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	X1000Genome_AA	X1000Genome_AC	X1000Genome_AF	X1000Genome_AFR_AF	X1000Genome_AMR_AF	X1000Genome_AN	X1000Genome_ASN_AF	X1000Genome_AVGPOST	X1000Genome_CIEND	X1000Genome_CIPOS	X1000Genome_END	X1000Genome_ERATE	X1000Genome_EUR_AF	X1000Genome_HOMLEN	X1000Genome_HOMSEQ	X1000Genome_LDAF	X1000Genome_RSQ	X1000Genome_SNPSOURCE	X1000Genome_SVLEN	X1000Genome_SVTYPE	X1000Genome_THETA	X1000Genome_VT	ACHILLES_Lineage_Results_Top_Genes	CGC_Cancer.Germline.Mut	CGC_Cancer.Molecular.Genetics	CGC_Cancer.Somatic.Mut	CGC_Cancer.Syndrome	CGC_Chr	CGC_Chr.Band	CGC_GeneID	CGC_Name	CGC_Other.Germline.Mut	CGC_Tissue.Type	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	COSMIC_overlapping_primary_sites	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	ESP_AA	ESP_AAC	ESP_AA_AC	ESP_AA_AGE	ESP_AA_GTC	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_CA	ESP_CDP	ESP_CG	ESP_CP	ESP_Chromosome	ESP_DBSNP	ESP_DP	ESP_EA_AC	ESP_EA_AGE	ESP_EA_GTC	ESP_EXOME_CHIP	ESP_FG	ESP_GL	ESP_GM	ESP_GS	ESP_GTC	ESP_GTS	ESP_GWAS_PUBMED	ESP_MAF	ESP_PH	ESP_PP	ESP_Position	ESP_TAC	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	HGNC_Accession.Numbers	HGNC_CCDS.IDs	HGNC_Chromosome	HGNC_Date.Modified	HGNC_Date.Name.Changed	HGNC_Date.Symbol.Changed	HGNC_Ensembl.Gene.ID	HGNC_Ensembl.ID.supplied.by.Ensembl.	HGNC_Entrez.Gene.ID	HGNC_Entrez.Gene.ID.supplied.by.NCBI.	HGNC_Enzyme.IDs	HGNC_Gene.family.description	HGNC_HGNC.ID	HGNC_Locus.Group	HGNC_Locus.Type	HGNC_Name.Synonyms	HGNC_OMIM.ID.supplied.by.NCBI.	HGNC_Previous.Names	HGNC_Previous.Symbols	HGNC_Primary.IDs	HGNC_Pubmed.IDs	HGNC_Record.Type	HGNC_RefSeq.IDs	HGNC_RefSeq.supplied.by.NCBI.	HGNC_Secondary.IDs	HGNC_Status	HGNC_Synonyms	HGNC_UCSC.ID.supplied.by.UCSC.	HGNC_UniProt.ID.supplied.by.UniProt.	HGNC_VEGA.IDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	ORegAnno_bin	UniProt_alt_uniprot_accessions	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP.._NR	dbNSFP_GERP.._RS	dbNSFP_GERP.._RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_fold.degenerate	dbNSFP_genename	dbNSFP_hg18_pos.1.coor.	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_id	gene_type	havana_transcript	secondary_variant_classification	strand	transcript_id	variant_classification	variant_type	key	t_ref_count	t_alt_count
ALS2	57679	broad.mit.edu	37	2	202589136	202589136	+	Missense_Mutation	SNP	G	G	A	rs149670991	by1000genomes	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:202589136G>A	ENST00000264276.6	-	21	3766	c.3394C>T	c.(3394-3396)Cgt>Tgt	p.R1132C	ALS2_ENST00000457679.2_Missense_Mutation_p.R444C	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1132					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGACCATGACGCATATTATCT	0.413		NA											G	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.876	LOWCOV,EXOME	NA	NA	5e-04	SNP								NA				0													186	164	171			NA	NA	2		NA											NA				202589136		1901	4131	6032	SO:0001583	missense			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393	57679	57679		Rho guanine nucleotide exchange factors	443	protein-coding gene	gene with protein product	alsin	606352	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6	ALS2CR6	NA	11586298	Standard	NM_020919	NM_020919	NA	Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.3394C>T	2.37:g.202589136G>A	ENSP00000264276:p.Arg1132Cys	NA	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	37	CCDS42800.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	27.0	4.792192	0.90453	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.50001	0.76;0.76	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.71609	-0.4541	10	0.66056	D	0.02	.	15.0971	0.72244	0.0:0.0:0.8584:0.1416	.	1132;1132	Q6IQ41;Q96Q42	.;ALS2_HUMAN	C	1132;444	ENSP00000264276:R1132C;ENSP00000394823:R444C	ENSP00000264276:R1132C	R	-	1	0	ALS2	202297381	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.305000	0.72805	2.805000	0.96524	0.655000	0.94253	CGT	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000335562.3		-	ENST00000264276.6	Missense_Mutation	SNP	2 : 202589136 - 202589136 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	535	6
AMPD2	271	broad.mit.edu	37	1	110172900	110172900	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110172900G>A	ENST00000256578.3	+	16	2551	c.2191G>A	c.(2191-2193)Gcc>Acc	p.A731T	AMPD2_ENST00000528454.1_Missense_Mutation_p.A613T|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.A656T|AMPD2_ENST00000528667.1_Missense_Mutation_p.A731T|AMPD2_ENST00000342115.4_Missense_Mutation_p.A650T|AMPD2_ENST00000393688.3_Missense_Mutation_p.A612T|RP5-1160K1.6_ENST00000369843.3_RNA	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	731					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GATCGGCATCGCCATGTCTCC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	144	144			NA	NA	1		NA											NA				110172900		2203	4300	6503	SO:0001583	missense			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	271	271	3.5.4.6		469	protein-coding gene	gene with protein product	AMPD isoform L	102771	adenosine monophosphate deaminase 2 (isoform L)		NA	1400401, 24482476	Standard		NM_004037	NA	Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.2191G>A	1.37:g.110172900G>A	ENSP00000256578:p.Ala731Thr	NA	B4DZI5|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	37	CCDS805.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.324955|5.324955	0.95708|0.95708	.|.	.|.	ENSG00000116337|ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688|ENST00000369840	D;D;D;D;D;D|.	0.83335|.	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Adenosine/AMP deaminase (1);|.	0.102270|.	0.64402|.	D|.	0.000003|.	T|T	0.67344|0.67344	0.2883|0.2883	M|M	0.69358|0.69358	2.11|2.11	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.993;0.989;0.999|.	D;P;P;P|.	0.85130|.	0.997;0.739;0.705;0.873|.	T|T	0.66999|0.66999	-0.5781|-0.5781	10|5	0.54805|.	T|.	0.06|.	-24.088|-24.088	17.3347|17.3347	0.87277|0.87277	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656;612;731;650|.	Q01433-4;Q01433-3;Q01433;Q01433-2|.	.;.;AMPD2_HUMAN;.|.	T|H	650;731;731;656;613;612|701	ENSP00000345498:A650T;ENSP00000436541:A731T;ENSP00000256578:A731T;ENSP00000351573:A656T;ENSP00000437164:A613T;ENSP00000377292:A612T|.	ENSP00000256578:A731T|.	A|R	+|+	1|2	0|0	AMPD2|AMPD2	109974423|109974423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.780000|0.780000	0.44128|0.44128	9.595000|9.595000	0.98260|0.98260	2.424000|2.424000	0.82194|0.82194	0.561000|0.561000	0.74099|0.74099	GCC|CGC	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390615.1		+	ENST00000256578.3	Missense_Mutation	SNP	1 : 110172900 - 110172900 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	385	6
ASB8	140461	broad.mit.edu	37	12	48543613	48543613	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:48543613G>A	ENST00000317697.3	-	4	572	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	ASB8_ENST00000536549.1_Missense_Mutation_p.R135W|ASB8_ENST00000535055.1_3'UTR|ASB8_ENST00000537754.1_5'UTR|ASB8_ENST00000536953.1_3'UTR|ASB8_ENST00000539528.1_3'UTR	NM_024095.3	NP_077000.1	Q9H765	ASB8_HUMAN	ankyrin repeat and SOCS box containing 8	135					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						AGGAGAGCCCGCACACACTCA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	65	68			NA	NA	12		NA											NA				48543613		2203	4300	6503	SO:0001583	missense			AK024908	CCDS8761.1	12q13.12	2013-01-10	2011-01-25			ENSG00000177981	NA	140461		Ankyrin repeat domain containing	17183	protein-coding gene	gene with protein product		615053	ankyrin repeat and SOCS box-containing 8		NA	12076535	Standard		NM_024095	NA	Approved	MGC5540, FLJ21255	uc001rrh.3	Q9H765		ENST00000317697.3:c.403C>T	12.37:g.48543613G>A	ENSP00000320893:p.Arg135Trp	NA	A8K1P2|Q547Q2	37	CCDS8761.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777296	0.70107	.	.	ENSG00000177981	ENST00000317697;ENST00000536549	T;T	0.66815	-0.23;-0.23	5.05	3.09	0.35607	Ankyrin repeat-containing domain (4);	0.108843	0.64402	D	0.000011	T	0.78923	0.4360	M	0.86573	2.825	0.80722	D	1	D	0.67145	0.996	P	0.54815	0.761	D	0.84401	0.0560	10	0.87932	D	0	-13.8627	14.1986	0.65686	0.0:0.0:0.7318:0.2682	.	135	Q9H765	ASB8_HUMAN	W	135	ENSP00000320893:R135W;ENSP00000445622:R135W	ENSP00000320893:R135W	R	-	1	2	ASB8	46829880	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.878000	0.56130	1.261000	0.44149	0.561000	0.74099	CGG	ASB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396497.1		-	ENST00000317697.3	Missense_Mutation	SNP	12 : 48543613 - 48543613 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	196	4
ATRX	546	broad.mit.edu	37	X	76938955	76938955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chrX:76938955G>A	ENST00000373344.5	-	9	2007	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S560F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	598					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTAATTGGGGAATTAGAAAG	0.358		NA	Mis, F, N		Pancreatic neuroendocrine tumors, paediatric GBM		ATR-X (alpha thalassemia/mental retardation) syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											194	222	213			NA	NA	X		NA											NA				76938955		2203	4296	6499	SO:0001583	missense			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224	546	546			886	protein-coding gene	gene with protein product	RAD54 homolog (S. cerevisiae)	300032	alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog), Juberg-Marsidi syndrome	RAD54, JMS	NA	7874112, 1415255, 8503439, 8630485	Standard	NM_000489	NM_000489	NA	Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1793C>T	X.37:g.76938955G>A	ENSP00000362441:p.Ser598Phe	NA	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	12.65	2.001168	0.35320	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93019	-3.13;-3.15	5.22	5.22	0.72569	.	0.000000	0.52532	D	0.000066	D	0.95774	0.8625	L	0.53249	1.67	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.78314	0.939;0.991	D	0.96302	0.9222	10	0.72032	D	0.01	-2.9111	17.9679	0.89105	0.0:0.0:1.0:0.0	.	560;598	P46100-4;P46100	.;ATRX_HUMAN	F	598;560	ENSP00000362441:S598F;ENSP00000378967:S560F	ENSP00000362441:S598F	S	-	2	0	ATRX	76825611	1.000000	0.71417	0.987000	0.45799	0.962000	0.63368	4.326000	0.59241	2.177000	0.69029	0.509000	0.49947	TCC	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058860.2		-	ENST00000373344.5	Missense_Mutation	SNP	X : 76938955 - 76938955 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	1573	521
ATXN7L2	127002	broad.mit.edu	37	1	110032901	110032901	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:110032901C>T	ENST00000369870.3	+	9	1260	c.1245C>T	c.(1243-1245)acC>acT	p.T415T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	415										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGTTCTGCACCTTTGGGAGCC	0.597		NA									OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	94	97			NA	NA	1		NA											NA				110032901		2203	4300	6503	SO:0001819	synonymous_variant			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650	127002	127002			28713	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_153340	NM_153340	NA	Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1245C>T	1.37:g.110032901C>T		1424		37	CCDS30794.1																																																																																			ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000030331.1		+	ENST00000369870.3	Silent	SNP	1 : 110032901 - 110032901 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	282	6
BANP	54971	broad.mit.edu	37	16	88061097	88061097	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:88061097T>C	ENST00000393207.1	+	8	1101	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	BANP_ENST00000355022.4_Missense_Mutation_p.F263L|BANP_ENST00000355163.5_Missense_Mutation_p.F269L|BANP_ENST00000393208.2_Missense_Mutation_p.F263L|BANP_ENST00000479780.2_Missense_Mutation_p.F263L|BANP_ENST00000286122.7_Missense_Mutation_p.F294L|BANP_ENST00000538234.1_Missense_Mutation_p.F302L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	294	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGGTCACCTTTTCTATAAATT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	67	66			NA	NA	16		NA											NA				88061097		2198	4300	6498	SO:0001583	missense			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530	54971	54971		BEN domain containing	13450	protein-coding gene	gene with protein product	BEN domain containing 1	611564			NA	10940556, 10950932	Standard	NM_017869	NM_017869	NA	Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.880T>C	16.37:g.88061097T>C	ENSP00000376902:p.Phe294Leu	NA	A8MU25|A8MX25|Q96GJ7|Q9NWY1	37	CCDS54054.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.049507	0.75846	.	.	ENSG00000172530	ENST00000286122;ENST00000355163;ENST00000289484;ENST00000479780;ENST00000393208;ENST00000540932;ENST00000355022;ENST00000538234;ENST00000393207	T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.5	5.5	0.81552	BEN domain (2);	0.000000	0.85682	D	0.000000	T	0.34106	0.0886	N	0.14661	0.345	0.58432	D	0.999999	P;D;D;D;P;D	0.65815	0.951;0.973;0.963;0.995;0.954;0.993	P;P;D;D;D;D	0.77557	0.696;0.872;0.966;0.989;0.916;0.99	T	0.26538	-1.0100	10	0.51188	T	0.08	-0.7334	14.7894	0.69827	0.0:0.0:0.0:1.0	.	302;269;263;294;263;263	B4DE54;B4DNJ9;B2RCF7;Q8N9N5;Q8N9N5-2;Q8N9N5-4	.;.;.;BANP_HUMAN;.;.	L	294;269;259;263;263;263;263;302;294	ENSP00000286122:F294L;ENSP00000347290:F269L;ENSP00000432508:F263L;ENSP00000376903:F263L;ENSP00000347125:F263L;ENSP00000444352:F302L;ENSP00000376902:F294L	ENSP00000286122:F294L	F	+	1	0	BANP	86618598	1.000000	0.71417	0.923000	0.36655	0.252000	0.25951	7.305000	0.78891	2.090000	0.63153	0.379000	0.24179	TTC	BANP-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269166.1		+	ENST00000393207.1	Missense_Mutation	SNP	16 : 88061097 - 88061097 C PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	360	110
