#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
C1orf127	148345	broad.mit.edu	37	1	11014129	11014129	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:11014129G>A	ENST00000377008.4	-	9	991	c.545C>T	c.(544-546)gCc>gTc	p.A182V	C1orf127_ENST00000377004.4_Missense_Mutation_p.A349V			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	182										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		AGCCATCTCGGCAAATTCCAG	0.557																																					p.A349V													.	C1orf127	134		0			c.C1046T												131.0	131.0	131.0					1																	11014129		2203	4300	6503	SO:0001583	missense	148345	exon10			ATCTCGGCAAATT	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.545C>T	1.37:g.11014129G>A	ENSP00000366207:p.Ala182Val		Somatic	347	0	0		WXS	Illumina HiSeq	Phase_I	406	0.02	8	NM_001170754	2	0.00	0	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.809742|1.809742	0.31961|0.31961	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.29397|.	1.57;1.57|.	4.98|4.98	3.01|3.01	0.34805|0.34805	.|.	1.289130|.	0.05473|.	N|.	0.553346|.	T|T	0.30262|0.30262	0.0759|0.0759	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	P;P;P|.	0.44816|.	0.844;0.728;0.844|.	P;B;P|.	0.49421|.	0.46;0.313;0.61|.	T|T	0.20940|0.20940	-1.0260|-1.0260	10|5	0.72032|.	D|.	0.01|.	-0.4604|-0.4604	8.6356|8.6356	0.33945|0.33945	0.1943:0.0:0.8057:0.0|0.1943:0.0:0.8057:0.0	.|.	200;200;182|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	V|S	349;182|184;327	ENSP00000366203:A349V;ENSP00000366207:A182V|.	ENSP00000366203:A349V|.	A|P	-|-	2|1	0|0	C1orf127|C1orf127	10936716|10936716	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.036000|0.036000	0.12997|0.12997	0.300000|0.300000	0.19156|0.19156	0.449000|0.449000	0.26747|0.26747	-0.345000|-0.345000	0.07892|0.07892	GCC|CCG			0.557	C1orf127-202	KNOWN	basic	protein_coding	protein_coding				NM_173507	
Unknown	0	bcgsc.ca	37	1	11940212	11940212	+	IGR	SNP	C	C	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:11940212C>G								NPPB (21224 upstream) : RNU5E-1 (27996 downstream)																							CTTCATGAAGCCTTGGAAGGC	0.587																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			ATGAAGCCTTGGA																													1.37:g.11940212C>G			Somatic	43	0	0		WXS	Illumina HiSeq	Phase_1	61	0.25	15	.	0		0		RNA	SNP		37																																																																																					0	0.587										
PRAMEF1	65121	broad.mit.edu	37	1	12856083	12856084	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:12856083_12856084insC	ENST00000332296.7	+	4	1466_1467	c.1363_1364insC	c.(1363-1365)accfs	p.T455fs	PRAMEF1_ENST00000400814.3_Frame_Shift_Ins_p.T210fs	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	455					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)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		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)		CATTGGCCCCACCCCCTGCCCT	0.559																																					p.T455fs													.	PRAMEF1	78		0			c.1363_1364insC																																									SO:0001589	frameshift_variant	65121	exon4			GGCCCCACCCCCT	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1368dupC	1.37:g.12856088_12856088dupC	ENSP00000332134:p.Thr455fs		Somatic	1067	0	0		WXS	Illumina HiSeq	Phase_I	1405	0.00	0	NM_023013	0		0	Q9UQP2	Frame_Shift_Ins	INS	ENST00000332296.7	37	CCDS148.1																																																																																					0.559	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005458.1		NM_023013	
ALDH4A1	8659	mdanderson.org	37	1	19216599	19216599	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:19216599G>T	ENST00000375341.3	-	2	320	c.63C>A	c.(61-63)ggC>ggA	p.G21G	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_5'UTR|ALDH4A1_ENST00000538839.1_Splice_Site_p.G21G|ALDH4A1_ENST00000290597.5_Splice_Site_p.G21G	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	21					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCACCGCAGGCTGGAACACA	0.652																																					p.G21G													.	.			0			c.C63A												36.0	30.0	32.0					1																	19216599		2203	4300	6503	SO:0001630	splice_region_variant	8659	exon2			CCGCAGGCTGGAA	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.63-1C>A	1.37:g.19216599G>T			Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	60	0.08	5	NM_003748	17	0.00	0	A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	CCDS188.1																																																																																					0.652	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006954.1			Silent
LDLRAD2	401944	broad.mit.edu	37	1	22141108	22141108	+	Silent	SNP	G	G	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:22141108G>C	ENST00000344642.2	+	2	490	c.303G>C	c.(301-303)ccG>ccC	p.P101P	LDLRAD2_ENST00000543870.1_Silent_p.P101P	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	101						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		CCTCCTCCCCGGCCCCGGCCG	0.756																																					p.P101P													.	LDLRAD2	17		0			c.G303C																																									SO:0001819	synonymous_variant	401944	exon2			CTCCCCGGCCCCG	AL590103	CCDS30624.1	1p36.12	2008-02-05	2005-10-07		ENSG00000187942	ENSG00000187942			32071	protein-coding gene	gene with protein product			"""low density lipoprotein receptor A domain containing 2"""				Standard	NM_001013693		Approved		uc001bfg.1	Q5SZI1	OTTHUMG00000002675	ENST00000344642.2:c.303G>C	1.37:g.22141108G>C			Somatic	171	0.0584795322	10		WXS	Illumina HiSeq	Phase_I	200	0.09	17	NM_001013693	0		0	B9EJB3|Q6ZSN5	Silent	SNP	ENST00000344642.2	37	CCDS30624.1																																																																																					0.756	LDLRAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000007601.1		NM_001013693	
FAAH	2166	mdanderson.org	37	1	46874212	46874212	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:46874212G>T	ENST00000243167.8	+	8	1117	c.1033G>T	c.(1033-1035)Gcc>Tcc	p.A345S	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	345			A -> D (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		fatty acid catabolic process (GO:0009062)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|organelle membrane (GO:0031090)	acylglycerol lipase activity (GO:0047372)|carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|fatty acid amide hydrolase activity (GO:0017064)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CATGAGGCGGGCCGTGCTGGA	0.612																																					p.A345S													FAAH,NS,carcinoma,-1,2	FAAH	-1	2	0			c.G1033T												179.0	188.0	185.0					1																	46874212		2203	4300	6503	SO:0001583	missense	2166	exon8			AGGCGGGCCGTGC	U82535	CCDS535.1	1p35-p34	2008-02-05			ENSG00000117480	ENSG00000117480			3553	protein-coding gene	gene with protein product		602935				9122178	Standard	NM_001441		Approved	FAAH-1	uc001cpu.2	O00519	OTTHUMG00000007811	ENST00000243167.8:c.1033G>T	1.37:g.46874212G>T	ENSP00000243167:p.Ala345Ser		Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	115	0.04	5	NM_001441	24	0.00	0	D3DQ19|Q52M86|Q5TDF8	Missense_Mutation	SNP	ENST00000243167.8	37	CCDS535.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717337	0.89205	.	.	ENSG00000117480	ENST00000243167;ENST00000396325	T	0.69561	-0.41	5.4	5.4	0.78164	Amidase signature domain (2);	0.122395	0.56097	D	0.000038	D	0.87489	0.6190	H	0.94771	3.58	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.90645	0.4578	10	0.72032	D	0.01	-14.7442	19.1897	0.93660	0.0:0.0:1.0:0.0	.	345	O00519	FAAH1_HUMAN	S	345;52	ENSP00000243167:A345S	ENSP00000243167:A345S	A	+	1	0	FAAH	46646799	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	5.276000	0.65580	2.548000	0.85928	0.655000	0.94253	GCC			0.612	FAAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021443.1		NM_001441	
RCSD1	92241	hgsc.bcm.edu	37	1	167653179	167653179	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:167653179T>C	ENST00000367854.3	+	2	380	c.49T>C	c.(49-51)Tcc>Ccc	p.S17P	RCSD1_ENST00000537350.1_Missense_Mutation_p.S17P	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	17					cellular hyperosmotic response (GO:0071474)|skeletal muscle contraction (GO:0003009)	actin filament (GO:0005884)	actin filament binding (GO:0051015)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CAACTCGGCGTCCCCCTCGGT	0.597																																					p.S17P													.	.			0			c.T49C												129.0	143.0	138.0					1																	167653179		2203	4300	6503	SO:0001583	missense	92241	exon2			TCGGCGTCCCCCT	BC072399	CCDS1263.1	1q24.2	2008-02-05			ENSG00000198771	ENSG00000198771			28310	protein-coding gene	gene with protein product		610579				12477932	Standard	NM_052862		Approved	MK2S4, MGC21854	uc001gem.3	Q6JBY9	OTTHUMG00000035318	ENST00000367854.3:c.49T>C	1.37:g.167653179T>C	ENSP00000356828:p.Ser17Pro		Somatic	83	0	0		WXS	Illumina HiSeq	.	102	0.06	6	NM_052862	19	0.00	0	B1AK48|Q4G0E7|Q6IN93|Q8IZM2|Q96DX0|Q9NST4	Missense_Mutation	SNP	ENST00000367854.3	37	CCDS1263.1	.	.	.	.	.	.	.	.	.	.	T	3.612	-0.079347	0.07141	.	.	ENSG00000198771	ENST00000367854;ENST00000361496;ENST00000537350	T;T	0.52754	0.74;0.65	5.15	-5.04	0.02964	.	1.201850	0.05836	N	0.618404	T	0.10078	0.0247	N	0.22421	0.69	0.26531	N	0.974255	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.14952	-1.0454	9	0.26408	T	0.33	0.136	5.0963	0.14735	0.2187:0.3557:0.0:0.4256	.	17;17	B7ZKW8;Q6JBY9	.;CPZIP_HUMAN	P	17	ENSP00000356828:S17P;ENSP00000439409:S17P	ENSP00000355291:S17P	S	+	1	0	RCSD1	165919803	0.000000	0.05858	0.002000	0.10522	0.045000	0.14185	-1.787000	0.01764	-1.274000	0.02421	-0.250000	0.11733	TCC			0.597	RCSD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000085451.1		NM_052862	
TPR	7175	hgsc.bcm.edu	37	1	186287470	186287471	+	Intron	DNP	AC	AC	CA	rs181863318|rs370868634	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:186287470_186287471AC>CA	ENST00000367478.4	-	48	7118					NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		aaaaaaaaaaacaaaaaaaaac	0.416			T	NTRK1	papillary thyroid																																.				Dom	yes		1	1q25	7175	translocated promoter region		E	.	.			0			.																																									SO:0001627	intron_variant	100302192	.			AAAAAAACAAAAA	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.6822_6822delinsCA	1.37:g.186287470_186287471delinsCA			Somatic	38	0	0		WXS	Illumina HiSeq	.	64	0.16	10	.	3	0.00	0	Q15655|Q5SWY0|Q99968	RNA	DNP	ENST00000367478.4	37	CCDS41446.1																																																																																					0.416	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000086353.2		NM_003292	
KIF21B	23046	mdanderson.org	37	1	200974466	200974466	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:200974466G>T	ENST00000422435.2	-	5	1018	c.702C>A	c.(700-702)tgC>tgA	p.C234*	KIF21B_ENST00000360529.5_Nonsense_Mutation_p.C234*|KIF21B_ENST00000332129.2_Nonsense_Mutation_p.C234*|KIF21B_ENST00000461742.2_Nonsense_Mutation_p.C234*	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	234	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGCGCATCTGGCACAGGTGGA	0.657																																					p.C234X													.	.			0			c.C702A												87.0	77.0	81.0					1																	200974466		2203	4300	6503	SO:0001587	stop_gained	23046	exon5			CATCTGGCACAGG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.702C>A	1.37:g.200974466G>T	ENSP00000411831:p.Cys234*		Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_017596	3	0.00	0	B2RP62|B7ZMI0|Q5T4J3	Nonsense_Mutation	SNP	ENST00000422435.2	37	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	G	41	8.592357	0.98877	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	.	.	.	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	13.6131	0.62092	0.0:0.0:0.8448:0.1551	.	.	.	.	X	234	.	ENSP00000328494:C234X	C	-	3	2	KIF21B	199241089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.527000	0.53517	2.403000	0.81681	0.655000	0.94253	TGC			0.657	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000382635.1		XM_371332	
OBSCN	84033	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	228557931	228557931	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:228557931T>A	ENST00000422127.1	+	92	20202	c.20158T>A	c.(20158-20160)Tgg>Agg	p.W6720R	OBSCN_ENST00000570156.2_Missense_Mutation_p.W7677R|OBSCN_ENST00000366707.4_Missense_Mutation_p.W4354R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6720	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCCACCCCTGGTTCCTGGT	0.677																																					p.W7677R													.	OBSCN	2142		0			c.T23029A												30.0	33.0	32.0					1																	228557931		1953	4135	6088	SO:0001583	missense	84033	exon103			CACCCCTGGTTCC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20158T>A	1.37:g.228557931T>A	ENSP00000409493:p.Trp6720Arg		Somatic	181	0	0		WXS	Illumina HiSeq	Phase_I	190	0.04	7	NM_001271223	5	0.00	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.70|14.70	2.613313|2.613313	0.46631|0.46631	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000441106|ENST00000422127;ENST00000366707	.|T;T	.|0.69435	.|-0.4;-0.4	4.41|4.41	4.41|4.41	0.53225|0.53225	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|.	.|.	.|.	.|.	D|D	0.86772|0.86772	0.6013|0.6013	H|H	0.96970|0.96970	3.915|3.915	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.90657|0.90657	0.4587|0.4587	5|9	.|0.87932	.|D	.|0	.|.	12.7343|12.7343	0.57214|0.57214	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|6720	.|Q5VST9	.|OBSCN_HUMAN	Q|R	1336|6720;4354	.|ENSP00000409493:W6720R;ENSP00000355668:W4354R	.|ENSP00000355668:W4354R	L|W	+|+	2|1	0|0	OBSCN|OBSCN	226624554|226624554	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.428000|0.428000	0.31595|0.31595	3.644000|3.644000	0.54381|0.54381	1.848000|1.848000	0.53677|0.53677	0.374000|0.374000	0.22700|0.22700	CTG|TGG			0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843	
GNPAT	8443	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	231403537	231403537	+	Silent	SNP	A	A	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr1:231403537A>T	ENST00000366647.4	+	9	1336	c.1167A>T	c.(1165-1167)atA>atT	p.I389I	GNPAT_ENST00000366646.3_Silent_p.I328I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	389					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GGACCCTAATAGTTGCTGTTC	0.458																																					p.I389I													.	.			0			c.A1167T												113.0	105.0	108.0					1																	231403537		2203	4300	6503	SO:0001819	synonymous_variant	8443	exon9			CCTAATAGTTGCT	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1167A>T	1.37:g.231403537A>T			Somatic	149	0	0		WXS	Illumina HiSeq	.	138	0.25	35	NM_014236	135	0.31	42	B4DNM9|Q5TBH7|Q9BWC2	Silent	SNP	ENST00000366647.4	37	CCDS1592.1																																																																																					0.458	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000092871.1			
HSD17B7P2	158160	broad.mit.edu	37	10	38647315	38647315	+	RNA	SNP	T	T	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:38647315T>C	ENST00000494540.1	+	0	186					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		CGTGCAGGAATATGAGCAAGG	0.557																																					.													.	.			0			.																																											0	.			CAGGAATATGAGC			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38647315T>C			Somatic	146	0	0		WXS	Illumina HiSeq	Phase_I	148	0.02	3	.	13	0.00	0		RNA	SNP	ENST00000494540.1	37																																																																																						0.557	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000047631.2		NR_003086	
