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
ADAM20	8748	broad.mit.edu	37	14	70991279	70991279	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:70991279G>A	ENST00000256389.3	-	2	590	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	66					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCCAAACCGCAGGCTATAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	86	95			NA	NA	14		NA											NA				70991279		2203	4300	6503	SO:0001583	missense			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007	8748	8748		ADAM metallopeptidase domain containing	199	protein-coding gene	gene with protein product		603712	a disintegrin and metalloproteinase domain 20		NA	9469942	Standard		NM_003814	NA	Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.346C>T	14.37:g.70991279G>A	ENSP00000256389:p.Arg116Trp	NA	Q6GTZ1|Q9UKJ9	37	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232779	0.05983	.	.	ENSG00000134007	ENST00000256389	T	0.07216	3.21	4.14	-1.25	0.09405	Peptidase M12B, propeptide (1);	0.844512	0.09575	U	0.783660	T	0.07369	0.0186	L	0.54323	1.7	0.09310	N	1	B	0.26602	0.154	B	0.24269	0.052	T	0.40794	-0.9544	10	0.59425	D	0.04	.	1.3442	0.02160	0.2309:0.1227:0.4097:0.2367	.	66	O43506	ADA20_HUMAN	W	116	ENSP00000256389:R116W	ENSP00000256389:R116W	R	-	1	2	ADAM20	70061032	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-0.996000	0.03709	-0.123000	0.11745	0.650000	0.86243	CGG	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395004.2		-	ENST00000256389.3	Missense_Mutation	SNP	14 : 70991279 - 70991279 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	353	5
ADRA2B	151	broad.mit.edu	37	2	96780765	96780765	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:96780765C>T	ENST00000409345.3	-	1	1219	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	378					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CACAAAAACGCCAATGACCAC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	58	56			NA	NA	2		NA											NA				96780765		2197	4292	6489	SO:0001583	missense			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286	151	151		GPCR / Class A : Adrenoceptors : alpha	282	protein-coding gene	gene with protein product		104260	adrenergic, alpha-2B-, receptor	ADRA2L1, ADRA2RL1	NA	2164221	Standard		NM_000682	NA	Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.1124G>A	2.37:g.96780765C>T	ENSP00000387281:p.Gly375Asp	NA	Q4TUH9|Q53RF2|Q9BZK0	37	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308310	0.81247	.	.	ENSG00000222040	ENST00000409345	T	0.38560	1.13	5.61	5.61	0.85477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.81346	0.4803	H	0.99682	4.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89685	0.3893	9	0.87932	D	0	.	17.1963	0.86893	0.0:1.0:0.0:0.0	.	378	P18089	ADA2B_HUMAN	D	375	ENSP00000387281:G375D	ENSP00000387281:G375D	G	-	2	0	ADRA2B	96144492	1.000000	0.71417	0.421000	0.26609	0.650000	0.38633	7.810000	0.86072	2.658000	0.90341	0.551000	0.68910	GGC	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334990.1		-	ENST00000409345.3	Missense_Mutation	SNP	2 : 96780765 - 96780765 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	125	29
AHNAK2	113146	broad.mit.edu	37	14	105412407	105412407	+	Silent	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:105412407C>A	ENST00000557457.1	-	2	24				AHNAK2_ENST00000333244.5_Silent_p.G3127G			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	ovary(1)						A		0,3924		0,0,1962	152	129	136		9381	-6.6	0	14		136	2,8232		0,2,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6077	AA,AC,CC	NA	0.0243,0.0,0.0165		3127/5796	105412407	2,12156	1962	4117	6079	SO:0001627	intron_variant			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567	113146	113146			20125	protein-coding gene	gene with protein product		608570	chromosome 14 open reading frame 78	C14orf78	NA	15007166	Standard	NM_138420	NM_138420	NA	Approved		uc010axc.1	Q8IVF2		ENST00000557457.1:c.220-5092G>T	14.37:g.105412407C>A		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37																																																																																				AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105412407 - 105412407 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	520	6
AIRE	326	broad.mit.edu	37	21	45710997	45710997	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr21:45710997C>T	ENST00000291582.5	+	8	1026	c.899C>T	c.(898-900)gCc>gTc	p.A300V	AIRE_ENST00000329347.4_Missense_Mutation_p.A93V|AIRE_ENST00000355347.4_Missense_Mutation_p.A93V	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	300					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding	p.A103V(1)|p.A300V(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GACGAGTGTGCCGTGTGTCGG	0.657		NA							Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)											99	83	89			NA	NA	21		NA											NA				45710997		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	APECED	AB006684	CCDS13706.1	21q22.3	2014-09-17	2007-06-20		ENSG00000160224	ENSG00000160224	326	326		Zinc fingers, PHD-type	360	protein-coding gene	gene with protein product	autoimmune polyendocrinopathy candidiasis ectodermal dystrophy	607358	autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)	APECED	NA	9398840	Standard		NM_000383	NA	Approved	PGA1, APS1	uc002zei.3	O43918	OTTHUMG00000086921	ENST00000291582.5:c.899C>T	21.37:g.45710997C>T	ENSP00000291582:p.Ala300Val	NA	O43922|O43932|O75745	37	CCDS13706.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920439	0.52653	.	.	ENSG00000160224	ENST00000291582;ENST00000337909;ENST00000397994;ENST00000355347;ENST00000329347	D;D;D	0.94497	-3.44;-3.44;-3.44	3.86	2.96	0.34315	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.44902	D	0.000411	D	0.93536	0.7937	N	0.21142	0.635	0.52099	D	0.999946	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	D	0.91753	0.5414	10	0.48119	T	0.1	-32.3727	8.9219	0.35617	0.2232:0.7768:0.0:0.0	.	103;300	B2RP50;O43918	.;AIRE_HUMAN	V	300;103;103;93;93	ENSP00000291582:A300V;ENSP00000347505:A93V;ENSP00000331055:A93V	ENSP00000291582:A300V	A	+	2	0	AIRE	44535425	1.000000	0.71417	0.089000	0.20774	0.196000	0.23810	6.738000	0.74822	0.725000	0.32318	0.462000	0.41574	GCC	AIRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195842.2		+	ENST00000291582.5	Missense_Mutation	SNP	21 : 45710997 - 45710997 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	487	7
ALG13	79868	broad.mit.edu	37	X	110980099	110980099	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:110980099G>A	ENST00000394780.3	+	23	2699	c.2687G>A	c.(2686-2688)gGc>gAc	p.G896D	ALG13_ENST00000251943.4_Missense_Mutation_p.G792D|ALG13_ENST00000470971.1_3'UTR	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	896	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CCTACACACGGCAGGCCAGGT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													200	173	181			NA	NA	X		NA											NA				110980099		1568	3582	5150	SO:0001583	missense			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	79868	79868	2.4.1.141	Tudor domain containing, OTU domain containing	30881	protein-coding gene	gene with protein product	tudor domain containing 13, N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase	300776	glycosyltransferase 28 domain containing 1, chromosome X open reading frame 45, asparagine-linked glycosylation 13 homolog (S. cerevisiae)	GLT28D1, CXorf45	NA	12477932	Standard	NM_018466	NM_018466	NA	Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.2687G>A	X.37:g.110980099G>A	ENSP00000378260:p.Gly896Asp	NA	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	37	CCDS55477.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.841823	0.32513	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000436609	T;T	0.33865	1.39;3.01	5.49	2.7	0.31948	.	0.548871	0.20332	N	0.094419	T	0.48150	0.1484	L	0.58101	1.795	0.09310	N	1	B;B;D	0.67145	0.082;0.049;0.996	B;B;P	0.62184	0.04;0.018;0.899	T	0.33085	-0.9882	10	0.28530	T	0.3	1.5933	10.6013	0.45369	0.2322:0.0:0.7678:0.0	.	818;896;792	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	D	792;896;529	ENSP00000251943:G792D;ENSP00000378260:G896D	ENSP00000251943:G792D	G	+	2	0	ALG13	110866755	0.055000	0.20627	0.049000	0.19019	0.885000	0.51271	0.494000	0.22467	0.596000	0.29794	0.600000	0.82982	GGC	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000272895.1		+	ENST00000394780.3	Missense_Mutation	SNP	X : 110980099 - 110980099 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	819	6
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	425	5