BCL7A	605	broad.mit.edu	37	12	122492809	122492809	+	Missense_Mutation	SNP	G	G	A	rs148056282		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:122492809G>A	ENST00000261822.4	+	5	744	c.538G>A	c.(538-540)Gca>Aca	p.A180T	BCL7A_ENST00000538010.1_Missense_Mutation_p.A180T	NM_001024808.1	NP_001019979.1	Q4VC05	BCL7A_HUMAN	B-cell CLL/lymphoma 7A	180					negative regulation of transcription, DNA-dependent					haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231)		GGGTCTGGCCGCAGAGACGTC	0.567		NA	T	MYC	BNHL						OREG0022214	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(17;197 467 16477 23242 44349)		Dom	yes		12	12q24.1	605	B-cell CLL/lymphoma 7A		L	0								G	THR/ALA,THR/ALA	0,4406		0,0,2203	70	77	74		538,538	0.1	0	12	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BCL7A	NM_001024808.1,NM_020993.3	58,58	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	benign,benign	180/211,180/232	122492809	1,13005	2203	4300	6503	SO:0001583	missense			X89984	CCDS9226.1, CCDS53841.1	12q24.1	2008-07-03			ENSG00000110987	ENSG00000110987	605	605			1004	protein-coding gene	gene with protein product		601406		BCL7	NA	8605326, 9931421	Standard		NM_020993	NA	Approved		uc001ubo.3	Q4VC05	OTTHUMG00000168951	ENST00000261822.4:c.538G>A	12.37:g.122492809G>A	ENSP00000261822:p.Ala180Thr	1519	B4DJN6|B7ZB21|Q13843|Q14CT7	37	CCDS53841.1	.	.	.	.	.	.	.	.	.	.	G	0.318	-0.963497	0.02249	0.0	1.16E-4	ENSG00000110987	ENST00000538010;ENST00000261822	T;T	0.44083	0.93;1.01	6.07	0.0514	0.14297	.	0.533452	0.21468	N	0.074043	T	0.12774	0.0310	N	0.02539	-0.55	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.08055	0.003;0.002	T	0.28299	-1.0048	10	0.08837	T	0.75	.	5.2306	0.15420	0.4794:0.0:0.3844:0.1362	.	180;180	Q4VC05;Q4VC05-2	BCL7A_HUMAN;.	T	180	ENSP00000445868:A180T;ENSP00000261822:A180T	ENSP00000261822:A180T	A	+	1	0	BCL7A	120977192	0.318000	0.24598	0.000000	0.03702	0.001000	0.01503	0.660000	0.25009	-0.097000	0.12307	-0.137000	0.14449	GCA	BCL7A-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000401712.1		+	ENST00000261822.4	Missense_Mutation	SNP	12 : 122492809 - 122492809 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	293	6
CBFB	865	broad.mit.edu	37	16	67070587	67070587	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr16:67070587G>A	ENST00000290858.6	+	3	472	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	CBFB_ENST00000561924.2_5'UTR|CBFB_ENST00000412916.2_Missense_Mutation_p.A71T	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	71					transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTTTTTTCCGGCCAGCTGGCA	0.423		NA	T	MYH11	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		16	16q22	865	core-binding factor, beta subunit		L	0													85	86	86			NA	NA	16		NA											NA				67070587		2200	4300	6500	SO:0001583	missense			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955	865	865			1539	protein-coding gene	gene with protein product		121360			NA	8351518, 7587111	Standard	NM_001755	NM_001755	NA	Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.211G>A	16.37:g.67070587G>A	ENSP00000290858:p.Ala71Thr	NA	A8K347|Q13124|Q9HCT2	37	CCDS10827.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115638	0.56505	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.05	5.05	0.67936	.	0.054238	0.64402	D	0.000001	T	0.74489	0.3723	L	0.58101	1.795	0.80722	D	1	P;D	0.58268	0.547;0.982	B;D	0.70935	0.361;0.971	T	0.69584	-0.5106	9	0.22109	T	0.4	-2.3241	17.3257	0.87246	0.0:0.0:1.0:0.0	.	71;71	Q13951-2;Q13951	.;PEBB_HUMAN	T	71	.	ENSP00000290858:A71T	A	+	1	0	CBFB	65628088	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.171000	0.94802	2.498000	0.84270	0.561000	0.74099	GCC	CBFB-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268843.2		+	ENST00000290858.6	Missense_Mutation	SNP	16 : 67070587 - 67070587 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	485	6
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	NA							ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Unknown(2)	lung(2)											44	70	61			NA	NA	9		NA											NA				164038		1423	2635	4058	SO:0001630	splice_region_variant			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785	55871	55871			17134	protein-coding gene	gene with protein product		611078			NA	15233989, 12421752	Standard	NM_018491	NM_018491	NA	Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000377447.3:c.431-1G>C	9.37:g.164038C>G		NA	A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	37		.	.	.	.	.	.	.	.	.	.	C	17.11	3.304448	0.60305	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447;ENST00000431099;ENST00000377347	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6706	0.77270	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CBWD1	154038	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.833000	0.75334	2.049000	0.60858	0.549000	0.68633	.	CBWD1-017	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000051472.1	Intron	-	ENST00000377447.3	Splice_Site	SNP	9 : 164038 - 164038 G PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	840	6
CCNA1	8900	broad.mit.edu	37	13	37012789	37012789	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr13:37012789C>T	ENST00000255465.4	+	5	942	c.678C>T	c.(676-678)caC>caT	p.H226H	CCNA1_ENST00000418263.1_Silent_p.H225H|CCNA1_ENST00000440264.1_Silent_p.H182H|CCNA1_ENST00000449823.1_Silent_p.H182H			P78396	CCNA1_HUMAN	cyclin A1	226					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATAAGGCACAGACCCAAAG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													88	78	82			NA	NA	13		NA											NA				37012789		2203	4300	6503	SO:0001819	synonymous_variant			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101	8900	8900			1577	protein-coding gene	gene with protein product		604036			NA	9041194	Standard	NM_003914	NM_003914	NA	Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.678C>T	13.37:g.37012789C>T		NA	Q5T3V0|Q5U0G2|Q8IY91	37	CCDS9357.1																																																																																			CCNA1-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044514.2		+	ENST00000255465.4	Silent	SNP	13 : 37012789 - 37012789 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	152	44
CHML	1122	broad.mit.edu	37	1	241797637	241797637	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:241797637T>C	ENST00000366553.1	-	1	1595	c.1432A>G	c.(1432-1434)Ata>Gta	p.I478V	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	478					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GGAGGAACTATCAGAATGGAA	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	94	94			NA	NA	1		NA											NA				241797637		2203	4299	6502	SO:0001583	missense			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668	1122	1122			1941	protein-coding gene	gene with protein product		118825			NA	7981670	Standard	NM_001821	NM_001821	NA	Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1432A>G	1.37:g.241797637T>C	ENSP00000355511:p.Ile478Val	NA	B2RAB9|Q17RE0|Q9H1Y4	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	T	6.570	0.473395	0.12461	.	.	ENSG00000203668	ENST00000366553	D	0.82167	-1.58	5.08	0.907	0.19321	.	0.297564	0.35013	N	0.003520	T	0.66954	0.2842	.	.	.	0.21147	N	0.999771	B	0.02656	0.0	B	0.09377	0.004	T	0.53236	-0.8467	9	0.42905	T	0.14	-1.3604	0.6338	0.00799	0.164:0.2371:0.1696:0.4293	.	478	P26374	RAE2_HUMAN	V	478	ENSP00000355511:I478V	ENSP00000355511:I478V	I	-	1	0	CHML	239864260	0.971000	0.33674	0.988000	0.46212	0.919000	0.55068	1.313000	0.33585	0.059000	0.16252	-0.313000	0.08912	ATA	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000095712.1		-	ENST00000366553.1	Missense_Mutation	SNP	1 : 241797637 - 241797637 C PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	446	33
CSF2RB	1439	broad.mit.edu	37	22	37326748	37326748	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:37326748G>A	ENST00000403662.3	+	8	1110	c.888G>A	c.(886-888)ggG>ggA	p.G296G	CSF2RB_ENST00000406230.1_Silent_p.G302G|CSF2RB_ENST00000262825.5_Silent_p.G302G|CSF2RB_ENST00000536485.1_Silent_p.G243G			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	296					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TGAGGGAGGGGCTCGGCAGCC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	40	41			NA	NA	22		NA											NA				37326748		2203	4300	6503	SO:0001819	synonymous_variant			M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368	1439	1439		CD molecules, Fibronectin type III domain containing	2436	protein-coding gene	gene with protein product		138981		IL3RB	NA	1833064, 1424804	Standard	NM_000395	NM_000395	NA	Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.888G>A	22.37:g.37326748G>A		NA	Q5JZI1|Q6ICE0	37	CCDS13936.1																																																																																			CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318854.1		+	ENST00000403662.3	Silent	SNP	22 : 37326748 - 37326748 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	198	50
DBF4B	80174	broad.mit.edu	37	17	42828492	42828492	+	Silent	SNP	G	G	A	rs148114647	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:42828492G>A	ENST00000315005.3	+	14	1857	c.1719G>A	c.(1717-1719)ccG>ccA	p.P573P	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	573					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTCACATCCGTGTACCCTTG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	2,4404	4.2+/-10.8	0,2,2201	126	106	113		,1719	-4.8	0	17	dbSNP_134	113	5,8595	4.3+/-15.6	0,5,4295	no	intron,coding-synonymous	DBF4B	NM_025104.3,NM_145663.2	,	0,7,6496	AA,AG,GG	NA	0.0581,0.0454,0.0538	,	,573/616	42828492	7,12999	2203	4300	6503	SO:0001819	synonymous_variant			AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692	80174	80174		Zinc fingers, DBF-type	17883	protein-coding gene	gene with protein product	chiffon homolog B (Drosophila), zinc finger, DBF-type containing 1B	611661	DBF4 homolog B (S. cerevisiae)		NA	15668232	Standard	NM_025104	NM_145663	NA	Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.1719G>A	17.37:g.42828492G>A		NA	D3DX56|Q8TEX0|Q96B19|Q9H912	37	CCDS11485.1																																																																																			DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000385930.1		+	ENST00000315005.3	Silent	SNP	17 : 42828492 - 42828492 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	632	117
DTL	51514	broad.mit.edu	37	1	212209261	212209261	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209261C>G	ENST00000366991.4	+	1	343	c.29C>G	c.(28-30)cCc>cGc	p.P10R	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Missense_Mutation_p.P10R	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CTCCGCCAGCCCCAGCTTGGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	57	60			NA	NA	1		NA											NA				212209261		2203	4300	6503	SO:0001583	missense			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476	51514	51514		DDB1 and CUL4 associated factors, WD repeat domain containing	30288	protein-coding gene	gene with protein product	RA regulated nuclear matrix associated protein, DDB1 and CUL4 associated factor 2	610617	denticleless homolog (Drosophila)		NA	11278750	Standard	NM_016448	NM_001286229	NA	Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.29C>G	1.37:g.212209261C>G	ENSP00000355958:p.Pro10Arg	NA	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	37	CCDS1502.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417373	0.83449	.	.	ENSG00000143476	ENST00000366991;ENST00000542077;ENST00000420235	T;T	0.71103	-0.5;-0.54	5.63	5.63	0.86233	.	0.118711	0.56097	D	0.000025	T	0.81884	0.4917	M	0.64997	1.995	0.40200	D	0.977506	D;P	0.89917	1.0;0.944	D;P	0.87578	0.998;0.587	T	0.82438	-0.0457	10	0.51188	T	0.08	-13.6374	15.2097	0.73209	0.0:1.0:0.0:0.0	.	10;10	F5GZ90;Q9NZJ0	.;DTL_HUMAN	R	10	ENSP00000355958:P10R;ENSP00000443870:P10R	ENSP00000355958:P10R	P	+	2	0	DTL	210275884	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.185000	0.50934	2.652000	0.90054	0.655000	0.94253	CCC	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090182.1		+	ENST00000366991.4	Missense_Mutation	SNP	1 : 212209261 - 212209261 G PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	157	44