CCAR1	55749	broad.mit.edu	37	10	70516152	70516152	+	Missense_Mutation	SNP	G	G	A	rs142459122		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:70516152G>A	ENST00000265872.6	+	14	1867	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	CCAR1_ENST00000535016.1_Missense_Mutation_p.R568H|CCAR1_ENST00000543719.1_Missense_Mutation_p.R568H|MIR1254-1_ENST00000408257.1_RNA|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	583					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CTTCCCACCCGCTCAGAGTGG	0.557																																					p.R583H													.	CCAR1	118		0			c.G1748A							G	HIS/ARG	0,4406		0,0,2203	115.0	112.0	113.0		1748	5.3	1.0	10	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCAR1	NM_018237.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	583/1151	70516152	1,13005	2203	4300	6503	SO:0001583	missense	55749	exon14			CCACCCGCTCAGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.1748G>A	10.37:g.70516152G>A	ENSP00000265872:p.Arg583His		Somatic	157	0	0		WXS	Illumina HiSeq	Phase_I	155	0.03	4	NM_018237	98	0.00	0	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Missense_Mutation	SNP	ENST00000265872.6	37	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985880	0.53934	0.0	1.16E-4	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.85130	0.984;0.997;0.902	T	0.60244	-0.7301	10	0.33141	T	0.24	-3.7362	18.9513	0.92642	0.0:0.0:1.0:0.0	.	568;583;557	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	H	583;568;568;568;557;388	ENSP00000265872:R583H;ENSP00000441820:R568H;ENSP00000445254:R568H;ENSP00000439252:R568H;ENSP00000438610:R557H;ENSP00000439642:R388H	ENSP00000265872:R583H	R	+	2	0	CCAR1	70186158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.773000	0.98989	2.488000	0.83962	0.585000	0.79938	CGC			0.557	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048356.2		NM_018237	
ZNF503	84858	broad.mit.edu	37	10	77159836	77159836	+	Silent	SNP	A	A	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:77159836A>C	ENST00000372524.4	-	2	1098	c.612T>G	c.(610-612)ggT>ggG	p.G204G	ZNF503_ENST00000535216.1_Silent_p.G204G|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503-AS2_ENST00000466942.2_RNA|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	204	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					CCGACGAAACACCCccgccgc	0.697																																					p.G204G													.	ZNF503	25		0			c.T612G												3.0	3.0	3.0					10																	77159836		1706	3384	5090	SO:0001819	synonymous_variant	84858	exon2			CGAAACACCCCCG	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.612T>G	10.37:g.77159836A>C			Somatic	60	0.2333333333	14		WXS	Illumina HiSeq	Phase_I	50	0.22	11	NM_032772	6	0.00	0	Q8NAC5|Q96E25|Q96IJ0	Silent	SNP	ENST00000372524.4	37	CCDS7350.1																																																																																					0.697	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048826.1		NM_032772	
PIPSL	266971	broad.mit.edu	37	10	95718362	95718365	+	RNA	DEL	TTTC	TTTC	-			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	TTTC	TTTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:95718362_95718365delTTTC	ENST00000480546.1	-	0	2932_2935					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										tttcttttcttttctttctttctt	0.333																																					.													.	.			0			.																																											0	.			TTTTCTTTTCTTT	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718370_95718373delTTTC			Somatic	22	0	0		WXS	Illumina HiSeq	Phase_I	18	0.61	11	.	1	0.00	0	Q6NUK8	RNA	DEL	ENST00000480546.1	37																																																																																						0.333	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene		OTTHUMT00000351483.1		NR_002319	
CWF19L1	55280	broad.mit.edu	37	10	101997853	101997853	+	Silent	SNP	G	G	T	rs372238581		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:101997853G>T	ENST00000354105.4	-	11	1266	c.1180C>A	c.(1180-1182)Cgg>Agg	p.R394R	SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Silent_p.R149R	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	394							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TTAAAGAACCGTCTCAGAGTG	0.468																																					p.R394R													.	CWF19L1	39		0			c.C1180A												206.0	187.0	193.0					10																	101997853		2203	4300	6503	SO:0001819	synonymous_variant	55280	exon11			AGAACCGTCTCAG	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1180C>A	10.37:g.101997853G>T			Somatic	206	0	0		WXS	Illumina HiSeq	Phase_I	226	0.02	5	NM_018294	75	0.00	0	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	37	CCDS7489.1																																																																																					0.468	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_018294	
PKD2L1	9033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	102052770	102052770	+	Silent	SNP	C	C	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:102052770C>T	ENST00000318222.3	-	11	2197	c.1815G>A	c.(1813-1815)gtG>gtA	p.V605V	PKD2L1_ENST00000353274.3_Silent_p.V605V|PKD2L1_ENST00000338519.3_Silent_p.V530V	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	605					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGACCTTCTGCACATCCGAAA	0.512																																					p.V605V													.	.			0			c.G1815A												150.0	124.0	133.0					10																	102052770		2203	4300	6503	SO:0001819	synonymous_variant	9033	exon11			CTTCTGCACATCC	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1815G>A	10.37:g.102052770C>T			Somatic	227	0	0		WXS	Illumina HiSeq	.	223	0.27	61	NM_016112	0		0	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	CCDS7492.1																																																																																					0.512	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049863.2		NM_016112	
BAG3	9531	broad.mit.edu	37	10	121432017	121432017	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr10:121432017A>G	ENST00000369085.3	+	3	1064	c.758A>G	c.(757-759)gAt>gGt	p.D253G		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	253					brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ATCCAGGGGGATGACTGGGAG	0.677																																					p.D253G													.	BAG3	42		0			c.A758G												60.0	64.0	63.0					10																	121432017		2203	4300	6503	SO:0001583	missense	9531	exon3			AGGGGGATGACTG	AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.758A>G	10.37:g.121432017A>G	ENSP00000358081:p.Asp253Gly		Somatic	114	0.0087719298	1		WXS	Illumina HiSeq	Phase_I	165	0.02	4	NM_004281	77	0.00	0	A8K5L8|Q3B763|Q9NT20|Q9P120	Missense_Mutation	SNP	ENST00000369085.3	37	CCDS7615.1	.	.	.	.	.	.	.	.	.	.	A	28.6	4.934791	0.92458	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	T;D	0.81499	-1.22;-1.5	6.04	6.04	0.98038	.	0.239745	0.42053	D	0.000777	D	0.84106	0.5399	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.66084	0.941;0.941	D	0.84197	0.0448	10	0.44086	T	0.13	-18.6371	16.5885	0.84745	1.0:0.0:0.0:0.0	.	253;253	O95817;Q53GY1	BAG3_HUMAN;.	G	253;195	ENSP00000358081:D253G;ENSP00000410036:D195G	ENSP00000358081:D253G	D	+	2	0	BAG3	121422007	1.000000	0.71417	0.988000	0.46212	0.990000	0.78478	6.845000	0.75394	2.317000	0.78254	0.460000	0.39030	GAT			0.677	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050662.1		NM_004281	
MUC6	4588	bcgsc.ca	37	11	1016801	1016801	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:1016801G>C	ENST00000421673.2	-	31	6050	c.6000C>G	c.(5998-6000)caC>caG	p.H2000Q		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2000	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTCTGAGGGTGTGATGGGG	0.542																																					p.H2000Q													.	MUC6	408		0			c.C6000G												1371.0	1357.0	1362.0					11																	1016801		2203	4297	6500	SO:0001583	missense	4588	exon31			CTGAGGGTGTGAT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6000C>G	11.37:g.1016801G>C	ENSP00000406861:p.His2000Gln		Somatic	453	0.0198675497	9		WXS	Illumina HiSeq	Phase_1	393	0.05	19	NM_005961	11	0.00	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	6.842	0.524518	0.13066	.	.	ENSG00000184956	ENST00000421673	T	0.17528	2.27	2.76	-5.51	0.02568	.	.	.	.	.	T	0.10337	0.0253	L	0.50333	1.59	0.09310	N	1	B	0.27625	0.183	B	0.21708	0.036	T	0.29610	-1.0006	9	0.27082	T	0.32	.	1.062	0.01603	0.2629:0.2888:0.3017:0.1467	.	2000	Q6W4X9	MUC6_HUMAN	Q	2000	ENSP00000406861:H2000Q	ENSP00000406861:H2000Q	H	-	3	2	MUC6	1006801	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.904000	0.04080	-1.588000	0.01627	0.306000	0.20318	CAC			0.542	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540	
MUC6	4588	bcgsc.ca	37	11	1017824	1017824	+	Silent	SNP	G	G	C	rs201767599		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:1017824G>C	ENST00000421673.2	-	31	5027	c.4977C>G	c.(4975-4977)ctC>ctG	p.L1659L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1659	Approximate repeats.|Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGTGGCCTTGAGCGTTGTCG	0.562																																					p.L1659L													.	MUC6	408		0			c.C4977G												672.0	647.0	656.0					11																	1017824		2201	4297	6498	SO:0001819	synonymous_variant	4588	exon31			GGCCTTGAGCGTT	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4977C>G	11.37:g.1017824G>C			Somatic	317	0.0157728707	5		WXS	Illumina HiSeq	Phase_1	311	0.06	20	NM_005961	3	0.00	0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																					0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540	
MUC2	4583	mdanderson.org	37	11	1093293	1093293	+	Silent	SNP	C	C	G	rs200837746		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:1093293C>G	ENST00000441003.2	+	30	5139	c.5112C>G	c.(5110-5112)acC>acG	p.T1704T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.T1671T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	tcaccaccaccactacggtga	0.637																																					p.T1704T													.	.			0			c.C5112G												107.0	155.0	138.0					11																	1093293		1879	3458	5337	SO:0001819	synonymous_variant	4583	exon30			CACCACCACTACG	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5112C>G	11.37:g.1093293C>G			Somatic	31	0	0		WXS	Illumina HiSeq	Phase_I	26	0.12	3	NM_002457	9	0.11	1	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
CTSD	1509	mdanderson.org	37	11	1775285	1775285	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:1775285G>A	ENST00000236671.2	-	7	1043	c.911C>T	c.(910-912)cCg>cTg	p.P304L	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.R175W	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	304					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic vacuole assembly (GO:0000045)|cell death (GO:0008219)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(1)|large_intestine(4)|lung(8)	13		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTCATCCACCGGGCCCACCAT	0.711																																					p.P304L													.	.			0			c.C911T												49.0	36.0	41.0					11																	1775285		2201	4298	6499	SO:0001583	missense	1509	exon7			TCCACCGGGCCCA	M11233	CCDS7725.1	11p15.5	2009-06-26	2006-12-05		ENSG00000117984	ENSG00000117984	3.4.23.5	"""Cathepsins"""	2529	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 10"""	116840	"""cathepsin D (lysosomal aspartyl protease)"""	CPSD		3927292	Standard	NM_001909		Approved	CLN10	uc001luc.2	P07339	OTTHUMG00000044760	ENST00000236671.2:c.911C>T	11.37:g.1775285G>A	ENSP00000236671:p.Pro304Leu		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	43	0.09	4	NM_001909	549	0.00	0	Q6IB57	Missense_Mutation	SNP	ENST00000236671.2	37	CCDS7725.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	19.25|19.25	3.790985|3.790985	0.70452|0.70452	.|.	.|.	ENSG00000117984|ENSG00000250644	ENST00000236671;ENST00000429746;ENST00000438213|ENST00000427721	T;T;T|.	0.69806|.	-0.43;0.1;0.1|.	4.25|4.25	4.25|4.25	0.50352|0.50352	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);|.	0.110733|.	0.64402|.	D|.	0.000006|.	D|D	0.91270|0.91270	0.7248|0.7248	H|H	0.99498|0.99498	4.595|4.595	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.95288|0.95288	0.8392|0.8392	10|5	0.87932|.	D|.	0|.	.|.	17.2119|17.2119	0.86932|0.86932	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	304|.	P07339|.	CATD_HUMAN|.	L|W	304;81;289|175	ENSP00000236671:P304L;ENSP00000402586:P81L;ENSP00000415036:P289L|.	ENSP00000236671:P304L|.	P|R	-|-	2|1	0|2	CTSD|RP11-295K3.1	1731861|1731861	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.121000|0.121000	0.20230|0.20230	7.271000|7.271000	0.78506|0.78506	2.378000|2.378000	0.81104|0.81104	0.462000|0.462000	0.41574|0.41574	CCG|CGG			0.711	CTSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000104272.5		NM_001909	
PACS1	55690	broad.mit.edu;mdanderson.org	37	11	66001320	66001320	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:66001320C>G	ENST00000320580.4	+	16	1936	c.1903C>G	c.(1903-1905)Ctg>Gtg	p.L635V	PACS1_ENST00000529757.1_Missense_Mutation_p.L171V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	635					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CCAGAGCTACCTGAGCTCCAT	0.592																																					p.L635V													.	PACS1	71		0			c.C1903G												95.0	76.0	82.0					11																	66001320		2200	4295	6495	SO:0001583	missense	55690	exon16			AGCTACCTGAGCT	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.1903C>G	11.37:g.66001320C>G	ENSP00000316454:p.Leu635Val		Somatic	117	0	0		WXS	Illumina HiSeq	Phase_I	75	0.05	4	NM_018026	48	0.04	2	Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.384238	0.82792	.	.	ENSG00000175115	ENST00000320580;ENST00000529757;ENST00000528935	T;T;T	0.50548	0.74;0.74;0.74	4.9	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.64338	0.2589	L	0.58583	1.82	0.80722	D	1	D	0.69078	0.997	D	0.85130	0.997	T	0.59177	-0.7503	10	0.27082	T	0.32	-18.3349	17.021	0.86433	0.0:1.0:0.0:0.0	.	635	Q6VY07	PACS1_HUMAN	V	635;171;16	ENSP00000316454:L635V;ENSP00000432858:L171V;ENSP00000437052:L16V	ENSP00000316454:L635V	L	+	1	2	PACS1	65757896	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.935000	0.70145	2.551000	0.86045	0.655000	0.94253	CTG			0.592	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391690.2		NM_018026	
TAF1D	79101	broad.mit.edu	37	11	93469897	93469897	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:93469897G>T	ENST00000448108.2	-	5	1306	c.656C>A	c.(655-657)aCa>aAa	p.T219K	TAF1D_ENST00000546088.1_5'Flank|SNORA40_ENST00000388090.1_RNA|MIR1304_ENST00000408243.1_RNA	NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	219					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						TTCAAGATGTGTTGCATCCTC	0.348																																					p.T219K													.	TAF1D	18		0			c.C656A												123.0	123.0	123.0					11																	93469897		2200	4298	6498	SO:0001583	missense	79101	exon5			AGATGTGTTGCAT		CCDS8293.1	11q21	2012-05-30	2008-09-30	2008-09-30	ENSG00000166012	ENSG00000166012			28759	protein-coding gene	gene with protein product		612823	"""Josephin domain containing 3"""	JOSD3		15520167, 17318177	Standard	NM_024116		Approved	MGC5306, TAF(I)41	uc001pec.3	Q9H5J8	OTTHUMG00000167451	ENST00000448108.2:c.656C>A	11.37:g.93469897G>T	ENSP00000410409:p.Thr219Lys		Somatic	377	0	0		WXS	Illumina HiSeq	Phase_I	317	0.02	6	NM_024116	98	0.00	0	Q6I9Y6	Missense_Mutation	SNP	ENST00000448108.2	37	CCDS8293.1	.	.	.	.	.	.	.	.	.	.	G	6.861	0.528265	0.13127	.	.	ENSG00000166012	ENST00000448108	.	.	.	4.32	0.08	0.14418	.	1.817120	0.03170	N	0.170638	T	0.29783	0.0744	L	0.43152	1.355	0.09310	N	1	P	0.47910	0.902	B	0.43301	0.415	T	0.16600	-1.0397	9	0.12430	T	0.62	-29.7996	4.7452	0.13033	0.1891:0.0:0.5175:0.2934	.	219	Q9H5J8	TAF1D_HUMAN	K	219	.	ENSP00000314971:T219K	T	-	2	0	TAF1D	93109545	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	0.227000	0.17795	-0.178000	0.10672	-1.491000	0.00971	ACA			0.348	TAF1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394662.2		NM_024116	
