin and multimerin-domain containing protein 1"", ""putative emu1"""	608926				12221002	Standard	NM_001267895		Approved	EMU1, hEmu1, EMI5	uc003aem.4	Q96A84	OTTHUMG00000151013	ENST00000404820.3:c.465+1G>C	22.37:g.29622540G>C			Somatic	54	0	0		WXS	Illumina HiSeq	.	38	0.45	17	NM_133455	4	0.00	0	B0QYK6|Q6ICG1|Q86SS7	Missense_Mutation	SNP	ENST00000404820.3	37		.	.	.	.	.	.	.	.	.	.	G	13.75	2.330994	0.41297	.	.	ENSG00000186998	ENST00000334018;ENST00000429226;ENST00000404755;ENST00000404820;ENST00000430127	D;T;D;D;T	0.91011	-2.77;0.6;-2.6;-2.75;0.5	4.83	3.79	0.43588	.	0.442134	0.19151	N	0.121457	D	0.89174	0.6640	M	0.74647	2.275	0.80722	D	1	B;B;B;B	0.19583	0.022;0.012;0.009;0.037	B;B;B;B	0.16722	0.011;0.006;0.005;0.016	D	0.85685	0.1303	10	0.46703	T	0.11	-9.7556	11.0081	0.47646	0.0:0.1894:0.8106:0.0	.	155;155;153;155	B0QYK4;B0QYK5;Q96A84;Q96A84-3	.;.;EMID1_HUMAN;.	N	155;155;155;155;127	ENSP00000335481:K155N;ENSP00000403816:K155N;ENSP00000385414:K155N;ENSP00000384452:K155N;ENSP00000399760:K127N	ENSP00000335481:K155N	K	+	3	2	EMID1	27952540	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	5.176000	0.65026	0.984000	0.38629	0.555000	0.69702	AAG			0.652	EMID1-002	NOVEL	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000321075.1		NM_133455	Missense_Mutation
MAPK11	5600	mdanderson.org	37	22	50708640	50708640	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr22:50708640G>A	ENST00000330651.6	-	1	182	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	MAPK11_ENST00000495277.1_Intron|MAPK11_ENST00000449719.2_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	28	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	CCCACCGGGCGCAGCCCCTGC	0.761																																					p.R28C	GBM(9;634 739 50668)												.	.			0			c.C82T												4.0	5.0	5.0					22																	50708640		1375	3076	4451	SO:0001583	missense	5600	exon1			CCGGGCGCAGCCC	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.82C>T	22.37:g.50708640G>A	ENSP00000333685:p.Arg28Cys		Somatic	16	0	0		WXS	Illumina HiSeq	Phase_I	20	0.15	3	NM_002751	4	0.00	0	A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Missense_Mutation	SNP	ENST00000330651.6	37	CCDS14090.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425418	0.43020	.	.	ENSG00000185386	ENST00000330651	T	0.15256	2.44	2.37	1.14	0.20703	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.163693	0.35805	U	0.002979	T	0.25005	0.0607	M	0.64404	1.975	0.80722	D	1	B;B	0.33904	0.431;0.431	P;P	0.47376	0.545;0.545	T	0.07616	-1.0763	10	0.59425	D	0.04	.	6.7594	0.23532	0.0:0.0:0.4712:0.5288	.	28;28	A8K730;Q15759	.;MK11_HUMAN	C	28	ENSP00000333685:R28C	ENSP00000333685:R28C	R	-	1	0	MAPK11	49050767	0.646000	0.27295	0.938000	0.37757	0.036000	0.12997	0.036000	0.13819	1.309000	0.44985	0.442000	0.29010	CGC			0.761	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316900.1			
CFAP44	55779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	113098310	113098310	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr3:113098310A>T	ENST00000295868.2	-	17	2303	c.2141T>A	c.(2140-2142)aTg>aAg	p.M714K	WDR52_ENST00000393845.2_Missense_Mutation_p.M714K|WDR52_ENST00000475568.1_5'Flank	NM_018338.3	NP_060808.2														breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATCTTCTCCCATCTCTGCTGC	0.403																																					p.M714K													WDR52,NS,carcinoma,+1,1	WDR52	1	1	0			c.T2141A												130.0	127.0	128.0					3																	113098310		2203	4300	6503	SO:0001583	missense	55779	exon17			TCTCCCATCTCTG																												ENST00000295868.2:c.2141T>A	3.37:g.113098310A>T	ENSP00000295868:p.Met714Lys		Somatic	153	0	0		WXS	Illumina HiSeq	.	174	0.42	73	NM_001164496	0		0		Missense_Mutation	SNP	ENST00000295868.2	37	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.794207	0.00617	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.40225	2.95;1.04	5.42	0.119	0.14685	WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.27098	0.0664	L	0.45581	1.43	0.09310	N	0.999995	B	0.06786	0.001	B	0.06405	0.002	T	0.36359	-0.9751	9	0.02654	T	1	.	6.3789	0.21523	0.2834:0.3589:0.0:0.3577	.	714	Q96MT7	WDR52_HUMAN	K	714	ENSP00000377428:M714K;ENSP00000295868:M714K	ENSP00000295868:M714K	M	-	2	0	WDR52	114581000	0.000000	0.05858	0.118000	0.21660	0.254000	0.26022	-0.088000	0.11198	-0.107000	0.12088	-0.490000	0.04691	ATG			0.403	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000354128.3			
CNBP	7555	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	3	128889947	128889948	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr3:128889947_128889948insT	ENST00000422453.2	-	4	550_551	c.390_391insA	c.(388-393)aaagacfs	p.D131fs	CNBP_ENST00000502976.1_Frame_Shift_Ins_p.D124fs|CNBP_ENST00000504813.1_Frame_Shift_Ins_p.D121fs|CNBP_ENST00000451728.2_Frame_Shift_Ins_p.D132fs|CNBP_ENST00000446936.2_Frame_Shift_Ins_p.D126fs|CNBP_ENST00000500450.2_Frame_Shift_Ins_p.D114fs|CNBP_ENST00000441626.2_Frame_Shift_Ins_p.D133fs	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	131					cholesterol biosynthetic process (GO:0006695)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TTGGTGCAGTCTTTTTGAATGT	0.431																																					p.D133fs													.	CNBP	12		0			c.397_398insA																																									SO:0001589	frameshift_variant	7555	exon4			TGCAGTCTTTTTG	U19765	CCDS3056.1, CCDS46906.1, CCDS46907.1, CCDS46908.1, CCDS54637.1	3q21	2013-01-09	2006-06-29	2006-06-29				"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCHC domain containing"""	13164	protein-coding gene	gene with protein product		116955	"""zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)"", ""zinc finger protein 9"""	DM2, ZNF9		2249857, 11486088	Standard	NM_003418		Approved	RNF163, ZCCHC22, CNBP1	uc021xdw.1	P62633		ENST00000422453.2:c.391dupA	3.37:g.128889952_128889952dupT	ENSP00000410619:p.Asp131fs		Somatic	43	0	0		WXS	Illumina HiSeq	.	51	0.39	20	NM_001127192	807	0.00	0	A8K7V4|B2RAV9|B4DP17|D3DNB9|D3DNC0|D3DNC1|E9PDR7|P20694|Q4JGY0|Q4JGY1|Q5QJR0|Q5U0E9|Q6PJI7|Q96NV3	Frame_Shift_Ins	INS	ENST00000422453.2	37	CCDS3056.1																																																																																					0.431	CNBP-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000358419.1		NM_003418	
ACAD11	84129	hgsc.bcm.edu	37	3	132321819	132321819	+	Intron	SNP	G	G	T	rs111404721	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr3:132321819G>T	ENST00000264990.6	-	13	2593				ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron	NM_032169.4	NP_115545	Q709F0	ACD11_HUMAN	acyl-CoA dehydrogenase family, member 11						fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)	mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|peroxisome (GO:0005777)	flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|very-long-chain-acyl-CoA dehydrogenase activity (GO:0017099)			breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						gctaatttttgtatttttagt	0.537													G|||	15	0.00299521	0.0	0.0014	5008	,	,		17447	0.0		0.0139	False		,,,				2504	0.0				.													.	.			0			.																																									SO:0001627	intron_variant	0	.			ATTTTTGTATTTT	BC019607	CCDS3074.1	3q22.1	2010-04-30	2010-04-30		ENSG00000240303	ENSG00000240303			30211	protein-coding gene	gene with protein product		614288	"""acyl-Coenzyme A dehydrogenase family, member 11"""				Standard	NM_032169		Approved	FLJ12592		Q709F0	OTTHUMG00000159780	ENST00000264990.6:c.1621+253C>A	3.37:g.132321819G>T			Somatic	6	0	0		WXS	Illumina HiSeq	.	7	0.86	6	.	0		0	Q08AF0|Q658N9|Q658Y2|Q6ZND2|Q8WUT6|Q9H9R3	RNA	SNP	ENST00000264990.6	37	CCDS3074.1																																																																																			0.005		0.537	ACAD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357279.2		NM_032169	
STX18	53407	mdanderson.org	37	4	4421779	4421779	+	Silent	SNP	G	G	T	rs527318916		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr4:4421779G>T	ENST00000306200.2	-	11	1053	c.990C>A	c.(988-990)ctC>ctA	p.L330L	STX18_ENST00000505286.1_Intron	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	330					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CGTACCAGTCGAGGAAGAGCA	0.592																																					p.L330L													.	.			0			c.C990A												65.0	54.0	58.0					4																	4421779		2203	4300	6503	SO:0001819	synonymous_variant	53407	exon11			CCAGTCGAGGAAG	AB028741	CCDS3377.1	4p16.3-p16.2	2013-09-23			ENSG00000168818	ENSG00000168818			15942	protein-coding gene	gene with protein product		606046				10788491	Standard	NM_016930		Approved	Ufe1	uc003gic.3	Q9P2W9	OTTHUMG00000090331	ENST00000306200.2:c.990C>A	4.37:g.4421779G>T			Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_016930	84	0.00	0	Q596L3|Q5TZP5	Silent	SNP	ENST00000306200.2	37	CCDS3377.1																																																																																					0.592	STX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206696.1			