DTL	51514	broad.mit.edu	37	1	212209262	212209262	+	Silent	SNP	C	C	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:212209262C>G	ENST00000366991.4	+	1	344	c.30C>G	c.(28-30)ccC>ccG	p.P10P	DTL_ENST00000475419.1_3'UTR|DTL_ENST00000542077.1_Silent_p.P10P	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	10					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCCGCCAGCCCCAGCTTGGCG	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	57	59			NA	NA	1		NA											NA				212209262		2203	4300	6503	SO:0001819	synonymous_variant			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476	51514	51514		DDB1 and CUL4 associated factors, WD repeat domain containing	30288	protein-coding gene	gene with protein product	RA regulated nuclear matrix associated protein, DDB1 and CUL4 associated factor 2	610617	denticleless homolog (Drosophila)		NA	11278750	Standard	NM_016448	NM_001286229	NA	Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.30C>G	1.37:g.212209262C>G		NA	A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	37	CCDS1502.1																																																																																			DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000090182.1		+	ENST00000366991.4	Silent	SNP	1 : 212209262 - 212209262 G PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	158	45
ESRRG	2104	broad.mit.edu	37	1	216680448	216680448	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:216680448C>A	ENST00000366937.1	-	8	1512	c.1246G>T	c.(1246-1248)Gct>Tct	p.A416S	ESRRG_ENST00000361525.3_Missense_Mutation_p.A381S|ESRRG_ENST00000391890.3_Missense_Mutation_p.A388S|ESRRG_ENST00000359162.2_Missense_Mutation_p.A381S|ESRRG_ENST00000366938.2_Missense_Mutation_p.A381S|ESRRG_ENST00000487276.1_Missense_Mutation_p.A381S|ESRRG_ENST00000493603.1_Missense_Mutation_p.A381S|ESRRG_ENST00000493748.1_Missense_Mutation_p.A381S|ESRRG_ENST00000366940.2_Missense_Mutation_p.A381S|ESRRG_ENST00000360012.3_Missense_Mutation_p.A381S|ESRRG_ENST00000361395.2_Missense_Mutation_p.A381S|ESRRG_ENST00000463665.1_Missense_Mutation_p.A342S|ESRRG_ENST00000408911.3_Missense_Mutation_p.A404S	NM_001243518.1	NP_001230447.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	404					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TGCTGGCCAGCTTCATAATCC	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													114	101	106			NA	NA	1		NA											NA				216680448		2203	4300	6503	SO:0001583	missense			AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482	2104	2104		Nuclear hormone receptors	3474	protein-coding gene	gene with protein product		602969			NA	9676434, 10072763	Standard	NM_206595	NM_001243505	NA	Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000366937.1:c.1246G>T	1.37:g.216680448C>A	ENSP00000355904:p.Ala416Ser	NA	A8K4I0|A8K6I2|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	37	CCDS58061.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847181	0.32606	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748	D;D;D;D;D;D;D;D;D;D;D;D;D	0.96427	-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01;-4.01	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.047654	0.85682	D	0.000000	D	0.91633	0.7356	N	0.12569	0.235	0.80722	D	1	B;B;B	0.10296	0.0;0.002;0.003	B;B;B	0.15052	0.008;0.012;0.012	D	0.86965	0.2094	10	0.19590	T	0.45	.	19.652	0.95819	0.0:1.0:0.0:0.0	.	342;416;404	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	S	381;381;416;404;381;381;381;381;381;388;342;381;381;381	ENSP00000355225:A381S;ENSP00000355907:A381S;ENSP00000355904:A416S;ENSP00000386171:A404S;ENSP00000352077:A381S;ENSP00000354584:A381S;ENSP00000355905:A381S;ENSP00000353108:A381S;ENSP00000419594:A381S;ENSP00000375761:A388S;ENSP00000418629:A342S;ENSP00000419155:A381S;ENSP00000417374:A381S	ENSP00000346386:A381S	A	-	1	0	ESRRG	214747071	1.000000	0.71417	0.973000	0.42090	0.976000	0.68499	4.892000	0.63193	2.656000	0.90262	0.561000	0.74099	GCT	ESRRG-006	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000089881.4		-	ENST00000366937.1	Missense_Mutation	SNP	1 : 216680448 - 216680448 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	439	8
FAT4	79633	broad.mit.edu	37	4	126372375	126372375	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:126372375C>T	ENST00000394329.3	+	9	10217	c.10204C>T	c.(10204-10206)Ccc>Tcc	p.P3402S	FAT4_ENST00000335110.5_Missense_Mutation_p.P1700S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3402	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGACCCACCCATTTTTAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	176	179			NA	NA	4		NA											NA				126372375		2203	4300	6503	SO:0001583	missense			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159	79633	79633		Cadherins / Cadherin-related	23109	protein-coding gene	gene with protein product	cadherin-related family member 11	612411	FAT tumor suppressor homolog 4 (Drosophila)		NA	15003449	Standard	NM_024582	NM_024582	NA	Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.10204C>T	4.37:g.126372375C>T	ENSP00000377862:p.Pro3402Ser	NA	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	37	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665933	0.67700	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.84800	-1.9;-1.9	5.14	5.14	0.70334	Cadherin (3);Cadherin-like (1);	0.000000	0.34362	U	0.004026	D	0.95500	0.8538	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.97;0.998	D	0.97250	0.9897	10	0.87932	D	0	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	1700;3402;3402	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	S	3402;1700	ENSP00000377862:P3402S;ENSP00000335169:P1700S	ENSP00000335169:P1700S	P	+	1	0	FAT4	126591825	1.000000	0.71417	0.944000	0.38274	0.741000	0.42261	7.662000	0.83803	2.392000	0.81423	0.561000	0.74099	CCC	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256765.2		+	ENST00000394329.3	Missense_Mutation	SNP	4 : 126372375 - 126372375 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	616	12
FGF18	8817	broad.mit.edu	37	5	170876235	170876235	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:170876235G>A	ENST00000274625.5	+	4	879	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	112					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCATGAACCGCAAAGGCAAG	0.567		NA											g	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	5e-04	SNP								NA				0													112	89	97			NA	NA	5		NA											NA				170876235		2203	4300	6503	SO:0001583	missense			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427	8817	8817			3674	protein-coding gene	gene with protein product		603726			NA	9660775, 9742123	Standard	NM_033649, NM_003862	NM_003862	NA	Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.335G>A	5.37:g.170876235G>A	ENSP00000274625:p.Arg112His	NA	D3DQL7|Q6UWF1	37	CCDS4378.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	g	21.3	4.124259	0.77436	.	.	ENSG00000156427	ENST00000274625	D	0.89343	-2.5	4.08	3.19	0.36642	.	0.556585	0.16736	U	0.201631	D	0.90769	0.7102	M	0.77820	2.39	0.25546	N	0.987134	D	0.55605	0.972	P	0.53809	0.735	T	0.83312	-0.0022	10	0.72032	D	0.01	-2.8976	6.6409	0.22909	0.0934:0.0:0.7276:0.1789	.	112	O76093	FGF18_HUMAN	H	112	ENSP00000274625:R112H	ENSP00000274625:R112H	R	+	2	0	FGF18	170808840	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	4.443000	0.59994	0.688000	0.31529	0.450000	0.29827	CGC	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252857.2		+	ENST00000274625.5	Missense_Mutation	SNP	5 : 170876235 - 170876235 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	287	5
GFRA1	2674	broad.mit.edu	37	10	118030528	118030528	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:118030528C>T	ENST00000369236.1	-	2	392	c.140G>A	c.(139-141)cGc>cAc	p.R47H	GFRA1_ENST00000355422.6_Missense_Mutation_p.R47H|GFRA1_ENST00000439649.3_Missense_Mutation_p.R47H	NM_145793.3	NP_665736.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	47					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCTTAGCGTGCGGTACTTGGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(128;329 1725 45498 46808 50759)							NA				0													71	59	63			NA	NA	10		NA											NA				118030528		2203	4300	6503	SO:0001583	missense			AF038421	CCDS7593.1, CCDS44481.1	10q25-q26	2011-01-25			ENSG00000151892	ENSG00000151892	2674	2674			4243	protein-coding gene	gene with protein product		601496		GDNFRA	NA	9465905, 9545641	Standard	NM_145793	NM_005264	NA	Approved	RETL1, GDNFR, GFR-ALPHA-1, RET1L, TRNR1	uc001lcj.3	P56159	OTTHUMG00000019097	ENST00000369236.1:c.140G>A	10.37:g.118030528C>T	ENSP00000358239:p.Arg47His	NA	A8KA21|O15507|O43912	37	CCDS7593.1	.	.	.	.	.	.	.	.	.	.	C	35	5.527077	0.96431	.	.	ENSG00000151892	ENST00000439649;ENST00000369236;ENST00000355422;ENST00000369234	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	3.95	3.95	0.45737	GDNF/GAS1 (2);	0.000000	0.85682	D	0.000000	T	0.76190	0.3953	L	0.61036	1.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.78682	-0.2109	10	0.52906	T	0.07	-20.05	16.2431	0.82426	0.0:1.0:0.0:0.0	.	47;47	P56159;P56159-2	GFRA1_HUMAN;.	H	47	ENSP00000393725:R47H;ENSP00000358239:R47H;ENSP00000347591:R47H;ENSP00000358237:R47H	ENSP00000347591:R47H	R	-	2	0	GFRA1	118020518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.617000	0.83032	2.044000	0.60594	0.549000	0.68633	CGC	GFRA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050511.1		-	ENST00000369236.1	Missense_Mutation	SNP	10 : 118030528 - 118030528 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	276	7
GRIN2B	2904	broad.mit.edu	37	12	13717418	13717418	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:13717418C>T	ENST00000609686.1	-	13	2963	c.2754G>A	c.(2752-2754)ccG>ccA	p.P918P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	NA					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P918P(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGCGCTCTGCGGTGAGCCAT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	prostate(1)											167	156	159			NA	NA	12		NA											NA				13717418		2203	4300	6503	SO:0001819	synonymous_variant				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079		2904	2904		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4586	protein-coding gene	gene with protein product		138252		NMDAR2B	NA	1350383	Standard		NM_000834	NA	Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2754G>A	12.37:g.13717418C>T		NA	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	37	CCDS8662.1																																																																																			GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268014.2		-	ENST00000609686.1	Silent	SNP	12 : 13717418 - 13717418 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	634	6
HABP4	22927	broad.mit.edu	37	9	99227683	99227683	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:99227683C>T	ENST00000375249.4	+	3	652	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	HABP4_ENST00000375251.3_Intron	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	193					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				AGGGGGTATGCGCGGCAGAGG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	114	109			NA	NA	9		NA											NA				99227683		2203	4300	6503	SO:0001583	missense			AF241831	CCDS6719.1	9q22.3-q31	2008-02-05			ENSG00000130956	ENSG00000130956	22927	22927			17062	protein-coding gene	gene with protein product					NA	9523163, 10887182	Standard	NM_014282	XM_005251812	NA	Approved	IHABP4, SERBP1L	uc010msg.3	Q5JVS0	OTTHUMG00000020298	ENST00000375249.4:c.577C>T	9.37:g.99227683C>T	ENSP00000364398:p.Arg193Cys	NA	O75804|Q8WV33|Q9NYJ2	37	CCDS6719.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837388	0.50951	.	.	ENSG00000130956	ENST00000375249	T	0.37752	1.18	4.86	2.77	0.32553	.	0.269438	0.30538	N	0.009418	T	0.42381	0.1200	L	0.43923	1.385	0.49213	D	0.999769	D	0.71674	0.998	P	0.53185	0.72	T	0.40515	-0.9559	10	0.72032	D	0.01	-7.7391	14.0166	0.64527	0.4686:0.5314:0.0:0.0	.	193	Q5JVS0	HABP4_HUMAN	C	193	ENSP00000364398:R193C	ENSP00000364398:R193C	R	+	1	0	HABP4	98267504	1.000000	0.71417	0.350000	0.25708	0.389000	0.30415	1.202000	0.32271	0.558000	0.29135	0.644000	0.83932	CGC	HABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053269.1		+	ENST00000375249.4	Missense_Mutation	SNP	9 : 99227683 - 99227683 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	439	6
HINFP	25988	broad.mit.edu	37	11	119004822	119004822	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:119004822C>T	ENST00000527410.1	+	10	1264	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	HINFP_ENST00000350777.2_Missense_Mutation_p.R390W			Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	0	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R390W(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGGCTATATGCGGCTGCAGCT	0.567		NA									OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											58	59	59			NA	NA	11		NA											NA				119004822		2200	4295	6495	SO:0001819	synonymous_variant			AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273	25988	25988		Zinc fingers, C2H2-type	17850	protein-coding gene	gene with protein product	histone nuclear factor P	607099	MBD2-interacting zinc finger 1, MBD2-interacting zinc finger	MIZF	NA	11553631	Standard	NM_015517	NM_015517	NA	Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000527410.1:c.1230C>T	11.37:g.119004822C>T		1492	B3KPH6|Q96E65|Q9Y4M7	37	CCDS58188.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964717	0.74131	.	.	ENSG00000172273	ENST00000350777	T	0.10573	2.86	5.31	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.29458	0.0734	M	0.64170	1.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.02646	-1.1129	10	0.87932	D	0	-27.7523	14.9379	0.70970	0.5073:0.4927:0.0:0.0	.	390	Q9BQA5	HINFP_HUMAN	W	390	ENSP00000318085:R390W	ENSP00000318085:R390W	R	+	1	2	HINFP	118510032	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.333000	0.43912	0.360000	0.24265	-0.152000	0.13540	CGG	HINFP-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388205.1		+	ENST00000527410.1	Silent	SNP	11 : 119004822 - 119004822 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	324	5