SCN4B	6330	broad.mit.edu	37	11	118015783	118015783	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr11:118015783C>T	ENST00000324727.4	-	2	369	c.223G>A	c.(223-225)Gca>Aca	p.A75T	SCN4B_ENST00000529878.1_Intron|SCN4B_ENST00000423160.2_5'Flank	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	75	Ig-like C2-type.				AV node cell to bundle of His cell communication (GO:0086067)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|voltage-gated sodium channel complex (GO:0001518)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)	Valproic Acid(DB00313)|Zonisamide(DB00909)	ATCTTGAATGCGTCACTGCTG	0.567											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A75T													.	SCN4B	18		0			c.G223A												263.0	245.0	251.0					11																	118015783		2200	4296	6496	SO:0001583	missense	6330	exon2			TGAATGCGTCACT	AY149967	CCDS8389.1, CCDS44744.1	11q23.3	2014-09-17	2012-02-28		ENSG00000177098	ENSG00000177098		"""Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	10592	protein-coding gene	gene with protein product		608256	"""sodium channel, voltage-gated, type IV, beta"""				Standard	NM_174934		Approved	LQT10	uc001pse.3	Q8IWT1	OTTHUMG00000166994	ENST00000324727.4:c.223G>A	11.37:g.118015783C>T	ENSP00000322460:p.Ala75Thr		Somatic	164	0	0	1485	WXS	Illumina HiSeq	Phase_I	129	0.03	4	NM_174934	5	0.00	0	E9PPT5|Q6PIG5	Missense_Mutation	SNP	ENST00000324727.4	37	CCDS8389.1	.	.	.	.	.	.	.	.	.	.	C	2.220	-0.378623	0.05000	.	.	ENSG00000177098	ENST00000324727	D	0.94330	-3.4	5.23	-1.92	0.07618	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.499150	0.20752	N	0.086335	T	0.69115	0.3075	N	0.00583	-1.355	0.09310	N	0.999999	B	0.06786	0.001	B	0.01281	0.0	T	0.68788	-0.5316	10	0.11794	T	0.64	-9.0824	3.2558	0.06831	0.3544:0.3725:0.0:0.2731	.	75	Q8IWT1	SCN4B_HUMAN	T	75	ENSP00000322460:A75T	ENSP00000322460:A75T	A	-	1	0	SCN4B	117520993	0.008000	0.16893	0.000000	0.03702	0.021000	0.10359	0.508000	0.22692	-0.268000	0.09312	-0.484000	0.04775	GCA			0.567	SCN4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392326.1			
DCP1B	196513	hgsc.bcm.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0				p.Q252H													DCP1B,bladder,carcinoma,0,13	DCP1B	0	13	8	Substitution - Missense(8)	endometrium(5)|lung(2)|large_intestine(1)	c.G756C												35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513	exon7			CTGCTGCTGGTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His		Somatic	20	0.05	1		WXS	Illumina HiSeq	.	87	0.06	5	NM_152640	142	0.01	1	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG			0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398244.1		NM_152640	
CD69	969	broad.mit.edu	37	12	9907234	9907234	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:9907234T>C	ENST00000228434.3	-	4	520	c.440A>G	c.(439-441)aAg>aGg	p.K147R	CD69_ENST00000536709.1_Missense_Mutation_p.K147R	NM_001781.2	NP_001772.1	Q07108	CD69_HUMAN	CD69 molecule	147	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular response to drug (GO:0035690)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACCAGGTTCCTTTTTCAGTCC	0.433																																					p.K147R													.	CD69	23		0			c.A440G												220.0	222.0	221.0					12																	9907234		2203	4300	6503	SO:0001583	missense	969	exon4			GGTTCCTTTTTCA	Z22576	CCDS8604.1	12p13	2011-08-30	2006-03-28		ENSG00000110848	ENSG00000110848		"""C-type lectin domain containing"", ""CD molecules"""	1694	protein-coding gene	gene with protein product		107273	"""CD69 antigen (p60, early T-cell activation antigen)"""			1612643	Standard	NM_001781		Approved	CLEC2C	uc001qwk.3	Q07108	OTTHUMG00000168481	ENST00000228434.3:c.440A>G	12.37:g.9907234T>C	ENSP00000228434:p.Lys147Arg		Somatic	236	0	0		WXS	Illumina HiSeq	Phase_I	610	0.01	4	NM_001781	3	0.00	0		Missense_Mutation	SNP	ENST00000228434.3	37	CCDS8604.1	.	.	.	.	.	.	.	.	.	.	T	4.032	0.003466	0.07866	.	.	ENSG00000110848	ENST00000228434;ENST00000536709	T;T	0.19250	2.16;2.16	5.4	5.4	0.78164	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.687564	0.14626	N	0.308105	T	0.09818	0.0241	N	0.02973	-0.45	0.27725	N	0.945008	B	0.31611	0.331	B	0.32762	0.152	T	0.23119	-1.0197	9	.	.	.	-4.831	11.73	0.51730	0.0:0.0:0.0:1.0	.	147	Q07108	CD69_HUMAN	R	147	ENSP00000228434:K147R;ENSP00000442597:K147R	.	K	-	2	0	CD69	9798501	0.055000	0.20627	0.711000	0.30485	0.605000	0.37080	1.222000	0.32515	2.266000	0.75297	0.533000	0.62120	AAG			0.433	CD69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399876.1			
C12orf36	283422	broad.mit.edu	37	12	13526327	13526327	+	Silent	SNP	C	C	G	rs146660868		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:13526327C>G	ENST00000318426.2	-	3	445	c.228G>C	c.(226-228)gcG>gcC	p.A76A	C12orf36_ENST00000527705.2_Silent_p.A76A|C12orf36_ENST00000531049.1_5'Flank					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		TGTCTACGAGCGCTCTGACTC	0.473																																					.													.	C12orf36	17		0			.												86.0	87.0	86.0					12																	13526327		2203	4300	6503	SO:0001819	synonymous_variant	283422	.			TACGAGCGCTCTG	AK091129		12p13.1	2012-08-14			ENSG00000180861	ENSG00000180861			26598	protein-coding gene	gene with protein product							Standard	NR_036555		Approved	FLJ33810	uc001rbs.2	Q495D7	OTTHUMG00000167562	ENST00000318426.2:c.228G>C	12.37:g.13526327C>G			Somatic	180	0	0		WXS	Illumina HiSeq	Phase_I	556	0.01	8	.	0		0		Silent	SNP	ENST00000318426.2	37																																																																																						0.473	C12orf36-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000395025.2		NM_182558	
GYS2	2998	broad.mit.edu	37	12	21693436	21693436	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:21693436C>T	ENST00000261195.2	-	14	1971	c.1717G>A	c.(1717-1719)Gga>Aga	p.G573R		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	573					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGCAAAATCCATAGAGAAAC	0.443																																					p.G573R	Colon(149;9 1820 3690 10544 50424)												.	GYS2	110		0			c.G1717A												135.0	139.0	137.0					12																	21693436		2203	4300	6503	SO:0001583	missense	2998	exon14			AAAATCCATAGAG		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.1717G>A	12.37:g.21693436C>T	ENSP00000261195:p.Gly573Arg		Somatic	127	0	0		WXS	Illumina HiSeq	Phase_I	321	0.02	7	NM_021957	2	0.00	0	A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053477	0.55218	.	.	ENSG00000111713	ENST00000261195	T	0.63255	-0.03	5.1	4.21	0.49690	.	0.581072	0.18773	N	0.131549	T	0.52597	0.1744	N	0.11427	0.14	0.35571	D	0.80547	B	0.30727	0.292	P	0.45794	0.493	T	0.61869	-0.6974	10	0.40728	T	0.16	-8.191	9.8795	0.41225	0.0:0.8442:0.0:0.1558	.	573	P54840	GYS2_HUMAN	R	573	ENSP00000261195:G573R	ENSP00000261195:G573R	G	-	1	0	GYS2	21584703	0.638000	0.27225	1.000000	0.80357	0.986000	0.74619	1.548000	0.36201	1.364000	0.46038	0.650000	0.86243	GGA			0.443	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000402396.1		NM_021957	
YARS2	51067	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	32908276	32908276	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:32908276T>C	ENST00000324868.8	-	1	560	c.533A>G	c.(532-534)cAg>cGg	p.Q178R		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	178					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GTGCTGCTTCTGGTACCAGGC	0.657											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q178R													.	.			0			c.A533G												49.0	51.0	50.0					12																	32908276		2203	4300	6503	SO:0001583	missense	51067	exon1			TGCTTCTGGTACC	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.533A>G	12.37:g.32908276T>C	ENSP00000320658:p.Gln178Arg		Somatic	172	0	0	836	WXS	Illumina HiSeq	.	396	0.14	54	NM_001040436	88	0.08	7	D3DUW8|Q9H817	Missense_Mutation	SNP	ENST00000324868.8	37	CCDS31770.1	.	.	.	.	.	.	.	.	.	.	T	10.24	1.295195	0.23564	.	.	ENSG00000139131	ENST00000324868	T	0.52526	0.66	4.91	2.45	0.29901	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.671910	0.15442	N	0.262162	T	0.22205	0.0535	N	0.04116	-0.275	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13098	-1.0522	10	0.62326	D	0.03	-13.1742	4.5109	0.11910	0.0:0.2808:0.2817:0.4375	.	178	Q9Y2Z4	SYYM_HUMAN	R	178	ENSP00000320658:Q178R	ENSP00000320658:Q178R	Q	-	2	0	YARS2	32799543	0.071000	0.21146	0.522000	0.27862	0.989000	0.77384	0.617000	0.24359	0.879000	0.35944	0.524000	0.50904	CAG			0.657	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000404153.1		NM_015936	
KRT3	3850	mdanderson.org	37	12	53189775	53189775	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr12:53189775C>A	ENST00000417996.2	-	1	126	c.52G>T	c.(52-54)Ggc>Tgc	p.G18C	KRT3_ENST00000309505.3_Missense_Mutation_p.G18C	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	18	Gly-rich.|Head.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGAGCGGCCGGAGAAACCC	0.622																																					p.G18C													.	.			0			c.G52T												26.0	33.0	31.0					12																	53189775		2202	4299	6501	SO:0001583	missense	3850	exon1			AGCGGCCGGAGAA		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.52G>T	12.37:g.53189775C>A	ENSP00000413479:p.Gly18Cys		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_057088	0		0	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.670788	0.29693	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.82893	-1.66;-1.66	5.17	3.3	0.37823	.	0.000000	0.47852	D	0.000216	T	0.75436	0.3849	L	0.49455	1.56	0.28078	N	0.932313	B	0.33238	0.403	B	0.32805	0.153	T	0.69446	-0.5143	10	0.62326	D	0.03	.	6.36	0.21422	0.392:0.5193:0.0:0.0886	.	18	P12035	K2C3_HUMAN	C	18	ENSP00000413479:G18C;ENSP00000312206:G18C	ENSP00000312206:G18C	G	-	1	0	KRT3	51476042	0.001000	0.12720	0.323000	0.25347	0.947000	0.59692	0.061000	0.14366	0.651000	0.30788	0.561000	0.74099	GGC			0.622	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405930.1		NM_057088	
N4BP2L1	90634	mdanderson.org	37	13	32981884	32981884	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr13:32981884C>T	ENST00000380133.2	-	2	255	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	N4BP2L1_ENST00000380130.2_Missense_Mutation_p.A69T|N4BP2L1_ENST00000530622.2_5'UTR|N4BP2L1_ENST00000380139.4_Missense_Mutation_p.A69T|N4BP2L1_ENST00000459716.1_5'UTR			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	69										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AAAATCAGGGCCCTGGGAAAG	0.408																																					p.A69T													.	.			0			c.G205A												115.0	112.0	113.0					13																	32981884		1839	4088	5927	SO:0001583	missense	90634	exon2			TCAGGGCCCTGGG	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.205G>A	13.37:g.32981884C>T	ENSP00000369476:p.Ala69Thr		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_052818	10	0.00	0	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380133.2	37	CCDS9345.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.97|18.97	3.734943|3.734943	0.69189|0.69189	.|.	.|.	ENSG00000139597|ENSG00000139597	ENST00000380130;ENST00000380139;ENST00000380133|ENST00000343281	T;T;T|.	0.46451|.	0.87;0.87;0.87|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Zeta toxin domain (1);|.	0.083310|.	0.50627|.	D|.	0.000118|.	T|T	0.58821|0.58821	0.2149|0.2149	L|L	0.28740|0.28740	0.885|0.885	0.80722|0.80722	D|D	1|1	D;B;D|.	0.89917|.	1.0;0.34;1.0|.	D;B;D|.	0.91635|.	0.999;0.113;0.986|.	T|T	0.52968|0.52968	-0.8504|-0.8504	10|5	0.54805|.	T|.	0.06|.	.|.	19.2703|19.2703	0.94006|0.94006	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	46;69;69|.	Q5TBJ9;Q5TBK1-2;Q5TBK1|.	.;.;N42L1_HUMAN|.	T|D	69|46	ENSP00000369473:A69T;ENSP00000369484:A69T;ENSP00000369476:A69T|.	ENSP00000369473:A69T|.	A|G	-|-	1|2	0|0	N4BP2L1|N4BP2L1	31879884|31879884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.076000|6.076000	0.71267|0.71267	2.566000|2.566000	0.86566|0.86566	0.556000|0.556000	0.70494|0.70494	GCC|GGC			0.408	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000044412.2		NM_052818	
DCLK1	9201	mdanderson.org	37	13	36700232	36700232	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr13:36700232G>A	ENST00000360631.3	-	2	254	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	DCLK1_ENST00000379892.4_Missense_Mutation_p.R15W|DCLK1_ENST00000255448.4_Missense_Mutation_p.R15W			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	15					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCCTTATCCCGCTCGTCGAAG	0.597																																					p.R15W													.	.			0			c.C43T												60.0	62.0	61.0					13																	36700232		2203	4300	6503	SO:0001583	missense	9201	exon2			TATCCCGCTCGTC	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.43C>T	13.37:g.36700232G>A	ENSP00000353846:p.Arg15Trp		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_004734	5	0.00	0	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37		.	.	.	.	.	.	.	.	.	.	G	25.8	4.676152	0.88445	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.75704	-0.95;-0.96;0.77	5.67	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.84284	0.5438	M	0.65498	2.005	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.85975	0.1479	10	0.87932	D	0	.	13.8416	0.63441	0.0:0.0:0.7221:0.2779	.	15	O15075-2	.	W	15	ENSP00000255448:R15W;ENSP00000353846:R15W;ENSP00000369222:R15W	ENSP00000255448:R15W	R	-	1	2	DCLK1	35598232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.450000	0.66626	1.395000	0.46643	0.655000	0.94253	CGG			0.597	DCLK1-010	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000044487.1		NM_004734	
CARS2	79587	mdanderson.org	37	13	111299558	111299558	+	Silent	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr13:111299558G>T	ENST00000257347.4	-	11	1146	c.1083C>A	c.(1081-1083)ctC>ctA	p.L361L	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	361					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCTGAGCTTGGAGCATGGCGC	0.637																																					p.L361L													.	.			0			c.C1083A												76.0	57.0	64.0					13																	111299558		2203	4300	6503	SO:0001819	synonymous_variant	79587	exon11			AGCTTGGAGCATG	BC007220	CCDS9514.1	13q34	2011-07-01	2007-02-22		ENSG00000134905	ENSG00000134905	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	25695	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 2, mitochondrial (putative)"""	612800				15779907	Standard	NM_024537		Approved	FLJ12118	uc001vrd.2	Q9HA77	OTTHUMG00000017347	ENST00000257347.4:c.1083C>A	13.37:g.111299558G>T			Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_024537	70	0.00	0	Q8NI84|Q96IV4	Silent	SNP	ENST00000257347.4	37	CCDS9514.1																																																																																					0.637	CARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045772.3		NM_024537	
ACIN1	22985	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	14	23549896	23549896	+	Silent	SNP	C	C	T	rs398102304		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr14:23549896C>T	ENST00000262710.1	-	6	1149	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000555053.1_Silent_p.E274E|ACIN1_ENST00000605057.1_Silent_p.E216E|ACIN1_ENST00000457657.1_Silent_p.E234E	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	109	0	0		WXS	Illumina HiSeq	.	156	0.05	8	NM_001164814	83	0.01	1	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	
MLH3	27030	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	75508402	75508402	+	Splice_Site	SNP	A	A	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr14:75508402A>G	ENST00000556740.1	-	3	3416	c.3381T>C	c.(3379-3381)gaT>gaC	p.D1127D	MLH3_ENST00000238662.7_Splice_Site_p.D1127D|MLH3_ENST00000380968.2_Splice_Site_p.D73D|MLH3_ENST00000556257.1_Intron|MLH3_ENST00000355774.2_Splice_Site_p.D1127D|MLH3_ENST00000544985.1_Splice_Site_p.D122D|MLH3_ENST00000555671.1_Intron			Q9UHC1	MLH3_HUMAN	mutL homolog 3	1127					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		CATCCACAGTATCTAGGGCAA	0.478								Mismatch excision repair (MMR)																													p.D1127D													.	.			0			c.T3381C												113.0	96.0	102.0					14																	75508402		2203	4300	6503	SO:0001630	splice_region_variant	27030	exon4			CACAGTATCTAGG	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.3380-1T>C	14.37:g.75508402A>G			Somatic	84	0	0		WXS	Illumina HiSeq	.	112	0.22	25	NM_014381	38	0.26	10	P49751|Q56DK9|Q9P292|Q9UHC0	Silent	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	A	8.411	0.844263	0.16963	.	.	ENSG00000119684	ENST00000553713	.	.	.	6.04	4.9	0.64082	.	.	.	.	.	T	0.62490	0.2432	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59925	-0.7362	4	.	.	.	.	10.595	0.45331	0.9281:0.0:0.0719:0.0	.	.	.	.	T	151	.	.	I	-	2	0	MLH3	74578155	0.948000	0.32251	0.906000	0.35671	0.369000	0.29798	2.089000	0.41672	1.120000	0.41904	0.459000	0.35465	ATA			0.478	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000415006.1		NM_014381	Silent