TBC1D9	23158	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	141545359	141545359	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr4:141545359A>T	ENST00000442267.2	-	20	3063	c.2989T>A	c.(2989-2991)Tcc>Acc	p.S997T		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	997							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTTTCTTGGGAATTTGCTCTC	0.348																																					p.S997T													.	.			0			c.T2989A												134.0	117.0	122.0					4																	141545359		1823	4083	5906	SO:0001583	missense	23158	exon20			CTTGGGAATTTGC	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2989T>A	4.37:g.141545359A>T	ENSP00000411197:p.Ser997Thr		Somatic	168	0	0		WXS	Illumina HiSeq	.	166	0.05	8	NM_015130	9	0.00	0	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	ENST00000442267.2	37	CCDS47136.1	.	.	.	.	.	.	.	.	.	.	A	8.816	0.936307	0.18206	.	.	ENSG00000109436	ENST00000442267	T	0.08634	3.07	5.84	4.64	0.57946	.	0.175459	0.49916	D	0.000139	T	0.05364	0.0142	N	0.21194	0.64	0.45502	D	0.998464	B	0.02656	0.0	B	0.09377	0.004	T	0.35574	-0.9783	10	0.13108	T	0.6	-5.2606	8.3434	0.32258	0.7303:0.1381:0.0:0.1317	.	997	Q6ZT07	TBCD9_HUMAN	T	997	ENSP00000411197:S997T	ENSP00000411197:S997T	S	-	1	0	TBC1D9	141764809	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	4.168000	0.58216	1.012000	0.39366	0.528000	0.53228	TCC			0.348	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364806.1		NM_015130	
ARL15	54622	mdanderson.org	37	5	53182448	53182448	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr5:53182448G>T	ENST00000504924.1	-	5	651	c.558C>A	c.(556-558)agC>agA	p.S186R	ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000502271.1_Missense_Mutation_p.S7R	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	186					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				GCTGAGAGAAGCTGTCTTTCA	0.403																																					p.S186R													.	.			0			c.C558A												56.0	51.0	52.0					5																	53182448		1866	4119	5985	SO:0001583	missense	54622	exon5			AGAGAAGCTGTCT	BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.558C>A	5.37:g.53182448G>T	ENSP00000433427:p.Ser186Arg		Somatic	83	0	0		WXS	Illumina HiSeq	Phase_I	98	0.05	5	NM_019087	9	0.00	0	Q6IAD0	Missense_Mutation	SNP	ENST00000504924.1	37	CCDS54850.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012979	0.93346	.	.	ENSG00000185305	ENST00000504924	T	0.69806	-0.43	5.89	5.89	0.94794	.	.	.	.	.	T	0.79203	0.4406	M	0.78456	2.415	0.80722	D	1	P	0.48998	0.918	P	0.52386	0.697	T	0.80888	-0.1181	9	0.87932	D	0	.	20.2561	0.98419	0.0:0.0:1.0:0.0	.	186	Q9NXU5	ARL15_HUMAN	R	186	ENSP00000433427:S186R	ENSP00000433427:S186R	S	-	3	2	ARL15	53218205	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.085000	0.64468	2.797000	0.96272	0.563000	0.77884	AGC			0.403	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368432.2		NM_019087	
PCDHA1	56147	mdanderson.org	37	5	140167609	140167609	+	Silent	SNP	T	T	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr5:140167609T>C	ENST00000504120.2	+	1	1734	c.1734T>C	c.(1732-1734)agT>agC	p.S578S	PCDHA1_ENST00000378133.3_Silent_p.S578S|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	578					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCAGTCAGTGAGCTGGTGC	0.652																																					p.S578S													.	.			0			c.T1734C												100.0	93.0	95.0					5																	140167609		2203	4299	6502	SO:0001819	synonymous_variant	56147	exon1			AGTCAGTGAGCTG	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1734T>C	5.37:g.140167609T>C			Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_018900	1	0.00	0	O75288|Q9NRT7	Silent	SNP	ENST00000504120.2	37	CCDS54913.1																																																																																					0.652	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389127.1		NM_018900	
LOC728554	728554	broad.mit.edu	37	5	177303216	177303218	+	RNA	DEL	GTG	GTG	-	rs201610552	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	GTG	GTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr5:177303216_177303218delGTG	ENST00000506672.1	+	0	339					NR_003615.2																						GCTAGGGGCTgtggtggtggtgg	0.586														4276	0.853834	0.6747	0.8818	5008	,	,		10835	0.9643		0.9165	False		,,,				2504	0.8978				.													.	.			0			.																																											0	.			GGGGCTGTGGTGG																													5.37:g.177303225_177303227delGTG			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000506672.1	37																																																																																						0.586	RP11-423H2.1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000373226.1			
ADAMTS2	9509	mdanderson.org	37	5	178567021	178567021	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr5:178567021G>T	ENST00000251582.7	-	11	1746	c.1645C>A	c.(1645-1647)Cac>Aac	p.H549N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	549	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGATGCAGTGTCCTTTAAAA	0.607																																					p.H549N													.	.			0			c.C1645A												147.0	155.0	152.0					5																	178567021		2203	4300	6503	SO:0001583	missense	9509	exon11			TGCAGTGTCCTTT	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1645C>A	5.37:g.178567021G>T	ENSP00000251582:p.His549Asn		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_014244	5	0.00	0		Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730063	0.69074	.	.	ENSG00000087116	ENST00000251582	T	0.59364	0.27	4.92	4.92	0.64577	.	0.000000	0.56097	D	0.000027	T	0.70666	0.3250	L	0.48642	1.525	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.73588	-0.3935	10	0.66056	D	0.02	.	17.1242	0.86710	0.0:0.0:1.0:0.0	.	549	O95450	ATS2_HUMAN	N	549	ENSP00000251582:H549N	ENSP00000251582:H549N	H	-	1	0	ADAMTS2	178499627	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.372000	0.79612	2.281000	0.76405	0.561000	0.74099	CAC			0.607	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253507.1		NM_014244	
E2F3	1871	mdanderson.org	37	6	20402610	20402610	+	Silent	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:20402610C>T	ENST00000346618.3	+	1	213	c.147C>T	c.(145-147)gcC>gcT	p.A49A	E2F3_ENST00000535432.1_5'Flank	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	49	Poly-Ala.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccgccgctgccgccg	0.741																																					p.A49A													.	.			0			c.C147T												14.0	21.0	18.0					6																	20402610		2127	4171	6298	SO:0001819	synonymous_variant	1871	exon1			CGCCGCCGCTGCC	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.147C>T	6.37:g.20402610C>T			Somatic	30	0.0333333333	1		WXS	Illumina HiSeq	Phase_I	27	0.07	2	NM_001949	0		0	Q15000|Q68DT0|Q9BZ44	Silent	SNP	ENST00000346618.3	37	CCDS4545.1																																																																																					0.741	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000043828.1			
POM121L2	94026	broad.mit.edu	37	6	27278969	27278969	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:27278969G>T	ENST00000444565.1	-	1	980	c.981C>A	c.(979-981)agC>agA	p.S327R	POM121L2_ENST00000377451.2_Missense_Mutation_p.S327R	NM_033482.3	NP_258443.2	Q96KW2	P12L2_HUMAN	POM121 transmembrane nucleoporin-like 2	327										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	7						GGTTCTCAGGGCTAGACGGCA	0.517																																					p.S327R													.	POM121L2	61		0			c.C981A												105.0	92.0	96.0					6																	27278969		692	1591	2283	SO:0001583	missense	94026	exon1			CTCAGGGCTAGAC	AL021808	CCDS59497.1	6p21.3	2012-03-13	2012-03-13		ENSG00000158553	ENSG00000158553			13973	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 2 (rat)"", ""POM121 membrane glycoprotein-like 2"""				Standard	NM_033482		Approved	POM121-L	uc011dku.1	Q96KW2	OTTHUMG00000014475	ENST00000444565.1:c.981C>A	6.37:g.27278969G>T	ENSP00000392726:p.Ser327Arg		Somatic	96	0	0		WXS	Illumina HiSeq	Phase_I	109	0.04	4	NM_033482	1	0.00	0	C9J1I7	Missense_Mutation	SNP	ENST00000444565.1	37	CCDS59497.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.659728	0.00772	.	.	ENSG00000158553	ENST00000429945;ENST00000377451;ENST00000444565	T;T;T	0.10288	2.89;2.89;2.89	3.64	0.595	0.17490	.	0.527849	0.16000	N	0.234366	T	0.01061	0.0035	N	0.10837	0.055	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.46938	-0.9155	10	0.06365	T	0.9	.	5.9911	0.19465	0.1098:0.363:0.5272:0.0	.	327	C9J1I7	.	R	41;327;327	ENSP00000415181:S41R;ENSP00000366671:S327R;ENSP00000392726:S327R	ENSP00000366671:S327R	S	-	3	2	POM121L2	27386948	0.000000	0.05858	0.035000	0.18076	0.044000	0.14063	-0.318000	0.08050	0.091000	0.17302	0.561000	0.74099	AGC			0.517	POM121L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040143.2		NM_033482	