HKDC1	80201	broad.mit.edu	37	10	71005968	71005968	+	Missense_Mutation	SNP	C	C	T	rs148723879		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:71005968C>T	ENST00000354624.5	+	8	1142	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R337W	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	337					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATCGAAACACGGCACGTGGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,4406		0,0,2203	117	100	106		1009	2.7	0.7	10	dbSNP_134	106	2,8598	2.2+/-6.3	0,2,4298	no	missense	HKDC1	NM_025130.3	101	0,2,6501	TT,TC,CC	NA	0.0233,0.0,0.0154	probably-damaging	337/918	71005968	2,13004	2203	4300	6503	SO:0001583	missense				CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510	80201	80201			23302	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_025130	NM_025130	NA	Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.1009C>T	10.37:g.71005968C>T	ENSP00000346643:p.Arg337Trp	NA	B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	37	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.900111	0.52227	0.0	2.33E-4	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.96554	-4.05;-4.05	4.68	2.69	0.31865	Hexokinase, C-terminal (1);	0.498975	0.22141	N	0.064050	D	0.93716	0.7992	M	0.63843	1.955	0.09310	N	1	D	0.69078	0.997	B	0.41917	0.37	D	0.88588	0.3141	10	0.87932	D	0	-9.0294	8.3136	0.32086	0.3743:0.5092:0.1165:0.0	.	337	Q2TB90	HKDC1_HUMAN	W	337	ENSP00000346643:R337W;ENSP00000378521:R337W	ENSP00000346643:R337W	R	+	1	2	HKDC1	70675974	0.065000	0.20965	0.684000	0.30055	0.622000	0.37654	2.558000	0.45879	1.172000	0.42781	0.561000	0.74099	CGG	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048389.1		+	ENST00000354624.5	Missense_Mutation	SNP	10 : 71005968 - 71005968 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	330	90
HOXA3	3200	broad.mit.edu	37	7	27148046	27148046	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr7:27148046C>T	ENST00000396352.4	-	3	1019	c.820G>A	c.(820-822)Ggt>Agt	p.G274S	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.G274S	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	274					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGATAGCCACCGGCTCCGGGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(136;1368 1743 5685 7935 50360)							NA				0													86	88	88			NA	NA	7		NA											NA				27148046		2203	4300	6503	SO:0001583	missense				CCDS5404.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105997	ENSG00000105997	3200	3200		Homeoboxes / ANTP class : HOXL subclass	5104	protein-coding gene	gene with protein product		142954	homeo box A3	HOX1E, HOX1	NA	1973146, 1358459	Standard		XM_005249730	NA	Approved		uc011jzl.2	O43365	OTTHUMG00000023209	ENST00000396352.4:c.820G>A	7.37:g.27148046C>T	ENSP00000379640:p.Gly274Ser	NA	A4D181	37	CCDS5404.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340433	0.41498	.	.	ENSG00000105997	ENST00000396352;ENST00000317201;ENST00000396350	D;D	0.86297	-2.1;-2.1	5.41	5.41	0.78517	.	0.047410	0.85682	D	0.000000	D	0.91955	0.7452	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90337	0.4356	10	0.33940	T	0.23	.	19.215	0.93772	0.0:1.0:0.0:0.0	.	274	O43365	HXA3_HUMAN	S	274;274;116	ENSP00000379640:G274S;ENSP00000324884:G274S	ENSP00000324884:G274S	G	-	1	0	HOXA3	27114571	1.000000	0.71417	0.432000	0.26747	0.546000	0.35178	6.089000	0.71384	2.539000	0.85634	0.655000	0.94253	GGT	HOXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358708.2		-	ENST00000396352.4	Missense_Mutation	SNP	7 : 27148046 - 27148046 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	278	82
IFIT1	3434	broad.mit.edu	37	10	91162577	91162577	+	Missense_Mutation	SNP	C	C	T	rs146515241		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:91162577C>T	ENST00000371804.3	+	2	712	c.545C>T	c.(544-546)gCg>gTg	p.A182V	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000546318.1_Missense_Mutation_p.A151V	NM_001270927.1|NM_001548.4	NP_001257856.1|NP_001539.3	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	182					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCTGGGTATGCGATCTCTGCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	VAL/ALA	0,4406		0,0,2203	128	130	129		545	5.2	1	10	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IFIT1	NM_001548.3	64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	182/479	91162577	1,13005	2203	4300	6503	SO:0001583	missense			M24594	CCDS31243.1, CCDS59220.1	10q23.31	2014-05-22			ENSG00000185745	ENSG00000185745	3434	3434		Tetratricopeptide (TTC) repeat domain containing	5407	protein-coding gene	gene with protein product		147690		G10P1, IFI56, IFNAI1	NA	1377167, 3360121	Standard	NM_001548	NM_001548	NA	Approved	GARG-16	uc001kgi.4	P09914	OTTHUMG00000018712	ENST00000371804.3:c.545C>T	10.37:g.91162577C>T	ENSP00000360869:p.Ala182Val	NA	Q96QM5	37	CCDS31243.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654381	0.67472	0.0	1.16E-4	ENSG00000185745	ENST00000371804;ENST00000546318	T;T	0.77229	-1.08;-1.08	5.24	5.24	0.73138	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.128318	0.50627	D	0.000102	D	0.89093	0.6617	M	0.89095	3.005	0.52501	D	0.999953	D;D	0.89917	1.0;1.0	P;P	0.62298	0.9;0.9	D	0.90623	0.4561	10	0.59425	D	0.04	.	18.1674	0.89733	0.0:1.0:0.0:0.0	.	182;182	Q5T7J1;P09914	.;IFIT1_HUMAN	V	182;151	ENSP00000360869:A182V;ENSP00000441968:A151V	ENSP00000360869:A182V	A	+	2	0	IFIT1	91152557	0.999000	0.42202	0.952000	0.39060	0.013000	0.08279	4.613000	0.61176	2.585000	0.87301	0.557000	0.71058	GCG	IFIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049302.1		+	ENST00000371804.3	Missense_Mutation	SNP	10 : 91162577 - 91162577 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	781	7
INHBB	3625	broad.mit.edu	37	2	121106818	121106818	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:121106818C>T	ENST00000295228.3	+	2	638	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	198					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				GCGGAAGGTGCGGGTCAAAGT	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	76	77			NA	NA	2		NA											NA				121106818		2203	4300	6503	SO:0001583	missense				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083	3625	3625		Endogenous ligands	6067	protein-coding gene	gene with protein product		147390	inhibin, beta B (activin AB beta polypeptide)		NA	3345731	Standard		NM_002193	NA	Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.592C>T	2.37:g.121106818C>T	ENSP00000295228:p.Arg198Trp	NA	Q53T31|Q8N1D3	37	CCDS2132.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385211	0.61956	.	.	ENSG00000163083	ENST00000295228	T	0.70399	-0.48	4.94	4.94	0.65067	Transforming growth factor-beta, N-terminal (1);	0.087418	0.45867	D	0.000321	T	0.77572	0.4150	L	0.51422	1.61	0.39241	D	0.963859	D	0.76494	0.999	D	0.66979	0.948	T	0.79524	-0.1768	10	0.66056	D	0.02	-6.5689	10.9786	0.47480	0.2877:0.7123:0.0:0.0	.	198	P09529	INHBB_HUMAN	W	198	ENSP00000295228:R198W	ENSP00000295228:R198W	R	+	1	2	INHBB	120823288	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.378000	0.66190	2.728000	0.93425	0.655000	0.94253	CGG	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254234.1		+	ENST00000295228.3	Missense_Mutation	SNP	2 : 121106818 - 121106818 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	274	5
INSC	387755	broad.mit.edu	37	11	15212347	15212347	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:15212347G>A	ENST00000528567.1	+	5	753	c.680G>A	c.(679-681)cGc>cAc	p.R227H	INSC_ENST00000379556.3_Missense_Mutation_p.R227H|INSC_ENST00000424273.1_Missense_Mutation_p.R227H|INSC_ENST00000379554.3_Missense_Mutation_p.R274H|INSC_ENST00000525218.1_Missense_Mutation_p.R227H|INSC_ENST00000530161.1_Missense_Mutation_p.R227H|INSC_ENST00000447214.2_3'UTR	NM_001278315.1	NP_001265244.1	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	274					cell differentiation|nervous system development	cytoplasm	binding	p.R274H(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCCTTGTGCCGCATCATAGCC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											94	97	96			NA	NA	11		NA											NA				15212347		1927	4143	6070	SO:0001583	missense			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487	387755	387755			33116	protein-coding gene	gene with protein product	inscuteable spindle orientation adaptor protein	610668			NA	16458856	Standard	NM_001031853	NM_001031853	NA	Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000528567.1:c.680G>A	11.37:g.15212347G>A	ENSP00000435022:p.Arg227His	NA	Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	37		.	.	.	.	.	.	.	.	.	.	G	15.94	2.979790	0.53827	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50277	0.76;0.76;0.75;0.76;0.76;0.75	6.16	6.16	0.99307	Armadillo-like helical (1);Armadillo-type fold (1);	0.046793	0.85682	D	0.000000	T	0.34135	0.0887	N	0.19112	0.55	0.46317	D	0.998986	P;B;B;B	0.34662	0.462;0.107;0.236;0.236	B;B;B;B	0.27608	0.081;0.009;0.039;0.039	T	0.12091	-1.0561	10	0.42905	T	0.14	-28.8201	17.7766	0.88510	0.0:0.0:1.0:0.0	.	262;227;227;274	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	H	274;227;227;262;227;227;227	ENSP00000368872:R274H;ENSP00000368874:R227H;ENSP00000389161:R227H;ENSP00000435022:R227H;ENSP00000436194:R227H;ENSP00000436113:R227H	ENSP00000368872:R274H	R	+	2	0	INSC	15168923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.592000	0.61027	2.937000	0.99478	0.650000	0.86243	CGC	INSC-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000386592.1		+	ENST00000528567.1	Missense_Mutation	SNP	11 : 15212347 - 15212347 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	420	5
ITGA2	3673	broad.mit.edu	37	5	52360796	52360796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:52360796C>T	ENST00000296585.5	+	14	1800	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	553					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAACACTCGATTTGGTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	148	149			NA	NA	5		NA											NA				52360796		2203	4300	6503	SO:0001587	stop_gained				CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171	3673	3673		CD molecules, Integrins	6137	protein-coding gene	gene with protein product		192974		CD49B	NA		Standard	NM_002203	NM_002203	NA	Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.1657C>T	5.37:g.52360796C>T	ENSP00000296585:p.Arg553*	NA	Q14595	37	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	38	6.920610	0.97936	.	.	ENSG00000164171	ENST00000296585	.	.	.	5.67	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0088	0.71533	0.3736:0.6264:0.0:0.0	.	.	.	.	X	553	.	ENSP00000296585:R553X	R	+	1	2	ITGA2	52396553	0.972000	0.33761	0.988000	0.46212	0.995000	0.86356	2.181000	0.42547	0.371000	0.24564	0.655000	0.94253	CGA	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253857.2		+	ENST00000296585.5	Nonsense_Mutation	SNP	5 : 52360796 - 52360796 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	627	161
KDM4C	23081	broad.mit.edu	37	9	6990510	6990510	+	Missense_Mutation	SNP	C	C	T	rs151291155	byFrequency	TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr9:6990510C>T	ENST00000381309.3	+	12	2337	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	KDM4C_ENST00000543771.1_Missense_Mutation_p.A591V|KDM4C_ENST00000536108.1_Missense_Mutation_p.A410V|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Missense_Mutation_p.A591V|KDM4C_ENST00000535193.1_Missense_Mutation_p.A613V|KDM4C_ENST00000428870.2_Missense_Mutation_p.A278V	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AAGCAGCAGGCGCCAAGTGAT	0.408		NA											C	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	0.9547	LOWCOV,EXOME	NA	NA	2e-04	SNP								NA				0								C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	54	46	49		1772,1772,1838,1772	2.9	0.8	9	dbSNP_134	49	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	KDM4C	NM_001146694.1,NM_001146695.1,NM_001146696.1,NM_015061.3	64,64,64,64	0,3,6500	TT,TC,CC	NA	0.0233,0.0227,0.0231	benign,benign,benign,benign	591/1048,591/814,613/836,591/1057	6990510	3,13003	2203	4300	6503	SO:0001583	missense			AB018323	CCDS6471.1, CCDS55285.1, CCDS55286.1, CCDS55287.1	9p24-p23	2013-01-23	2009-04-06	2009-04-06	ENSG00000107077	ENSG00000107077	23081	23081		Chromatin-modifying enzymes / K-demethylases, Tudor domain containing	17071	protein-coding gene	gene with protein product	tudor domain containing 14C	605469	jumonji domain containing 2C	JMJD2C	NA	9872452, 15138608	Standard	NM_015061	NM_015061	NA	Approved	GASC1, KIAA0780, TDRD14C	uc003zkh.3	Q9H3R0	OTTHUMG00000019536	ENST00000381309.3:c.1772C>T	9.37:g.6990510C>T	ENSP00000370710:p.Ala591Val	NA	B7ZL46|O94877|Q2M3M0|Q5JUC9|Q5VYJ2|Q5VYJ3	37	CCDS6471.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.18	2.159146	0.38119	2.27E-4	2.33E-4	ENSG00000107077	ENST00000535193;ENST00000543771;ENST00000381309;ENST00000381306;ENST00000536108;ENST00000428870	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	4.8	2.93	0.34026	.	0.294931	0.36703	N	0.002452	T	0.31040	0.0784	L	0.35414	1.06	0.44366	D	0.997269	B;B;B;B	0.29627	0.043;0.252;0.026;0.077	B;B;B;B	0.21151	0.012;0.033;0.013;0.024	T	0.06127	-1.0844	10	0.30078	T	0.28	-39.5448	8.6521	0.34040	0.0:0.8202:0.0:0.1798	.	591;613;591;591	F5H347;F5H7P0;Q9H3R0;Q9H3R0-2	.;.;KDM4C_HUMAN;.	V	613;591;591;591;410;278	ENSP00000442382:A613V;ENSP00000445427:A591V;ENSP00000370710:A591V;ENSP00000370707:A591V;ENSP00000440656:A410V;ENSP00000405739:A278V	ENSP00000370707:A591V	A	+	2	0	KDM4C	6980510	0.990000	0.36364	0.839000	0.33178	0.756000	0.42949	2.883000	0.48554	0.600000	0.29862	0.557000	0.71058	GCG	KDM4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051692.1		+	ENST00000381309.3	Missense_Mutation	SNP	9 : 6990510 - 6990510 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	134	49