CTD-2184D3.5	0	broad.mit.edu	37	15	52388055	52388056	+	RNA	DEL	AG	AG	-	rs58524153	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr15:52388055_52388056delAG	ENST00000558607.1	-	0	54																											aacattaaacagagttaccatg	0.332														1168	0.233227	0.0802	0.1427	5008	,	,		22986	0.4831		0.0865	False		,,,				2504	0.3978				.													.	.			0			.																																											0	.			TTAAACAGAGTTA																													15.37:g.52388057_52388058delAG			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	17	0.82	14	.	0		0		RNA	DEL	ENST00000558607.1	37																																																																																						0.332	CTD-2184D3.5-001	KNOWN	basic	antisense	antisense		OTTHUMT00000419383.1			
SRCAP	10847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	16	30748508	30748508	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr16:30748508A>T	ENST00000262518.4	+	34	7532	c.7147A>T	c.(7147-7149)Aaa>Taa	p.K2383*	SRCAP_ENST00000344771.4_Nonsense_Mutation_p.K2225*|SRCAP_ENST00000395059.2_Nonsense_Mutation_p.K2321*	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2383					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGGCGCAGTAAAAAGGCCAA	0.637																																					p.K2383X													.	.			0			c.A7147T												41.0	45.0	44.0					16																	30748508		2197	4300	6497	SO:0001587	stop_gained	10847	exon34			CGCAGTAAAAAGG	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7147A>T	16.37:g.30748508A>T	ENSP00000262518:p.Lys2383*		Somatic	104	0	0		WXS	Illumina HiSeq	.	89	0.13	12	NM_006662	78	0.13	10	B0JZA6|O15026|Q7Z744|Q9Y5L9	Nonsense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	A	46	12.225050	0.99648	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	.	.	.	4.8	4.8	0.61643	.	0.000000	0.48767	D	0.000179	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8476	13.5298	0.61615	1.0:0.0:0.0:0.0	.	.	.	.	X	2383;2321;2225	.	ENSP00000262518:K2383X	K	+	1	0	SRCAP	30656009	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	4.458000	0.60095	2.034000	0.60081	0.456000	0.33151	AAA			0.637	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255523.1		NM_006662	
FAM101B	359845	broad.mit.edu	37	17	295717	295717	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:295717A>G	ENST00000329099.4	-	1	13	c.14T>C	c.(13-15)cTc>cCc	p.L5P		NM_182705.2	NP_874364.1	Q8N5W9	F101B_HUMAN	family with sequence similarity 101, member B	75					actin cytoskeleton organization (GO:0030036)|epithelial to mesenchymal transition (GO:0001837)	actin cytoskeleton (GO:0015629)	filamin binding (GO:0031005)			breast(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)|urinary_tract(1)	13		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.0216)		AGCCAGGGGGAGAGACGCTGG	0.443																																					.													.	FAM101B	19		0			.												10.0	12.0	11.0					17																	295717		1968	4090	6058	SO:0001583	missense	359845	.			AGGGGGAGAGACG			17p13	2008-10-23			ENSG00000183688	ENSG00000183688			28705	protein-coding gene	gene with protein product		615928				12477932	Standard	NM_182705		Approved	MGC45871	uc002frj.3	Q8N5W9	OTTHUMG00000132483	ENST00000329099.4:c.14T>C	17.37:g.295717A>G	ENSP00000331915:p.Leu5Pro		Somatic	470	0.0021276596	1		WXS	Illumina HiSeq	Phase_I	618	0.01	6	.	10	0.00	0		Missense_Mutation	SNP	ENST00000329099.4	37		.	.	.	.	.	.	.	.	.	.	A	12.70	2.017632	0.35606	.	.	ENSG00000183688	ENST00000329099	.	.	.	5.05	2.77	0.32553	.	0.516357	0.18702	N	0.133545	T	0.21881	0.0527	N	0.14661	0.345	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.11203	-1.0597	8	0.48119	T	0.1	4.5954	3.5824	0.07958	0.658:0.0:0.1788:0.1632	.	75	Q8N5W9	F101B_HUMAN	P	5	.	ENSP00000331915:L5P	L	-	2	0	FAM101B	295945	0.981000	0.34729	0.000000	0.03702	0.020000	0.10135	3.519000	0.53458	0.240000	0.21263	0.528000	0.53228	CTC			0.443	FAM101B-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000255652.1		NM_182705	
SHISA6	388336	broad.mit.edu;mdanderson.org	37	17	11145253	11145253	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:11145253G>T	ENST00000409168.3	+	1	514	c.514G>T	c.(514-516)Gac>Tac	p.D172Y	SHISA6_ENST00000432116.3_Missense_Mutation_p.D172Y|SHISA6_ENST00000441885.3_Missense_Mutation_p.D172Y	NM_001173461.1	NP_001166932.1	Q6ZSJ9	SHSA6_HUMAN	shisa family member 6	172						alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)				breast(1)|endometrium(4)	5						CCCGGAGAAGGACAAGACCAA	0.642																																					p.D172Y													.	SHISA6	44		0			c.G514T												67.0	76.0	73.0					17																	11145253		692	1591	2283	SO:0001583	missense	388336	exon1			GAGAAGGACAAGA	AK127379, AK128003	CCDS45615.1, CCDS54089.1, CCDS54090.1	17p13.1-p12	2013-07-31	2013-07-31		ENSG00000188803	ENSG00000188803		"""Shisa homologs"""	34491	protein-coding gene	gene with protein product			"""shisa homolog 6 (Xenopus laevis)"""				Standard	NM_207386		Approved	FLJ45455	uc002gnc.2	Q6ZSJ9	OTTHUMG00000154121	ENST00000409168.3:c.514G>T	17.37:g.11145253G>T	ENSP00000387157:p.Asp172Tyr		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	39	0.10	4	NM_207386	2	0.00	0	B3KXV5|Q4PL63	Missense_Mutation	SNP	ENST00000409168.3	37	CCDS54090.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959737	0.92791	.	.	ENSG00000188803	ENST00000441885;ENST00000432116;ENST00000409168;ENST00000343478	T;T;T	0.44083	0.93;0.93;0.93	5.33	5.33	0.75918	.	.	.	.	.	T	0.64853	0.2636	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.67205	-0.5729	9	0.72032	D	0.01	.	16.8462	0.85981	0.0:0.0:1.0:0.0	.	172;172	Q6ZSJ9-3;Q6ZSJ9	.;SHSA6_HUMAN	Y	172;172;172;70	ENSP00000390084:D172Y;ENSP00000388659:D172Y;ENSP00000387157:D172Y	ENSP00000340821:D70Y	D	+	1	0	SHISA6	11085978	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.321000	0.96353	2.655000	0.90218	0.591000	0.81541	GAC			0.642	SHISA6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000333970.2		NM_207386	
BTBD17	388419	mdanderson.org	37	17	72353826	72353826	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:72353826A>G	ENST00000375366.3	-	3	533	c.407T>C	c.(406-408)aTc>aCc	p.I136T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	136					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						GTGCAGGGGGATGGCCTGGGT	0.721																																					p.I136T													.	.			0			c.T407C												7.0	5.0	6.0					17																	72353826		2056	4056	6112	SO:0001583	missense	388419	exon3			AGGGGGATGGCCT		CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.407T>C	17.37:g.72353826A>G	ENSP00000364515:p.Ile136Thr		Somatic	44	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_001080466	2	0.00	0		Missense_Mutation	SNP	ENST00000375366.3	37	CCDS32719.1	.	.	.	.	.	.	.	.	.	.	A	11.88	1.770001	0.31320	.	.	ENSG00000204347	ENST00000375366	T	0.66995	-0.24	4.8	4.8	0.61643	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.191183	0.45867	D	0.000327	T	0.55752	0.1940	L	0.39397	1.21	0.40924	D	0.984333	B	0.20550	0.046	B	0.26202	0.067	T	0.52771	-0.8531	10	0.25751	T	0.34	-26.4183	9.7549	0.40498	0.8459:0.0:0.0:0.1541	.	136	A6NE02	BTBDH_HUMAN	T	136	ENSP00000364515:I136T	ENSP00000364515:I136T	I	-	2	0	BTBD17	69865421	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.932000	0.56537	1.814000	0.52955	0.454000	0.30748	ATC			0.721	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442542.1		NM_001080466	
CASKIN2	57513	broad.mit.edu	37	17	73498806	73498806	+	Silent	SNP	C	C	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:73498806C>G	ENST00000321617.3	-	18	2935	c.2349G>C	c.(2347-2349)ggG>ggC	p.G783G	CASKIN2_ENST00000433559.2_Silent_p.G701G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	783	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCAGGGGGCCCGGCCAAGT	0.701																																					p.S783S													.	CASKIN2	66		0			c.C2349C												6.0	8.0	7.0					17																	73498806		2042	4122	6164	SO:0001819	synonymous_variant	57513	exon18			AGGGGGCCCGGCC	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2349G>C	17.37:g.73498806C>G			Somatic	52	0.1153846154	6		WXS	Illumina HiSeq	Phase_I	54	0.09	5	NM_020753	43	0.19	8	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	CCDS11723.1																																																																																					0.701	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000447609.1		NM_020753	
QRICH2	84074	mdanderson.org	37	17	74274126	74274126	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:74274126G>T	ENST00000262765.5	-	15	4742	c.4563C>A	c.(4561-4563)agC>agA	p.S1521R		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1521										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GGATTATCTGGCTGCTGGCCT	0.637																																					p.S1521R													.	.			0			c.C4563A												72.0	74.0	73.0					17																	74274126		2203	4300	6503	SO:0001583	missense	84074	exon15			TATCTGGCTGCTG	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4563C>A	17.37:g.74274126G>T	ENSP00000262765:p.Ser1521Arg		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_032134	14	0.00	0	A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.47|13.47	2.247155|2.247155	0.39697|0.39697	.|.	.|.	ENSG00000129646|ENSG00000129646	ENST00000532549|ENST00000262765	.|T	.|0.11063	.|2.81	5.65|5.65	2.54|2.54	0.30619|0.30619	.|.	.|.	.|.	.|.	.|.	T|T	0.27169|0.27169	0.0666|0.0666	M|M	0.68317|0.68317	2.08|2.08	0.28559|0.28559	N|N	0.911233|0.911233	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	T|T	0.05131|0.05131	-1.0904|-1.0904	5|9	.|0.66056	.|D	.|0.02	-22.6342|-22.6342	7.949|7.949	0.30003|0.30003	0.3273:0.0:0.6726:0.0|0.3273:0.0:0.6726:0.0	.|.	.|1521	.|Q9H0J4	.|QRIC2_HUMAN	D|R	169|1521	.|ENSP00000262765:S1521R	.|ENSP00000262765:S1521R	A|S	-|-	2|3	0|2	QRICH2|QRICH2	71785721|71785721	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.603000|0.603000	0.37013|0.37013	0.523000|0.523000	0.22925|0.22925	0.316000|0.316000	0.23135|0.23135	0.491000|0.491000	0.48974|0.48974	GCC|AGC			0.637	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395140.1		NM_032134	
CCDC40	55036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	17	78023947	78023947	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr17:78023947C>T	ENST00000397545.4	+	7	1051	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000374876.4_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000269318.5_Nonsense_Mutation_p.Q342*	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	342					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTACACCTGCAGAAGCTGCT	0.627																																					p.Q342X													.	.			0			c.C1024T												21.0	25.0	24.0					17																	78023947		2135	4245	6380	SO:0001587	stop_gained	55036	exon7			CACCTGCAGAAGC	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.1024C>T	17.37:g.78023947C>T	ENSP00000380679:p.Gln342*		Somatic	104	0	0		WXS	Illumina HiSeq	.	86	0.21	18	NM_017950	9	0.33	3	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Nonsense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791309	0.70452	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-49.7144	15.7201	0.77700	0.0:0.8633:0.1367:0.0	.	.	.	.	X	342	.	ENSP00000269318:Q342X	Q	+	1	0	CCDC40	75638542	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	3.816000	0.55658	2.385000	0.81259	0.655000	0.94253	CAG			0.627	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000256005.2		XM_371082	
MED16	10025	broad.mit.edu;mdanderson.org	37	19	889725	889725	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:889725G>C	ENST00000589119.1	-	3	359	c.360C>G	c.(358-360)agC>agG	p.S120R	MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.S120R|MED16_ENST00000312090.6_Missense_Mutation_p.S120R|MED16_ENST00000325464.1_Missense_Mutation_p.S120R|MED16_ENST00000395808.3_Missense_Mutation_p.S120R			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	120					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCACTGAGCTCTCCCAGC	0.622																																					p.S120R													.	MED16	61		0			c.C360G												60.0	45.0	50.0					19																	889725		2203	4300	6503	SO:0001583	missense	10025	exon4			CACTGAGCTCTCC	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.360C>G	19.37:g.889725G>C	ENSP00000464810:p.Ser120Arg		Somatic	147	0	0		WXS	Illumina HiSeq	Phase_I	114	0.04	5	NM_005481	125	0.00	0	Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	0.739	-0.777045	0.02929	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.16073	2.37;2.37;2.37;2.37	3.34	3.34	0.38264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	0.413114	0.28933	N	0.013676	T	0.11452	0.0279	L	0.40543	1.245	0.37810	D	0.928015	P;B;B;B;P	0.45902	0.868;0.275;0.157;0.275;0.458	B;B;B;B;B	0.39660	0.306;0.075;0.085;0.159;0.247	T	0.14615	-1.0466	10	0.13853	T	0.58	-4.3285	7.9627	0.30081	0.1142:0.0:0.8858:0.0	.	120;120;120;120;120	B9TX03;Q9Y2X0-2;E7ETV0;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	R	120	ENSP00000325612:S120R;ENSP00000308528:S120R;ENSP00000379153:S120R;ENSP00000269814:S120R	ENSP00000269814:S120R	S	-	3	2	MED16	840725	1.000000	0.71417	0.842000	0.33263	0.382000	0.30200	3.975000	0.56859	1.725000	0.51514	0.313000	0.20887	AGC			0.622	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000457902.3		NM_005481	
C19orf25	148223	hgsc.bcm.edu	37	19	1482012	1482012	+	5'Flank	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:1482012G>T	ENST00000436106.2	-	0	0				CTB-25B13.6_ENST00000585643.1_RNA|C19orf25_ENST00000585675.1_5'Flank|C19orf25_ENST00000592872.1_5'Flank|C19orf25_ENST00000591027.1_5'Flank|C19orf25_ENST00000588871.1_5'Flank|C19orf25_ENST00000588427.1_5'Flank|C19orf25_ENST00000586564.1_5'Flank|PCSK4_ENST00000300954.5_Missense_Mutation_p.P672T|C19orf25_ENST00000427685.2_5'Flank			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GTGGAGGATGGGGGACAGGAG	0.731																																					p.P672T													.	.			0			c.C2014A												7.0	6.0	6.0					19																	1482012		2063	4090	6153	SO:0001631	upstream_gene_variant	54760	exon15			AGGATGGGGGACA	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482012G>T	Exception_encountered		Somatic	27	0	0		WXS	Illumina HiSeq	.	26	0.15	4	NM_017573	3	0.00	0	B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	ENST00000436106.2	37	CCDS45898.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.554475	0.27739	.	.	ENSG00000115257	ENST00000300954	T	0.63913	-0.07	3.88	2.73	0.32206	Growth factor, receptor (1);	0.284830	0.22606	U	0.057899	T	0.49575	0.1565	L	0.49455	1.56	0.18873	N	0.999984	P	0.41673	0.759	B	0.34824	0.19	T	0.46076	-0.9217	10	0.36615	T	0.2	.	10.4211	0.44350	0.0:0.2012:0.7988:0.0	.	672	Q6UW60	PCSK4_HUMAN	T	672	ENSP00000300954:P672T	ENSP00000300954:P672T	P	-	1	0	PCSK4	1433012	0.000000	0.05858	0.078000	0.20375	0.043000	0.13939	0.243000	0.18106	1.722000	0.51474	0.313000	0.20887	CCA			0.731	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000449694.1		NM_152482	
ZFR2	23217	broad.mit.edu;mdanderson.org	37	19	3822136	3822136	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:3822136G>C	ENST00000262961.4	-	9	1444	c.1434C>G	c.(1432-1434)aaC>aaG	p.N478K		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	478							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGTTAAGGTCGTTGAAACTGC	0.662																																					p.N478K													.	ZFR2	63		0			c.C1434G												29.0	33.0	32.0					19																	3822136		2091	4209	6300	SO:0001583	missense	23217	exon9			AAGGTCGTTGAAA	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1434C>G	19.37:g.3822136G>C	ENSP00000262961:p.Asn478Lys		Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	68	0.06	4	NM_015174	1	0.00	0		Missense_Mutation	SNP	ENST00000262961.4	37	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384051	0.42308	.	.	ENSG00000105278	ENST00000262961	T	0.23754	1.89	3.54	-0.136	0.13473	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.151199	0.41097	U	0.000943	T	0.41534	0.1163	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.25745	-1.0123	10	0.87932	D	0	-25.4743	5.8894	0.18899	0.67:0.0:0.33:0.0	.	478	Q9UPR6	ZFR2_HUMAN	K	478	ENSP00000262961:N478K	ENSP00000262961:N478K	N	-	3	2	ZFR2	3773136	0.987000	0.35691	0.327000	0.25402	0.220000	0.24768	0.220000	0.17660	0.154000	0.19237	0.462000	0.41574	AAC			0.662	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000453648.2		NM_015174	