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:37486356G>C	ENST00000374660.1	+	35	2952	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1000						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	78	81			NA	NA	10		NA											NA				37486356		1801	4060	5861	SO:0001583	missense			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513	91074	91074		Ankyrin repeat domain containing	17234	protein-coding gene	gene with protein product	breast cancer antigen NY-BR-1	610856			NA	11280766	Standard	NM_052997	NM_052997	NA	Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000374660.1:c.2853G>C	10.37:g.37486356G>C	ENSP00000363792:p.Lys951Asn	NA	Q5W025	37		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG	ANKRD30A-002	PUTATIVE	NMD_exception|basic	protein_coding	NA	protein_coding	OTTHUMT00000047589.2		+	ENST00000374660.1	Missense_Mutation	SNP	10 : 37486356 - 37486356 C PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	339	4
BEND2	139105	broad.mit.edu	37	X	18183254	18183254	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:18183254G>A	ENST00000380033.4	-	14	2407	c.2275C>T	c.(2275-2277)Cgt>Tgt	p.R759C		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	759	BEN 2.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CTAAGGCTACGGATACCGCTG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	173	181			NA	NA	X		NA											NA				18183254		2203	4300	6503	SO:0001583	missense			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324	139105	139105		BEN domain containing	28509	protein-coding gene	gene with protein product			chromosome X open reading frame 20	CXorf20	NA	12477932	Standard	NM_153346	NM_153346	NA	Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2275C>T	X.37:g.18183254G>A	ENSP00000369372:p.Arg759Cys	NA	Q5JXE5	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879159	0.51801	.	.	ENSG00000177324	ENST00000380033	T	0.52295	0.67	5.69	1.73	0.24493	BEN domain (2);	0.351432	0.26065	N	0.026542	T	0.34774	0.0909	L	0.52759	1.655	0.09310	N	1	D	0.53151	0.958	B	0.39027	0.288	T	0.32719	-0.9896	10	0.87932	D	0	-1.0766	5.6482	0.17602	0.2622:0.138:0.5998:0.0	.	759	Q8NDZ0	BEND2_HUMAN	C	759	ENSP00000369372:R759C	ENSP00000369372:R759C	R	-	1	0	BEND2	18093175	0.107000	0.21998	0.000000	0.03702	0.028000	0.11728	0.794000	0.26958	-0.077000	0.12752	-0.268000	0.10319	CGT	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055940.1		-	ENST00000380033.4	Missense_Mutation	SNP	X : 18183254 - 18183254 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	853	240
BMP1	649	broad.mit.edu	37	8	22064900	22064900	+	Missense_Mutation	SNP	C	C	T	rs150161793		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:22064900C>T	ENST00000306385.5	+	18	3116	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	816	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CGCCAAGGCCCCCGTCCTCGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	80	78			NA	NA	8		NA											NA				22064900		2203	4300	6503	SO:0001583	missense				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	649	649	3.4.24.19	Bone morphogenetic proteins	1067	protein-coding gene	gene with protein product	procollagen C-endopeptidase	112264	procollagen C-endopeptidase	PCOLC	NA	2004778	Standard	NM_006132	NM_006129	NA	Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2446C>T	8.37:g.22064900C>T	ENSP00000305714:p.Pro816Ser	NA	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	37	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927502	0.73327	.	.	ENSG00000168487	ENST00000306385	T	0.30182	1.54	5.26	4.38	0.52667	CUB (5);	0.412825	0.17745	U	0.163437	T	0.34193	0.0889	L	0.48986	1.54	0.80722	D	1	B	0.23540	0.087	B	0.33690	0.168	T	0.08166	-1.0735	10	0.33141	T	0.24	.	14.7938	0.69863	0.0:0.8544:0.1456:0.0	.	816	P13497	BMP1_HUMAN	S	816	ENSP00000305714:P816S	ENSP00000305714:P816S	P	+	1	0	BMP1	22120845	0.989000	0.36119	0.182000	0.23118	0.911000	0.54048	4.070000	0.57548	1.204000	0.43247	0.561000	0.74099	CCC	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214995.2		+	ENST00000306385.5	Missense_Mutation	SNP	8 : 22064900 - 22064900 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	643	141
BRSK1	84446	broad.mit.edu	37	19	55814225	55814225	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:55814225C>T	ENST00000326848.7	+	2	311	c.103C>T	c.(103-105)Cgc>Tgc	p.R35C	BRSK1_ENST00000590333.1_Missense_Mutation_p.R356C|BRSK1_ENST00000309383.1_Missense_Mutation_p.R340C|BRSK1_ENST00000585418.1_Missense_Mutation_p.R340C			Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	340	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCGCGAGCTGCGCAGTGAGGA	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	44	48			NA	NA	19		NA											NA				55814225		2203	4300	6503	SO:0001583	missense			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469	84446	84446			18994	protein-coding gene	gene with protein product		609235			NA	14976552	Standard	NM_032430	NM_032430	NA	Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000326848.7:c.103C>T	19.37:g.55814225C>T	ENSP00000320853:p.Arg35Cys	NA	F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	37		.	.	.	.	.	.	.	.	.	.	.	16.92	3.256628	0.59321	.	.	ENSG00000160469	ENST00000309383;ENST00000543410;ENST00000326848	T;T	0.72167	-0.63;1.95	4.69	3.62	0.41486	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);	0.301128	0.28865	N	0.013882	T	0.66157	0.2761	N	0.08118	0	0.49483	D	0.999797	D;D	0.71674	0.996;0.998	P;P	0.61201	0.771;0.885	T	0.72620	-0.4238	10	0.72032	D	0.01	.	13.1288	0.59369	0.1618:0.8382:0.0:0.0	.	340;356	Q8TDC3;Q8TDC3-2	BRSK1_HUMAN;.	C	340;35;35	ENSP00000310649:R340C;ENSP00000320853:R35C	ENSP00000310649:R340C	R	+	1	0	BRSK1	60506037	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.281000	0.43452	1.075000	0.40932	0.655000	0.94253	CGC	BRSK1-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000452790.1		+	ENST00000326848.7	Missense_Mutation	SNP	19 : 55814225 - 55814225 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	297	79
C4A	720	broad.mit.edu	37	6	31964274	31964274	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:31964274C>T	ENST00000428956.2	+	28	3657	c.3573C>T	c.(3571-3573)caC>caT	p.H1191H	C4A_ENST00000498271.1_Silent_p.H1191H	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)	NA											NA						TGGGTGCCCACGCAGCTGCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	76	72			NA	NA	6		NA											NA				31964274		1553	3533	5086	SO:0001819	synonymous_variant			L26261, M14823, X77491, AY224378	CCDS47404.1, CCDS59005.1	6p21.3	2014-09-17	2006-01-19		ENSG00000244731	ENSG00000244731	720	720		Blood group antigens, Complement system	1323	protein-coding gene	gene with protein product		120810	complement component 4A		NA		Standard	NM_007293	NM_001252204	NA	Approved	CPAMD2, C4S, CO4, C4, C4A3, C4A2, C4A4, C4A6, C4B, RG		P0C0L4	OTTHUMG00000031186	ENST00000428956.2:c.3573C>T	6.37:g.31964274C>T		NA		37	CCDS47404.1																																																																																			C4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000076364.3		+	ENST00000428956.2	Silent	SNP	6 : 31964274 - 31964274 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	517	18
CELSR2	1952	broad.mit.edu	37	1	109806332	109806332	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:109806332G>A	ENST00000271332.3	+	9	4995	c.4934G>A	c.(4933-4935)cGc>cAc	p.R1645H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1645	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCATGTTCCGCACGCGCCAG	0.662		NA									OREG0013632	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		NSCLC(158;1285 2011 34800 34852 42084)							NA				0													74	72	73			NA	NA	1		NA											NA				109806332		2203	4300	6503	SO:0001583	missense			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126	1952	1952		Cadherins / Major cadherins, -, GPCR / Class B : Orphans	3231	protein-coding gene	gene with protein product		604265	cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog	EGFL2	NA	9693030, 10907856	Standard	NM_001408	NM_001408	NA	Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.4934G>A	1.37:g.109806332G>A	ENSP00000271332:p.Arg1645His	1422	Q5T2Y7|Q92566	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924399	0.92319	.	.	ENSG00000143126	ENST00000271332	T	0.74737	-0.87	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.86297	0.5899	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.87909	0.2696	9	0.87932	D	0	.	18.3881	0.90473	0.0:0.0:1.0:0.0	.	1645	Q9HCU4	CELR2_HUMAN	H	1645	ENSP00000271332:R1645H	ENSP00000271332:R1645H	R	+	2	0	CELSR2	109607855	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.156000	0.94705	2.686000	0.91538	0.561000	0.74099	CGC	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Missense_Mutation	SNP	1 : 109806332 - 109806332 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	524	6