KIAA0586	9786	broad.mit.edu	37	14	58915077	58915077	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:58915077C>T	ENST00000423743.3	+	8	953	c.695C>T	c.(694-696)gCa>gTa	p.A232V	KIAA0586_ENST00000556134.1_Missense_Mutation_p.A261V|KIAA0586_ENST00000354386.6_Missense_Mutation_p.A329V|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.A276V	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	276										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTAGTGCTGCACTCAAGACT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	84	86			NA	NA	14		NA											NA				58915077		1813	4077	5890	SO:0001583	missense			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578	9786	9786			19960	protein-coding gene	gene with protein product		610178			NA	16702409	Standard	NM_014749	NM_014749	NA	Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000423743.3:c.695C>T	14.37:g.58915077C>T	ENSP00000399427:p.Ala232Val	NA		37	CCDS58322.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801789	0.90538	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000002	T	0.75102	0.3804	M	0.68952	2.095	0.45239	D	0.998243	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;1.0	D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.994;0.998;0.998	T	0.77038	-0.2736	10	0.87932	D	0	.	17.3225	0.87239	0.0:1.0:0.0:0.0	.	136;136;329;276;261;232	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	V	329;261;232;191;276;136	ENSP00000346359:A329V;ENSP00000452351:A261V;ENSP00000399427:A232V;ENSP00000450855:A191V;ENSP00000261244:A276V	ENSP00000261244:A276V	A	+	2	0	KIAA0586	57984830	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	4.520000	0.60524	2.696000	0.92011	0.585000	0.79938	GCA	KIAA0586-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411988.2		+	ENST00000423743.3	Missense_Mutation	SNP	14 : 58915077 - 58915077 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	212	82
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	366	89
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											96	103	100			NA	NA	18		NA											NA				7231664		2112	4226	6338	SO:0001819	synonymous_variant				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422	339291	339291			30219	protein-coding gene	gene with protein product					NA		Standard	XM_292678	NM_001105581	NA	Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.528G>A	18.37:g.7231664G>A		NA		37	CCDS42409.1																																																																																			LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000442140.1		+	ENST00000383467.2	Silent	SNP	18 : 7231664 - 7231664 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	415	5
LRRC7	57554	broad.mit.edu	37	1	70488845	70488845	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:70488845C>T	ENST00000310961.5	+	18	1901	c.1483C>T	c.(1483-1485)Cgt>Tgt	p.R495C	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.R490C			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	490						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAGGGGCCAGCGTGGGATTAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	48	49			NA	NA	1		NA											NA				70488845		2203	4300	6503	SO:0001583	missense				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122	57554	57554			18531	protein-coding gene	gene with protein product		614453			NA	12525888	Standard	NM_020794	NM_020794	NA	Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000310961.5:c.1483C>T	1.37:g.70488845C>T	ENSP00000309245:p.Arg495Cys	NA	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	37		.	.	.	.	.	.	.	.	.	.	C	15.75	2.925926	0.52759	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.38077	1.16;1.24	5.86	5.86	0.93980	.	0.257341	0.35495	N	0.003162	T	0.10981	0.0268	N	0.08118	0	0.80722	D	1	P	0.49358	0.923	B	0.35859	0.212	T	0.05273	-1.0895	10	0.72032	D	0.01	.	15.6849	0.77402	0.0:1.0:0.0:0.0	.	490	Q96NW7	LRRC7_HUMAN	C	495;490;313	ENSP00000309245:R495C;ENSP00000035383:R490C	ENSP00000035383:R490C	R	+	1	0	LRRC7	70261433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.522000	0.53480	2.775000	0.95449	0.585000	0.79938	CGT	LRRC7-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000131262.2		+	ENST00000310961.5	Missense_Mutation	SNP	1 : 70488845 - 70488845 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	145	60
MAPK13	5603	broad.mit.edu	37	6	36106684	36106684	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr6:36106684G>C	ENST00000211287.4	+	11	1132	c.870G>C	c.(868-870)gaG>gaC	p.E290D	MAPK13_ENST00000373766.5_Missense_Mutation_p.A240P|MAPK13_ENST00000373759.1_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.E280D	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	290	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGATGCTGGAGCTAGACGTGG	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													43	46	45			NA	NA	6		NA											NA				36106684		2203	4300	6503	SO:0001583	missense			Y10488	CCDS4818.1	6p21	2011-06-09			ENSG00000156711	ENSG00000156711	5603	5603	2.7.11.1	Mitogen-activated protein kinase cascade / Kinases	6875	protein-coding gene	gene with protein product		602899		PRKM13	NA	9295308, 9218798	Standard		NM_002754	NA	Approved	SAPK4, p38delta	uc003ols.4	O15264	OTTHUMG00000014587	ENST00000211287.4:c.870G>C	6.37:g.36106684G>C	ENSP00000211287:p.Glu290Asp	NA	O14739|O15124|Q6FI46|Q9UNU0	37	CCDS4818.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.12|13.12	2.143296|2.143296	0.37825|0.37825	.|.	.|.	ENSG00000156711|ENSG00000156711	ENST00000373766|ENST00000373761;ENST00000211287;ENST00000373770	T|T;T	0.66995|0.65364	-0.24|-0.15;-0.15	5.25|5.25	3.47|3.47	0.39725|0.39725	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.105229	.|0.41605	.|D	.|0.000844	T|T	0.29684|0.29684	0.0741|0.0741	L|L	0.33245|0.33245	0.995|0.995	0.23632|0.23632	N|N	0.997245|0.997245	.|B	.|0.09022	.|0.002	.|B	.|0.09377	.|0.004	T|T	0.21827|0.21827	-1.0234|-1.0234	7|10	0.72032|0.42905	D|T	0.01|0.14	-45.63|-45.63	11.297|11.297	0.49284|0.49284	0.1481:0.0:0.8519:0.0|0.1481:0.0:0.8519:0.0	.|.	.|290	.|O15264	.|MK13_HUMAN	P|D	240|280;290;235	ENSP00000362871:A240P|ENSP00000362866:E280D;ENSP00000211287:E290D	ENSP00000362871:A240P|ENSP00000211287:E290D	A|E	+|+	1|3	0|2	MAPK13|MAPK13	36214662|36214662	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.831000|0.831000	0.47069|0.47069	1.350000|1.350000	0.34010|0.34010	0.605000|0.605000	0.29947|0.29947	0.484000|0.484000	0.47621|0.47621	GCT|GAG	MAPK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040328.1		+	ENST00000211287.4	Missense_Mutation	SNP	6 : 36106684 - 36106684 C PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	195	61
MBD1	4152	broad.mit.edu	37	18	47797907	47797914	+	Splice_Site	DEL	GGACCTAG	GGACCTAG	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	GGACCTAG	GGACCTAG	-	-	GGACCTAG	GGACCTAG	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:47797907_47797914delGGACCTAG	ENST00000591416.1	-	16	2210_2213	c.1779_1782delCTAGGTCC	c.(1777-1782)agctag>ag	p.S*593fs	MBD1_ENST00000382948.5_Splice_Site_p.S*593fs|MBD1_ENST00000269468.5_Splice_Site_p.S*593fs|MBD1_ENST00000398495.2_Splice_Site_p.S*554fs|MBD1_ENST00000585595.1_Splice_Site_p.S*618fs|MBD1_ENST00000436910.1_Splice_Site_p.S*524fs|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000398493.1_Splice_Site_p.S*537fs|MBD1_ENST00000424334.2_Splice_Site_p.S*644fs|MBD1_ENST00000347968.3_Splice_Site_p.S*537fs|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000591535.1_Splice_Site_p.S*524fs|MBD1_ENST00000457839.2_Splice_Site_p.S*618fs|MBD1_ENST00000349085.2_Splice_Site_p.S*491fs|MBD1_ENST00000353909.3_Splice_Site_p.S*544fs|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000339998.6_Intron|MBD1_ENST00000398488.1_Splice_Site_p.S*491fs|MBD1_ENST00000590208.1_Intron			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	593					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TAAGGTCTTTGGACCTAGGGAAAAGGGA	0.442		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001630	splice_region_variant			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644	4152	4152			6916	protein-coding gene	gene with protein product		156535			NA	9207790, 10441743	Standard	NM_015846	NM_015844	NA	Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1779-1CTAGGTCC>-	18.37:g.47797907_47797914delGGACCTAG		NA	A4UTZ0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	37	CCDS11943.1																																																																																			MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255926.3	Frame_Shift_Del	-	ENST00000591416.1	Splice_Site	DEL	18 : 47797907 - 47797914 - PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	531	152
MMACHC	25974	broad.mit.edu	37	1	45974781	45974781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:45974781C>A	ENST00000401061.4	+	4	1023	c.743C>A	c.(742-744)cCg>cAg	p.P248Q		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	248							cobalamin binding	p.P248L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTCCCTCCCCGGACCTTCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	endometrium(1)											89	100	97			NA	NA	1		NA											NA				45974781		1900	4113	6013	SO:0001583	missense				CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763	25974	25974			24525	protein-coding gene	gene with protein product		609831			NA	16311595	Standard	NM_015506	NM_015506	NA	Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.743C>A	1.37:g.45974781C>A	ENSP00000383840:p.Pro248Gln	NA	Q5T157|Q9BRQ7	37	CCDS41324.1	.	.	.	.	.	.	.	.	.	.	C	8.766	0.924777	0.18056	.	.	ENSG00000132763	ENST00000401061	D	0.95103	-3.61	4.98	-0.315	0.12746	.	2.021430	0.01898	N	0.039021	D	0.86285	0.5896	N	0.17082	0.46	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.76691	-0.2866	10	0.09338	T	0.73	6.9117	1.9274	0.03320	0.1464:0.4919:0.1292:0.2325	.	248	Q9Y4U1	MMAC_HUMAN	Q	248	ENSP00000383840:P248Q	ENSP00000383840:P248Q	P	+	2	0	MMACHC	45747368	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.003000	0.13083	-0.121000	0.11787	-0.222000	0.12452	CCG	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000020864.2		+	ENST00000401061.4	Missense_Mutation	SNP	1 : 45974781 - 45974781 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	431	5
MTOR	2475	broad.mit.edu	37	1	11217239	11217239	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr1:11217239C>T	ENST00000361445.4	-	30	4515	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1480	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCAGCGCATGCGGCCCAGCAT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													192	176	181			NA	NA	1		NA											NA				11217239		2203	4300	6503	SO:0001583	missense			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793	2475	2475			3942	protein-coding gene	gene with protein product	FK506 binding protein 12-rapamycin associated protein 2, rapamycin target protein, FKBP12-rapamycin complex-associated protein 1, FKBP-rapamycin associated protein, rapamycin associated protein FRAP2, dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1), rapamycin and FKBP12 target 1, mammalian target of rapamycin	601231	FK506 binding protein 12-rapamycin associated protein 1	FRAP, FRAP2, FRAP1	NA	8008069, 8660990	Standard	NM_004958	NM_004958	NA	Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.4439G>A	1.37:g.11217239C>T	ENSP00000354558:p.Arg1480His	NA	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577708	0.65878	.	.	ENSG00000198793	ENST00000361445;ENST00000539766	T	0.65549	-0.16	5.32	5.32	0.75619	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	L	0.31926	0.97	0.80722	D	1	B	0.13145	0.007	B	0.01281	0.0	T	0.46190	-0.9209	10	0.30854	T	0.27	-1.1882	19.0009	0.92834	0.0:1.0:0.0:0.0	.	1480	P42345	MTOR_HUMAN	H	1480	ENSP00000354558:R1480H	ENSP00000354558:R1480H	R	-	2	0	MTOR	11139826	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.486000	0.83907	0.655000	0.94253	CGC	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005558.1		-	ENST00000361445.4	Missense_Mutation	SNP	1 : 11217239 - 11217239 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	416	5