SYCE2	256126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	13011447	13011447	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:13011447C>G	ENST00000293695.7	-	4	340	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	GCDH_ENST00000588242.2_3'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	108					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						TCTAATTTCTCTGTCAGATCC	0.388																																					p.E108Q													.	.			0			c.G322C												127.0	113.0	117.0					19																	13011447		1848	4091	5939	SO:0001583	missense	256126	exon4			ATTTCTCTGTCAG	AK097443	CCDS42509.1	19p13.13	2008-02-05				ENSG00000161860			27411	protein-coding gene	gene with protein product	"""central element synaptonemal complex 1"""	611487				15944401	Standard	NM_001105578		Approved	CESC1	uc002mvr.2	Q6PIF2		ENST00000293695.7:c.322G>C	19.37:g.13011447C>G	ENSP00000293695:p.Glu108Gln		Somatic	119	0	0		WXS	Illumina HiSeq	.	103	0.17	17	NM_001105578	10	0.20	2	B4DYD3	Missense_Mutation	SNP	ENST00000293695.7	37	CCDS42509.1	.	.	.	.	.	.	.	.	.	.	C	7.603	0.673213	0.14776	.	.	ENSG00000161860	ENST00000293695	T	0.78246	-1.16	4.67	3.62	0.41486	.	0.369739	0.27627	N	0.018524	T	0.57373	0.2049	N	0.15975	0.35	0.23997	N	0.996226	B	0.24426	0.103	B	0.23419	0.046	T	0.44467	-0.9326	10	0.33141	T	0.24	-2.8527	5.7032	0.17893	0.196:0.706:0.0:0.098	.	108	Q6PIF2	SYCE2_HUMAN	Q	108	ENSP00000293695:E108Q	ENSP00000293695:E108Q	E	-	1	0	SYCE2	12872447	0.946000	0.32159	0.973000	0.42090	0.337000	0.28794	1.945000	0.40273	1.154000	0.42482	0.558000	0.71614	GAG			0.388	SYCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451913.1		XM_497609	
FAM32A	26017	broad.mit.edu	37	19	16296279	16296279	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:16296279A>G	ENST00000263384.7	+	1	51	c.26A>G	c.(25-27)aAg>aGg	p.K9R	CTD-2562J15.4_ENST00000591038.1_RNA|FAM32A_ENST00000589852.1_5'UTR|FAM32A_ENST00000588367.1_Missense_Mutation_p.K9R	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	9	Lys-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			lung(1)	1						CAGGTCCAAAAGGGACCCCTG	0.597											OREG0025331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K9R													.	FAM32A	6		0			c.A26G												35.0	31.0	32.0					19																	16296279		2179	4272	6451	SO:0001583	missense	26017	exon1			TCCAAAAGGGACC	BC000639	CCDS12341.1	19p13.12-p13.11	2013-09-19			ENSG00000105058	ENSG00000105058			24563	protein-coding gene	gene with protein product		614554				11230166, 10810093	Standard	NM_014077		Approved	DKFZP586O0120	uc002ndt.3	Q9Y421	OTTHUMG00000182279	ENST00000263384.7:c.26A>G	19.37:g.16296279A>G	ENSP00000263384:p.Lys9Arg		Somatic	181	0.0055248619	1	709	WXS	Illumina HiSeq	Phase_I	127	0.03	4	NM_014077	289	0.00	0	Q9BT02	Missense_Mutation	SNP	ENST00000263384.7	37	CCDS12341.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735976	0.30774	.	.	ENSG00000105058	ENST00000263384	.	.	.	3.41	-0.00507	0.14019	.	0.175899	0.46442	N	0.000296	T	0.39436	0.1078	L	0.37507	1.11	0.42328	D	0.992285	B	0.15719	0.014	B	0.17098	0.017	T	0.07712	-1.0758	9	0.24483	T	0.36	-15.6387	6.2518	0.20850	0.5224:0.0:0.4776:0.0	.	9	Q9Y421	FA32A_HUMAN	R	9	.	ENSP00000263384:K9R	K	+	2	0	FAM32A	16157279	1.000000	0.71417	0.786000	0.31890	0.955000	0.61496	1.205000	0.32308	0.061000	0.16311	0.456000	0.33151	AAG			0.597	FAM32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460346.1		NM_014077	
ANKLE1	126549	broad.mit.edu	37	19	17397498	17397501	+	3'UTR	DEL	TGTT	TGTT	-	rs71180380|rs563327402|rs534658778|rs1465582	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	TGTT	TGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:17397498_17397501delTGTT	ENST00000394458.3	+	0	2261_2264				ANKLE1_ENST00000598347.1_Frame_Shift_Del_p.CL590fs|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000404085.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						tgtgtgtgtgtgtttgtgtgtgtg	0.529																																					.													.	ANKLE1	27		0			.																																									SO:0001624	3_prime_UTR_variant	126549	.			TGTGTGTGTTTGT	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*140TGTT>-	19.37:g.17397498_17397501delTGTT			Somatic	19	0	0		WXS	Illumina HiSeq	Phase_I	14	0.79	11	.	3	0.00	0	A8VU82|Q8N8J8	Frame_Shift_Del	DEL	ENST00000394458.3	37	CCDS12354.2																																																																																					0.529	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000325392.2		NM_152363	
FAM187B	148109	mdanderson.org	37	19	35716025	35716025	+	Silent	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:35716025G>T	ENST00000324675.3	-	2	861	c.813C>A	c.(811-813)acC>acA	p.T271T		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	271						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCTGCCGCCGGTGGAGGGGT	0.667																																					p.T271T													.	.			0			c.C813A												12.0	15.0	14.0					19																	35716025		2198	4294	6492	SO:0001819	synonymous_variant	148109	exon2			GCCGCCGGTGGAG	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.813C>A	19.37:g.35716025G>T			Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_152481	0		0	Q8N7G6	Silent	SNP	ENST00000324675.3	37	CCDS12448.1																																																																																					0.667	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378854.1		NM_152481	
CAPNS1	826	broad.mit.edu;bcgsc.ca;mdanderson.org	37	19	36632054	36632054	+	Silent	SNP	C	C	T	rs17879825		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000590874.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000588780.1_Silent_p.G47G|CAPNS1_ENST00000587718.1_Silent_p.G47G|CAPNS1_ENST00000588815.1_Silent_p.G47G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcggtggtggag	0.761																																					p.G47G	Esophageal Squamous(129;1541 1691 5780 18353 34150)												.	CAPNS1	19		0			c.C141T																																									SO:0001819	synonymous_variant	826	exon2			CGGCGGCGGTGGT	X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.141C>T	19.37:g.36632054C>T			Somatic	65	0.0153846154	1		WXS	Illumina HiSeq	Phase_I	115	0.07	8	NM_001749	2	0.00	0	A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	ENST00000246533.3	37	CCDS12489.1																																																																																					0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457411.2			
ARHGEF1	9138	mdanderson.org	37	19	42409964	42409964	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr19:42409964A>G	ENST00000354532.3	+	25	2537	c.2389A>G	c.(2389-2391)Acg>Gcg	p.T797A	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.T779A|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.T764A|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.T812A|CTD-2575K13.6_ENST00000597630.1_RNA|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.T853A	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	797					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGCCGAGAGACGTCTCCAGC	0.667																																					p.T812A													ARHGEF1,NS,carcinoma,-2,1	ARHGEF1	-2	1	0			c.A2434G												63.0	58.0	60.0					19																	42409964		2203	4300	6503	SO:0001583	missense	9138	exon25			CGAGAGACGTCTC	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.2389A>G	19.37:g.42409964A>G	ENSP00000346532:p.Thr797Ala		Somatic	73	0.0136986301	1		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_199002	157	0.01	1	O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	ENST00000354532.3	37	CCDS12591.1	.	.	.	.	.	.	.	.	.	.	A	3.229	-0.157861	0.06544	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.63580	0.14;0.15;0.14;-0.05	3.72	0.196	0.15159	.	1.033930	0.07686	N	0.937965	T	0.29028	0.0721	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.21075	-1.0256	10	0.08381	T	0.77	-5.1019	5.9719	0.19357	0.6303:0.0:0.3697:0.0	.	779;812;764;797	Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;ARHG1_HUMAN	A	797;764;812;779	ENSP00000346532:T797A;ENSP00000344429:T764A;ENSP00000337261:T812A;ENSP00000367394:T779A	ENSP00000337261:T812A	T	+	1	0	ARHGEF1	47101804	0.521000	0.26258	0.305000	0.25099	0.479000	0.33129	0.314000	0.19432	0.011000	0.14865	0.440000	0.28878	ACG			0.667	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000463360.1		NM_199002	
YWHAQ	10971	broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	9725475	9725475	+	Splice_Site	SNP	C	C	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:9725475C>G	ENST00000381844.4	-	5	842		c.e5-1		YWHAQ_ENST00000238081.3_Splice_Site|YWHAQ_ENST00000474715.1_Splice_Site			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta						apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|protein complex (GO:0043234)	protein N-terminus binding (GO:0047485)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		ATGTCCAAAGCTAGAAAAAGA	0.353																																					.													.	YWHAQ	14		0			c.679-1G>C												96.0	92.0	93.0					2																	9725475		2203	4300	6503	SO:0001630	splice_region_variant	10971	exon7			CCAAAGCTAGAAA	AF070556	CCDS1666.1	2p25.2-p25.1	2013-12-03	2013-12-03		ENSG00000134308	ENSG00000134308			12854	protein-coding gene	gene with protein product	"""protein tau"""	609009	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide"""			11080204	Standard	NM_006826		Approved	HS1, 14-3-3	uc002qzx.3	P27348	OTTHUMG00000013848	ENST00000381844.4:c.679-1G>C	2.37:g.9725475C>G			Somatic	231	0	0		WXS	Illumina HiSeq	Phase_I	414	0.03	13	NM_006826	4	0.00	0	D6W4Z5|Q567U5|Q5TZU8|Q9UP48	Splice_Site	SNP	ENST00000381844.4	37	CCDS1666.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229363	0.58777	.	.	ENSG00000134308	ENST00000238081;ENST00000381844;ENST00000539979	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4146	0.87496	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	YWHAQ	9642926	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.363000	0.79516	2.635000	0.89317	0.467000	0.42956	.			0.353	YWHAQ-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000039014.4		NM_006826	Intron
NT5C1B	93034	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	2	18765887	18765887	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:18765887C>G	ENST00000359846.2	-	5	873	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	NT5C1B_ENST00000600945.1_Missense_Mutation_p.E266Q|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E266Q|NT5C1B_ENST00000304081.4_Missense_Mutation_p.E206Q|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'Flank	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	266					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCTGCTGCTCGGACAGAGAG	0.652																																					p.E283Q													NT5C1B,NS,carcinoma,0,1	NT5C1B	0	1	0			c.G847C												18.0	20.0	19.0					2																	18765887		2202	4296	6498	SO:0001583	missense	93034	exon5			GCTGCTCGGACAG	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.796G>C	2.37:g.18765887C>G	ENSP00000352904:p.Glu266Gln		Somatic	79	0	0		WXS	Illumina HiSeq	.	141	0.07	10	NM_001199087	1	0.00	0	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	ENST00000359846.2	37	CCDS33150.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174924	0.57692	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846	D	0.89746	-2.56	4.34	3.44	0.39384	.	1.923890	0.02542	N	0.094695	D	0.89354	0.6691	N	0.24115	0.695	0.09310	N	1	D;D;D;D;B;P;D;D;D	0.58620	0.983;0.983;0.963;0.983;0.05;0.849;0.978;0.963;0.978	P;P;P;P;B;B;P;P;P	0.54544	0.676;0.676;0.574;0.676;0.014;0.415;0.755;0.574;0.755	T	0.79374	-0.1830	10	0.41790	T	0.15	-17.1853	12.8755	0.57988	0.0:0.8353:0.1647:0.0	.	249;283;206;249;208;58;206;266;266	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-3;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;.;5NT1B_HUMAN;.	Q	266;208;206;266	ENSP00000412639:E208Q	ENSP00000305979:E206Q	E	-	1	0	NT5C1B-RDH14;NT5C1B	18629368	0.000000	0.05858	0.157000	0.22605	0.007000	0.05969	0.315000	0.19451	1.121000	0.41925	-0.537000	0.04273	GAG			0.652	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000323822.1			
SOS1	6654	broad.mit.edu	37	2	39213243	39213243	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:39213243delT	ENST00000426016.1	-	24	3810	c.3724delA	c.(3724-3726)agtfs	p.S1242fs	SOS1_ENST00000395038.2_Frame_Shift_Del_p.S1227fs|SOS1_ENST00000402219.2_Frame_Shift_Del_p.S1242fs			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1242					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCATGGTCACTTTTTTTGCCC	0.517									Noonan syndrome																												p.S1242fs													.	SOS1	134		0			c.3724delA												134.0	134.0	134.0					2																	39213243		2203	4300	6503	SO:0001589	frameshift_variant	6654	exon23	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	GGTCACTTTTTTT	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3724delA	2.37:g.39213243delT	ENSP00000387784:p.Ser1242fs		Somatic	259	0	0		WXS	Illumina HiSeq	Phase_I	589	0.02	9	NM_005633	185	0.00	0	A8K2G3|B4DXG2	Frame_Shift_Del	DEL	ENST00000426016.1	37	CCDS1802.1																																																																																					0.517	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219948.3		NM_005633	
SOS1	6654	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	39224171	39224171	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:39224171A>T	ENST00000426016.1	-	20	3059	c.2973T>A	c.(2971-2973)ttT>ttA	p.F991L	SOS1_ENST00000395038.2_Missense_Mutation_p.F991L|SOS1_ENST00000402219.2_Missense_Mutation_p.F991L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	991	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N993fs*5(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCAAGTTTTCAAAGAACCTCT	0.289									Noonan syndrome																												p.F991L													.	.			1	Deletion - Frameshift(1)	autonomic_ganglia(1)	c.T2973A												43.0	44.0	44.0					2																	39224171		2201	4300	6501	SO:0001583	missense	6654	exon19	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	GTTTTCAAAGAAC	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2973T>A	2.37:g.39224171A>T	ENSP00000387784:p.Phe991Leu		Somatic	87	0	0		WXS	Illumina HiSeq	.	235	0.10	23	NM_005633	114	0.12	14	A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776816	0.49786	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038;ENST00000263879	T;T;T	0.23552	1.9;1.9;1.9	5.22	4.07	0.47477	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.054374	0.85682	D	0.000000	T	0.09512	0.0234	N	0.02011	-0.69	0.80722	D	1	B	0.32876	0.388	B	0.34779	0.189	T	0.23332	-1.0191	10	0.17369	T	0.5	.	8.8423	0.35148	0.8477:0.0:0.1523:0.0	.	991	Q07889	SOS1_HUMAN	L	991;991;723;991;991	ENSP00000387784:F991L;ENSP00000384675:F991L;ENSP00000378479:F991L	ENSP00000263879:F991L	F	-	3	2	SOS1	39077675	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.459000	0.53021	0.832000	0.34804	0.383000	0.25322	TTT			0.289	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219948.3		NM_005633	
CHMP3	51652	mdanderson.org	37	2	86737587	86737587	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:86737587G>A	ENST00000263856.4	-	4	430	c.302C>T	c.(301-303)gCt>gTt	p.A101V	CHMP3_ENST00000409727.1_Intron|CHMP3_ENST00000439940.2_Missense_Mutation_p.A130V|CHMP3_ENST00000494623.1_5'UTR|CHMP3_ENST00000409225.2_Missense_Mutation_p.A35V|RNF103-CHMP3_ENST00000604011.1_Missense_Mutation_p.A130V	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	101	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											CAGGGAACCAGCCACTCGCAA	0.458																																					p.A130V													.	.			0			c.C389T												83.0	76.0	78.0					2																	86737587		2203	4300	6503	SO:0001583	missense	100526767	exon6			GAACCAGCCACTC	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.302C>T	2.37:g.86737587G>A	ENSP00000263856:p.Ala101Val		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_001198954	180	0.00	0	A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Missense_Mutation	SNP	ENST00000263856.4	37	CCDS33236.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.402255	0.83230	.	.	ENSG00000115561;ENSG00000115561;ENSG00000115561;ENSG00000249884	ENST00000263856;ENST00000409225;ENST00000439940;ENST00000440757	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	5.47	4.58	0.56647	.	0.048595	0.85682	D	0.000000	T	0.68476	0.3005	L	0.31294	0.92	0.80722	D	1	P;D	0.58970	0.892;0.984	B;P	0.55545	0.446;0.778	T	0.62590	-0.6822	10	0.17832	T	0.49	-4.8455	14.3093	0.66405	0.0738:0.0:0.9262:0.0	.	130;101	Q9Y3E7-3;Q9Y3E7	.;CHMP3_HUMAN	V	101;35;130;208	ENSP00000263856:A101V;ENSP00000386590:A35V;ENSP00000405575:A130V;ENSP00000392995:A208V	ENSP00000392995:A208V	A	-	2	0	VPS24;RNF103-VPS24	86591098	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.398000	0.97281	2.566000	0.86566	0.655000	0.94253	GCT			0.458	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000330015.2		NM_016079	