CFH	3075	broad.mit.edu	37	1	196714957	196714957	+	Silent	SNP	A	A	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:196714957A>C	ENST00000367429.4	+	21	3561	c.3321A>C	c.(3319-3321)ggA>ggC	p.G1107G		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1107	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTCTACAGGAAAATGTGGGC	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	152	155			NA	NA	1		NA											NA				196714957		2203	4300	6503	SO:0001819	synonymous_variant			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971	3075	3075		Complement system	4883	protein-coding gene	gene with protein product	beta-1H, H factor 2 (complement), age-related maculopathy susceptibility 1	134370	H factor 1 (complement)	HF, HF1, HF2	NA	2889480, 2963625	Standard	NM_000186	NM_000186	NA	Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3321A>C	1.37:g.196714957A>C		NA	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	37	CCDS1385.1																																																																																			CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000086412.2		+	ENST00000367429.4	Silent	SNP	1 : 196714957 - 196714957 C PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	641	152
CHD7	55636	broad.mit.edu	37	8	61654852	61654852	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:61654852G>A	ENST00000423902.2	+	2	1340	c.861G>A	c.(859-861)ccG>ccA	p.P287P	CHD7_ENST00000524602.1_Silent_p.P287P|CHD7_ENST00000525508.1_Silent_p.P287P	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	287					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.P287P(2)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CTGTTAGGCCGCAAACCCTTA	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - coding silent(2)	lung(2)											96	96	96			NA	NA	8		NA											NA				61654852		1909	4121	6030	SO:0001819	synonymous_variant			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316	55636	55636			20626	protein-coding gene	gene with protein product		608892	CHARGE association	CRG	NA	15300250, 18834967	Standard	XM_098762	NM_017780	NA	Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.861G>A	8.37:g.61654852G>A		NA	Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	37	CCDS47865.1																																																																																			CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383468.2		+	ENST00000423902.2	Silent	SNP	8 : 61654852 - 61654852 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	619	6
CILP	8483	broad.mit.edu	37	15	65489559	65489559	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:65489559C>T	ENST00000261883.4	-	9	3231	c.3065G>A	c.(3064-3066)cGc>cAc	p.R1022H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	1022					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.R1022H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CACCAGGGTGCGGTCCACACG	0.592		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)											103	70	81			NA	NA	15		NA											NA				65489559		2202	4299	6501	SO:0001583	missense			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615	8483	8483		Immunoglobulin superfamily / Immunoglobulin-like domain containing	1980	protein-coding gene	gene with protein product		603489			NA	9722584, 9722583	Standard	NM_003613	NM_003613	NA	Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.3065G>A	15.37:g.65489559C>T	ENSP00000261883:p.Arg1022His	NA	B2R8F7|Q6UW99|Q8IYI5	37	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166182	0.78339	.	.	ENSG00000138615	ENST00000261883	T	0.11277	2.79	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.08472	-1.0720	10	0.72032	D	0.01	-3.9489	18.4768	0.90795	0.0:1.0:0.0:0.0	.	1022	O75339	CILP1_HUMAN	H	1022	ENSP00000261883:R1022H	ENSP00000261883:R1022H	R	-	2	0	CILP	63276612	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.795000	0.85887	2.608000	0.88229	0.655000	0.94253	CGC	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256829.1		-	ENST00000261883.4	Missense_Mutation	SNP	15 : 65489559 - 65489559 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	319	5
CNOT3	4849	broad.mit.edu	37	19	54646728	54646728	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54646728G>A	ENST00000406403.1	+	1	1617	c.14G>A	c.(13-15)cGc>cAc	p.R5H	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.R5H			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	5					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCGGACAAGCGCAAACTCCAA	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	161	173			NA	NA	19		NA											NA				54646728		2203	4300	6503	SO:0001583	missense			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038	4849	4849			7879	protein-coding gene	gene with protein product	NOT3 (negative regulator of transcription 3, yeast) homolog	604910		NOT3	NA	10637334, 9734811	Standard	NM_014516	NM_014516	NA	Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.14G>A	19.37:g.54646728G>A	ENSP00000383954:p.Arg5His	NA	Q9NZN7|Q9UF76	37	CCDS12880.1	.	.	.	.	.	.	.	.	.	.	G	30	5.051461	0.93793	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.73363	-0.74;-0.74	4.87	4.87	0.63330	Not CCR4-Not complex component, N-terminal (1);	0.135232	0.48286	D	0.000197	D	0.88328	0.6407	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.90703	0.4622	10	0.87932	D	0	-24.7136	15.3142	0.74059	0.0:0.0:1.0:0.0	.	5;5	B7Z6J7;O75175	.;CNOT3_HUMAN	H	5	ENSP00000221232:R5H;ENSP00000383954:R5H	ENSP00000221232:R5H	R	+	2	0	CNOT3	59338540	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.832000	0.86757	2.429000	0.82318	0.655000	0.94253	CGC	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000142130.3		+	ENST00000406403.1	Missense_Mutation	SNP	19 : 54646728 - 54646728 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	523	6
CSMD3	114788	broad.mit.edu	37	8	113697844	113697844	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:113697844C>T	ENST00000297405.5	-	15	2517	c.2273G>A	c.(2272-2274)cGg>cAg	p.R758Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R654Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R758Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R718Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	758	CUB 4.					integral to membrane|plasma membrane		p.R758Q(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGATGTATCCGGCTCCCTGG	0.413		NA								HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)											99	107	104			NA	NA	8		NA											NA				113697844		2203	4299	6502	SO:0001583	missense			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796	114788	114788			19291	protein-coding gene	gene with protein product		608399			NA		Standard	NM_052900	NM_052900	NA	Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2273G>A	8.37:g.113697844C>T	ENSP00000297405:p.Arg758Gln	NA	Q96PZ3	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606831	0.87157	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.96	5.96	0.96718	CUB (5);	0.000000	0.64402	D	0.000002	T	0.40297	0.1111	L	0.56199	1.76	0.43145	D	0.994906	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.994;0.998;0.999	T	0.00970	-1.1496	10	0.34782	T	0.22	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	654;758;718	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	718;758;98;654;758	ENSP00000345799:R718Q;ENSP00000297405:R758Q;ENSP00000341558:R98Q;ENSP00000412263:R654Q;ENSP00000343124:R758Q	ENSP00000297405:R758Q	R	-	2	0	CSMD3	113767020	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	CGG	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000347141.1		-	ENST00000297405.5	Missense_Mutation	SNP	8 : 113697844 - 113697844 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	466	85
EPS15L1	58513	broad.mit.edu	37	19	16551706	16551706	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:16551706G>A	ENST00000597937.1	-	4	184	c.180C>T	c.(178-180)gcC>gcT	p.A60A	EPS15L1_ENST00000535753.2_Silent_p.A60A|EPS15L1_ENST00000455140.2_Silent_p.A60A|EPS15L1_ENST00000594975.1_Silent_p.A60A|EPS15L1_ENST00000248070.6_Silent_p.A60A	NM_001258376.1	NP_001245305.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	60	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTTCTGGATCGGCCAAGTCCC	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													243	247	245			NA	NA	19		NA											NA				16551706		2203	4300	6503	SO:0001819	synonymous_variant			AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527	58513	58513		EF-hand domain containing	24634	protein-coding gene	gene with protein product					NA		Standard	NM_021235	NM_001258374	NA	Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000597937.1:c.180C>T	19.37:g.16551706G>A		NA		37	CCDS59363.1																																																																																			EPS15L1-007	PUTATIVE	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461045.1		-	ENST00000597937.1	Silent	SNP	19 : 16551706 - 16551706 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	1323	7