TMEM63B	55362	broad.mit.edu;mdanderson.org	37	6	44107208	44107208	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:44107208G>T	ENST00000259746.9	+	7	595	c.412G>T	c.(412-414)Gat>Tat	p.D138Y	TMEM63B_ENST00000527188.1_3'UTR|TMEM63B_ENST00000323267.6_Missense_Mutation_p.D138Y			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	138					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CTGCAGGGATGATGAGATCCG	0.602																																					p.D138Y													.	TMEM63B	77		0			c.G412T												110.0	97.0	101.0					6																	44107208		2203	4300	6503	SO:0001583	missense	55362	exon7			AGGGATGATGAGA	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.412G>T	6.37:g.44107208G>T	ENSP00000259746:p.Asp138Tyr		Somatic	116	0	0		WXS	Illumina HiSeq	Phase_I	129	0.04	5	NM_018426	35	0.00	0	B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Missense_Mutation	SNP	ENST00000259746.9	37	CCDS34461.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.96|12.96	2.093151|2.093151	0.36952|0.36952	.|.	.|.	ENSG00000137216|ENSG00000137216	ENST00000259746;ENST00000532634;ENST00000323267|ENST00000371893	T;T;T|.	0.47869|.	0.83;0.83;0.83|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.159178|.	0.53938|.	D|.	0.000056|.	T|T	0.61185|0.61185	0.2327|0.2327	L|L	0.55213|0.55213	1.73|1.73	0.47476|0.47476	D|D	0.99943|0.99943	P;P;P|.	0.44877|.	0.481;0.845;0.755|.	P;P;P|.	0.52514|.	0.473;0.701;0.465|.	T|T	0.60182|0.60182	-0.7313|-0.7313	10|5	0.72032|.	D|.	0.01|.	.|.	16.4147|16.4147	0.83730|0.83730	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138;138;138|.	Q5T3F8-3;Q5T3F8;Q5T3F8-2|.	.;TM63B_HUMAN;.|.	Y|I	138|66	ENSP00000259746:D138Y;ENSP00000437163:D138Y;ENSP00000327154:D138Y|.	ENSP00000259746:D138Y|.	D|M	+|+	1|3	0|0	TMEM63B|TMEM63B	44215186|44215186	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.213000|0.213000	0.24496|0.24496	9.583000|9.583000	0.98217|0.98217	2.356000|2.356000	0.79943|0.79943	0.561000|0.561000	0.74099|0.74099	GAT|ATG			0.602	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040712.2		XM_166410	
DST	667	broad.mit.edu	37	6	56707935	56707935	+	Silent	SNP	A	A	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:56707935A>C	ENST00000361203.3	-	1	16	c.9T>G	c.(7-9)ggT>ggG	p.G3G	DST_ENST00000312431.6_Silent_p.G3G|DST_ENST00000421834.2_Silent_p.G3G|DST_ENST00000370788.2_Silent_p.G3G|RP11-472M19.2_ENST00000426453.1_RNA|DST_ENST00000370769.4_Silent_p.G3G|DST_ENST00000370754.5_Intron			Q03001	DYST_HUMAN	dystonin	3					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGGAGAGGTAACCCGCCATGC	0.562																																					.													.	.			0			.												51.0	64.0	60.0					6																	56707935		2023	4180	6203	SO:0001819	synonymous_variant	667	.			GAGGTAACCCGCC	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.9T>G	6.37:g.56707935A>C			Somatic	105	0.0952380952	10		WXS	Illumina HiSeq	Phase_I	119	0.15	18	.	1	0.00	0	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37																																																																																						0.562	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000041021.3		NM_001723	
MAP3K7	6885	mdanderson.org	37	6	91278326	91278326	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:91278326C>T	ENST00000369329.3	-	3	409	c.248G>A	c.(247-249)cGt>cAt	p.R83H	MAP3K7_ENST00000369332.3_Missense_Mutation_p.R83H|MAP3K7_ENST00000369327.3_Missense_Mutation_p.R83H|MAP3K7_ENST00000369325.3_Missense_Mutation_p.R83H	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	83	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGGTTCACACGGGATAACTG	0.348																																					p.R83H													MAP3K7_ENST00000369329,caecum,carcinoma,-1,5	MAP3K7_ENST00000369329	-1	5	0			c.G248A												89.0	84.0	86.0					6																	91278326		2203	4300	6503	SO:0001583	missense	6885	exon3			TTCACACGGGATA	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.248G>A	6.37:g.91278326C>T	ENSP00000358335:p.Arg83His		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	64	0.06	4	NM_145333	30	0.00	0	B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337617	0.95758	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88347	0.6412	L	0.52011	1.625	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.76575	0.97;0.955;0.988;0.965	D	0.87653	0.2529	10	0.66056	D	0.02	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	83;83;83;83	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	H	83	ENSP00000358338:R83H;ENSP00000358335:R83H;ENSP00000358331:R83H;ENSP00000358333:R83H	ENSP00000358331:R83H	R	-	2	0	MAP3K7	91335047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.624000	0.83124	2.894000	0.99253	0.655000	0.94253	CGT			0.348	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041530.1		NM_145331	
NCOA7	135112	broad.mit.edu	37	6	126210954	126210954	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:126210954A>G	ENST00000368357.3	+	10	2106	c.1754A>G	c.(1753-1755)aAg>aGg	p.K585R	NCOA7_ENST00000229634.9_Missense_Mutation_p.K470R|NCOA7_ENST00000392477.2_Missense_Mutation_p.K585R	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	585					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TGGGTGAAAAAGGGAGAGCCC	0.473																																					p.K585R													.	NCOA7	92		0			c.A1754G												53.0	58.0	56.0					6																	126210954		2203	4300	6503	SO:0001583	missense	135112	exon10			TGAAAAAGGGAGA	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1754A>G	6.37:g.126210954A>G	ENSP00000357341:p.Lys585Arg		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	108	0.04	4	NM_001199619	6	0.00	0	B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	A	0.134	-1.110388	0.01813	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.84	3.68	0.42216	.	0.718750	0.13361	N	0.393673	T	0.03871	0.0109	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.44019	-0.9355	10	0.15066	T	0.55	-4.6629	8.3873	0.32508	0.8166:0.0:0.1834:0.0	.	574;574;585	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	R	585;585;470;383	ENSP00000357341:K585R;ENSP00000376269:K585R;ENSP00000229634:K470R;ENSP00000389186:K383R	ENSP00000229634:K470R	K	+	2	0	NCOA7	126252647	0.144000	0.22641	0.145000	0.22337	0.069000	0.16628	0.925000	0.28791	0.965000	0.38133	0.533000	0.62120	AAG			0.473	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000042083.4		XM_059748	
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																					p.K141R													REPS1,right_lower_lobe,carcinoma,0,1	REPS1	58	1	0			c.A422G												196.0	180.0	186.0					6																	139266690		2203	4300	6503	SO:0001583	missense	85021	exon3			GATCCCTTTTTCA		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	204	0.02	5	NM_001128617	58	0.00	0	B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG			0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000042447.3			
SYNJ2	8871	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	158449830	158449830	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:158449830C>T	ENST00000355585.4	+	3	332	c.257C>T	c.(256-258)aCa>aTa	p.T86I	SYNJ2_ENST00000367122.2_Missense_Mutation_p.T86I|SYNJ2_ENST00000449859.2_Missense_Mutation_p.T35I|SYNJ2_ENST00000367121.3_Missense_Mutation_p.T86I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	86					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACAGGCTGCACATCTGTGGGC	0.552																																					p.T86I													.	.			0			c.C257T												78.0	82.0	80.0					6																	158449830		2203	4300	6503	SO:0001583	missense	8871	exon3			GCTGCACATCTGT	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.257C>T	6.37:g.158449830C>T	ENSP00000347792:p.Thr86Ile		Somatic	115	0	0		WXS	Illumina HiSeq	.	119	0.11	13	NM_003898	8	0.13	1	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	CCDS5254.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.15|13.15	2.150110|2.150110	0.37923|0.37923	.|.	.|.	ENSG00000078269|ENSG00000078269	ENST00000367113|ENST00000367122;ENST00000367121;ENST00000355585;ENST00000449320;ENST00000449859	.|T;T;T;T;T	.|0.58210	.|0.35;0.35;0.35;0.35;0.35	4.77|4.77	2.94|2.94	0.34122|0.34122	.|Synaptojanin, N-terminal (1);	.|0.353943	.|0.24012	.|N	.|0.042367	T|T	0.30166|0.30166	0.0756|0.0756	L|L	0.39633|0.39633	1.23|1.23	0.23620|0.23620	N|N	0.997275|0.997275	.|B;B;P;P	.|0.38223	.|0.437;0.009;0.623;0.57	.|B;B;P;B	.|0.46026	.|0.342;0.044;0.501;0.261	T|T	0.49707|0.49707	-0.8911|-0.8911	5|10	.|0.40728	.|T	.|0.16	.|.	11.5775|11.5775	0.50873|0.50873	0.0:0.8511:0.0:0.1489|0.0:0.8511:0.0:0.1489	.|.	.|35;86;86;86	.|B4DJU8;E7ER60;O15056;O15056-3	.|.;.;SYNJ2_HUMAN;.	Y|I	61|86;86;86;35;35	.|ENSP00000356089:T86I;ENSP00000356088:T86I;ENSP00000347792:T86I;ENSP00000411202:T35I;ENSP00000388371:T35I	.|ENSP00000347792:T86I	H|T	+|+	1|2	0|0	SYNJ2|SYNJ2	158369818|158369818	0.934000|0.934000	0.31675|0.31675	0.044000|0.044000	0.18714|0.18714	0.994000|0.994000	0.84299|0.84299	1.796000|1.796000	0.38794|0.38794	-1.897000|-1.897000	0.01101|0.01101	-0.290000|-0.290000	0.09829|0.09829	CAT|ACA			0.552	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042858.2			