MYH2	4620	broad.mit.edu	37	17	10436865	10436865	+	Silent	SNP	G	G	A	rs146411264		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:10436865G>A	ENST00000532183.2	-	16	2243				RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Silent_p.I755I|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000245503.5_Silent_p.I755I|RP11-799N11.1_ENST00000581304.1_RNA			Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	NA					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGTCAATGTCGATGGATGCAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	0,4406		0,0,2203	156	146	149		2265,2265	-8.1	0.7	17	dbSNP_134	149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	MYH2	NM_001100112.1,NM_017534.5	,	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	,	755/1942,755/1942	10436865	1,13005	2203	4300	6503	SO:0001627	intron_variant				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414	4620	4620		Myosins / Myosin superfamily : Class II	7572	protein-coding gene	gene with protein product		160740	myosin, heavy polypeptide 2, skeletal muscle, adult, inclusion body myopathy 3, autosomal dominant	IBM3	NA	7545970, 11889243	Standard	NM_017534	NM_001100112	NA	Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000532183.2:c.1974+2981C>T	17.37:g.10436865G>A		NA	A0AVL4|Q14322|Q16229|Q86T56	37																																																																																				MYH2-006	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000394461.43		-	ENST00000532183.2	Intron	SNP	17 : 10436865 - 10436865 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	466	7
MYO5C	55930	broad.mit.edu	37	15	52536564	52536564	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:52536564C>T	ENST00000261839.7	-	19	2540	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	793	IQ 2.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TCACAGTTTGCTGACCCCGGA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													62	69	67			NA	NA	15		NA											NA				52536564		2134	4235	6369	SO:0001819	synonymous_variant			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833	55930	55930		Myosins / Myosin superfamily : Class V	7604	protein-coding gene	gene with protein product	myosin 5C	610022			NA	11870218	Standard	NM_018728	NM_018728	NA	Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2379G>A	15.37:g.52536564C>T		NA		37	CCDS42036.1																																																																																			MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419562.1		-	ENST00000261839.7	Silent	SNP	15 : 52536564 - 52536564 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	367	5
NUMA1	4926	broad.mit.edu	37	11	71726747	71726747	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:71726747G>A	ENST00000393695.3	-	15	2133	c.1802C>T	c.(1801-1803)gCg>gTg	p.A601V	NUMA1_ENST00000358965.6_Missense_Mutation_p.A601V|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	601					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.A601V(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTTGAGAGCCGCATCCCGCTC	0.607		NA	T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	1	Substitution - Missense(1)	ovary(1)											50	49	50			NA	NA	11		NA											NA				71726747		2200	4293	6493	SO:0001583	missense			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497	NA	4926			8059	protein-coding gene	gene with protein product		164009			NA	8406455	Standard		NM_006185	NA	Approved		uc001orl.1	Q14980		ENST00000393695.3:c.1802C>T	11.37:g.71726747G>A	ENSP00000377298:p.Ala601Val	1132	Q14981	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746868	0.30955	.	.	ENSG00000137497	ENST00000358965;ENST00000393695;ENST00000359652;ENST00000542977;ENST00000537217	T;T;T;T	0.47528	2.65;2.66;1.44;0.84	6.07	2.94	0.34122	.	1.010270	0.07941	N	0.979168	T	0.30039	0.0752	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.15473	0.005;0.013;0.013;0.013	B;B;B;B	0.13407	0.006;0.009;0.006;0.006	T	0.15009	-1.0452	10	0.40728	T	0.16	.	6.3435	0.21337	0.0709:0.2401:0.5658:0.1233	.	607;85;601;601	Q4LE64;Q59HB8;Q14980-2;Q14980	.;.;.;NUMA1_HUMAN	V	601;601;164;601;601	ENSP00000351851:A601V;ENSP00000377298:A601V;ENSP00000444880:A601V;ENSP00000442936:A601V	ENSP00000351851:A601V	A	-	2	0	NUMA1	71404395	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	0.628000	0.24522	1.543000	0.49345	0.655000	0.94253	GCG	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395769.1		-	ENST00000393695.3	Missense_Mutation	SNP	11 : 71726747 - 71726747 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	223	5
OR10G7	390265	broad.mit.edu	37	11	123909404	123909404	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr11:123909404A>G	ENST00000330487.5	-	1	313	c.305T>C	c.(304-306)tTt>tCt	p.F102S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GAAGTGGAAAAAATAGAGCTG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	133	130			NA	NA	11		NA											NA				123909404		2200	4299	6499	SO:0001583	missense			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634	390265	390265		GPCR / Class A : Olfactory receptors	14842	protein-coding gene	gene with protein product					NA		Standard	NM_001004463	NM_001004463	NA	Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.305T>C	11.37:g.123909404A>G	ENSP00000329689:p.Phe102Ser	NA	Q6IFE8	37	CCDS31705.1	.	.	.	.	.	.	.	.	.	.	A	0.908	-0.719988	0.03182	.	.	ENSG00000182634	ENST00000330487	T	0.00502	6.95	3.39	-2.56	0.06268	GPCR, rhodopsin-like superfamily (1);	1.214850	0.05929	N	0.634898	T	0.00524	0.0017	M	0.64630	1.985	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.39165	-0.9627	10	0.41790	T	0.15	.	5.7826	0.18314	0.3487:0.4967:0.1546:0.0	.	102	Q8NGN6	O10G7_HUMAN	S	102	ENSP00000329689:F102S	ENSP00000329689:F102S	F	-	2	0	OR10G7	123414614	0.000000	0.05858	0.311000	0.25182	0.042000	0.13812	0.173000	0.16724	-0.386000	0.07821	-0.666000	0.03841	TTT	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387271.1		-	ENST00000330487.5	Missense_Mutation	SNP	11 : 123909404 - 123909404 G PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	575	63
PCDHA1	56147	broad.mit.edu	37	5	140167552	140167552	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:140167552C>T	ENST00000504120.2	+	1	1677	c.1677C>T	c.(1675-1677)aaC>aaT	p.N559N	PCDHA1_ENST00000378133.3_Silent_p.N559N|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1			protocadherin alpha 1	NA										breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACGAGAACGACAACGCGC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													86	87	87			NA	NA	5		NA											NA				140167552		2203	4299	6502	SO:0001819	synonymous_variant			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970	56147	56147		Cadherins / Protocadherins : Clustered	8663	other	complex locus constituent	KIAA0345-like 13	606307			NA	10380929	Standard	NM_018900	NM_018900	NA	Approved			Q9Y5I3		ENST00000504120.2:c.1677C>T	5.37:g.140167552C>T		NA		37	CCDS54913.1																																																																																			PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389127.1		+	ENST00000504120.2	Silent	SNP	5 : 140167552 - 140167552 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	684	171
PEG3	5178	broad.mit.edu	37	19	57328906	57328906	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57328906G>A	ENST00000326441.9	-	10	1267	c.904C>T	c.(904-906)Cgg>Tgg	p.R302W	PEG3_ENST00000423103.2_Missense_Mutation_p.R302W|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.R178W|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R176W|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	302					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAAATCCCCCGCCGGTGGGTT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	57	54			NA	NA	19		NA											NA				57328906		2203	4299	6502	SO:0001583	missense			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300	5178	5178		Zinc fingers, C2H2-type, -, -, -	8826	protein-coding gene	gene with protein product		601483			NA	9149948	Standard		NM_006210	NA	Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.904C>T	19.37:g.57328906G>A	ENSP00000326581:p.Arg302Trp	NA	P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.475230	0.63737	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02737	4.18;4.18	4.27	3.22	0.36961	.	0.000000	0.43919	D	0.000511	T	0.06962	0.0177	L	0.27053	0.805	.	.	.	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.73708	0.972;0.972;0.981	T	0.36407	-0.9749	9	0.51188	T	0.08	-23.6433	11.7512	0.51849	0.0:0.0:0.8225:0.1775	.	178;302;237	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	W	302;302;272	ENSP00000326581:R302W;ENSP00000403051:R302W	ENSP00000292074:R272W	R	-	1	2	ZIM2	62020718	0.147000	0.22687	0.499000	0.27577	0.991000	0.79684	3.450000	0.52957	1.367000	0.46095	0.561000	0.74099	CGG	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000416099.2		-	ENST00000326441.9	Missense_Mutation	SNP	19 : 57328906 - 57328906 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	554	142
PMEPA1	56937	broad.mit.edu	37	20	56234669	56234669	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr20:56234669T>C	ENST00000341744.3	-	2	513	c.194A>G	c.(193-195)tAc>tGc	p.Y65C	PMEPA1_ENST00000395814.1_Missense_Mutation_p.Y15C|PMEPA1_ENST00000347215.4_Missense_Mutation_p.Y30C|PMEPA1_ENST00000265626.4_Missense_Mutation_p.Y15C|PMEPA1_ENST00000472841.1_5'UTR|PMEPA1_ENST00000395816.3_Missense_Mutation_p.Y15C	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	65					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						AGACAGCTTGTAGTGGCTCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	68	79			NA	NA	20		NA											NA				56234669		2203	4300	6503	SO:0001583	missense			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225	56937	56937			14107	protein-coding gene	gene with protein product	solid tumor-associated 1	606564	transmembrane, prostate androgen induced RNA	TMEPAI	NA	10873380	Standard	NM_020182	NM_020182	NA	Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.194A>G	20.37:g.56234669T>C	ENSP00000345826:p.Tyr65Cys	NA	Q5TDR6|Q96B72|Q9UJD3	37	CCDS13463.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.185907	0.57909	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.68903	-0.36;-0.24;-0.17;-0.17;-0.17;-0.14;-0.17	4.74	4.74	0.60224	.	0.131993	0.52532	D	0.000066	T	0.81413	0.4817	M	0.78049	2.395	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.84316	0.0513	10	0.87932	D	0	-27.9109	14.2249	0.65853	0.0:0.0:0.0:1.0	.	30;65	Q5JY37;Q969W9	.;PMEPA_HUMAN	C	65;30;15;15;15;37;122	ENSP00000345826:Y65C;ENSP00000344014:Y30C;ENSP00000379161:Y15C;ENSP00000265626:Y15C;ENSP00000379159:Y15C;ENSP00000401506:Y37C;ENSP00000379164:Y122C	ENSP00000265626:Y15C	Y	-	2	0	PMEPA1	55668075	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	7.867000	0.87062	1.774000	0.52232	0.459000	0.35465	TAC	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079858.2		-	ENST00000341744.3	Missense_Mutation	SNP	20 : 56234669 - 56234669 C PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	75	23
RNF43	54894	broad.mit.edu	37	17	56437602	56437603	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:56437602_56437603insC	ENST00000584437.1	-	7	2814_2815	c.859_860insG	c.(859-861)gtcfs	p.V287fs	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Frame_Shift_Ins_p.V160fs|RNF43_ENST00000577716.1_Frame_Shift_Ins_p.V287fs|RNF43_ENST00000500597.2_Frame_Shift_Ins_p.V246fs|RNF43_ENST00000407977.2_Frame_Shift_Ins_p.V287fs|RNF43_ENST00000581868.1_Frame_Shift_Ins_p.V160fs|RNF43_ENST00000583753.1_Frame_Shift_Ins_p.V246fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	287						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGGAAATGACCCGTAGCTCC	0.535		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.860dupG	17.37:g.56437605_56437605dupC	ENSP00000463069:p.Val287fs	NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1																																																																																			RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1		-	ENST00000584437.1	Frame_Shift_Ins	INS	17 : 56437602 - 56437603 C PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	218	78
RP11-934B9.3	0	broad.mit.edu	37	14	24802075	24802075	+	Missense_Mutation	SNP	G	G	A	rs149539471		TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr14:24802075G>A	ENST00000555591.1	-	3	477	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	ADCY4_ENST00000554068.2_Silent_p.S93S|ADCY4_ENST00000558563.1_5'UTR|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000310677.4_Silent_p.S93S|ADCY4_ENST00000418030.2_Silent_p.S93S						NA											NA						ATACCAAGCCGGACAGGGGAC	0.716		NA									OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	20	18			NA	NA	14		NA											NA				24802075		2193	4290	6483	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000555591.1:c.478C>T	14.37:g.24802075G>A	ENSP00000450730:p.Arg160Trp	774		37		.	.	.	.	.	.	.	.	.	.	G	0.072	-1.201359	0.01581	.	.	ENSG00000258973	ENST00000555591	.	.	.	5.76	-11.5	0.00074	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.52099	D	0.999945	.	.	.	.	.	.	T	0.77670	-0.2501	4	.	.	.	.	8.2616	0.31788	0.2962:0.4587:0.0574:0.1877	.	.	.	.	W	160	.	.	R	-	1	2	RP11-934B9.3	23871915	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-8.878000	0.00016	-9.351000	0.00000	-4.402000	0.00006	CGG	RP11-934B9.3-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	NA	protein_coding	OTTHUMT00000414972.1		-	ENST00000555591.1	Missense_Mutation	SNP	14 : 24802075 - 24802075 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	45	3