EPS8L2	64787	broad.mit.edu	37	11	722431	722431	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:722431G>A	ENST00000533256.1	+	14	1465	c.1090G>A	c.(1090-1092)Gca>Aca	p.A364T	EPS8L2_ENST00000530636.1_Missense_Mutation_p.A364T|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Missense_Mutation_p.A380T|EPS8L2_ENST00000318562.8_Missense_Mutation_p.A364T			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	364						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCAGACATCGCACGCTCCGT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													87	74	79			NA	NA	11		NA											NA				722431		2203	4300	6503	SO:0001583	missense			AF318331	CCDS31328.1	11p15.5	2008-02-05				ENSG00000177106	64787	64787			21296	protein-coding gene	gene with protein product		614988			NA	12620401	Standard	NM_022772	NM_022772	NA	Approved	FLJ21935, FLJ22171, MGC3088	uc001lqt.3	Q9H6S3		ENST00000533256.1:c.1090G>A	11.37:g.722431G>A	ENSP00000435585:p.Ala364Thr	NA	B3KSX1|Q53GM8|Q8WYW7|Q96K06|Q9H6K9	37	CCDS31328.1	.	.	.	.	.	.	.	.	.	.	g	12.62	1.992138	0.35131	.	.	ENSG00000177106	ENST00000318562;ENST00000533256;ENST00000530636;ENST00000526198	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	3.13	2.2	0.27929	.	0.089102	0.43919	U	0.000514	T	0.67896	0.2942	M	0.69823	2.125	0.09310	N	1	D;D	0.89917	0.999;1.0	P;P	0.61275	0.886;0.87	T	0.59225	-0.7494	10	0.87932	D	0	-11.1368	9.2022	0.37265	0.1144:0.0:0.8856:0.0	.	380;364	B7ZKL3;Q9H6S3	.;ES8L2_HUMAN	T	364;364;364;380	ENSP00000320828:A364T;ENSP00000435585:A364T;ENSP00000436035:A364T;ENSP00000436230:A380T	ENSP00000320828:A364T	A	+	1	0	EPS8L2	712431	0.964000	0.33143	0.005000	0.12908	0.689000	0.40095	3.519000	0.53458	0.664000	0.31047	0.486000	0.48141	GCA	EPS8L2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382344.1		+	ENST00000533256.1	Missense_Mutation	SNP	11 : 722431 - 722431 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	258	5
EXOSC5	56915	broad.mit.edu	37	19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:41895788G>A	ENST00000221233.4	-	4	557	c.407C>T	c.(406-408)gCc>gTc	p.A136V	CTC-435M10.3_ENST00000604424.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A98V|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	136					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	55	55			NA	NA	19		NA											NA				41895788		2203	4300	6503	SO:0001583	missense			AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348	56915	56915			24662	protein-coding gene	gene with protein product	exosome component Rrp46	606492			NA	11110791, 11812149	Standard	NM_020158	NM_020158	NA	Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.407C>T	19.37:g.41895788G>A	ENSP00000221233:p.Ala136Val	NA	Q32Q81|Q8NG16|Q96I89	37	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253259	0.80135	.	.	ENSG00000077348	ENST00000221233	T	0.75938	-0.98	5.03	4.0	0.46444	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.160189	0.53938	N	0.000043	T	0.74831	0.3768	M	0.85630	2.765	0.53005	D	0.999964	P	0.46142	0.873	B	0.38378	0.272	T	0.80605	-0.1308	10	0.87932	D	0	-8.6688	12.5828	0.56399	0.0816:0.0:0.9184:0.0	.	136	Q9NQT4	EXOS5_HUMAN	V	136	ENSP00000221233:A136V	ENSP00000221233:A136V	A	-	2	0	EXOSC5	46587628	1.000000	0.71417	0.875000	0.34327	0.987000	0.75469	6.217000	0.72218	1.488000	0.48433	0.650000	0.86243	GCC	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463492.1		-	ENST00000221233.4	Missense_Mutation	SNP	19 : 41895788 - 41895788 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	380	5
FAM211B	0	broad.mit.edu	37	22	24982154	24982154	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:24982154G>A	ENST00000318753.8	-	4	671	c.648C>T	c.(646-648)aaC>aaT	p.N216N	GGT1_ENST00000248923.4_Intron	NM_207644.2	NP_997527.2	Q2VPJ9	LRC6X_HUMAN		216											NA						GTCGGTTGCCGTTGAGCAGGA	0.652		NA											G	1	5e-04	NA	NA	2184	0.0017	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8642	EXOME	NA	NA	0.0031	SNP								NA				0													75	88	84			NA	NA	22		NA											NA				24982154		2152	4258	6410	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000318753.8:c.648C>T	22.37:g.24982154G>A		NA	Q8N0S9|Q8N8B1	37	CCDS42991.1																																																																																			FAM211B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319832.1		-	ENST00000318753.8	Silent	SNP	22 : 24982154 - 24982154 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	547	8
FAM3C	10447	broad.mit.edu	37	7	120991269	120991269	+	Silent	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:120991269A>T	ENST00000359943.3	-	9	735	c.522T>A	c.(520-522)acT>acA	p.T174T		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	174					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					AACCAAGATTAGTAATAGATG	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	71	72			NA	NA	7		NA											NA				120991269		2203	4297	6500	SO:0001819	synonymous_variant			D87120	CCDS5782.1	7q22.1-q31.1	2014-08-14			ENSG00000196937	ENSG00000196937	10447	10447			18664	protein-coding gene	gene with protein product	predicted osteoblast protein, interleukin-like EMT inducer, interleukin-like epithelial-mesenchymal transition inducer	608618			NA	12160727	Standard	NM_001040020	NM_014888	NA	Approved	GS3876, ILEI	uc010lkm.3	Q92520	OTTHUMG00000156979	ENST00000359943.3:c.522T>A	7.37:g.120991269A>T		NA	A6NDN2|A8K3R7	37	CCDS5782.1																																																																																			FAM3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346945.1		-	ENST00000359943.3	Silent	SNP	7 : 120991269 - 120991269 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	270	60
FAT3	120114	broad.mit.edu	37	11	92599977	92599977	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:92599977G>A	ENST00000525166.1	+	21	11301	c.11279G>A	c.(11278-11280)cGt>cAt	p.R3760H	FAT3_ENST00000298047.6_Missense_Mutation_p.R3910H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3910H|FAT3_ENST00000533797.1_Missense_Mutation_p.R245H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3910					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R3910L(2)|p.R485L(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATCTCGGGCCGTGCTGTCAAC	0.627		NA								TCGA Ovarian(4;0.039)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				3	Substitution - Missense(3)	lung(3)											34	39	37			NA	NA	11		NA											NA				92599977		2044	4192	6236	SO:0001583	missense			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	120114	120114		Cadherins / Cadherin-related	23112	protein-coding gene	gene with protein product	cadherin-related family member 10	612483	FAT tumor suppressor homolog 3 (Drosophila)		NA	11811999	Standard	NM_001008781	NM_001008781	NA	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.11279G>A	11.37:g.92599977G>A	ENSP00000432586:p.Arg3760His	NA	B5MDB0|Q96AU6	37		.	.	.	.	.	.	.	.	.	.	G	15.94	2.980435	0.53827	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.72755	0.3500	L	0.61387	1.9	0.80722	D	1	P;B	0.39831	0.69;0.039	B;B	0.30495	0.116;0.023	T	0.71407	-0.4602	9	0.15499	T	0.54	.	19.9934	0.97376	0.0:0.0:1.0:0.0	.	3910;3910	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3910;3910;3760;245	ENSP00000298047:R3910H;ENSP00000387040:R3910H;ENSP00000432586:R3760H;ENSP00000436399:R245H	ENSP00000298047:R3910H	R	+	2	0	FAT3	92239625	1.000000	0.71417	0.964000	0.40570	0.724000	0.41520	6.323000	0.72891	2.732000	0.93576	0.561000	0.74099	CGT	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000335363.3		+	ENST00000525166.1	Missense_Mutation	SNP	11 : 92599977 - 92599977 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	204	49
GLDN	342035	broad.mit.edu	37	15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	141	142			NA	NA	15		NA											NA				51696848		2196	4293	6489	SO:0001583	missense			AY358144	CCDS10140.2	15q15.3	2008-02-05	2005-10-06	2005-10-06	ENSG00000186417	ENSG00000186417	342035	342035			29514	protein-coding gene	gene with protein product		608603	collomin	COLM	NA	16039564, 12642876	Standard	NM_181789	XM_005254338	NA	Approved	CRG-L2, CLOM, colmedin, UNC-112	uc002aba.3	Q6ZMI3	OTTHUMG00000131746	ENST00000335449.6:c.1553C>T	15.37:g.51696848C>T	ENSP00000335196:p.Ala518Val	NA	Q6UXZ7|Q7Z359	37	CCDS10140.2	.	.	.	.	.	.	.	.	.	.	C	33	5.230301	0.95207	.	.	ENSG00000186417	ENST00000335449;ENST00000396399;ENST00000537339	D;D	0.89123	-2.47;-2.47	5.8	5.8	0.92144	Olfactomedin-like (3);	0.000000	0.43110	D	0.000613	D	0.92899	0.7741	L	0.46741	1.465	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.91752	0.5413	10	0.42905	T	0.14	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	518	Q6ZMI3	GLDN_HUMAN	V	518;394;394	ENSP00000335196:A518V;ENSP00000379681:A394V	ENSP00000335196:A518V	A	+	2	0	GLDN	49484140	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.758000	0.94735	0.563000	0.77884	GCC	GLDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254667.2		+	ENST00000335449.6	Missense_Mutation	SNP	15 : 51696848 - 51696848 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	598	5