TCP1	6950	broad.mit.edu	37	6	160210470	160210470	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr6:160210470G>T	ENST00000321394.7	-	1	311	c.31C>A	c.(31-33)Cgc>Agc	p.R11S	TCP1_ENST00000546023.1_5'UTR|TCP1_ENST00000420894.2_Missense_Mutation_p.R11S|MRPL18_ENST00000367034.4_5'Flank|TCP1_ENST00000392168.2_5'UTR|TCP1_ENST00000544255.1_5'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	11					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCAGTGCTGCGGTCACCGAAC	0.677																																					p.R11S													.	TCP1	37		0			c.C31A												50.0	46.0	48.0					6																	160210470		2203	4300	6503	SO:0001583	missense	6950	exon1			TGCTGCGGTCACC	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.31C>A	6.37:g.160210470G>T	ENSP00000317334:p.Arg11Ser		Somatic	263	0	0		WXS	Illumina HiSeq	Phase_I	305	0.02	6	NM_030752	504	0.00	0	E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	31	5.104252	0.94245	.	.	ENSG00000120438	ENST00000321394;ENST00000420894;ENST00000539756	T;D;T	0.90261	2.73;-2.64;1.74	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.93615	0.7961	M	0.83774	2.66	0.80722	D	1	P;P	0.49090	0.919;0.592	P;B	0.55667	0.781;0.408	D	0.93166	0.6562	10	0.46703	T	0.11	-6.8999	18.2465	0.89988	0.0:0.0:1.0:0.0	.	11;11	E7ERF2;P17987	.;TCPA_HUMAN	S	11	ENSP00000317334:R11S;ENSP00000390159:R11S;ENSP00000441345:R11S	ENSP00000317334:R11S	R	-	1	0	TCP1	160130460	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.063000	0.57499	2.604000	0.88044	0.650000	0.86243	CGC			0.677	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042917.2		NM_030752	
TNRC18	84629	mdanderson.org	37	7	5428730	5428730	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:5428730G>A	ENST00000430969.1	-	5	1073	c.725C>T	c.(724-726)aCc>aTc	p.T242I	TNRC18_ENST00000399537.4_Missense_Mutation_p.T242I	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	242							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGCCTCCTGGGTCAGGTCCAC	0.781																																					p.T242I													.	.			0			c.C725T												2.0	2.0	2.0					7																	5428730		1133	2759	3892	SO:0001583	missense	84629	exon5			TCCTGGGTCAGGT	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.725C>T	7.37:g.5428730G>A	ENSP00000395538:p.Thr242Ile		Somatic	11	0	0		WXS	Illumina HiSeq	Phase_I	24	0.08	2	NM_001080495	11	0.00	0	A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	15.51	2.853800	0.51270	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.15718	2.4;2.4	4.34	4.34	0.51931	.	.	.	.	.	T	0.30479	0.0766	L	0.32530	0.975	0.42943	D	0.994354	D	0.76494	0.999	D	0.66716	0.946	T	0.08289	-1.0729	9	0.52906	T	0.07	.	16.8786	0.86058	0.0:0.0:1.0:0.0	.	242	O15417	TNC18_HUMAN	I	242	ENSP00000382452:T242I;ENSP00000395538:T242I	ENSP00000382452:T242I	T	-	2	0	TNRC18	5395256	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	6.452000	0.73485	1.935000	0.56089	0.550000	0.68814	ACC			0.781	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					
BBS9	27241	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	33388730	33388730	+	Silent	SNP	C	C	T	rs376024532		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:33388730C>T	ENST00000242067.6	+	13	1901	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	BBS9_ENST00000354265.4_Silent_p.Y460Y|BBS9_ENST00000350941.3_Silent_p.Y460Y|BBS9_ENST00000396127.2_Silent_p.Y460Y|BBS9_ENST00000355070.2_Silent_p.Y460Y	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	460					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TATCAGTCTACGTGCAACCAC	0.323									Bardet-Biedl syndrome																												p.Y460Y													.	.			0			c.C1380T							C	,,,	1,4405	2.1+/-5.4	0,1,2202	190.0	169.0	176.0		1380,1380,1380,1380	-2.7	0.6	7		176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	BBS9	NM_001033604.1,NM_001033605.1,NM_014451.3,NM_198428.2	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	460/853,460/883,460/848,460/888	33388730	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27241	exon13	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AGTCTACGTGCAA		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1380C>T	7.37:g.33388730C>T			Somatic	276	0	0		WXS	Illumina HiSeq	.	455	0.22	99	NM_014451	16	0.06	1	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	CCDS43566.1	.	.	.	.	.	.	.	.	.	.	C	1.748	-0.489892	0.04322	2.27E-4	0.0	ENSG00000122507	ENST00000434373	.	.	.	5.41	-2.71	0.05986	.	.	.	.	.	T	0.56572	0.1994	.	.	.	0.36945	D	0.892554	.	.	.	.	.	.	T	0.59101	-0.7517	4	.	.	.	-8.7386	12.3886	0.55347	0.0:0.542:0.0:0.458	.	.	.	.	C	27	.	.	R	+	1	0	BBS9	33355255	0.996000	0.38824	0.566000	0.28421	0.489000	0.33432	0.277000	0.18734	-0.498000	0.06632	-0.482000	0.04802	CGT			0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000329064.1			
NACAD	23148	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	45122754	45122754	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:45122754C>A	ENST00000490531.2	-	2	3044	c.3025G>T	c.(3025-3027)Gct>Tct	p.A1009S		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1009					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GGTGTCCCAGCTTCTGCAGCT	0.627																																					p.A1009S													NACAD,NS,carcinoma,+2,1	NACAD	2	1	0			c.G3025T												19.0	18.0	18.0					7																	45122754		692	1591	2283	SO:0001583	missense	23148	exon2			TCCCAGCTTCTGC	AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.3025G>T	7.37:g.45122754C>A	ENSP00000420477:p.Ala1009Ser		Somatic	76	0	0		WXS	Illumina HiSeq	.	116	0.23	27	NM_001146334	24	0.25	6		Missense_Mutation	SNP	ENST00000490531.2	37	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	C	8.518	0.867978	0.17250	.	.	ENSG00000136274	ENST00000490531	T	0.16073	2.37	3.7	-1.58	0.08479	.	964.081000	0.00906	N	0.002419	T	0.09512	0.0234	N	0.12746	0.255	0.09310	N	1	B	0.26363	0.147	B	0.17433	0.018	T	0.23368	-1.0190	10	0.45353	T	0.12	-0.0041	4.5072	0.11894	0.1671:0.2874:0.0:0.5455	.	1009	O15069	NACAD_HUMAN	S	1009	ENSP00000420477:A1009S	ENSP00000420477:A1009S	A	-	1	0	NACAD	45089279	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.710000	0.01888	-0.217000	0.10033	0.448000	0.29417	GCT			0.627	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353652.2		NM_001146334	
ASL	435	mdanderson.org	37	7	65552333	65552333	+	Silent	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:65552333A>G	ENST00000304874.9	+	9	717	c.615A>G	c.(613-615)gcA>gcG	p.A205A	AC068533.7_ENST00000450043.1_5'Flank|ASL_ENST00000395332.3_Silent_p.A205A|ASL_ENST00000380839.4_Silent_p.A179A|ASL_ENST00000395331.3_Silent_p.A205A	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	205					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GGGCCATTGCAGGCAATCCCC	0.632																																					p.A205A													.	.			0			c.A615G												81.0	67.0	72.0					7																	65552333		2203	4300	6503	SO:0001819	synonymous_variant	435	exon8			CATTGCAGGCAAT		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.615A>G	7.37:g.65552333A>G			Somatic	25	0	0		WXS	Illumina HiSeq	Phase_I	39	0.10	4	NM_001024943	48	0.00	0	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Silent	SNP	ENST00000304874.9	37	CCDS5531.1																																																																																					0.632	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251695.2		NM_000048	