ANKRD20A8P	729171	broad.mit.edu	37	2	95518674	95518674	+	RNA	DEL	G	G	-	rs200580888		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:95518674delG	ENST00000432432.2	-	0	605					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene																		AAAAAAAAAAGAATAACCCTG	0.274																																					.													.	.			0			.																																											0	.			AAAAAAGAATAAC			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95518674delG			Somatic	7	0	0		WXS	Illumina HiSeq	Phase_I	7	0.43	3	.	0		0	A6NC18	RNA	DEL	ENST00000432432.2	37																																																																																						0.274	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene		OTTHUMT00000451404.1			
CDK15	65061	broad.mit.edu	37	2	202688417	202688417	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:202688417G>C	ENST00000374598.4	+	6	573	c.573G>C	c.(571-573)caG>caC	p.Q191H	CDK15_ENST00000260967.2_Missense_Mutation_p.Q140H|CDK15_ENST00000488419.1_Intron|CDK15_ENST00000434439.1_Missense_Mutation_p.Q191H|CDK15_ENST00000450471.2_Missense_Mutation_p.Q191H|CDK15_ENST00000410091.3_Missense_Mutation_p.Q140H			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	191	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ATATGTCTCAGCATCCAGGAG	0.468																																					p.Q191H													.	CDK15	66		0			c.G573C												172.0	158.0	163.0					2																	202688417		2203	4300	6503	SO:0001583	missense	65061	exon6			GTCTCAGCATCCA	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.573G>C	2.37:g.202688417G>C	ENSP00000363726:p.Gln191His		Somatic	120	0	0		WXS	Illumina HiSeq	Phase_I	149	0.03	4	NM_001261435	3	0.00	0	A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37		.	.	.	.	.	.	.	.	.	.	G	14.21	2.466312	0.43839	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	6.16	1.88	0.25563	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.063675	0.64402	N	0.000004	T	0.24812	0.0602	N	0.16266	0.395	0.53005	D	0.99996	B;B	0.16396	0.017;0.013	B;B	0.20184	0.028;0.017	T	0.04537	-1.0944	10	0.34782	T	0.22	-10.484	9.4862	0.38931	0.1967:0.1077:0.6956:0.0	.	191;191	Q96Q40;F8W6H8	CDK15_HUMAN;.	H	140;140;191;191;191	ENSP00000386901:Q140H;ENSP00000260967:Q140H;ENSP00000406472:Q191H;ENSP00000412775:Q191H;ENSP00000363726:Q191H	ENSP00000260967:Q140H	Q	+	3	2	CDK15	202396662	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.733000	0.47360	0.480000	0.27534	0.650000	0.86243	CAG			0.468	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000336053.2			
SLC4A3	6508	broad.mit.edu	37	2	220503458	220503458	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr2:220503458T>C	ENST00000358055.3	+	19	3402	c.2890T>C	c.(2890-2892)Tct>Cct	p.S964P	SLC4A3_ENST00000273063.6_Missense_Mutation_p.S991P|SLC4A3_ENST00000373760.2_Missense_Mutation_p.S964P|SLC4A3_ENST00000317151.3_Missense_Mutation_p.S964P|SLC4A3_ENST00000373762.3_Missense_Mutation_p.S991P			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	964	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAGTGACCTCTCCCGATAA	0.627																																					p.S991P													.	SLC4A3	144		0			c.T2971C												61.0	57.0	58.0					2																	220503458		2203	4300	6503	SO:0001583	missense	6508	exon19			GTGACCTCTCCCG		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2890T>C	2.37:g.220503458T>C	ENSP00000350756:p.Ser964Pro		Somatic	81	0.012345679	1		WXS	Illumina HiSeq	Phase_I	107	0.03	3	NM_201574	47	0.00	0	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	T	17.56	3.420040	0.62622	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000356251;ENST00000317151	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	4.7	4.7	0.59300	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86389	0.5921	M	0.79123	2.44	0.51482	D	0.999921	P;P;D	0.59357	0.886;0.956;0.985	P;P;P	0.59889	0.708;0.864;0.865	D	0.86208	0.1623	10	0.42905	T	0.14	.	10.5825	0.45263	0.1441:0.0:0.0:0.8559	.	668;964;991	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	P	964;964;991;991;224;964	ENSP00000350756:S964P;ENSP00000362865:S964P;ENSP00000273063:S991P;ENSP00000362867:S991P;ENSP00000314006:S964P	ENSP00000273063:S991P	S	+	1	0	SLC4A3	220211702	0.192000	0.23301	1.000000	0.80357	0.959000	0.62525	0.648000	0.24828	2.099000	0.63709	0.529000	0.55759	TCT			0.627	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316472.1		NM_005070	
CDH22	64405	broad.mit.edu	37	20	44879773	44879773	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr20:44879773G>T	ENST00000372262.3	-	1	561	c.161C>A	c.(160-162)gCg>gAg	p.A54E	CDH22_ENST00000537909.1_Missense_Mutation_p.A54E	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	54					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCTCCCAGCGCGCCGTCCTG	0.716																																					p.A54E													.	CDH22	112		0			c.C161A												14.0	16.0	16.0					20																	44879773		2175	4230	6405	SO:0001583	missense	64405	exon2			CCCAGCGCGCCGT	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.161C>A	20.37:g.44879773G>T	ENSP00000361336:p.Ala54Glu		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	120	0.03	3	NM_021248	0		0	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	g	0.639	-0.814162	0.02798	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.56776	0.44;0.44	3.29	1.04	0.20106	.	0.709475	0.11585	U	0.549381	T	0.21921	0.0528	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.22103	-1.0226	10	0.06365	T	0.9	.	1.1646	0.01813	0.1442:0.2153:0.3988:0.2417	.	54	Q9UJ99	CAD22_HUMAN	E	54	ENSP00000361336:A54E;ENSP00000437790:A54E	ENSP00000361336:A54E	A	-	2	0	CDH22	44313180	0.000000	0.05858	0.002000	0.10522	0.782000	0.44232	0.508000	0.22692	0.049000	0.15920	0.187000	0.17357	GCG			0.716	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080491.1		NM_021248	
GNAS	2778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	57485046	57485046	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr20:57485046C>G	ENST00000371085.3	+	11	1304	c.880C>G	c.(880-882)Caa>Gaa	p.Q294E	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.Q937E|GNAS_ENST00000371095.3_Missense_Mutation_p.Q280E|GNAS_ENST00000371102.4_Missense_Mutation_p.Q923E|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.Q280E|GNAS_ENST00000265620.7_Missense_Mutation_p.Q279E|GNAS_ENST00000354359.7_Missense_Mutation_p.Q295E	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	294					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTCAACAAGCAAGATCTGCT	0.527			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											p.Q937E	Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	.	.			0			c.C2809G												103.0	99.0	100.0					20																	57485046		2203	4300	6503	SO:0001583	missense	2778	exon11			AACAAGCAAGATC	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.880C>G	20.37:g.57485046C>G	ENSP00000360126:p.Gln294Glu		Somatic	107	0	0		WXS	Illumina HiSeq	.	104	0.24	25	NM_080425	4628	0.34	1556	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135055	0.94517	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	5.29	5.29	0.74685	.	0.054543	0.85682	D	0.000000	D	0.95623	0.8577	M	0.90145	3.09	0.80722	D	1	P;D;D;D	0.89917	0.933;0.995;0.993;1.0	P;D;D;D	0.74348	0.645;0.966;0.917;0.983	D	0.96183	0.9132	10	0.87932	D	0	.	19.2712	0.94010	0.0:1.0:0.0:0.0	.	294;295;279;937	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	E	937;923;280;294;295;279;280;60	ENSP00000360141:Q937E;ENSP00000360143:Q923E;ENSP00000360136:Q280E;ENSP00000360126:Q294E;ENSP00000346328:Q295E;ENSP00000265620:Q279E;ENSP00000304472:Q280E	ENSP00000265620:Q279E	Q	+	1	0	GNAS	56918441	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.348000	0.79366	2.625000	0.88918	0.591000	0.81541	CAA			0.527	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000080431.2		NM_000516	
BAGE2	85319	broad.mit.edu	37	21	11081137	11081137	+	RNA	DEL	C	C	-	rs1819365|rs373043050	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr21:11081137delC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aaaaaaaaaacaaaaCTAAgc	0.522																																					.													.	.			0			.																																											85319	.			AAAAAACAAAACT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11081137delC			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	7	1.00	7	.	0		0	A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.522	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157417.3		NM_182482	
TFF3	7033	broad.mit.edu	37	21	43733726	43733726	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr21:43733726G>A	ENST00000518498.1	-	2	374	c.140C>T	c.(139-141)gCc>gTc	p.A47V	TFF3_ENST00000291525.10_Missense_Mutation_p.A83V|TFF3_ENST00000489676.1_5'UTR			Q07654	TFF3_HUMAN	trefoil factor 3 (intestinal)	33	P-type. {ECO:0000255|PROSITE- ProRule:PRU00779}.				defense response (GO:0006952)|digestion (GO:0007586)|response to peptide hormone (GO:0043434)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGCTGGCACGGCACACTGGTT	0.602																																					p.A47V													.	TFF3	9		0			c.C140T												48.0	42.0	44.0					21																	43733726		2203	4300	6503	SO:0001583	missense	7033	exon2			GGCACGGCACACT	AF432265	CCDS33565.1, CCDS33565.2	21q22.3	2006-05-16			ENSG00000160180	ENSG00000160180			11757	protein-coding gene	gene with protein product		600633				7718582, 9043862	Standard	NM_003226		Approved	HITF, ITF	uc002zav.3	Q07654	OTTHUMG00000086798	ENST00000518498.1:c.140C>T	21.37:g.43733726G>A	ENSP00000430690:p.Ala47Val		Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	91	0.04	4	NM_003226	229	0.00	0	E9PBB5|Q96NX0|Q9UDA5	Missense_Mutation	SNP	ENST00000518498.1	37	CCDS33565.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.889798	0.33348	.	.	ENSG00000160180	ENST00000518498;ENST00000291525;ENST00000398431	T;T	0.56275	0.47;0.47	4.31	-0.0159	0.13974	P-type trefoil (5);	0.684703	0.12977	N	0.423615	T	0.31702	0.0805	.	.	.	0.09310	N	1	B	0.22080	0.064	B	0.20767	0.031	T	0.17868	-1.0355	8	.	.	.	-1.7476	5.5642	0.17160	0.1579:0.0:0.3255:0.5166	.	33	Q07654	TFF3_HUMAN	V	47;83;35	ENSP00000430690:A47V;ENSP00000291525:A83V	.	A	-	2	0	TFF3	42606795	0.000000	0.05858	0.000000	0.03702	0.625000	0.37756	-0.334000	0.07883	-0.384000	0.07845	0.561000	0.74099	GCC			0.602	TFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195358.2		NM_003226	
GGT3P	2679	broad.mit.edu	37	22	18770143	18770144	+	RNA	INS	-	-	T	rs372641507		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr22:18770143_18770144insT	ENST00000412448.1	-	0	834							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										aattttaattgtttttttttaG	0.421																																					.													.	.			0			.																																											0	.			TTAATTGTTTTTT			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18770152_18770152dupT			Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	9	0.33	3	.	0		0		RNA	INS	ENST00000412448.1	37																																																																																						0.421	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000341281.1		NR_003267	
TRABD	80305	mdanderson.org	37	22	50633425	50633425	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr22:50633425G>T	ENST00000303434.4	+	5	495	c.376G>T	c.(376-378)Gcc>Tcc	p.A126S	TRABD_ENST00000395829.1_Missense_Mutation_p.A126S|RP3-402G11.25_ENST00000607943.1_RNA|TRABD_ENST00000380909.4_Missense_Mutation_p.A126S|TRABD_ENST00000395827.1_Missense_Mutation_p.A126S	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	126										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GCTGCGGGAGGCCCAGGAGCT	0.652																																					p.A126S													.	.			0			c.G376T												46.0	40.0	42.0					22																	50633425		2202	4300	6502	SO:0001583	missense	80305	exon5			CGGGAGGCCCAGG	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.376G>T	22.37:g.50633425G>T	ENSP00000305664:p.Ala126Ser		Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_025204	33	0.00	0	Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	37	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007052	0.75046	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.68952	2.095	0.80722	D	1	B;P	0.44260	0.222;0.83	B;P	0.47981	0.275;0.563	T	0.57323	-0.7831	10	0.34782	T	0.22	-40.3743	17.4228	0.87519	0.0:0.0:1.0:0.0	.	80;126	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	S	126	ENSP00000370295:A126S;ENSP00000305664:A126S;ENSP00000379171:A126S;ENSP00000379173:A126S	ENSP00000305664:A126S	A	+	1	0	TRABD	48975552	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	8.615000	0.90920	2.113000	0.64589	0.561000	0.74099	GCC			0.652	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000316987.1		NM_025204	
ITPR1	3708	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	4774832	4774832	+	Silent	SNP	C	C	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:4774832C>A	ENST00000443694.2	+	40	5236	c.5236C>A	c.(5236-5238)Cga>Aga	p.R1746R	ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.R1746R|ITPR1_ENST00000302640.8_Silent_p.R1746R|ITPR1_ENST00000357086.4_Silent_p.R1713R|ITPR1_ENST00000456211.2_Silent_p.R1698R|ITPR1_ENST00000423119.2_Silent_p.R1713R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1761					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R1698G(1)|p.R1713G(1)|p.R1746G(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACCTTCGGGACGAAGAGAGAG	0.512																																					p.R1746R													ITPR1_ENST00000357086,NS,carcinoma,0,3	ITPR1_ENST00000357086	0	3	3	Substitution - Missense(3)	endometrium(3)	c.C5236A												68.0	72.0	71.0					3																	4774832		1977	4144	6121	SO:0001819	synonymous_variant	3708	exon42			TCGGGACGAAGAG	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.5236C>A	3.37:g.4774832C>A			Somatic	109	0	0		WXS	Illumina HiSeq	.	127	0.06	7	NM_001168272	20	0.00	0	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	CCDS54551.1																																																																																					0.512	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000337982.3		NM_002222	
SPCS1	28972	mdanderson.org	37	3	52740155	52740155	+	5'UTR	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:52740155G>T	ENST00000602728.1	+	0	62				SPCS1_ENST00000233025.7_Missense_Mutation_p.A32S|GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000478968.2_5'Flank|GLT8D1_ENST00000394783.3_5'Flank|SPCS1_ENST00000423431.1_Intron|GLT8D1_ENST00000491606.1_5'Flank|GLT8D1_ENST00000266014.5_5'Flank			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		AGAAGGCCCGGCTACTGACGC	0.716																																					p.A32S													.	.			0			c.G94T												6.0	10.0	9.0					3																	52740155		685	1572	2257	SO:0001623	5_prime_UTR_variant	28972	exon1			GGCCCGGCTACTG	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.-108G>T	3.37:g.52740155G>T			Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_014041	290	0.00	0	B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37		.	.	.	.	.	.	.	.	.	.	G	9.293	1.051175	0.19827	.	.	ENSG00000114902	ENST00000233025	.	.	.	4.41	-5.77	0.02369	.	.	.	.	.	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18241	-1.0343	8	0.28530	T	0.3	.	1.9465	0.03358	0.1139:0.2482:0.337:0.3009	.	32	Q9Y6A9	SPCS1_HUMAN	S	32	.	ENSP00000233025:A32S	A	+	1	0	SPCS1	52715195	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.631000	0.05496	-1.107000	0.03004	-0.747000	0.03512	GCT			0.716	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000467759.1		NM_014041	