HIF3A	64344	broad.mit.edu	37	19	46825050	46825050	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:46825050A>G	ENST00000377670.4	+	10	1193	c.1162A>G	c.(1162-1164)Atc>Gtc	p.I388V	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000472815.1_Missense_Mutation_p.I319V|HIF3A_ENST00000600383.1_Missense_Mutation_p.I319V|HIF3A_ENST00000244303.6_Missense_Mutation_p.I319V|HIF3A_ENST00000420102.2_Missense_Mutation_p.I337V|HIF3A_ENST00000300862.3_Missense_Mutation_p.I386V|HIF3A_ENST00000339613.2_Missense_Mutation_p.I332V	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TGGCCCCCGGATCCTTGCCTT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	67	63			NA	NA	19		NA											NA				46825050		2203	4300	6503	SO:0001583	missense			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440	64344	64344		Basic helix-loop-helix proteins	15825	protein-coding gene	gene with protein product		609976			NA	11573933, 11734856	Standard		NM_152794	NA	Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1162A>G	19.37:g.46825050A>G	ENSP00000366898:p.Ile388Val	NA	Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	37	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.499|6.499	0.460253|0.460253	0.12342|0.12342	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000472815|ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102	.|T;T;T;T;T	.|0.64803	.|0.63;-0.11;0.51;0.63;-0.12	4.43|4.43	3.42|3.42	0.39159|0.39159	.|.	.|1.554280	.|0.03882	.|N	.|0.277189	T|T	0.53351|0.53351	0.1791|0.1791	N|N	0.24115|0.24115	0.695|0.695	0.24933|0.24933	N|N	0.991907|0.991907	.|B;B;B;P;B;B;B	.|0.48350	.|0.074;0.048;0.119;0.909;0.073;0.073;0.024	.|B;B;B;P;B;B;B	.|0.48304	.|0.062;0.048;0.067;0.573;0.031;0.031;0.01	T|T	0.43686|0.43686	-0.9376|-0.9376	5|10	.|0.11182	.|T	.|0.66	.|.	6.4511|6.4511	0.21903|0.21903	0.8903:0.0:0.1097:0.0|0.8903:0.0:0.1097:0.0	.|.	.|337;319;386;337;332;388;388	.|F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185	.|.;.;.;.;.;HIF3A_HUMAN;.	G|V	360|388;388;319;332;332;386;337	.|ENSP00000366898:I388V;ENSP00000244303:I319V;ENSP00000341877:I332V;ENSP00000300862:I386V;ENSP00000407771:I337V	.|ENSP00000244302:I388V	D|I	+|+	2|1	0|0	HIF3A|HIF3A	51516890|51516890	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.473000|0.473000	0.32948|0.32948	0.753000|0.753000	0.26376|0.26376	0.874000|0.874000	0.35823|0.35823	0.533000|0.533000	0.62120|0.62120	GAT|ATC	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000280556.3		+	ENST00000377670.4	Missense_Mutation	SNP	19 : 46825050 - 46825050 G PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	936	259
IL22RA1	58985	broad.mit.edu	37	1	24447351	24447351	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:24447351T>C	ENST00000270800.1	-	7	1707	c.1669A>G	c.(1669-1671)Aca>Gca	p.T557A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	557						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TCCAGTTCTGTGGGCTGCTCC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	60	58			NA	NA	1		NA											NA				24447351		2203	4300	6503	SO:0001583	missense			AF286095	CCDS247.1	1p36.11	2009-10-06	2002-12-02	2002-12-06	ENSG00000142677	ENSG00000142677	58985	58985		Interleukins and interleukin receptors	13700	protein-coding gene	gene with protein product		605457	interleukin 22 receptor	IL22R	NA	10875937	Standard		NM_021258	NA	Approved	CRF2-9	uc001biq.2	Q8N6P7	OTTHUMG00000003041	ENST00000270800.1:c.1669A>G	1.37:g.24447351T>C	ENSP00000270800:p.Thr557Ala	NA	A8K839|B2R9Y9|Q9HB22	37	CCDS247.1	.	.	.	.	.	.	.	.	.	.	T	12.49	1.954597	0.34471	.	.	ENSG00000142677	ENST00000270800	T	0.11385	2.78	4.97	-9.84	0.00479	.	2.787690	0.01292	N	0.010041	T	0.07052	0.0179	L	0.27053	0.805	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.08055	0.003;0.003	T	0.23511	-1.0186	10	0.41790	T	0.15	11.0103	8.4218	0.32705	0.1227:0.5662:0.0:0.3111	.	489;557	B4E2V9;Q8N6P7	.;I22R1_HUMAN	A	557	ENSP00000270800:T557A	ENSP00000270800:T557A	T	-	1	0	IL22RA1	24319938	0.000000	0.05858	0.000000	0.03702	0.862000	0.49288	-2.028000	0.01431	-1.664000	0.01479	0.529000	0.55759	ACA	IL22RA1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008412.1		-	ENST00000270800.1	Missense_Mutation	SNP	1 : 24447351 - 24447351 C PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	468	110
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392256.2_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	122	109	113		607,607,607	2.1	0	6		113	0,8600		0,0,4300	no	missense,missense,missense	IYD	NM_001164694.1,NM_001164695.1,NM_203395.2	58,58,58	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign,benign,benign	203/294,203/248,203/290	150715311	1,13005	2203	4300	6503	SO:0001583	missense			AK129950	CCDS5227.1, CCDS55066.1, CCDS55067.1	6q25.1	2006-08-24	2006-08-24	2006-08-24	ENSG00000009765	ENSG00000009765	389434	389434			21071	protein-coding gene	gene with protein product		612025	chromosome 6 open reading frame 71	C6orf71	NA	16316988, 15289438	Standard	NM_203395	NM_001164694	NA	Approved	dJ422F24.1, DEHAL1	uc003qnx.2	Q6PHW0	OTTHUMG00000016347	ENST00000344419.3:c.607G>A	6.37:g.150715311G>A	ENSP00000343763:p.Ala203Thr	NA	Q2VPW0|Q2VPW1|Q5F1L5|Q5F1L6|Q5THM4|Q6ZP69|Q7Z7D7|Q7Z7D8	37	CCDS5227.1	.	.	.	.	.	.	.	.	.	.	g	5.689	0.311597	0.10789	2.27E-4	0.0	ENSG00000009765	ENST00000229447;ENST00000344419;ENST00000392256;ENST00000392255;ENST00000500320;ENST00000425615	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	6.17	2.1	0.27182	Nitroreductase-like (3);	0.509560	0.22264	N	0.062376	T	0.43055	0.1230	L	0.46885	1.475	0.09310	N	1	B;B;B;B	0.20261	0.004;0.043;0.001;0.002	B;B;B;B	0.18561	0.003;0.022;0.001;0.005	T	0.24548	-1.0157	10	0.27785	T	0.31	-23.7178	1.2452	0.01971	0.2372:0.2256:0.3896:0.1475	.	121;203;203;203	Q2VPV9;C9JFW2;Q6PHW0-3;Q6PHW0	.;.;.;IYD1_HUMAN	T	203;203;203;203;203;148	ENSP00000229447:A203T;ENSP00000343763:A203T;ENSP00000376085:A203T;ENSP00000376084:A203T;ENSP00000441276:A203T;ENSP00000390081:A148T	ENSP00000229447:A203T	A	+	1	0	IYD	150757004	0.019000	0.18553	0.001000	0.08648	0.174000	0.22865	0.255000	0.18333	0.496000	0.27904	-0.119000	0.15052	GCA	IYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043754.3		+	ENST00000344419.3	Missense_Mutation	SNP	6 : 150715311 - 150715311 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	299	5
KIAA1468	57614	broad.mit.edu	37	18	59919929	59919929	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr18:59919929C>T	ENST00000256858.6	+	12	2014	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	KIAA1468_ENST00000398130.2_Missense_Mutation_p.A589V			Q9P260	K1468_HUMAN	KIAA1468	589							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTGGCATTTGCGCGTCATGTT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	111	117			NA	NA	18		NA											NA				59919929		2203	4300	6503	SO:0001583	missense			BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444	57614	57614			29289	protein-coding gene	gene with protein product					NA	11973628	Standard	NM_020854	NM_020854	NA	Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000256858.6:c.1766C>T	18.37:g.59919929C>T	ENSP00000256858:p.Ala589Val	NA		37		.	.	.	.	.	.	.	.	.	.	C	34	5.376217	0.95945	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	T;T	0.44482	0.92;0.92	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65344	0.2682	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.91635	0.802;0.999;0.998	T	0.61481	-0.7054	9	.	.	.	-14.7767	20.0621	0.97678	0.0:1.0:0.0:0.0	.	589;589;233	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	V	589	ENSP00000381198:A589V;ENSP00000256858:A589V	.	A	+	2	0	KIAA1468	58070909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.723000	0.84788	2.750000	0.94351	0.655000	0.94253	GCG	KIAA1468-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000450035.1		+	ENST00000256858.6	Missense_Mutation	SNP	18 : 59919929 - 59919929 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	259	5
KIF1A	547	broad.mit.edu	37	2	241680688	241680688	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:241680688G>A	ENST00000320389.7	-	33	3602	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	KIF1A_ENST00000498729.2_Silent_p.G1249G	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1148					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCACTCACTCGCCGTTGGCCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													26	32	30			NA	NA	2		NA											NA				241680688		2105	4223	6328	SO:0001819	synonymous_variant			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294	547	547		Kinesins, Pleckstrin homology (PH) domain containing	888	protein-coding gene	gene with protein product		601255	axonal transport of synaptic vesicles, chromosome 2 open reading frame 20, spastic paraplegia 30 (autosomal recessive)	ATSV, C2orf20, SPG30	NA	7539720, 10323250, 22258533	Standard	NM_138483	NM_001244008	NA	Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3444C>T	2.37:g.241680688G>A		NA	O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964924	0.34659	.	.	ENSG00000130294	ENST00000431776	.	.	.	4.44	1.37	0.22104	.	.	.	.	.	T	0.57125	0.2032	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47911	-0.9080	4	.	.	.	.	8.8409	0.35142	0.0:0.1298:0.3973:0.4729	.	.	.	.	V	72	.	.	A	-	2	0	KIF1A	241329361	0.995000	0.38212	0.978000	0.43139	0.971000	0.66376	0.256000	0.18351	-0.040000	0.13580	0.460000	0.39030	GCG	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324536.3		-	ENST00000320389.7	Silent	SNP	2 : 241680688 - 241680688 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	51	18