PHTF2	57157	broad.mit.edu	37	7	77567055	77567055	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:77567055A>C	ENST00000248550.7	+	12	1443	c.1367A>C	c.(1366-1368)cAc>cCc	p.H456P	PHTF2_ENST00000454592.1_3'UTR|PHTF2_ENST00000307305.8_Missense_Mutation_p.H418P|PHTF2_ENST00000424760.1_Missense_Mutation_p.H418P|PHTF2_ENST00000422959.2_Missense_Mutation_p.H422P|PHTF2_ENST00000416283.2_Missense_Mutation_p.H422P|PHTF2_ENST00000275575.7_Missense_Mutation_p.H418P			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CATAGTTCCCACCCAGGATTA	0.299																																					p.H422P													.	PHTF2	104		0			c.A1265C												55.0	49.0	51.0					7																	77567055		1797	4061	5858	SO:0001583	missense	57157	exon11			GTTCCCACCCAGG	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1367A>C	7.37:g.77567055A>C	ENSP00000248550:p.His456Pro		Somatic	214	0.0186915888	4		WXS	Illumina HiSeq	Phase_I	441	0.03	15	NM_001127357	56	0.02	1	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37		.	.	.	.	.	.	.	.	.	.	A	14.42	2.530774	0.45073	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.19	4.01	0.46588	.	0.177545	0.47093	D	0.000247	T	0.34106	0.0886	N	0.14661	0.345	0.41262	D	0.986786	B;B;P;B;B;B	0.40875	0.256;0.357;0.731;0.004;0.001;0.158	B;B;B;B;B;B	0.37091	0.083;0.125;0.241;0.002;0.002;0.071	T	0.16541	-1.0399	9	0.42905	T	0.14	-9.5915	12.3676	0.55236	0.8587:0.1413:0.0:0.0	.	418;281;422;456;418;418	Q8N3S3-4;Q8N5I6;Q8N3S3-2;Q8N3S3;Q8N3S3-3;B3KQZ2	.;.;.;PHTF2_HUMAN;.;.	P	422;422;418;418;418;422;456	.	ENSP00000248550:H456P	H	+	2	0	PHTF2	77404991	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.910000	0.92685	0.893000	0.36288	0.482000	0.46254	CAC			0.299	PHTF2-006	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000340638.2		NM_020432	
PCLO	27445	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	82595343	82595343	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:82595343G>A	ENST00000333891.9	-	4	4098	c.3761C>T	c.(3760-3762)aCa>aTa	p.T1254I	PCLO_ENST00000423517.2_Missense_Mutation_p.T1254I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGGCTGATGTTTTTGCCTC	0.408																																					p.T1254I													.	.			0			c.C3761T												251.0	247.0	248.0					7																	82595343		1853	4088	5941	SO:0001583	missense	27445	exon4			GCTGATGTTTTTG	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3761C>T	7.37:g.82595343G>A	ENSP00000334319:p.Thr1254Ile		Somatic	267	0	0		WXS	Illumina HiSeq	.	430	0.20	86	NM_014510	1	0.00	0		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	10.02	1.236342	0.22626	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16324	2.35;2.35	5.09	4.2	0.49525	.	.	.	.	.	T	0.11367	0.0277	N	0.14661	0.345	0.46131	D	0.998888	B;B	0.13145	0.007;0.003	B;B	0.11329	0.006;0.003	T	0.07121	-1.0789	9	0.87932	D	0	.	11.8555	0.52435	0.1463:0.0:0.8537:0.0	.	1254;1254	Q9Y6V0-5;Q9Y6V0-6	.;.	I	1193;1254;1254	ENSP00000334319:T1254I;ENSP00000388393:T1254I	ENSP00000334319:T1254I	T	-	2	0	PCLO	82433279	0.011000	0.17503	0.002000	0.10522	0.009000	0.06853	1.151000	0.31651	1.490000	0.48466	0.655000	0.94253	ACA			0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337368.5		NM_014510	
GIGYF1	64599	mdanderson.org	37	7	100279588	100279588	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:100279588T>A	ENST00000275732.5	-	23	4163	c.2954A>T	c.(2953-2955)cAg>cTg	p.Q985L	GIGYF1_ENST00000471340.2_5'Flank	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	985					insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAAGGCCGTCTGCAGCGAGGC	0.677																																					p.Q985L													.	.			0			c.A2954T												31.0	29.0	30.0					7																	100279588		2202	4300	6502	SO:0001583	missense	64599	exon23			GCCGTCTGCAGCG	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.2954A>T	7.37:g.100279588T>A	ENSP00000275732:p.Gln985Leu		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_022574	164	0.00	0	Q6Y7W7|Q8WZ38	Missense_Mutation	SNP	ENST00000275732.5	37	CCDS34708.1	.	.	.	.	.	.	.	.	.	.	.	14.41	2.527939	0.44969	.	.	ENSG00000146830	ENST00000539430;ENST00000275732	D	0.84660	-1.88	5.14	5.14	0.70334	.	0.151564	0.44902	D	0.000417	T	0.78799	0.4340	L	0.42245	1.32	0.50039	D	0.999849	B	0.17667	0.023	B	0.19666	0.026	T	0.73745	-0.3886	10	0.36615	T	0.2	-15.0939	9.1101	0.36723	0.0:0.0:0.1845:0.8155	.	985	O75420	PERQ1_HUMAN	L	704;985	ENSP00000275732:Q985L	ENSP00000275732:Q985L	Q	-	2	0	GIGYF1	100117524	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.827000	0.48112	2.159000	0.67721	0.454000	0.30748	CAG			0.677	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347205.2		NM_022574	
EPHB4	2050	broad.mit.edu	37	7	100420018	100420018	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:100420018A>G	ENST00000358173.3	-	4	1151	c.683T>C	c.(682-684)gTc>gCc	p.V228A	EPHB4_ENST00000360620.3_Missense_Mutation_p.V228A|RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	228	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGGGCGGGGACGGCATCCAC	0.677																																					p.V228A	GBM(200;2113 3072 25865 52728)												.	EPHB4	106		0			c.T683C												19.0	21.0	20.0					7																	100420018		2191	4283	6474	SO:0001583	missense	2050	exon4			GCGGGGACGGCAT	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.683T>C	7.37:g.100420018A>G	ENSP00000350896:p.Val228Ala		Somatic	84	0.1547619048	13		WXS	Illumina HiSeq	Phase_I	138	0.23	32	NM_004444	172	0.05	8	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	A	6.549	0.469533	0.12461	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.73363	-0.74;-0.72	5.76	4.62	0.57501	.	0.754947	0.11326	N	0.575560	T	0.64136	0.2571	L	0.38838	1.175	0.27501	N	0.951997	B;B;B;B;B	0.10296	0.0;0.003;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.0;0.002;0.0;0.0;0.0	T	0.52909	-0.8512	10	0.33940	T	0.23	.	9.2718	0.37675	0.9158:0.0:0.0842:0.0	.	228;228;228;228;228	B5A972;B5A971;B5A970;Q96L35;P54760	.;.;.;.;EPHB4_HUMAN	A	228	ENSP00000353833:V228A;ENSP00000350896:V228A	ENSP00000350896:V228A	V	-	2	0	EPHB4	100257954	0.266000	0.24112	0.465000	0.27155	0.035000	0.12851	2.762000	0.47597	2.192000	0.70111	0.533000	0.62120	GTC			0.677	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347222.1		NM_004444	
COL26A1	136227	broad.mit.edu	37	7	101190504	101190504	+	RNA	SNP	T	T	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:101190504T>G	ENST00000397927.3	+	0	1137				COL26A1_ENST00000313669.7_RNA|COL26A1_ENST00000528707.1_RNA	NM_001278563.1	NP_001265492.1	Q96A83	COQA1_HUMAN	collagen, type XXVI, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)											GACCCCGGGGTCCCCCTGGTC	0.662																																					.													.	.			0			.												15.0	19.0	18.0					7																	101190504		1876	4069	5945			136227	.			CCGGGGTCCCCCT	AJ416091	CCDS64739.1	7q22.1	2013-01-16	2013-01-16	2013-01-16	ENSG00000160963	ENSG00000160963		"""Collagens"", ""EMI domain containing"""	18038	protein-coding gene	gene with protein product	"""Emu2 gene"""	608927	"""EMI domain containing 2"""	EMID2		12221002, 12145293	Standard	NM_001278563		Approved	Emu2, EMI6	uc003uyo.1	Q96A83	OTTHUMG00000150033		7.37:g.101190504T>G			Somatic	181	0.0994475138	18		WXS	Illumina HiSeq	Phase_I	236	0.15	36	.	51	0.02	1	Q32M90	RNA	SNP	ENST00000397927.3	37																																																																																						0.662	COL26A1-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000315898.2		NM_133457	
LAMB4	22798	broad.mit.edu	37	7	107703251	107703251	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:107703251G>T	ENST00000388781.3	-	23	3333	c.3250C>A	c.(3250-3252)Cct>Act	p.P1084T	LAMB4_ENST00000388780.3_Missense_Mutation_p.P1084T|LAMB4_ENST00000205386.4_Missense_Mutation_p.P1084T	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1084	Laminin EGF-like 12. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAGGTCCTAGGGTCACAGTCA	0.488																																					p.P1084T													.	LAMB4	253		0			c.C3250A												74.0	60.0	65.0					7																	107703251		2203	4300	6503	SO:0001583	missense	22798	exon23			TCCTAGGGTCACA	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3250C>A	7.37:g.107703251G>T	ENSP00000373433:p.Pro1084Thr		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	270	0.02	6	NM_007356	1	0.00	0	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.875116	0.51695	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	4.88	3.0	0.34707	EGF-like, laminin (3);	0.281355	0.25509	N	0.030195	T	0.63367	0.2505	L	0.57536	1.79	0.80722	D	1	P;B	0.35714	0.517;0.433	P;B	0.46452	0.517;0.285	T	0.62201	-0.6904	10	0.59425	D	0.04	.	6.5892	0.22638	0.1497:0.0:0.7049:0.1453	.	1084;1084	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	T	1084;1084;110;1084	ENSP00000205386:P1084T;ENSP00000373433:P1084T;ENSP00000416562:P110T;ENSP00000373432:P1084T	ENSP00000205386:P1084T	P	-	1	0	LAMB4	107490487	0.998000	0.40836	0.577000	0.28562	0.967000	0.64934	1.930000	0.40124	0.718000	0.32166	0.650000	0.86243	CCT			0.488	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000337442.1		XM_209857	