SCARA5	286133	broad.mit.edu	37	8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:27737142C>T	ENST00000354914.3	-	8	1780	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R207H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	432	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	121	133			NA	NA	8		NA											NA				27737142		2203	4300	6503	SO:0001583	missense			AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079	286133	286133			28701	protein-coding gene	gene with protein product		611306	scavenger receptor class A, member 5 (putative)		NA	19154717	Standard	NM_173833	NM_173833	NA	Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.1295G>A	8.37:g.27737142C>T	ENSP00000346990:p.Arg432His	NA	Q6UXZ1|Q7Z4A1|Q8N4Z7	37	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480662	0.63849	.	.	ENSG00000168079	ENST00000354914;ENST00000380385	T;T	0.42900	0.96;0.96	4.87	3.99	0.46301	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.063343	0.64402	N	0.000010	T	0.48804	0.1520	M	0.88241	2.94	0.80722	D	1	B;B	0.25206	0.012;0.12	B;B	0.19946	0.008;0.027	T	0.54417	-0.8297	10	0.66056	D	0.02	.	11.0431	0.47842	0.0:0.907:0.0:0.093	.	207;432	Q6ZMJ2-4;Q6ZMJ2	.;SCAR5_HUMAN	H	432;207	ENSP00000346990:R432H;ENSP00000369746:R207H	ENSP00000346990:R432H	R	-	2	0	SCARA5	27793061	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.882000	0.63121	1.170000	0.42753	0.591000	0.81541	CGC	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255223.2		-	ENST00000354914.3	Missense_Mutation	SNP	8 : 27737142 - 27737142 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	276	5
SEPP1	6414	broad.mit.edu	37	5	42800957	42800959	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:42800957_42800959delCTC	ENST00000514985.1	-	5	1265_1267	c.1009_1011delGAG	c.(1009-1011)gagdel	p.E337del	SEPP1_ENST00000511224.1_In_Frame_Del_p.E337del|SEPP1_ENST00000507920.1_3'UTR|SEPP1_ENST00000506577.1_In_Frame_Del_p.E337del|CCDC152_ENST00000361970.5_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	337					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGTTATGTTCTCCTCTGCCCGA	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			BC040075	CCDS43311.1	5q31	2012-03-01				ENSG00000250722	6414	6414			10751	protein-coding gene	gene with protein product		601484			NA	8421687	Standard	NM_005410	NM_001085486	NA	Approved	SeP	uc011cpu.2	P49908		ENST00000514985.1:c.1009_1011delGAG	5.37:g.42800960_42800962delCTC	ENSP00000420939:p.Glu337del	NA	Q6PD59|Q6PI43|Q6PI87|Q6PJF9	37	CCDS43311.1																																																																																			SEPP1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	NA	protein_coding	OTTHUMT00000367483.1		-	ENST00000514985.1	In_Frame_Del	DEL	5 : 42800957 - 42800959 - PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	275	92
SHOC2	8036	broad.mit.edu	37	10	112724158	112724158	+	Silent	SNP	A	A	G			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:112724158A>G	ENST00000369452.4	+	2	387	c.42A>G	c.(40-42)aaA>aaG	p.K14K	SHOC2_ENST00000265277.5_Silent_p.K14K|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	14					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CTAAAGAAAAAGATCCCAAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	51	50			NA	NA	10		NA											NA				112724158		2202	4299	6501	SO:0001819	synonymous_variant			AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061	8036	8036			15454	protein-coding gene	gene with protein product		602775	soc-2 (suppressor of clear, C.elegans) homolog		NA	9618511, 9674433, 10783161	Standard	NM_007373	NM_007373	NA	Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.42A>G	10.37:g.112724158A>G		NA	A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	37	CCDS7568.1																																																																																			SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050355.1		+	ENST00000369452.4	Silent	SNP	10 : 112724158 - 112724158 G PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	168	4
SLC12A7	10723	broad.mit.edu	37	5	1064314	1064314	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr5:1064314C>T	ENST00000264930.5	-	19	2534	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	831					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AACGAGTCGACGTTCTTGGCC	0.677		NA											C	2	9e-04	0.002	NA	2184	0.0017	0.9997	,	,	NA	6e-04	NA	NA	NA	0.0011	0.8824	LOWCOV,EXOME	NA	NA	0.0041	SNP								NA				0								C	ILE/VAL	1,4387	2.1+/-5.4	0,1,2193	37	40	39		2491	-0.3	1	5		39	0,8596		0,0,4298	no	missense	SLC12A7	NM_006598.2	29	0,1,6491	TT,TC,CC	NA	0.0,0.0228,0.0077	benign	831/1084	1064314	1,12983	2194	4298	6492	SO:0001583	missense			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	10723	10723		Solute carriers	10915	protein-coding gene	gene with protein product		604879			NA	10347194	Standard	NM_006598	NM_006598	NA	Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2491G>A	5.37:g.1064314C>T	ENSP00000264930:p.Val831Ile	NA	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	37	CCDS34129.1	2|2	9.157509157509158E-4|9.157509157509158E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	0.018|0.018	-1.479004|-1.479004	0.01035|0.01035	2.28E-4|2.28E-4	0.0|0.0	ENSG00000113504|ENSG00000113504	ENST00000513223|ENST00000264930	.|D	.|0.86432	.|-2.12	4.26|4.26	-0.302|-0.302	0.12796|0.12796	.|.	.|0.562347	.|0.17891	.|N	.|0.158521	T|T	0.61324|0.61324	0.2338|0.2338	N|N	0.02286|0.02286	-0.61|-0.61	0.28050|0.28050	N|N	0.933393|0.933393	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.55885|0.55885	-0.8070|-0.8070	5|10	.|0.02654	.|T	.|1	.|.	7.5601|7.5601	0.27847|0.27847	0.0:0.37:0.0:0.63|0.0:0.37:0.0:0.63	.|.	.|831	.|Q9Y666	.|S12A7_HUMAN	H|I	188|831	.|ENSP00000264930:V831I	.|ENSP00000264930:V831I	R|V	-|-	2|1	0|0	SLC12A7|SLC12A7	1117314|1117314	0.943000|0.943000	0.32029|0.32029	0.959000|0.959000	0.39883|0.39883	0.022000|0.022000	0.10575|0.10575	0.148000|0.148000	0.16224|0.16224	0.072000|0.072000	0.16694|0.16694	-0.657000|-0.657000	0.03884|0.03884	CGT|GTC	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366446.2		-	ENST00000264930.5	Missense_Mutation	SNP	5 : 1064314 - 1064314 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	201	58
SLIT1	6585	broad.mit.edu	37	10	98762035	98762035	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:98762035C>T	ENST00000266058.4	-	36	4491	c.4246G>A	c.(4246-4248)Ggg>Agg	p.G1416R	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Intron	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1416					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCCAGGGCCCCGGCCTGGTTG	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													13	15	14			NA	NA	10		NA											NA				98762035		2199	4289	6488	SO:0001583	missense			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122	6585	6585			11085	protein-coding gene	gene with protein product		603742	slit (Drosophila) homolog 1	SLIL1	NA	9693030, 9813312	Standard	NM_003061	NM_003061	NA	Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4246G>A	10.37:g.98762035C>T	ENSP00000266058:p.Gly1416Arg	NA	Q8WWZ2|Q9UIL7	37	CCDS7453.1	.	.	.	.	.	.	.	.	.	.	C	4.285	0.052094	0.08291	.	.	ENSG00000187122	ENST00000266058	T	0.80480	-1.38	4.42	2.57	0.30868	.	0.164002	0.53938	N	0.000048	T	0.58323	0.2114	N	0.04203	-0.255	0.45354	D	0.998344	B	0.06786	0.001	B	0.04013	0.001	T	0.45804	-0.9236	10	0.29301	T	0.29	.	10.0301	0.42096	0.0:0.771:0.0:0.229	.	1416	O75093	SLIT1_HUMAN	R	1416	ENSP00000266058:G1416R	ENSP00000266058:G1416R	G	-	1	0	SLIT1	98752025	0.007000	0.16637	0.178000	0.23040	0.155000	0.21991	0.849000	0.27723	0.499000	0.27970	-0.221000	0.12465	GGG	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049636.1		-	ENST00000266058.4	Missense_Mutation	SNP	10 : 98762035 - 98762035 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	65	16
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr2:75425709C>T	ENST00000305249.5	-	1	1117	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_ENST00000409848.3_Missense_Mutation_p.A118T	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	NA					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(64;62 1268 3653 14826 43765)							NA				0													121	112	115			NA	NA	2		NA											NA				75425709		2203	4300	6503	SO:0001583	missense			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353	6869	6869		GPCR / Class A : Tachykinin receptors	11526	protein-coding gene	gene with protein product		162323		TAC1R	NA	1657150	Standard	NM_001058	NM_001058	NA	Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.352G>A	2.37:g.75425709C>T	ENSP00000303522:p.Ala118Thr	NA	A8K150	37	CCDS1958.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001310	0.74818	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.76060	-0.99;-0.99	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.049231	0.85682	D	0.000000	T	0.66684	0.2814	L	0.51914	1.62	0.80722	D	1	P	0.47604	0.898	B	0.39660	0.306	T	0.67225	-0.5724	10	0.37606	T	0.19	.	11.5873	0.50925	0.1776:0.8224:0.0:0.0	.	118	P25103	NK1R_HUMAN	T	118	ENSP00000303522:A118T;ENSP00000386448:A118T	ENSP00000303522:A118T	A	-	1	0	TACR1	75279217	1.000000	0.71417	0.985000	0.45067	0.992000	0.81027	4.545000	0.60698	2.798000	0.96311	0.655000	0.94253	GCC	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252239.3		-	ENST00000305249.5	Missense_Mutation	SNP	2 : 75425709 - 75425709 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	351	8
TCF4	6925	broad.mit.edu	37	18	52899813	52899813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr18:52899813T>C	ENST00000561992.1	-	13	1584	c.1186A>G	c.(1186-1188)Acg>Gcg	p.T396A	TCF4_ENST00000564228.1_Missense_Mutation_p.T455A|TCF4_ENST00000570177.2_Missense_Mutation_p.T396A|TCF4_ENST00000398339.1_Missense_Mutation_p.T628A|TCF4_ENST00000537578.1_Missense_Mutation_p.T502A|TCF4_ENST00000564403.2_Missense_Mutation_p.T532A|TCF4_ENST00000457482.3_Missense_Mutation_p.T366A|TCF4_ENST00000540999.1_Missense_Mutation_p.T502A|TCF4_ENST00000568673.1_Missense_Mutation_p.T502A|TCF4_ENST00000564999.1_Missense_Mutation_p.T526A|TCF4_ENST00000570287.2_Missense_Mutation_p.T366A|TCF4_ENST00000543082.1_Missense_Mutation_p.T484A|TCF4_ENST00000544241.2_Missense_Mutation_p.T455A|TCF4_ENST00000561831.3_Missense_Mutation_p.T366A|TCF4_ENST00000568740.1_Missense_Mutation_p.T501A|TCF4_ENST00000566286.1_Missense_Mutation_p.T523A|TCF4_ENST00000537856.3_Missense_Mutation_p.T396A|TCF4_ENST00000566279.1_Missense_Mutation_p.T466A|TCF4_ENST00000565018.2_Missense_Mutation_p.T526A|TCF4_ENST00000356073.4_Missense_Mutation_p.T526A|TCF4_ENST00000567880.1_Missense_Mutation_p.T466A|TCF4_ENST00000354452.3_Missense_Mutation_p.T526A	NM_001243233.1	NP_001230162.1	P15884	ITF2_HUMAN	transcription factor 4	526	Leucine-zipper.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAAGATTTCGTGTCTTGCAGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	121	130			NA	NA	18		NA											NA				52899813		2203	4300	6503	SO:0001583	missense			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628	6925	6925		Basic helix-loop-helix proteins	11634	protein-coding gene	gene with protein product		602272			NA	9302263, 2308860	Standard	NM_003199	NM_001083962	NA	Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000561992.1:c.1186A>G	18.37:g.52899813T>C	ENSP00000455179:p.Thr396Ala	NA	B4DT37|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	37	CCDS58626.1	.	.	.	.	.	.	.	.	.	.	T	2.304	-0.359529	0.05138	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.16897	2.57;2.31;2.62;2.62;2.62;2.57;2.56;2.37;2.55	5.35	4.18	0.49190	.	0.176553	0.51477	D	0.000093	T	0.05777	0.0151	N	0.03050	-0.425	0.38345	D	0.944171	B;B;B;B;B;B;B;B;B	0.18310	0.0;0.016;0.001;0.027;0.0;0.0;0.001;0.0;0.01	B;B;B;B;B;B;B;B;B	0.23150	0.001;0.015;0.001;0.044;0.0;0.001;0.002;0.0;0.003	T	0.24977	-1.0145	10	0.09590	T	0.72	-5.2262	5.6177	0.17440	0.1509:0.0821:0.0:0.767	.	502;526;366;628;526;484;455;366;523	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	A	526;366;526;484;502;502;455;396;628	ENSP00000346440:T526A;ENSP00000409447:T366A;ENSP00000348374:T526A;ENSP00000439656:T484A;ENSP00000445202:T502A;ENSP00000440731:T502A;ENSP00000441562:T455A;ENSP00000439827:T396A;ENSP00000381382:T628A	ENSP00000346440:T526A	T	-	1	0	TCF4	51050811	0.997000	0.39634	1.000000	0.80357	0.979000	0.70002	0.581000	0.23819	0.872000	0.35775	0.383000	0.25322	ACG	TCF4-010	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421639.1		-	ENST00000561992.1	Missense_Mutation	SNP	18 : 52899813 - 52899813 C PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	283	123