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	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-US-A779-Tumor-SM-4WPAQ	112	27
LAIR1	3903	broad.mit.edu	37	19	54872775	54872775	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:54872775C>T	ENST00000391743.3	-	2	338	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	LAIR1_ENST00000391742.2_Missense_Mutation_p.V38M|LAIR1_ENST00000313038.6_Missense_Mutation_p.V31M|LAIR1_ENST00000474878.1_Missense_Mutation_p.V37M|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000348231.4_Missense_Mutation_p.V38M|LAIR1_ENST00000434277.2_Missense_Mutation_p.V37M			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	38						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		AGGGGGATCACGGTGCCTGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/VAL,MET/VAL	2,4404		0,2,2201	100	106	104		112,112	-1.8	0	19		104	1,8599		0,1,4299	yes	missense,missense	LAIR1	NM_002287.3,NM_021706.2	21,21	0,3,6500	TT,TC,CC	NA	0.0116,0.0454,0.0231	benign,benign	38/288,38/271	54872775	3,13003	2203	4300	6503	SO:0001583	missense			AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613	3903	3903		Leukocyte-associated Ig like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6477	protein-coding gene	gene with protein product		602992	leukocyte-associated Ig-like receptor 1		NA	9285412	Standard		XM_005258924	NA	Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391743.3:c.58G>A	19.37:g.54872775C>T	ENSP00000375623:p.Val20Met	NA		37		.	.	.	.	.	.	.	.	.	.	.	13.40	2.225204	0.39300	4.54E-4	1.16E-4	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878;ENST00000438193	T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;5.55	3.16	-1.77	0.07982	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.038110	0.07680	N	0.936945	T	0.22781	0.0550	M	0.72353	2.195	0.09310	N	1	P;B;B;P;P;P	0.49696	0.628;0.448;0.436;0.927;0.626;0.673	B;B;B;P;B;B	0.52554	0.267;0.266;0.118;0.702;0.097;0.323	T	0.28396	-1.0045	10	0.35671	T	0.21	.	6.5499	0.22427	0.0:0.5255:0.0:0.4745	.	38;20;37;37;38;38	Q6GTX8-4;A8MZ84;Q6GTX8-3;D3YTC8;Q6GTX8-2;Q6GTX8	.;.;.;.;.;LAIR1_HUMAN	M	20;38;37;38;31;37;32	ENSP00000375623:V20M;ENSP00000375622:V38M;ENSP00000391003:V37M;ENSP00000301193:V38M;ENSP00000319204:V31M;ENSP00000418998:V37M;ENSP00000392058:V32M	ENSP00000319204:V31M	V	-	1	0	LAIR1	59564587	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.630000	0.05502	-0.205000	0.10219	-0.210000	0.12710	GTG	LAIR1-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000140510.2		-	ENST00000391743.3	Missense_Mutation	SNP	19 : 54872775 - 54872775 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	636	11
LRRC10	376132	broad.mit.edu	37	12	70003865	70003865	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr12:70003865C>T	ENST00000361484.3	-	1	1077	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	252						nucleus				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TAGCGCCTGGCTTTTCTAGGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													100	83	88			NA	NA	12		NA											NA				70003865		2203	4300	6503	SO:0001583	missense			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812	376132	376132			20264	protein-coding gene	gene with protein product		610846			NA	14751244	Standard	NM_201550	NM_201550	NA	Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.754G>A	12.37:g.70003865C>T	ENSP00000355166:p.Ala252Thr	NA	Q6ZVY4	37	CCDS31856.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.599545	0.28534	.	.	ENSG00000198812	ENST00000361484	T	0.58060	0.36	5.63	2.59	0.31030	.	0.485815	0.21421	N	0.074802	T	0.30135	0.0755	N	0.16478	0.41	0.27690	N	0.94614	B	0.06786	0.001	B	0.04013	0.001	T	0.14227	-1.0480	10	0.17832	T	0.49	.	7.034	0.24983	0.0:0.5914:0.1946:0.214	.	252	Q5BKY1	LRC10_HUMAN	T	252	ENSP00000355166:A252T	ENSP00000355166:A252T	A	-	1	0	LRRC10	68290132	0.993000	0.37304	0.998000	0.56505	0.930000	0.56654	1.083000	0.30815	0.823000	0.34589	0.561000	0.74099	GCC	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000403834.1		-	ENST00000361484.3	Missense_Mutation	SNP	12 : 70003865 - 70003865 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	458	109
LTBP2	4053	broad.mit.edu	37	14	74969572	74969572	+	Missense_Mutation	SNP	G	G	A	rs142182623		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74969572G>A	ENST00000556690.1	-	33	4949	c.4822C>T	c.(4822-4824)Cgg>Tgg	p.R1608W	LTBP2_ENST00000261978.4_Missense_Mutation_p.R1652W			Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1652	TB 4.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGCCTGGCCGGAAGTGGACC	0.632		NA											G	2	9e-04	0.002	NA	2184	NA	1	,	,	NA	5e-04	0.0013	NA	NA	9e-04	1	EXOME	NA	NA	0.0011	SNP								NA				0								G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	46	52	50		4954	5	1	14	dbSNP_134	50	0,8600		0,0,4300	yes	missense	LTBP2	NM_000428.2	101	0,2,6501	AA,AG,GG	NA	0.0,0.0454,0.0154	probably-damaging	1652/1822	74969572	2,13004	2203	4300	6503	SO:0001583	missense				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681	4053	4053		Latent transforming growth factor, beta binding proteins	6715	protein-coding gene	gene with protein product		602091	chromosome 14 open reading frame 141	LTBP3, C14orf141	NA	7798248	Standard	NM_000428	NM_000428	NA	Approved		uc001xqa.3	Q14767		ENST00000556690.1:c.4822C>T	14.37:g.74969572G>A	ENSP00000451477:p.Arg1608Trp	NA	Q99907|Q9NS51	37		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	G	21.4	4.148204	0.78001	4.54E-4	0.0	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.79141	-1.24;-1.24	5.04	5.04	0.67666	.	0.000000	0.38217	N	0.001768	T	0.81039	0.4740	L	0.32530	0.975	0.38329	D	0.943745	D	0.89917	1.0	D	0.91635	0.999	T	0.83233	-0.0062	10	0.66056	D	0.02	.	11.1565	0.48491	0.0:0.0:0.7663:0.2337	.	1652	Q14767	LTBP2_HUMAN	W	1652;1608	ENSP00000261978:R1652W;ENSP00000451477:R1608W	ENSP00000261978:R1652W	R	-	1	2	LTBP2	74039325	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.443000	0.59994	2.610000	0.88304	0.561000	0.74099	CGG	LTBP2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413598.1		-	ENST00000556690.1	Missense_Mutation	SNP	14 : 74969572 - 74969572 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	461	5
LTBP2	4053	broad.mit.edu	37	14	74988701	74988701	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:74988701G>A	ENST00000556690.1	-	17	2828	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	LTBP2_ENST00000261978.4_Missense_Mutation_p.R901C			Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	901	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGATGCAGCGCCCTTTTCCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	70	73			NA	NA	14		NA											NA				74988701		2203	4300	6503	SO:0001583	missense				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681	4053	4053		Latent transforming growth factor, beta binding proteins	6715	protein-coding gene	gene with protein product		602091	chromosome 14 open reading frame 141	LTBP3, C14orf141	NA	7798248	Standard	NM_000428	NM_000428	NA	Approved		uc001xqa.3	Q14767		ENST00000556690.1:c.2701C>T	14.37:g.74988701G>A	ENSP00000451477:p.Arg901Cys	NA	Q99907|Q9NS51	37		.	.	.	.	.	.	.	.	.	.	G	19.50	3.840149	0.71488	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	T;T	0.22336	1.96;1.96	3.99	3.99	0.46301	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.184414	0.26525	N	0.023890	T	0.47710	0.1460	M	0.86864	2.845	0.50467	D	0.999877	D	0.76494	0.999	P	0.62740	0.906	T	0.55970	-0.8056	10	0.52906	T	0.07	.	13.9681	0.64221	0.0:0.0:1.0:0.0	.	901	Q14767	LTBP2_HUMAN	C	901	ENSP00000261978:R901C;ENSP00000451477:R901C	ENSP00000261978:R901C	R	-	1	0	LTBP2	74058454	0.999000	0.42202	0.944000	0.38274	0.649000	0.38597	7.347000	0.79356	2.214000	0.71695	0.462000	0.41574	CGC	LTBP2-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000413598.1		-	ENST00000556690.1	Missense_Mutation	SNP	14 : 74988701 - 74988701 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	152	14