EPHB6	2051	broad.mit.edu	37	7	142561026	142561027	+	Frame_Shift_Ins	INS	-	-	G	rs200527751		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:142561026_142561027insG	ENST00000392957.2	+	5	828_829	c.41_42insG	c.(40-45)gcgggcfs	p.AG14fs	EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.AG14fs|EPHB6_ENST00000411471.2_Frame_Shift_Ins_p.AG14fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	14						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AACAGAGTGGCGGGCATGGTGT	0.614																																					p.A14fs													.	EPHB6	168		0			c.41_42insG																																									SO:0001589	frameshift_variant	0	exon5			GAGTGGCGGGCAT	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.44dupG	7.37:g.142561029_142561029dupG	ENSP00000376684:p.Ala14fs		Somatic	158	0	0		WXS	Illumina HiSeq	Phase_I	207	0.03	6	NM_004445	7	0.00	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Frame_Shift_Ins	INS	ENST00000392957.2	37	CCDS5873.2																																																																																					0.614	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341329.1			
KMT2C	58508	broad.mit.edu	37	7	151873927	151873927	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr7:151873927G>T	ENST00000262189.6	-	38	8829	c.8611C>A	c.(8611-8613)Cat>Aat	p.H2871N	KMT2C_ENST00000355193.2_Missense_Mutation_p.H2871N	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2871					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|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)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCACAAGGATGCAAAGAAGTC	0.413																																					p.H2871N													.	MLL3	1564		0			c.C8611A												120.0	115.0	117.0					7																	151873927		2203	4300	6503	SO:0001583	missense	58508	exon38			AAGGATGCAAAGA	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.8611C>A	7.37:g.151873927G>T	ENSP00000262189:p.His2871Asn		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	166	0.02	4	NM_170606	11	0.00	0	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.105|2.105	-0.405105|-0.405105	0.04832|0.04832	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|D;D	.|0.82526	.|-1.62;-1.62	5.4|5.4	2.4|2.4	0.29515|0.29515	.|.	.|0.333168	.|0.21290	.|N	.|0.076996	T|T	0.63331|0.63331	0.2502|0.2502	N|N	0.08118|0.08118	0|0	0.20638|0.20638	N|N	0.999879|0.999879	.|B;B;B	.|0.19817	.|0.028;0.039;0.001	.|B;B;B	.|0.18871	.|0.006;0.023;0.0	T|T	0.51624|0.51624	-0.8682|-0.8682	5|10	.|0.26408	.|T	.|0.33	.|.	8.4469|8.4469	0.32847|0.32847	0.0673:0.1127:0.7039:0.116|0.0673:0.1127:0.7039:0.116	.|.	.|2871;1932;2871	.|Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	.|MLL3_HUMAN;.;.	E|N	376|2871	.|ENSP00000262189:H2871N;ENSP00000347325:H2871N	.|ENSP00000262189:H2871N	A|H	-|-	2|1	0|0	MLL3|MLL3	151504860|151504860	0.003000|0.003000	0.15002|0.15002	0.002000|0.002000	0.10522|0.10522	0.392000|0.392000	0.30506|0.30506	1.303000|1.303000	0.33470|0.33470	1.239000|1.239000	0.43787|0.43787	0.650000|0.650000	0.86243|0.86243	GCA|CAT			0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000318887.3			
CSPP1	79848	broad.mit.edu	37	8	68049789	68049789	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr8:68049789delA	ENST00000262210.5	+	15	1942	c.1911delA	c.(1909-1911)ggafs	p.G637fs	CSPP1_ENST00000412460.1_Frame_Shift_Del_p.G343fs	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	672					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ATCCCTGGGGAAAAGGTGGAG	0.348																																					p.G637fs													.	CSPP1	129		0			c.1911delA												85.0	89.0	88.0					8																	68049789		1845	4085	5930	SO:0001589	frameshift_variant	79848	exon15			CTGGGGAAAAGGT	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1911delA	8.37:g.68049789delA	ENSP00000262210:p.Gly637fs		Somatic	287	0	0		WXS	Illumina HiSeq	Phase_I	885	0.01	7	NM_024790	49	0.00	0	A6ND63|Q70F00|Q8TBC1	Frame_Shift_Del	DEL	ENST00000262210.5	37	CCDS43744.1																																																																																					0.348	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000379254.1		NM_024790	
SLC26A7	115111	broad.mit.edu	37	8	92261932	92261932	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr8:92261932delC	ENST00000276609.3	+	2	292	c.53delC	c.(52-54)accfs	p.T18fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.T18fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.T18fs	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AAGATGCATACCCCCCAGTGT	0.398																																					p.T18fs													.	SLC26A7	207		0			c.53delC												128.0	112.0	117.0					8																	92261932		2203	4300	6503	SO:0001589	frameshift_variant	115111	exon2			TGCATACCCCCCA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.53delC	8.37:g.92261932delC	ENSP00000276609:p.Thr18fs		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	356	0.02	7	NM_134266	1	0.00	0		Frame_Shift_Del	DEL	ENST00000276609.3	37	CCDS6254.1																																																																																					0.398	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377011.1			
PPP1R16A	84988	mdanderson.org	37	8	145727188	145727188	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr8:145727188T>A	ENST00000292539.4	+	11	2406	c.1489T>A	c.(1489-1491)Tgt>Agt	p.C497S	GPT_ENST00000394955.2_5'Flank|GPT_ENST00000528431.1_5'Flank|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.C497S|CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	497						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCAGCCTGACTGTGGCTTCAG	0.701																																					p.C497S													.	.			0			c.T1489A												13.0	14.0	14.0					8																	145727188		2141	4227	6368	SO:0001583	missense	84988	exon10			CCTGACTGTGGCT		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.1489T>A	8.37:g.145727188T>A	ENSP00000292539:p.Cys497Ser		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_032902	52	0.00	0	D3DWM5	Missense_Mutation	SNP	ENST00000292539.4	37	CCDS6429.1	.	.	.	.	.	.	.	.	.	.	T	7.813	0.716187	0.15306	.	.	ENSG00000160972	ENST00000292539;ENST00000435887	T;T	0.69435	-0.4;-0.4	4.48	-3.36	0.04913	.	1.462480	0.04260	N	0.340214	T	0.41373	0.1156	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.30179	-0.9987	10	0.05620	T	0.96	.	1.2274	0.01936	0.136:0.1678:0.2806:0.4156	.	497	Q96I34	PP16A_HUMAN	S	497	ENSP00000292539:C497S;ENSP00000391126:C497S	ENSP00000292539:C497S	C	+	1	0	PPP1R16A	145697996	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	-0.199000	0.09491	-1.016000	0.03371	0.379000	0.24179	TGT			0.701	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382459.1		NM_032902	
GALT	2592	broad.mit.edu	37	9	34649411	34649411	+	Silent	SNP	T	T	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:34649411T>C	ENST00000378842.3	+	10	951	c.909T>C	c.(907-909)gcT>gcC	p.A303A	IL11RA_ENST00000441545.2_5'Flank|GALT_ENST00000450095.2_Silent_p.A194A|GALT_ENST00000488412.2_3'UTR|GALT_ENST00000556278.1_Intron|IL11RA_ENST00000555003.1_5'Flank	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	303					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TGTCAGGGGCTCCCACAGGAT	0.542									Galactosemia																												p.A303A													.	GALT	29		0			c.T909C												88.0	91.0	90.0					9																	34649411		2203	4300	6503	SO:0001819	synonymous_variant	2592	exon10	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	AGGGGCTCCCACA	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.909T>C	9.37:g.34649411T>C			Somatic	68	0.0147058824	1		WXS	Illumina HiSeq	Phase_I	78	0.09	7	NM_000155	46	0.00	0	B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Silent	SNP	ENST00000378842.3	37	CCDS6565.1																																																																																					0.542	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052231.1		NM_000155	
FAM205A	259308	broad.mit.edu;mdanderson.org	37	9	34725432	34725432	+	Missense_Mutation	SNP	C	C	T	rs77610593		TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:34725432C>T	ENST00000378788.3	-	4	1844	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	602				R -> H (in Ref. 1; BAC86357). {ECO:0000305}.		integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						CCAGCGATGGCGAATCAACTG	0.567																																					p.R602H													.	FAM205A	45		0			c.G1805A												31.0	18.0	22.0					9																	34725432		676	1221	1897	SO:0001583	missense	259308	exon4			CGATGGCGAATCA		CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.1805G>A	9.37:g.34725432C>T	ENSP00000417711:p.Arg602His		Somatic	199	0	0		WXS	Illumina HiSeq	Phase_I	32	0.19	6	NM_001141917	0		0	A8MVW7	Missense_Mutation	SNP	ENST00000378788.3	37	CCDS55305.1	335	0.1533882783882784	8	0.016260162601626018	73	0.20165745856353592	117	0.20454545454545456	137	0.18073878627968337	T	0.824	-0.747613	0.03065	.	.	ENSG00000205108	ENST00000378788	T	0.06687	3.27	4.28	4.28	0.50868	.	.	.	.	.	T	0.00012	0.0000	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42649	-0.9439	8	0.02654	T	1	.	6.916	0.24359	0.0:0.11:0.0:0.89	.	602	Q6ZU69	F205A_HUMAN	H	602	ENSP00000417711:R602H	ENSP00000417711:R602H	R	-	2	0	RP11-195F19.10	34715432	0.150000	0.22732	0.084000	0.20598	0.770000	0.43624	0.762000	0.26503	0.599000	0.29845	-0.381000	0.06696	CGC			0.567	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001150.2		NM_001141917	