C3orf49	132200	hgsc.bcm.edu	37	3	63823517	63823517	+	Intron	SNP	T	T	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:63823517T>G	ENST00000295896.8	+	5	959				THOC7_ENST00000498422.1_Intron|THOC7_ENST00000295899.5_Intron			Q96BT1	CC049_HUMAN	chromosome 3 open reading frame 49											breast(2)	2						AATATAGTTTTAAGGAATTAA	0.284																																					.													.	.			0			.																																									SO:0001627	intron_variant	132200	.			TAGTTTTAAGGAA	BC015210		3p14.1	2013-01-15			ENSG00000163632	ENSG00000163632			25190	other	unknown						12477932	Standard	NR_026866		Approved		uc003dls.4	Q96BT1	OTTHUMG00000158761	ENST00000295896.8:c.849+5997T>G	3.37:g.63823517T>G			Somatic	38	0	0		WXS	Illumina HiSeq	.	56	0.29	16	.	0		0		RNA	SNP	ENST00000295896.8	37																																																																																						0.284	C3orf49-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000352067.1		NR_026866	
EBLN2	55096	hgsc.bcm.edu	37	3	73111480	73111480	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:73111480A>C	ENST00000533473.1	+	1	671	c.248A>C	c.(247-249)aAc>aCc	p.N83T	PPP4R2_ENST00000394284.3_Intron|PPP4R2_ENST00000295862.9_Intron|PPP4R2_ENST00000356692.5_Intron	NM_018029.3	NP_060499.3	Q6P2I7	EBLN2_HUMAN	endogenous Bornavirus-like nucleoprotein 2	83										endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TCTGGGAAAAACAGACAGTAT	0.483																																					p.N83T													.	.			0			c.A248C												34.0	34.0	34.0					3																	73111480		1943	4138	6081	SO:0001583	missense	55096	exon1			GGAAAAACAGACA		CCDS54608.1	3p13	2011-06-03			ENSG00000255423	ENSG00000255423			25493	protein-coding gene	gene with protein product	"""endogenous Borna-like N element 2"""	613250				20054395, 20686665	Standard	NM_018029		Approved		uc003dpj.3	Q6P2I7	OTTHUMG00000165897	ENST00000533473.1:c.248A>C	3.37:g.73111480A>C	ENSP00000432104:p.Asn83Thr		Somatic	158	0	0		WXS	Illumina HiSeq	.	225	0.04	9	NM_018029	4	0.00	0	Q8WWH3|Q9NW89	Missense_Mutation	SNP	ENST00000533473.1	37	CCDS54608.1	.	.	.	.	.	.	.	.	.	.	A	2.477	-0.320603	0.05386	.	.	ENSG00000255423	ENST00000533473	.	.	.	0.458	-0.848	0.10727	P40 nucleoprotein, subdomain 1, Borna disease virus (1);	.	.	.	.	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.28038	-1.0056	7	0.20046	T	0.44	.	.	.	.	.	83	Q6P2I7	EBLN2_HUMAN	T	83	.	ENSP00000432104:N83T	N	+	2	0	EBLN2	73194170	0.030000	0.19436	0.004000	0.12327	0.004000	0.04260	-1.980000	0.01492	-0.352000	0.08237	-0.354000	0.07668	AAC			0.483	EBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000386932.1		NM_018029	
SENP7	57337	broad.mit.edu	37	3	101066800	101066800	+	Missense_Mutation	SNP	G	G	A	rs201608850		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr3:101066800G>A	ENST00000394095.2	-	13	1806	c.1753C>T	c.(1753-1755)Cat>Tat	p.H585Y	SENP7_ENST00000358203.3_Missense_Mutation_p.H421Y|SENP7_ENST00000314261.7_Missense_Mutation_p.H519Y|SENP7_ENST00000348610.3_Missense_Mutation_p.H552Y|SENP7_ENST00000394091.1_Missense_Mutation_p.H421Y|SENP7_ENST00000394094.2_Missense_Mutation_p.H520Y	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	585						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGAATAGCATGACTCCTTTTA	0.368																																					p.H585Y													.	SENP7	170		0			c.C1753T												131.0	138.0	136.0					3																	101066800		2203	4298	6501	SO:0001583	missense	57337	exon13			TAGCATGACTCCT		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.1753C>T	3.37:g.101066800G>A	ENSP00000377655:p.His585Tyr		Somatic	238	0	0		WXS	Illumina HiSeq	Phase_I	413	0.02	8	NM_020654	38	0.03	1	A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	4.655	0.121785	0.08931	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.18338	2.22;2.23;2.23;2.23;2.23;2.22	5.62	1.94	0.25998	.	0.550372	0.17914	N	0.157757	T	0.07324	0.0185	N	0.24115	0.695	0.09310	N	1	P;P;P;P	0.44090	0.744;0.826;0.684;0.682	B;B;B;B	0.40506	0.271;0.331;0.192;0.122	T	0.15065	-1.0450	10	0.02654	T	1	-0.2818	3.0567	0.06187	0.1587:0.119:0.5329:0.1894	.	421;519;552;585	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	Y	585;520;519;421;421;552	ENSP00000377655:H585Y;ENSP00000377654:H520Y;ENSP00000313624:H519Y;ENSP00000377651:H421Y;ENSP00000350936:H421Y;ENSP00000342159:H552Y	ENSP00000313624:H519Y	H	-	1	0	SENP7	102549490	0.909000	0.30893	0.762000	0.31397	0.723000	0.41478	1.395000	0.34520	1.378000	0.46305	-0.145000	0.13849	CAT			0.368	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000313957.2		NM_020654	
PDS5A	23244	mdanderson.org	37	4	39875970	39875970	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr4:39875970G>T	ENST00000303538.8	-	20	2755	c.2216C>A	c.(2215-2217)gCt>gAt	p.A739D		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACAGTGCACAGCCTGTTTTGC	0.338																																					p.A739D													PDS5A,NS,carcinoma,0,1	PDS5A	0	1	0			c.C2216A												124.0	114.0	117.0					4																	39875970		1825	4088	5913	SO:0001583	missense	23244	exon20			TGCACAGCCTGTT	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.2216C>A	4.37:g.39875970G>T	ENSP00000303427:p.Ala739Asp		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	140	0.04	5	NM_001100399	83	0.00	0		Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	G	33	5.262834	0.95399	.	.	ENSG00000121892	ENST00000303538	T	0.73897	-0.79	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84920	0.5579	M	0.73962	2.25	0.80722	D	1	D	0.62365	0.991	P	0.61201	0.885	D	0.84817	0.0794	9	.	.	.	-9.4084	19.1434	0.93455	0.0:0.0:1.0:0.0	.	739	Q29RF7	PDS5A_HUMAN	D	739	ENSP00000303427:A739D	.	A	-	2	0	PDS5A	39552365	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.750000	0.98875	2.527000	0.85204	0.655000	0.94253	GCT			0.338	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000361287.1		NM_015200	
NAA15	80155	broad.mit.edu;bcgsc.ca;mdanderson.org	37	4	140270698	140270698	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr4:140270698G>T	ENST00000296543.5	+	7	1097	c.774G>T	c.(772-774)tgG>tgT	p.W258C	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.W258C	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	258					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGAAAACTGGGCCTATTACA	0.328																																					p.W258C													.	NAA15	88		0			c.G774T												48.0	45.0	46.0					4																	140270698		1802	4077	5879	SO:0001583	missense	80155	exon7			AAACTGGGCCTAT	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.774G>T	4.37:g.140270698G>T	ENSP00000296543:p.Trp258Cys		Somatic	378	0.0026455026	1		WXS	Illumina HiSeq	Phase_I	292	0.05	16	NM_057175	27	0.00	0	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997093	0.54147	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.52526	0.66;0.66	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.064891	0.64402	D	0.000003	T	0.67646	0.2915	M	0.67953	2.075	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.64287	-0.6443	10	0.40728	T	0.16	-7.0255	19.4586	0.94906	0.0:0.0:1.0:0.0	.	258	Q9BXJ9	NAA15_HUMAN	C	258;132;258	ENSP00000296543:W258C;ENSP00000381920:W258C	ENSP00000296543:W258C	W	+	3	0	NAA15	140490148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.112000	0.94314	2.828000	0.97474	0.655000	0.94253	TGG			0.328	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000267839.2		NM_057175	
RP11-597D13.7	0	broad.mit.edu	37	4	159198730	159198732	+	RNA	DEL	AAG	AAG	-	rs368892491|rs144211879	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr4:159198730_159198732delAAG	ENST00000512016.1	+	0	2092_2094																											GCATAGAGTCAAGAAACTCTATG	0.458														506	0.101038	0.0113	0.1916	5008	,	,		14357	0.1171		0.0527	False		,,,				2504	0.1912				.													.	.			0			.																																											0	.			AGAGTCAAGAAAC																													4.37:g.159198730_159198732delAAG			Somatic	4	0	0		WXS	Illumina HiSeq	Phase_I	7	0.71	5	.	0		0		RNA	DEL	ENST00000512016.1	37																																																																																						0.458	RP11-597D13.7-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000365621.1			
TNPO1	3842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	5	72168496	72168496	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr5:72168496T>A	ENST00000337273.5	+	7	1053	c.627T>A	c.(625-627)ttT>ttA	p.F209L	TNPO1_ENST00000523768.1_Missense_Mutation_p.F159L|TNPO1_ENST00000506351.2_Missense_Mutation_p.F201L|TNPO1_ENST00000447967.2_Nonsense_Mutation_p.L121*|TNPO1_ENST00000454282.1_Missense_Mutation_p.F159L	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	209					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		TCAATCAGTTTATCATCAGTA	0.348																																					p.F209L													.	.			0			c.T627A												150.0	130.0	137.0					5																	72168496		2203	4299	6502	SO:0001583	missense	3842	exon7			TCAGTTTATCATC	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.627T>A	5.37:g.72168496T>A	ENSP00000336712:p.Phe209Leu		Somatic	129	0	0		WXS	Illumina HiSeq	.	97	0.81	79	NM_002270	68	0.91	62	B4DVC6|Q92957|Q92975	Missense_Mutation	SNP	ENST00000337273.5	37	CCDS43329.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	35|35	5.451804|5.451804	0.96205|0.96205	.|.	.|.	ENSG00000083312|ENSG00000083312	ENST00000337273;ENST00000454282;ENST00000523768;ENST00000506351|ENST00000447967	T;T;T;T|.	0.61040|.	0.14;0.14;0.14;0.14|.	5.49|5.49	3.1|3.1	0.35709|0.35709	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61223|.	0.2330|.	M|M	0.86953|0.86953	2.85|2.85	0.58432|0.58432	A|A	0.999999|0.999999	P;B|.	0.39044|.	0.656;0.36|.	P;B|.	0.44946|.	0.465;0.187|.	T|.	0.63102|.	-0.6712|.	9|.	0.54805|0.02654	T|T	0.06|1	-18.9134|-18.9134	7.9949|7.9949	0.30263|0.30263	0.0:0.2285:0.0:0.7715|0.0:0.2285:0.0:0.7715	.|.	159;209|.	Q92973-3;Q92973|.	.;TNPO1_HUMAN|.	L|X	209;159;159;201|121	ENSP00000336712:F209L;ENSP00000398524:F159L;ENSP00000428899:F159L;ENSP00000425118:F201L|.	ENSP00000336712:F209L|ENSP00000415164:L121X	F|L	+|+	3|2	2|0	TNPO1|TNPO1	72204252|72204252	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.972000|0.972000	0.29409|0.29409	0.470000|0.470000	0.27294|0.27294	0.482000|0.482000	0.46254|0.46254	TTT|TTA			0.348	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000218577.3		NM_002270	
PCDHA6	56142	mdanderson.org	37	5	140209305	140209305	+	Silent	SNP	G	G	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr5:140209305G>A	ENST00000529310.1	+	1	1743	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	543	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	calcium ion binding (GO:0005509)	p.P543P(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692																																					p.P543P													PCDHA6_ENST00000529310,rectum,carcinoma,0,6	PCDHA6_ENST00000529310	0	6	2	Substitution - coding silent(2)	lung(2)	c.G1629A												60.0	69.0	66.0					5																	140209305		2201	4298	6499	SO:0001819	synonymous_variant	56142	exon1			CGTGCCGCCTCTG	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1629G>A	5.37:g.140209305G>A			Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_018909	8	0.00	0	O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	CCDS47281.1																																																																																					0.692	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000372829.3		NM_018909	
FAM193B	54540	broad.mit.edu;mdanderson.org	37	5	176963683	176963683	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr5:176963683G>T	ENST00000514747.1	-	4	800	c.752C>A	c.(751-753)cCc>cAc	p.P251H	FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000443375.2_Missense_Mutation_p.P138H|FAM193B_ENST00000508298.1_Intron	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	251	Pro-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						GTGGCCGGTGGGGCTGTTAGG	0.657																																					p.P251H													.	FAM193B	28		0			c.C752A												13.0	16.0	15.0					5																	176963683		2077	4196	6273	SO:0001583	missense	54540	exon4			CCGGTGGGGCTGT		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.752C>A	5.37:g.176963683G>T	ENSP00000422131:p.Pro251His		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_001190946	54	0.00	0	E9PET5|Q9NW00	Missense_Mutation	SNP	ENST00000514747.1	37	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944526	0.92593	.	.	ENSG00000146067	ENST00000514747;ENST00000443375	T;T	0.69306	-0.39;-0.39	5.22	5.22	0.72569	.	.	.	.	.	T	0.79137	0.4395	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81037	-0.1114	9	0.87932	D	0	-5.6933	18.8022	0.92022	0.0:0.0:1.0:0.0	.	138	E9PEZ8	.	H	251;138	ENSP00000422131:P251H;ENSP00000410098:P138H	ENSP00000410098:P138H	P	-	2	0	FAM193B	176896289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.313000	0.96297	2.433000	0.82419	0.462000	0.41574	CCC			0.657	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373121.1		NM_019057	
BTN2A3P	54718	broad.mit.edu;ucsc.edu;mdanderson.org	37	6	26431466	26431466	+	RNA	SNP	G	G	A			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr6:26431466G>A	ENST00000466808.2	+	0	1447							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											AGGGTCTTATGACAGCCAAAT	0.532																																					.													.	.			0			.												97.0	97.0	97.0					6																	26431466		2203	4300	6503			0	.			TCTTATGACAGCC	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26431466G>A			Somatic	160	0.00625	1		WXS	Illumina HiSeq	Phase_I	161	0.35	57	.	8	0.00	0	A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.532	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000040118.4		NR_027795	
HTR1E	3354	broad.mit.edu	37	6	87725556	87725556	+	Silent	SNP	T	T	C			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr6:87725556T>C	ENST00000305344.5	+	2	1207	c.504T>C	c.(502-504)ccT>ccC	p.P168P		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	168					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCCTAAGCCCTCCCCCTAGTC	0.542																																					p.P168P													.	HTR1E	89		0			c.T504C												105.0	97.0	100.0					6																	87725556		2203	4300	6503	SO:0001819	synonymous_variant	3354	exon2			AAGCCCTCCCCCT		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.504T>C	6.37:g.87725556T>C			Somatic	156	0.0192307692	3		WXS	Illumina HiSeq	Phase_I	140	0.04	5	NM_000865	1	0.00	0	E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																					0.542	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000472488.2		NM_000865	
ENPP3	5169	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	131971271	131971271	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr6:131971271G>T	ENST00000414305.1	+	4	587	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ENPP3_ENST00000470930.1_3'UTR|ENPP3_ENST00000358229.5_Missense_Mutation_p.D87Y|ENPP3_ENST00000543135.1_Missense_Mutation_p.D53Y|ENPP3_ENST00000427148.2_Missense_Mutation_p.D53Y|ENPP3_ENST00000357639.3_Missense_Mutation_p.D87Y			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	87	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGATTTTGAAGACACCTGTGT	0.393																																					p.D87Y													.	ENPP3	117		0			c.G259T												211.0	210.0	211.0					6																	131971271		2203	4300	6503	SO:0001583	missense	5169	exon3			TTTGAAGACACCT	AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.259G>T	6.37:g.131971271G>T	ENSP00000406261:p.Asp87Tyr		Somatic	198	0.0101010101	2		WXS	Illumina HiSeq	Phase_I	250	0.25	63	NM_005021	1	1.00	1	Q5JTL3	Missense_Mutation	SNP	ENST00000414305.1	37	CCDS5148.1	.	.	.	.	.	.	.	.	.	.	G	17.24	3.339834	0.60963	.	.	ENSG00000154269	ENST00000414305;ENST00000357639;ENST00000543135;ENST00000427148;ENST00000358229	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.7	2.99	0.34606	Somatomedin B domain (4);	0.519569	0.19376	N	0.115792	T	0.49372	0.1553	M	0.79258	2.445	0.39660	D	0.97059	D	0.71674	0.998	D	0.69479	0.964	T	0.53563	-0.8421	10	0.87932	D	0	-6.3842	8.7195	0.34432	0.2306:0.0:0.7694:0.0	.	87	O14638	ENPP3_HUMAN	Y	87;87;53;53;87	ENSP00000406261:D87Y;ENSP00000350265:D87Y;ENSP00000440810:D53Y;ENSP00000399269:D53Y;ENSP00000350964:D87Y	ENSP00000350265:D87Y	D	+	1	0	ENPP3	132012964	0.877000	0.30153	0.983000	0.44433	0.990000	0.78478	1.185000	0.32065	0.353000	0.24079	0.557000	0.71058	GAC			0.393	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043627.2			