TDRD1	56165	broad.mit.edu	37	10	115970681	115970681	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr10:115970681G>T	ENST00000369280.1	+	13	2075	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	TDRD1_ENST00000369281.2_Missense_Mutation_p.D539Y|TDRD1_ENST00000422662.1_Missense_Mutation_p.D200Y|TDRD1_ENST00000369282.1_Missense_Mutation_p.D539Y|TDRD1_ENST00000251864.2_Missense_Mutation_p.D539Y			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	539					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCCACGCTCTGATTTTTATCC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	108	112			NA	NA	10		NA											NA				115970681		2203	4300	6503	SO:0001583	missense			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627	56165	56165		Tudor domain containing	11712	protein-coding gene	gene with protein product	cancer/testis antigen 41.1	605796			NA	11279525	Standard		NM_198795	NA	Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.1615G>T	10.37:g.115970681G>T	ENSP00000358286:p.Asp539Tyr	NA	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	37		.	.	.	.	.	.	.	.	.	.	G	13.84	2.356797	0.41801	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000369281;ENST00000422662;ENST00000369280	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	5.9	4.05	0.47172	Maternal tudor protein (1);	0.205916	0.39985	N	0.001202	T	0.27098	0.0664	M	0.75884	2.315	0.09310	N	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.81914	0.978;0.973;0.995;0.955;0.991	T	0.07366	-1.0776	10	0.66056	D	0.02	-14.3001	5.4576	0.16600	0.2129:0.0:0.6388:0.1482	.	200;539;539;539;539	Q9BXT4-4;Q9BXT4;B7WPM2;Q9BXT4-3;Q9BXT4-2	.;TDRD1_HUMAN;.;.;.	Y	539;539;539;200;539	ENSP00000358288:D539Y;ENSP00000251864:D539Y;ENSP00000358287:D539Y;ENSP00000402794:D200Y;ENSP00000358286:D539Y	ENSP00000251864:D539Y	D	+	1	0	TDRD1	115960671	0.914000	0.31030	0.540000	0.28089	0.698000	0.40448	1.437000	0.34991	1.498000	0.48600	0.563000	0.77884	GAT	TDRD1-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000050457.2		+	ENST00000369280.1	Missense_Mutation	SNP	10 : 115970681 - 115970681 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	247	86
TMEM87A	25963	broad.mit.edu	37	15	42520944	42520944	+	Silent	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr15:42520944C>T	ENST00000389834.4	-	13	1470	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	TMEM87A_ENST00000448392.1_Silent_p.R341R	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	402						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		TGGTGAAATGCCGATACAAAG	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													126	119	121			NA	NA	15		NA											NA				42520944		2203	4299	6502	SO:0001819	synonymous_variant			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978	25963	25963			24522	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_015497	XM_005254287	NA	Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.1206G>A	15.37:g.42520944C>T		NA	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	37	CCDS32205.1																																																																																			TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000420482.2		-	ENST00000389834.4	Silent	SNP	15 : 42520944 - 42520944 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	455	5
TP53	7157	broad.mit.edu	37	17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATCTCGAAGCGCTCACGCCCA	0.522		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	31	Substitution - Missense(19)|Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)	central_nervous_system(6)|large_intestine(5)|ovary(4)|bone(4)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|liver(1)|peritoneum(1)|lung(1)|kidney(1)	GRCh37	CM981929	TP53	M							56	44	48			NA	NA	17		NA											NA				7574018		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1009C>T	17.37:g.7574018G>A	ENSP00000269305:p.Arg337Cys	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	9.719	1.159246	0.21454	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	D;D	0.95205	-3.64;-3.64	5.43	3.38	0.38709	p53, tetramerisation domain (3);	0.000000	0.85682	D	0.000000	D	0.94321	0.8175	M	0.82323	2.585	0.48341	D	0.999635	P	0.39940	0.696	B	0.40940	0.344	D	0.93083	0.6493	10	0.87932	D	0	-7.3279	12.447	0.55657	0.0:0.0:0.6947:0.3053	.	337	P04637	P53_HUMAN	C	337;337;326	ENSP00000269305:R337C;ENSP00000391478:R337C	ENSP00000269305:R337C	R	-	1	0	TP53	7514743	0.558000	0.26554	0.006000	0.13384	0.274000	0.26718	1.012000	0.29924	0.615000	0.30124	0.561000	0.74099	CGC	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367397.1		-	ENST00000269305.4	Missense_Mutation	SNP	17 : 7574018 - 7574018 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	101	45
TTLL12	23170	broad.mit.edu	37	22	43575882	43575882	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr22:43575882G>A	ENST00000216129.6	-	4	734	c.671C>T	c.(670-672)aCg>aTg	p.T224M		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	224					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCACAGCAGCGTGTAGGCCAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	45	47			NA	NA	22		NA											NA				43575882		2203	4300	6503	SO:0001583	missense			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304	23170	23170		Tubulin tyrosine ligase-like family	28974	protein-coding gene	gene with protein product					NA	15890843	Standard	NM_015140	NM_015140	NA	Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.671C>T	22.37:g.43575882G>A	ENSP00000216129:p.Thr224Met	NA	Q20WK5|Q9UGU3	37	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906526	0.72868	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.54479	0.57	5.55	5.55	0.83447	.	0.057372	0.64402	D	0.000001	T	0.63426	0.2510	M	0.77820	2.39	0.58432	D	0.999999	D;D	0.53462	0.96;0.96	P;P	0.46237	0.508;0.508	T	0.70590	-0.4830	10	0.87932	D	0	-2.0841	19.5034	0.95105	0.0:0.0:1.0:0.0	.	224;224	B1AH89;Q14166	.;TTL12_HUMAN	M	224	ENSP00000216129:T224M	ENSP00000216129:T224M	T	-	2	0	TTLL12	41905826	1.000000	0.71417	1.000000	0.80357	0.206000	0.24218	9.272000	0.95707	2.593000	0.87608	0.655000	0.94253	ACG	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319611.1		-	ENST00000216129.6	Missense_Mutation	SNP	22 : 43575882 - 43575882 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	160	4
UGT8	7368	broad.mit.edu	37	4	115597336	115597336	+	Silent	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr4:115597336G>A	ENST00000310836.6	+	6	2040	c.1518G>A	c.(1516-1518)ctG>ctA	p.L506L	UGT8_ENST00000394511.3_Silent_p.L506L	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	506					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		TCAAAAGTCTGTGGTCTAGAA	0.353		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	78	80			NA	NA	4		NA											NA				115597336		2203	4300	6503	SO:0001819	synonymous_variant			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	7368	7368	2.4.1.45	UDP glucuronosyltransferases	12555	protein-coding gene	gene with protein product	2-hydroxyacylsphingosine 1-beta-galactosyltransferase	601291	UDP-galactose ceramide galactosyltransferase	CGT	NA	8661025	Standard	NM_003360	NM_003360	NA	Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1518G>A	4.37:g.115597336G>A		NA	B3KXU7|O00196	37	CCDS3705.1																																																																																			UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256426.2		+	ENST00000310836.6	Silent	SNP	4 : 115597336 - 115597336 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	399	70
UNC5D	137970	broad.mit.edu	37	8	35608224	35608224	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr8:35608224C>T	ENST00000287272.2	+	12	1873	c.1853C>T	c.(1852-1854)gCc>gTc	p.A618V	UNC5D_ENST00000416672.1_Missense_Mutation_p.A692V|UNC5D_ENST00000420357.1_Missense_Mutation_p.A620V|UNC5D_ENST00000449677.1_Missense_Mutation_p.A263V|UNC5D_ENST00000404895.2_Missense_Mutation_p.A687V|UNC5D_ENST00000453357.2_Missense_Mutation_p.A682V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	687	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity	p.A682V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACAGACTGTGCCGTGAAGCAA	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	prostate(1)											253	210	225			NA	NA	8		NA											NA				35608224		2203	4300	6503	SO:0001583	missense			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687	137970	137970		Immunoglobulin superfamily / I-set domain containing	18634	protein-coding gene	gene with protein product					NA	18402767	Standard		NM_080872	NA	Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000287272.2:c.1853C>T	8.37:g.35608224C>T	ENSP00000287272:p.Ala618Val	NA	Q8WYP7	37		.	.	.	.	.	.	.	.	.	.	C	35	5.426783	0.96131	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.60299	0.23;0.64;0.63;0.23;0.2;2.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72542	0.3473	M	0.83483	2.645	0.80722	D	1	D;P;P	0.56035	0.974;0.911;0.914	P;P;B	0.50490	0.638;0.642;0.439	T	0.76817	-0.2819	10	0.87932	D	0	-23.3889	20.2822	0.98520	0.0:1.0:0.0:0.0	.	263;682;687	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	V	687;620;618;692;682;263	ENSP00000385143:A687V;ENSP00000392739:A620V;ENSP00000287272:A618V;ENSP00000412652:A692V;ENSP00000394303:A682V;ENSP00000397211:A263V	ENSP00000287272:A618V	A	+	2	0	UNC5D	35727766	1.000000	0.71417	0.987000	0.45799	0.959000	0.62525	5.359000	0.66074	2.806000	0.96561	0.655000	0.94253	GCC	UNC5D-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000347597.1		+	ENST00000287272.2	Missense_Mutation	SNP	8 : 35608224 - 35608224 T PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	397	5
ZNF548	147694	broad.mit.edu	37	19	57910947	57910947	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:57910947G>A	ENST00000366197.5	+	3	1542	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.R443H	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATTCTTTCGTTACAACTCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	58	57			NA	NA	19		NA											NA				57910947		2198	4298	6496	SO:0001583	missense			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785	147694	147694		Zinc fingers, C2H2-type, -	26561	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152909	NM_152909	NA	Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1292G>A	19.37:g.57910947G>A	ENSP00000379482:p.Arg431His	NA	Q96M05	37	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188809	0.38609	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	T;T	0.08102	3.13;3.13	2.2	-0.194	0.13240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09113	0.0225	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.997;0.998	P;P	0.54759	0.647;0.76	T	0.23619	-1.0183	9	0.56958	D	0.05	.	1.1705	0.01824	0.1298:0.1918:0.2883:0.3902	.	443;431	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	H	443;431	ENSP00000337555:R443H;ENSP00000379482:R431H	ENSP00000337555:R443H	R	+	2	0	ZNF548	62602759	0.000000	0.05858	0.000000	0.03702	0.938000	0.57974	-7.192000	0.00042	0.045000	0.15804	0.563000	0.77884	CGT	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465937.1		+	ENST00000366197.5	Missense_Mutation	SNP	19 : 57910947 - 57910947 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	319	7
ZSCAN18	65982	broad.mit.edu	37	19	58596116	58596116	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUN-01A-12D-A38G-08	TCGA-IB-AAUN-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	1c613c8d-8ef7-44da-8a5f-ed1ec5652f85	15447e58-6c71-422c-ae2a-31be9bc175d5	g.chr19:58596116G>A	ENST00000240727.6	-	7	1868	c.1469C>T	c.(1468-1470)gCg>gTg	p.A490V	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.A354V|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.A546V|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.A490V	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	490					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACCGCCCGCCCTAGCCCC	0.741		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9995	,	,	NA	3e-04	NA	NA	NA	7e-04	0.6929	EXOME	NA	NA	4e-04	SNP								NA				0													7	8	7			NA	NA	19		NA											NA				58596116		2071	4053	6124	SO:0001583	missense			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413	65982	65982		-, Zinc fingers, C2H2-type	21037	protein-coding gene	gene with protein product			zinc finger protein 447	ZNF447	NA		Standard	NM_023926	NM_001145542	NA	Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1469C>T	19.37:g.58596116G>A	ENSP00000240727:p.Ala490Val	NA	Q9BRK7|Q9H9A0	37	CCDS12971.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.994	0.553622	0.13374	.	.	ENSG00000121413	ENST00000433686;ENST00000240727;ENST00000421612	T;T	0.02656	4.47;4.21	3.41	-0.0245	0.13938	.	2.404210	0.02978	N	0.145247	T	0.02455	0.0075	N	0.12182	0.205	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.45673	-0.9245	10	0.56958	D	0.05	.	7.1996	0.25873	0.5187:0.0:0.4813:0.0	.	546;354;489;490	B4DG23;E9PBI0;Q8TBC5-2;Q8TBC5	.;.;.;ZSC18_HUMAN	V	546;490;354	ENSP00000240727:A490V;ENSP00000392653:A354V	ENSP00000240727:A490V	A	-	2	0	ZSCAN18	63287928	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.557000	0.05985	-0.070000	0.12908	-0.254000	0.11334	GCG	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466706.1		-	ENST00000240727.6	Missense_Mutation	SNP	19 : 58596116 - 58596116 A PAAD-TCGA-IB-AAUN-Tumor-SM-5W7V6	40	16