MEFV	4210	broad.mit.edu	37	16	3299648	3299648	+	Missense_Mutation	SNP	C	C	T	rs104895198	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3299648C>T	ENST00000339854.4	-	3	542	c.503G>A	c.(502-504)cGc>cAc	p.R168H	MEFV_ENST00000541159.1_Missense_Mutation_p.R137H|MEFV_ENST00000536379.1_Missense_Mutation_p.R137H|MEFV_ENST00000219596.1_Missense_Mutation_p.R348H			O15553	MEFV_HUMAN	Mediterranean fever	348					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCCAGGTGAGCGGCTGCCTGA	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	ovary(1)						C	HIS/ARG,HIS/ARG	1,4391	2.1+/-5.4	0,1,2195	25	28	27	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1043,410	-8.2	0	16	dbSNP_132	27	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	MEFV	NM_000243.2,NM_001198536.1	29,29	0,4,6492	TT,TC,CC	NA	0.0349,0.0228,0.0308	possibly-damaging,possibly-damaging	348/782,137/446	3299648	4,12988	2196	4300	6496	SO:0001583	missense			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313	4210	4210		Tripartite motif containing / Tripartite motif containing	6998	protein-coding gene	gene with protein product	pyrin	608107		MEF	NA	9288094	Standard	NM_000243	NM_000243	NA	Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000339854.4:c.503G>A	16.37:g.3299648C>T	ENSP00000339639:p.Arg168His	NA	D3DUC0|Q3MJ84|Q96PN4|Q96PN5	37		.	.	.	.	.	.	.	.	.	.	C	5.370	0.253552	0.10185	2.28E-4	3.49E-4	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.64618	-0.11;0.32;0.22;0.33	4.11	-8.23	0.01033	.	2.533260	0.01059	N	0.004617	T	0.41971	0.1182	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.43410	-0.9393	10	0.33141	T	0.24	-27.6587	14.814	0.70017	0.0:0.7071:0.1089:0.184	.	348	O15553	MEFV_HUMAN	H	348;348;168;137;137;137	ENSP00000219596:R348H;ENSP00000339639:R168H;ENSP00000438711:R137H;ENSP00000445079:R137H	ENSP00000219596:R348H	R	-	2	0	MEFV	3239649	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.762000	0.00373	-2.922000	0.00304	-0.251000	0.11542	CGC	MEFV-010	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000398510.1		-	ENST00000339854.4	Missense_Mutation	SNP	16 : 3299648 - 3299648 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	185	41
MMRN1	22915	broad.mit.edu	37	4	90872802	90872802	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:90872802G>A	ENST00000508372.1	+	7	2675	c.2391G>A	c.(2389-2391)acG>acA	p.T797T	MMRN1_ENST00000264790.2_Silent_p.T1055T|MMRN1_ENST00000394980.1_Silent_p.T1055T|MMRN1_ENST00000394981.1_Silent_p.T358T			Q13201	MMRN1_HUMAN	multimerin 1	1055					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ATGGGGGCACGTGCATAAATG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	91	97			NA	NA	4		NA											NA				90872802		2203	4300	6503	SO:0001819	synonymous_variant			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722	22915	22915		EMI domain containing	7178	protein-coding gene	gene with protein product	glycoprotein Ia*	601456	multimerin	MMRN	NA	7629143, 10828608	Standard	NM_007351	NM_007351	NA	Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000508372.1:c.2391G>A	4.37:g.90872802G>A		NA	Q4W5L1|Q6P3T8|Q6ZUL9	37																																																																																				MMRN1-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000364071.1		+	ENST00000508372.1	Silent	SNP	4 : 90872802 - 90872802 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	293	100
MRPL34	64981	broad.mit.edu	37	19	17417119	17417119	+	Nonstop_Mutation	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17417119G>T	ENST00000602206.1	+	2	131	c.110G>T	c.(109-111)tGa>tTa	p.*37L	MRPL34_ENST00000252602.1_Silent_p.L70L|MRPL34_ENST00000600434.1_Silent_p.L70L|MRPL34_ENST00000595444.1_Silent_p.L162L|MRPL34_ENST00000594999.1_Silent_p.L70L			Q9BQ48	RM34_HUMAN	mitochondrial ribosomal protein L34	0					translation		structural constituent of ribosome			endometrium(1)|lung(1)	2						TCCGGCGCCTGAGCACGCCGG	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													9	13	12			NA	NA	19		NA											NA				17417119		2168	4231	6399	SO:0001578	stop_lost			AB049652	CCDS12356.1	19p13.1	2012-09-13					64981	64981		Mitochondrial ribosomal proteins / large subunits	14488	protein-coding gene	gene with protein product		611840			NA	11543634	Standard	NM_023937	NM_023937	NA	Approved	L34mt, MGC2633, MGC24974	uc002ngc.1	Q9BQ48		ENST00000602206.1:c.110G>T	19.37:g.17417119G>T	ENSP00000471089:p.*37Leuext*20	NA		37																																																																																				MRPL34-005	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463517.1		+	ENST00000602206.1	Nonstop_Mutation	SNP	19 : 17417119 - 17417119 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	101	24
NFKBIB	4793	broad.mit.edu	37	19	39395723	39395723	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:39395723G>A	ENST00000572515.1	+	2	329	c.248G>A	c.(247-249)gGc>gAc	p.G83D	NFKBIB_ENST00000392079.3_Missense_Mutation_p.G51D|NFKBIB_ENST00000313582.5_Missense_Mutation_p.G83D			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	83					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TTCTCGGCCGGCACTGAGTAC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(165;1492 2005 6979 7739 34483)							NA				0													164	159	161			NA	NA	19		NA											NA				39395723		2203	4300	6503	SO:0001583	missense			L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825	4793	4793		Ankyrin repeat domain containing	7798	protein-coding gene	gene with protein product		604495			NA	9763672	Standard	NM_002503	NM_002503	NA	Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000572515.1:c.248G>A	19.37:g.39395723G>A	ENSP00000459728:p.Gly83Asp	NA	A8K3F4|Q96BJ7	37		.	.	.	.	.	.	.	.	.	.	G	4.067	0.010258	0.07912	.	.	ENSG00000104825	ENST00000509705;ENST00000313582;ENST00000392079	T;T	0.60424	0.19;0.69	4.94	3.91	0.45181	Ankyrin repeat-containing domain (4);	0.122338	0.37304	N	0.002151	T	0.33147	0.0853	N	0.02111	-0.68	0.09310	N	1	B;P;B	0.40107	0.409;0.703;0.409	B;B;B	0.42771	0.397;0.276;0.275	T	0.19160	-1.0314	10	0.41790	T	0.15	-22.9371	10.3219	0.43771	0.0919:0.0:0.9081:0.0	.	106;51;83	Q59EM7;G5E9C2;Q15653	.;.;IKBB_HUMAN	D	106;83;51	ENSP00000312988:G83D;ENSP00000375929:G51D	ENSP00000312988:G83D	G	+	2	0	NFKBIB	44087563	0.982000	0.34865	0.032000	0.17829	0.013000	0.08279	3.526000	0.53509	1.292000	0.44672	0.655000	0.94253	GGC	NFKBIB-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000438152.1		+	ENST00000572515.1	Missense_Mutation	SNP	19 : 39395723 - 39395723 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	913	6
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													83	76	79			NA	NA	22		NA											NA				42071074		2203	4300	6503	SO:0001583	missense				CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138	4809	4809			7819	protein-coding gene	gene with protein product	small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)	601304	non-histone chromosome protein 2 (S. cerevisiae)-like 1, sperm specific antigen 1	SSFA1	NA	8978773	Standard	NM_001003796	NM_005008	NA	Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.250C>T	22.37:g.42071074G>A	ENSP00000383949:p.Arg84Cys	NA		37	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089824	0.55968	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.34	4.33	0.51752	Ribosomal protein L7Ae conserved site (1);Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.046546	0.85682	D	0.000000	T	0.49575	0.1565	L	0.58428	1.81	0.80722	D	1	B	0.25667	0.131	B	0.17722	0.019	T	0.53443	-0.8438	10	0.87932	D	0	.	14.2921	0.66286	0.072:0.0:0.928:0.0	.	84	P55769	NH2L1_HUMAN	C	84;84;84;88	ENSP00000347401:R84C;ENSP00000215956:R84C;ENSP00000383949:R84C;ENSP00000383989:R88C	ENSP00000215956:R84C	R	-	1	0	NHP2L1	40401020	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	7.467000	0.80930	1.400000	0.46741	-0.229000	0.12294	CGC	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321682.1		-	ENST00000401959.1	Missense_Mutation	SNP	22 : 42071074 - 42071074 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	567	6
NLRP8	126205	broad.mit.edu	37	19	56466799	56466799	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:56466799G>A	ENST00000291971.3	+	3	1446	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	NLRP8_ENST00000590542.1_Missense_Mutation_p.A459T	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	459	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACTTGGCCGCAGACAGCAT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													108	101	104			NA	NA	19		NA											NA				56466799		2203	4300	6503	SO:0001583	missense			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709	126205	126205		Nucleotide-binding domain and leucine rich repeat containing	22940	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8	609659	NACHT, leucine rich repeat and PYD containing 8	NALP8	NA	12563287	Standard	NM_176811	NM_176811	NA	Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1375G>A	19.37:g.56466799G>A	ENSP00000291971:p.Ala459Thr	NA	Q7RTR4	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.979924	0.34942	.	.	ENSG00000179709	ENST00000291971	D	0.83837	-1.77	2.04	0.947	0.19555	.	.	.	.	.	D	0.87438	0.6177	M	0.74647	2.275	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.65010	0.928;0.931	T	0.75419	-0.3324	9	0.72032	D	0.01	.	5.6935	0.17843	0.0:0.0:0.6797:0.3203	.	459;459	Q86W28-2;Q86W28	.;NALP8_HUMAN	T	459	ENSP00000291971:A459T	ENSP00000291971:A459T	A	+	1	0	NLRP8	61158611	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	2.681000	0.46926	0.401000	0.25424	-0.426000	0.05927	GCA	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000457462.1		+	ENST00000291971.3	Missense_Mutation	SNP	19 : 56466799 - 56466799 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	555	7