TESK1	7016	broad.mit.edu	37	9	35609179	35609179	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:35609179T>C	ENST00000336395.5	+	10	1571	c.1321T>C	c.(1321-1323)Tcc>Ccc	p.S441P	MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR|CD72_ENST00000490239.1_5'Flank	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	441					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACTACCCTCATCCCCCGAGCT	0.672																																					p.S441P													TESK1,NS,carcinoma,0,1	TESK1	46	1	0			c.T1321C												53.0	63.0	60.0					9																	35609179		2199	4296	6495	SO:0001583	missense	7016	exon10			CCCTCATCCCCCG	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1321T>C	9.37:g.35609179T>C	ENSP00000338127:p.Ser441Pro		Somatic	77	0.1688311688	13		WXS	Illumina HiSeq	Phase_I	65	0.28	18	NM_006285	49	0.12	6	Q8IXZ8	Missense_Mutation	SNP	ENST00000336395.5	37	CCDS6580.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.521822	0.64747	.	.	ENSG00000107140	ENST00000336395	T	0.69175	-0.38	5.69	5.69	0.88448	.	0.000000	0.44483	D	0.000445	T	0.72495	0.3467	L	0.52011	1.625	0.44798	D	0.997808	D;D	0.61697	0.99;0.99	P;P	0.54815	0.743;0.761	T	0.75651	-0.3244	10	0.72032	D	0.01	-23.1913	14.777	0.69738	0.0:0.0:0.0:1.0	.	359;441	B4DQQ3;Q15569	.;TESK1_HUMAN	P	441	ENSP00000338127:S441P	ENSP00000338127:S441P	S	+	1	0	TESK1	35599179	1.000000	0.71417	0.999000	0.59377	0.707000	0.40811	3.342000	0.52159	2.162000	0.67917	0.533000	0.62120	TCC			0.672	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052314.1		NM_006285	
GBA2	57704	mdanderson.org	37	9	35741872	35741872	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:35741872G>A	ENST00000378103.3	-	4	1106	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	GBA2_ENST00000378094.4_Missense_Mutation_p.R195C|GBA2_ENST00000545786.1_Missense_Mutation_p.R201C|GBA2_ENST00000467252.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	195					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTCCCGACGCAGGCACACT	0.572																																					p.R195C													.	.			0			c.C583T												61.0	52.0	55.0					9																	35741872		2203	4300	6503	SO:0001583	missense	57704	exon4			CCCGACGCAGGCA	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.583C>T	9.37:g.35741872G>A	ENSP00000367343:p.Arg195Cys		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_020944	15	0.00	0	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783411	0.90282	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.68	4.79	0.61399	Beta-glucosidase, GBA2 type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81365	0.4807	M	0.86953	2.85	0.80722	D	1	B;D;B	0.89917	0.257;1.0;0.302	B;D;B	0.87578	0.042;0.998;0.071	D	0.84921	0.0854	9	0.72032	D	0.01	-6.2065	14.6242	0.68608	0.0698:0.0:0.9302:0.0	.	201;195;195	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	C	195;195;201	.	ENSP00000367334:R195C	R	-	1	0	GBA2	35731872	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.753000	0.98904	1.406000	0.46857	0.563000	0.77884	CGT			0.572	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000055456.1		NM_020944	
LRSAM1	90678	broad.mit.edu	37	9	130216851	130216851	+	Silent	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:130216851G>T	ENST00000323301.4	+	2	649	c.45G>T	c.(43-45)cgG>cgT	p.R15R	LRSAM1_ENST00000373322.1_Silent_p.R15R|LRSAM1_ENST00000373324.4_Silent_p.R15R|LRSAM1_ENST00000300417.6_Silent_p.R15R	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	15					cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGAGGCTCGGAAACGCCTGG	0.567																																					p.R15R													LRSAM1,NS,malignant_melanoma,+2,1	LRSAM1	40	1	0			c.G45T												107.0	104.0	105.0					9																	130216851		2203	4300	6503	SO:0001819	synonymous_variant	90678	exon3			GGCTCGGAAACGC	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.45G>T	9.37:g.130216851G>T			Somatic	178	0.0056179775	1		WXS	Illumina HiSeq	Phase_I	205	0.03	6	NM_001005373	5	0.00	0	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Silent	SNP	ENST00000323301.4	37	CCDS6873.1																																																																																					0.567	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054164.1		NM_138361	
C9orf62	157927	mdanderson.org	37	9	138236031	138236031	+	Silent	SNP	A	A	T	rs914398	byFrequency	TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:138236031A>T	ENST00000320778.2	+	2	387	c.237A>T	c.(235-237)ccA>ccT	p.P79P		NM_173520.2	NP_775791.1	Q8N4C0	CI062_HUMAN	chromosome 9 open reading frame 62	79																	CCGGACGCCCAGTCCTGGGCT	0.622											OREG0019607	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P79P													.	.			0			c.A237T																																									SO:0001819	synonymous_variant	157927	exon2			ACGCCCAGTCCTG	BC034752	CCDS59154.1	9q34.3	2008-02-05			ENSG00000178243	ENSG00000178243			28581	protein-coding gene	gene with protein product						12477932	Standard	NM_173520		Approved	MGC35463	uc004cfo.3	Q8N4C0	OTTHUMG00000020900	ENST00000320778.2:c.237A>T	9.37:g.138236031A>T			Somatic	32	0	0	1639	WXS	Illumina HiSeq	Phase_I	40	0.08	3	NM_173520	0		0	Q5T7E2	Silent	SNP	ENST00000320778.2	37	CCDS59154.1																																																																																					0.622	C9orf62-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000054980.2		NM_173520	
EHMT1	79813	broad.mit.edu	37	9	140637837	140637837	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr9:140637837G>T	ENST00000460843.1	+	5	865	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F	EHMT1_ENST00000334856.6_Missense_Mutation_p.V249F|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.V280F	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	280					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.V249F(2)|p.V280F(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		cttgccttttgttttAGCAGC	0.358																																					p.V280F													EHMT1_ENST00000460843,NS,carcinoma,0,6	EHMT1	196	6	4	Substitution - Missense(4)	endometrium(4)	c.G838T												35.0	35.0	35.0					9																	140637837		2203	4300	6503	SO:0001583	missense	79813	exon5			CCTTTTGTTTTAG	AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.838G>T	9.37:g.140637837G>T	ENSP00000417980:p.Val280Phe		Somatic	46	0.1956521739	9		WXS	Illumina HiSeq	Phase_I	23	0.48	11	NM_001145527	45	0.00	0	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	ENST00000460843.1	37	CCDS7050.2	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065618	0.55539	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70631	1.61;0.83;-0.5	5.42	5.42	0.78866	.	0.151391	0.42294	D	0.000734	T	0.77552	0.4147	L	0.44542	1.39	0.32618	N	0.523778	P;D;B	0.63880	0.94;0.993;0.302	P;P;B	0.59487	0.564;0.858;0.117	T	0.81955	-0.0696	10	0.56958	D	0.05	.	17.9855	0.89154	0.0:0.0:1.0:0.0	.	280;249;280	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	F	249;249;280;280	ENSP00000334476:V249F;ENSP00000417328:V280F;ENSP00000417980:V280F	ENSP00000334476:V249F	V	+	1	0	EHMT1	139757658	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.547000	0.36190	2.539000	0.85634	0.561000	0.74099	GTT			0.358	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055371.2		NM_024757	
PCYT1B	9468	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	24665186	24665186	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:24665186C>T	ENST00000379144.2	-	1	167	c.37G>A	c.(37-39)Ggt>Agt	p.G13S	PCYT1B_ENST00000356768.4_Missense_Mutation_p.G13S|PCYT1B_ENST00000379145.1_Intron	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	13					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TTTGGGATACCTGTTTCTGAC	0.498																																					p.G13S													.	.			0			c.G37A												190.0	142.0	158.0					X																	24665186		2203	4300	6503	SO:0001583	missense	9468	exon1			GGATACCTGTTTC	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.37G>A	X.37:g.24665186C>T	ENSP00000368439:p.Gly13Ser		Somatic	91	0	0		WXS	Illumina HiSeq	.	177	0.42	74	NM_004845	2	0.00	0	A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	c	15.91	2.971850	0.53614	.	.	ENSG00000102230	ENST00000379144;ENST00000356768	.	.	.	4.88	4.88	0.63580	.	0.073922	0.53938	D	0.000051	T	0.58736	0.2143	N	0.14661	0.345	0.42886	D	0.994181	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	T	0.56347	-0.7994	9	0.18710	T	0.47	-14.5848	15.9172	0.79531	0.0:1.0:0.0:0.0	.	13;13	Q9Y5K3-2;Q9Y5K3	.;PCY1B_HUMAN	S	13	.	ENSP00000349211:G13S	G	-	1	0	PCYT1B	24575107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.435000	0.66532	2.272000	0.75746	0.585000	0.79938	GGT			0.498	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056103.1		NM_004845	