ZNF12	7559	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	6730638	6730638	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:6730638C>T	ENST00000405858.1	-	5	2476	c.1935G>A	c.(1933-1935)atG>atA	p.M645I	ZNF12_ENST00000342651.5_Missense_Mutation_p.M607I|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.M571I|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	645					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TGAGGTATGACATCCGAGAGA	0.398																																					p.M645I													.	.			0			c.G1935A												92.0	97.0	95.0					7																	6730638		2197	4299	6496	SO:0001583	missense	7559	exon5			GTATGACATCCGA	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1935G>A	7.37:g.6730638C>T	ENSP00000385939:p.Met645Ile		Somatic	114	0	0		WXS	Illumina HiSeq	.	137	0.05	7	NM_016265	82	0.07	6	A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Missense_Mutation	SNP	ENST00000405858.1	37	CCDS47538.1	.	.	.	.	.	.	.	.	.	.	C	9.583	1.124010	0.20959	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476	T;T;T	0.59638	0.25;0.25;0.25	4.18	4.18	0.49190	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49305	D	0.000144	T	0.47507	0.1449	N	0.03238	-0.38	0.29531	N	0.852768	D;P	0.56287	0.975;0.826	D;P	0.66196	0.942;0.491	T	0.41179	-0.9523	10	0.34782	T	0.22	.	8.118	0.30955	0.0:0.8932:0.0:0.1068	.	645;607	P17014;P17014-5	ZNF12_HUMAN;.	I	571;645;607;703	ENSP00000384405:M571I;ENSP00000385939:M645I;ENSP00000344745:M607I	ENSP00000344745:M607I	M	-	3	0	ZNF12	6697163	0.001000	0.12720	1.000000	0.80357	0.962000	0.63368	-0.012000	0.12699	2.624000	0.88883	0.655000	0.94253	ATG			0.398	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000324373.2		NM_016265	
GTF2IP14	106481735	bcgsc.ca	37	7	64559077	64559077	+	IGR	SNP	G	G	A	rs79621273		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:64559077G>A								CCT6P3 (23986 upstream) : INTS4L1 (42525 downstream)																							CCAAAAATTTGAAGGCCATGC	0.478																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			AAATTTGAAGGCC																													7.37:g.64559077G>A			Somatic	18	0.0555555556	1		WXS	Illumina HiSeq	Phase_1	26	0.27	7	.	1	0.00	0		RNA	SNP		37																																																																																					0	0.478										
GTF2IP14	106481735	bcgsc.ca	37	7	64559088	64559088	+	IGR	SNP	G	G	A	rs73369160		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:64559088G>A								CCT6P3 (23997 upstream) : INTS4L1 (42514 downstream)																							AAGGCCATGCGAATGATCTGT	0.483																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CCATGCGAATGAT																													7.37:g.64559088G>A			Somatic	28	0.1428571429	4		WXS	Illumina HiSeq	Phase_1	31	0.29	9	.	1	0.00	0		RNA	SNP		37																																																																																					0	0.483										
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																					.													.	.			0			.																																											0	.			TCTTGCGCAGAAT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T			Somatic	127	0.0078740157	1		WXS	Illumina HiSeq	Phase_I	188	0.03	6	.	18	0.00	0		RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345507.1		NR_003110	
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																					.													.	.			0			.																																											0	.			CCGGGGTCCTTGA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G			Somatic	127	0.0078740157	1		WXS	Illumina HiSeq	Phase_I	183	0.03	6	.	0		0		RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345921.1		NR_002164	
MUC17	140453	hgsc.bcm.edu	37	7	100678866	100678866	+	Missense_Mutation	SNP	A	A	C	rs77700763	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:100678866A>C	ENST00000306151.4	+	3	4233	c.4169A>C	c.(4168-4170)aAt>aCt	p.N1390T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1390	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.N1390T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAAACTCAAATCCTAGTGAA	0.488													N|||	15	0.00299521	0.0061	0.0014	5008	,	,		24993	0.003		0.001	False		,,,				2504	0.002				p.N1390T													MUC17,trunk,malignant_melanoma,0,1	MUC17	0	1	1	Substitution - Missense(1)	skin(1)	c.A4169C												253.0	259.0	257.0					7																	100678866		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTCAAATCCTAG	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4169A>C	7.37:g.100678866A>C	ENSP00000302716:p.Asn1390Thr		Somatic	100	0.01	1		WXS	Illumina HiSeq	.	128	0.06	8	NM_001040105	13	0.00	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.440	-0.898965	0.02472	.	.	ENSG00000169876	ENST00000306151	T	0.02446	4.29	0.73	-0.321	0.12717	.	.	.	.	.	T	0.01029	0.0034	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45760	-0.9239	9	0.02654	T	1	.	1.8779	0.03222	0.3108:0.4468:0.0:0.2423	.	1390	Q685J3	MUC17_HUMAN	T	1390	ENSP00000302716:N1390T	ENSP00000302716:N1390T	N	+	2	0	MUC17	100465586	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.976000	0.01497	-0.737000	0.04824	-3.291000	0.00046	AAT			0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105	
MUC17	140453	hgsc.bcm.edu	37	7	100678918	100678918	+	Silent	SNP	G	G	A	rs200627718|rs71286278	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:100678918G>A	ENST00000306151.4	+	3	4285	c.4221G>A	c.(4219-4221)ccG>ccA	p.P1407P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1407	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCACGCCGGTAGTCAGTT	0.512																																					p.P1407P													MUC17,colon,carcinoma,+1,1	MUC17	1	1	0			c.G4221A												272.0	277.0	276.0					7																	100678918		2203	4300	6503	SO:0001819	synonymous_variant	140453	exon3			CACGCCGGTAGTC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4221G>A	7.37:g.100678918G>A			Somatic	109	0.0183486239	2		WXS	Illumina HiSeq	.	148	0.05	7	NM_001040105	13	0.08	1	O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	CCDS34711.1																																																																																			0.002		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105	
MUC17	140453	broad.mit.edu	37	7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	rs71286276		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1431T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACTTCTGCTGAAGCCAC	0.488																																					p.A1431T													MUC17,NS,carcinoma,0,2	MUC17	804	2	1	Substitution - Missense(1)	kidney(1)	c.G4291A												207.0	222.0	217.0					7																	100678988		2203	4300	6503	SO:0001583	missense	140453	exon3			ACTTCTGCTGAAG	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	144	0.04	6	NM_001040105	13	0.00	0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT			0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105	
CUX1	1523	broad.mit.edu	37	7	101843351	101843351	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:101843351G>T	ENST00000292535.7	+	17	1999	c.1961G>T	c.(1960-1962)gGt>gTt	p.G654V	CUX1_ENST00000546411.2_Splice_Site_p.G552V|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000360264.3_Splice_Site_p.G665V|CUX1_ENST00000549414.2_Splice_Site_p.G632V|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	654					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTCCCCACAGGTAACATCACC	0.552																																					p.G665V													.	CUX1	253		0			c.G1994T												83.0	84.0	84.0					7																	101843351		2203	4300	6503	SO:0001630	splice_region_variant	1523	exon17			CCACAGGTAACAT	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1961-1G>T	7.37:g.101843351G>T			Somatic	161	0	0		WXS	Illumina HiSeq	Phase_I	176	0.03	6	NM_001202543	16	0.00	0	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000292535.7	37	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033158	0.93575	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000546411	T;T;T;T	0.68765	-0.31;-0.28;-0.28;-0.35	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.994;0.993	P;P	0.55391	0.601;0.775	T	0.78097	-0.2337	9	.	.	.	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	654;665	P39880;P39880-3	CUX1_HUMAN;.	V	665;654;632;552	ENSP00000353401:G665V;ENSP00000292535:G654V;ENSP00000446630:G632V;ENSP00000450125:G552V	.	G	+	2	0	CUX1	101630071	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	9.864000	0.99589	2.744000	0.94065	0.561000	0.74099	GGT			0.552	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000347535.1		NM_001913	Missense_Mutation
SSPO	23145	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	7	149513025	149513025	+	RNA	SNP	C	C	A	rs369846479		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr7:149513025C>A	ENST00000378016.2	+	0	10928							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCTGACTGCCCGGACCCTGGG	0.672																																					p.P3643Q													.	.			0			c.C10928A												23.0	28.0	26.0					7																	149513025		1957	4137	6094			23145	exon77			ACTGCCCGGACCC	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149513025C>A			Somatic	164	0	0		WXS	Illumina HiSeq	.	140	0.11	15	NM_198455	2	0.00	0	Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37																																																																																						0.672	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript					
TUSC3	7991	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	15517060	15517060	+	Silent	SNP	A	A	G			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr8:15517060A>G	ENST00000503731.1	+	4	619	c.471A>G	c.(469-471)aaA>aaG	p.K157K	TUSC3_ENST00000506802.1_Silent_p.K157K|TUSC3_ENST00000382020.4_Silent_p.K157K|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000509380.1_Silent_p.K157K	NM_006765.3	NP_006756.2	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	157	Thioredoxin.				cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TTCCTCCAAAAGGCAGACCTA	0.373																																					p.K157K													.	.			0			c.A471G												115.0	107.0	110.0					8																	15517060		2203	4300	6503	SO:0001819	synonymous_variant	7991	exon4			TCCAAAAGGCAGA	AK026149	CCDS5993.1, CCDS5994.1	8p22	2010-10-22			ENSG00000104723	ENSG00000104723			30242	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog A (S. cerevisiae)"""	601385				8661104, 10097140	Standard	NM_178234		Approved	MGC13453, N33, OST3A, MRT7	uc003wwt.3	Q13454	OTTHUMG00000094803	ENST00000503731.1:c.471A>G	8.37:g.15517060A>G			Somatic	72	0	0		WXS	Illumina HiSeq	.	87	0.33	29	NM_178234	387	0.27	103	A8MSM0|D3DSP2|Q14911|Q14912|Q96FW0	Silent	SNP	ENST00000503731.1	37	CCDS5994.1																																																																																					0.373	TUSC3-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000365367.1		NM_006765	
DCAF13	25879	broad.mit.edu	37	8	104439486	104439487	+	Frame_Shift_Ins	INS	-	-	T	rs566617241|rs368195456|rs531567041|rs546695543	byFrequency	TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr8:104439486_104439487insT	ENST00000521971.1	+	4	590_591	c.510_511insT	c.(511-513)tttfs	p.F171fs	DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.F207fs|DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000297579.5_Intron			Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	211					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGAGGTAATGTTTTTTTTTAA	0.277													TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion	12	0.00239617	0.0083	0.0	5008	,	,		16529	0.0		0.0	False		,,,				2504	0.001				.													.	DCAF13	66		0			.																																									SO:0001589	frameshift_variant	25879	.			GGTAATGTTTTTT	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000521971.1:c.519dupT	8.37:g.104439495_104439495dupT	ENSP00000430883:p.Phe171fs		Somatic	173	0	0		WXS	Illumina HiSeq	Phase_I	272	0.00	0	.	2	0.00	0	Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Frame_Shift_Ins	INS	ENST00000521971.1	37																																																																																						0.277	DCAF13-003	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000380799.2		NM_015420	
HAUS6	54801	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	9	19050445	19050453	+	IGR	DEL	TCGACATCT	TCGACATCT	-			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	TCGACATCT	TCGACATCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr9:19050445_19050453delTCGACATCT	ENST00000380502.3	-	0	6536				RRAGA_ENST00000380527.1_In_Frame_Del_p.DIF264del	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCTTTCATCGACATCTTCACCTCAAA	0.474																																					p.263_265del													.	RRAGA	17		0			c.787_795del																																									SO:0001628	intergenic_variant	10670	exon1			CTTTCATCGACAT	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622		9.37:g.19050445_19050453delTCGACATCT			Somatic	109	0	0		WXS	Illumina HiSeq	.	104	0.51	53	NM_006570	168	0.00	0	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	In_Frame_Del	DEL	ENST00000380502.3	37	CCDS6489.1																																																																																					0.474	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051825.1		NM_017645	
Unknown	0	bcgsc.ca	37	9	45376198	45376198	+	IGR	SNP	G	G	A	rs146422224		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr9:45376198G>A								RP11-449H15.2 (163697 upstream) : RP11-187C18.5 (17646 downstream)																							CATCCGGCTCGCGGACCAAAC	0.532																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	441420	.			CGGCTCGCGGACC																													9.37:g.45376198G>A			Somatic	59	0	0		WXS	Illumina HiSeq	Phase_1	31	0.26	8	.	0		0		RNA	SNP		37																																																																																					0	0.532										
FBXW5	54461	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	139835465	139835465	+	Missense_Mutation	SNP	C	C	T	rs140846203		TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chr9:139835465C>T	ENST00000325285.3	-	9	1695	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	539					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GCGTGGGGAGCGCCAGGCTTT	0.667																																					p.R539H													FBXW5,NS,carcinoma,-1,1	FBXW5	-1	1	0			c.G1616A							C	HIS/ARG	0,4290		0,0,2145	69.0	61.0	64.0		1616	4.6	1.0	9	dbSNP_134	64	1,8453		0,1,4226	no	missense	FBXW5	NM_018998.2	29	0,1,6371	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging	539/567	139835465	1,12743	2145	4227	6372	SO:0001583	missense	54461	exon9			GGGGAGCGCCAGG	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1616G>A	9.37:g.139835465C>T	ENSP00000313034:p.Arg539His		Somatic	66	0	0		WXS	Illumina HiSeq	.	92	0.30	28	NM_018998	298	0.32	94	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874046	0.91664	0.0	1.18E-4	ENSG00000159069	ENST00000325285	T	0.66638	-0.22	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);WD40-repeat-containing domain (1);	0.063203	0.64402	D	0.000004	T	0.74764	0.3759	L	0.38649	1.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.945	T	0.77661	-0.2504	10	0.62326	D	0.03	-0.5139	16.0315	0.80582	0.0:1.0:0.0:0.0	.	404;539	Q59ET5;Q969U6	.;FBXW5_HUMAN	H	539	ENSP00000313034:R539H	ENSP00000313034:R539H	R	-	2	0	FBXW5	138955286	1.000000	0.71417	0.999000	0.59377	0.882000	0.50991	7.109000	0.77062	2.126000	0.65437	0.561000	0.74099	CGC	0		0.667	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055227.1		NM_018998	
MT-CO1	4512	hgsc.bcm.edu	37	M	5552	5552	+	5'Flank	SNP	C	C	T			TCGA-2G-AAFJ-01A-11D-A42Y-10	TCGA-2G-AAFJ-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7ec7db5-2a0a-4300-aedc-f26b90255648	5bc449b5-fc22-49d0-9145-887f4c16e2ea	g.chrM:5552C>T	ENST00000361624.2	+	0	0				MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TL1_ENST00000386347.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCTTCAAAGCCCTCAGTAAGT	0.403																																					.													.	.			0			.																																									SO:0001631	upstream_gene_variant	0	.			AAAGCCCTCAGTA			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.5552C>T	Exception_encountered		Somatic	101	0	0		WXS	Illumina HiSeq	.	112	0.90	101	.	0		0	Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.403	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				YP_003024028	