ARX	170302	mdanderson.org	37	X	25025374	25025374	+	Silent	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:25025374G>A	ENST00000379044.4	-	4	1512	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	434	Ala-rich.|Pro-rich.				axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						cggcggcggcggcagcggcAG	0.781																																					p.A434A													.	.			0			c.C1302T												2.0	4.0	3.0					X																	25025374		1307	2560	3867	SO:0001819	synonymous_variant	170302	exon4			GGCGGCGGCAGCG	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.1302C>T	X.37:g.25025374G>A			Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	20	0.10	2	NM_139058	4	0.00	0		Silent	SNP	ENST00000379044.4	37	CCDS14215.1																																																																																					0.781	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056109.1			
TAF1	6872	hgsc.bcm.edu	37	X	70640921	70640921	+	Intron	SNP	T	T	C			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:70640921T>C	ENST00000373790.4	+	29	4432				TAF1_ENST00000276072.3_Intron|TAF1_ENST00000423759.1_Intron|TAF1_ENST00000449580.1_Intron	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa						cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTAGTACTACTGTGTGTAGAT	0.388																																					.													.	.			0			.																																									SO:0001627	intron_variant	618	.			TACTACTGTGTGT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4382-238T>C	X.37:g.70640921T>C			Somatic	10	0	0		WXS	Illumina HiSeq	.	16	0.31	5	.	0		0	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	RNA	SNP	ENST00000373790.4	37	CCDS35325.1																																																																																					0.388	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000058995.2		NM_004606	
MAGEC1	9947	broad.mit.edu	37	X	140995247	140995247	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:140995247A>G	ENST00000285879.4	+	4	2343	c.2057A>G	c.(2056-2058)gAg>gGg	p.E686G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	686										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGGGGGAGGATTCCCTG	0.577										HNSCC(15;0.026)																											p.E686G													.	MAGEC1	317		0			c.A2057G												63.0	65.0	64.0					X																	140995247		2203	4299	6502	SO:0001583	missense	9947	exon4			AGGGGGAGGATTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2057A>G	X.37:g.140995247A>G	ENSP00000285879:p.Glu686Gly		Somatic	150	0.0133333333	2		WXS	Illumina HiSeq	Phase_I	236	0.03	6	NM_005462	0		0	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	6.643	0.487175	0.12641	.	.	ENSG00000155495	ENST00000285879	T	0.03689	3.84	0.118	0.118	0.14667	.	.	.	.	.	T	0.02083	0.0065	N	0.19112	0.55	0.18873	N	0.999981	P	0.38110	0.618	B	0.28638	0.092	T	0.45760	-0.9239	9	0.66056	D	0.02	.	4.6021	0.12359	0.9995:0.0:5.0E-4:0.0	.	686	O60732	MAGC1_HUMAN	G	686	ENSP00000285879:E686G	ENSP00000285879:E686G	E	+	2	0	MAGEC1	140822913	0.002000	0.14202	0.022000	0.16811	0.022000	0.10575	0.424000	0.21330	0.153000	0.19213	0.151000	0.16131	GAG			0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000058604.1		NM_005462	
MAGEA10	4109	hgsc.bcm.edu	37	X	151303919	151303919	+	Silent	SNP	G	G	A			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:151303919G>A	ENST00000370323.4	-	4	490	c.174C>T	c.(172-174)tcC>tcT	p.S58S	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Silent_p.S58S	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	58	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggaggaagaggagg	0.552																																					p.S58S													.	.			0			c.C174T												68.0	71.0	70.0					X																	151303919		2203	4300	6503	SO:0001819	synonymous_variant	4109	exon5			GGAGGAGGAAGAG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.174C>T	X.37:g.151303919G>A			Somatic	56	0	0		WXS	Illumina HiSeq	.	98	0.04	4	NM_001011543	0		0		Silent	SNP	ENST00000370323.4	37	CCDS14705.1																																																																																					0.552	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060916.3		NM_021048	
PNMA3	29944	broad.mit.edu	37	X	152226011	152226011	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrX:152226011A>G	ENST00000370264.4	+	1	625	c.599A>G	c.(598-600)gAa>gGa	p.E200G	PNMA3_ENST00000370265.4_Missense_Mutation_p.E200G|PNMA3_ENST00000447306.1_Missense_Mutation_p.E200G			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	200					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cccgagggggaaaagaggcgg	0.587																																					p.E200G													.	PNMA3	81		0			c.A599G												65.0	64.0	64.0					X																	152226011		2203	4300	6503	SO:0001583	missense	29944	exon2			AGGGGGAAAAGAG	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.599A>G	X.37:g.152226011A>G	ENSP00000359286:p.Glu200Gly		Somatic	28	0.1428571429	4		WXS	Illumina HiSeq	Phase_I	74	0.23	17	NM_013364	2	0.00	0	D3DWT7|Q9H0A4	Missense_Mutation	SNP	ENST00000370264.4	37	CCDS35435.2	.	.	.	.	.	.	.	.	.	.	a	13.68	2.310689	0.40895	.	.	ENSG00000183837	ENST00000370265;ENST00000447306;ENST00000370264	T;T;T	0.13538	2.58;2.58;2.58	1.98	1.98	0.26296	.	.	.	.	.	T	0.31827	0.0809	M	0.75447	2.3	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04693	-1.0933	9	0.87932	D	0	.	5.4244	0.16417	1.0:0.0:0.0:0.0	.	200	Q9UL41	PNMA3_HUMAN	G	200	ENSP00000359288:E200G;ENSP00000407642:E200G;ENSP00000359286:E200G	ENSP00000359286:E200G	E	+	2	0	PNMA3	151976667	0.302000	0.24454	0.007000	0.13788	0.009000	0.06853	2.310000	0.43708	1.055000	0.40461	0.378000	0.23410	GAA			0.587	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060946.2		NM_013364	
USP9Y	8287	mdanderson.org	37	Y	14952390	14952390	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chrY:14952390C>T	ENST00000338981.3	+	36	6883	c.5938C>T	c.(5938-5940)Cat>Tat	p.H1980Y	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1980					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGCAAGACCCCATCAGATCAT	0.338																																					p.H1980Y													.	.			0			c.C5938T																																									SO:0001583	missense	8287	exon36			AGACCCCATCAGA	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.5938C>T	Y.37:g.14952390C>T	ENSP00000342812:p.His1980Tyr		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	50	0.08	4	NM_004654	5	0.00	0	O14601	Missense_Mutation	SNP	ENST00000338981.3	37	CCDS14781.1																																																																																					0.338	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000088703.2		NM_004654	
MAPK8IP2	23542	mdanderson.org	37	22	51041788	51041788	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAGE-01A-21D-A42Y-10	TCGA-2G-AAGE-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	588b4862-5bb8-4ce6-86b5-bd21313c181a	6f466e61-7d52-46f3-b357-9e24c1509fa9	g.chr22:51041788A>G	ENST00000329492.3	+	3	425	c.308A>G	c.(307-309)gAg>gGg	p.E103G	MAPK8IP2_ENST00000341339.4_Intron|MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.E76G|MAPK8IP2_ENST00000399912.1_5'UTR|CHKB_ENST00000463053.1_5'Flank|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.E103G	NM_012324.3	NP_036456.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	103	Asp/Glu-rich (acidic).				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)		gaggaggaggaggGAGATGGG	0.617																																					.													.	.			0			.												24.0	34.0	31.0					22																	51041788		2120	4230	6350	SO:0001583	missense	23542	.			AGGAGGAGGGAGA	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	ENST00000329492.3:c.308A>G	22.37:g.51041788A>G	ENSP00000330572:p.Glu103Gly		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	.	3	0.00	0	Q96G62|Q99771|Q9NZ59|Q9UKQ4	Missense_Mutation	SNP	ENST00000329492.3	37		.	.	.	.	.	.	.	.	.	.	A	9.202	1.028708	0.19512	.	.	ENSG00000008735	ENST00000329492;ENST00000442429;ENST00000008876	T;T;T	0.56941	0.84;0.43;2.04	4.78	2.49	0.30216	.	0.653949	0.12692	N	0.447141	T	0.32852	0.0843	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.16012	-1.0417	10	0.30854	T	0.27	-6.1423	5.7391	0.18083	0.7599:0.0:0.0902:0.1499	.	76;103	E7EQG6;Q13387	.;JIP2_HUMAN	G	103;103;76	ENSP00000330572:E103G;ENSP00000404914:E103G;ENSP00000008876:E76G	ENSP00000008876:E76G	E	+	2	0	MAPK8IP2	49388654	0.985000	0.35326	0.911000	0.35937	0.029000	0.11900	0.922000	0.28734	0.803000	0.34113	0.454000	0.30748	GAG			0.617	MAPK8IP2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_012324	