NR2F1	7025	broad.mit.edu	37	5	92921011	92921011	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr5:92921011C>T	ENST00000327111.3	+	1	1969	c.282C>T	c.(280-282)agC>agT	p.S94S	NR2F1-AS1_ENST00000513055.1_RNA	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	94					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		ACAAGTCGAGCGGCAAGCACT	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	27	28			NA	NA	5		NA											NA				92921011		2203	4300	6503	SO:0001819	synonymous_variant			BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745	7025	7025		Nuclear hormone receptors	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1	NA	8530078	Standard	NM_005654	NM_005654	NA	Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.282C>T	5.37:g.92921011C>T		NA		37	CCDS4068.1																																																																																			NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239293.2		+	ENST00000327111.3	Silent	SNP	5 : 92921011 - 92921011 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	51	4
NYNRIN	57523	broad.mit.edu	37	14	24877207	24877207	+	Missense_Mutation	SNP	G	G	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:24877207G>T	ENST00000382554.3	+	3	649	c.331G>T	c.(331-333)Gtg>Ttg	p.V111L		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	111					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCTACCTGGTGCCTGGCCC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	72	70			NA	NA	14		NA											NA				24877207		2093	4213	6306	SO:0001583	missense			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978	57523	57523			20165	protein-coding gene	gene with protein product	Cousin of GIN1		KIAA1305	KIAA1305	NA	19561090, 17114934	Standard		NM_025081	NA	Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.331G>T	14.37:g.24877207G>T	ENSP00000371994:p.Val111Leu	NA	Q6P153|Q86TR3|Q9HAC4	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375905	0.61735	.	.	ENSG00000205978	ENST00000382554	T	0.12255	2.7	4.82	4.82	0.62117	.	0.830019	0.09626	N	0.776903	T	0.18130	0.0435	M	0.65975	2.015	0.24216	N	0.995458	B	0.21520	0.057	B	0.17979	0.02	T	0.08638	-1.0712	10	0.87932	D	0	.	8.9155	0.35579	0.0986:0.0:0.9014:0.0	.	111	Q9P2P1	NYNRI_HUMAN	L	111	ENSP00000371994:V111L	ENSP00000371994:V111L	V	+	1	0	NYNRIN	23947047	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.690000	0.54713	2.503000	0.84419	0.655000	0.94253	GTG	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412939.1		+	ENST00000382554.3	Missense_Mutation	SNP	14 : 24877207 - 24877207 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	547	151
PAQR4	124222	broad.mit.edu	37	16	3021758	3021758	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:3021758G>A	ENST00000572687.1	+	2	526	c.409G>A	c.(409-411)Gca>Aca	p.A137T	PAQR4_ENST00000293978.8_Missense_Mutation_p.A172T|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000318782.8_Missense_Mutation_p.A211T|PAQR4_ENST00000576565.1_Missense_Mutation_p.A144T|PAQR4_ENST00000574988.1_Missense_Mutation_p.A144T	NM_001284512.1	NP_001271441.1	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	211						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GCGCATGGACGCACTGGCGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	50	48			NA	NA	16		NA											NA				3021758		2197	4300	6497	SO:0001583	missense				CCDS10485.1, CCDS66911.1, CCDS66912.1, CCDS73814.1	16p13	2008-05-02			ENSG00000162073	ENSG00000162073	124222	124222			26386	protein-coding gene	gene with protein product		614578			NA	12477932	Standard	NM_152341	XM_005255112	NA	Approved	FLJ30002	uc002csj.4	Q8N4S7	OTTHUMG00000128977	ENST00000572687.1:c.409G>A	16.37:g.3021758G>A	ENSP00000459418:p.Ala137Thr	NA	A8K5Q8|D3DUA2|D3DUA3|Q8NAS6|Q96NW1	37		.	.	.	.	.	.	.	.	.	.	g	11.42	1.633267	0.29068	.	.	ENSG00000162073	ENST00000318782;ENST00000293978	T;T	0.30714	1.52;1.53	4.81	4.81	0.61882	.	0.062180	0.64402	D	0.000007	T	0.38639	0.1048	M	0.64080	1.96	0.37162	D	0.902642	D;P;P	0.56521	0.976;0.78;0.919	P;B;B	0.48840	0.592;0.187;0.37	T	0.41088	-0.9528	10	0.23302	T	0.38	-10.4425	15.3988	0.74818	0.0:0.0:1.0:0.0	.	136;172;211	Q8N4S7-3;Q8N4S7-2;Q8N4S7	.;.;PAQR4_HUMAN	T	211;137	ENSP00000321804:A211T;ENSP00000293978:A137T	ENSP00000293978:A137T	A	+	1	0	PAQR4	2961759	0.995000	0.38212	0.120000	0.21714	0.698000	0.40448	3.970000	0.56824	2.220000	0.72140	0.457000	0.33378	GCA	PAQR4-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000436739.1		+	ENST00000572687.1	Missense_Mutation	SNP	16 : 3021758 - 3021758 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	368	5
PCK1	5105	broad.mit.edu	37	20	56138146	56138146	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr20:56138146C>T	ENST00000319441.4	+	5	837	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	PCK1_ENST00000535860.1_Missense_Mutation_p.R93C|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	225					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCTGCCTGACCGCAGAGAGAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	74	73			NA	NA	20		NA											NA				56138146		2203	4300	6503	SO:0001583	missense				CCDS13460.1	20q13.31	2007-11-06			ENSG00000124253	ENSG00000124253	5105	5105	4.1.1.32		8724	protein-coding gene	gene with protein product		614168			NA	1492743	Standard		NM_002591	NA	Approved	PEPCK-C	uc002xyn.4	P35558	OTTHUMG00000032825	ENST00000319441.4:c.673C>T	20.37:g.56138146C>T	ENSP00000319814:p.Arg225Cys	NA	A8K437|Q8TCA3|Q9UJD2	37	CCDS13460.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369151	0.95900	.	.	ENSG00000124253	ENST00000319441;ENST00000535860	T;T	0.04406	3.63;3.63	5.06	5.06	0.68205	Phosphoenolpyruvate carboxykinase, N-terminal (2);	0.152325	0.56097	D	0.000028	T	0.12603	0.0306	L	0.43152	1.355	0.80722	D	1	D	0.54772	0.968	P	0.54856	0.762	T	0.00697	-1.1605	10	0.66056	D	0.02	-30.42	18.803	0.92025	0.0:1.0:0.0:0.0	.	225	P35558	PCKGC_HUMAN	C	225;93	ENSP00000319814:R225C;ENSP00000444342:R93C	ENSP00000319814:R225C	R	+	1	0	PCK1	55571552	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.333000	0.79214	2.520000	0.84964	0.655000	0.94253	CGC	PCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079851.2		+	ENST00000319441.4	Missense_Mutation	SNP	20 : 56138146 - 56138146 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	450	6
PDZRN3	23024	broad.mit.edu	37	3	73440202	73440202	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:73440202G>A	ENST00000479530.1	-	4	667	c.471C>T	c.(469-471)gaC>gaT	p.D157D	PDZRN3_ENST00000466780.1_Silent_p.D97D|PDZRN3_ENST00000535920.1_Silent_p.D162D|PDZRN3_ENST00000462146.2_Silent_p.D97D|PDZRN3_ENST00000263666.4_Silent_p.D440D|PDZRN3_ENST00000466348.1_5'UTR			Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	440							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CGTCTTCATCGTCCGTCCGGT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													274	254	261			NA	NA	3		NA											NA				73440202		2203	4300	6503	SO:0001819	synonymous_variant			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440	23024	23024		RING-type (C3HC4) zinc fingers	17704	protein-coding gene	gene with protein product	likely ortholog of mouse semaF cytoplasmic domain associated protein 3	609729			NA	10470851	Standard	XM_041363	XM_005264718	NA	Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000479530.1:c.471C>T	3.37:g.73440202G>A		NA	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	37		.	.	.	.	.	.	.	.	.	.	G	8.064	0.768692	0.15983	.	.	ENSG00000121440	ENST00000494559	.	.	.	5.18	-9.21	0.00678	.	.	.	.	.	T	0.66327	0.2778	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74100	-0.3774	4	.	.	.	.	20.3542	0.98835	0.8963:0.0:0.1037:0.0	.	.	.	.	M	37	.	.	T	-	2	0	PDZRN3	73522892	0.432000	0.25554	0.086000	0.20670	0.897000	0.52465	-0.105000	0.10907	-1.917000	0.01074	-0.880000	0.02959	ACG	PDZRN3-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000352465.1		-	ENST00000479530.1	Silent	SNP	3 : 73440202 - 73440202 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	835	27
PHF17	0	broad.mit.edu	37	4	129783124	129783124	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:129783124G>A	ENST00000226319.6	+	9	1527	c.1247G>A	c.(1246-1248)cGt>cAt	p.R416H	PHF17_ENST00000452328.2_Missense_Mutation_p.R404H|PHF17_ENST00000413543.2_Missense_Mutation_p.R416H|PHF17_ENST00000511647.1_Missense_Mutation_p.R416H|PHF17_ENST00000512960.1_Missense_Mutation_p.R416H	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		416					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GTGAGTGTCCGTAAGCAGAAG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													106	100	102			NA	NA	4		NA											NA				129783124		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000226319.6:c.1247G>A	4.37:g.129783124G>A	ENSP00000226319:p.Arg416His	NA	D3DNY0|D3DNY1|Q4W5D5|Q6ZSL7|Q8NC41|Q96JL8|Q96SQ1|Q9H692	37	CCDS34062.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224990	0.58668	.	.	ENSG00000077684	ENST00000226319;ENST00000511647;ENST00000452328;ENST00000512960;ENST00000535321;ENST00000413543	T;T;T;T;T	0.49139	0.88;0.79;0.88;0.88;0.79	5.01	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.69628	0.3132	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.73830	-0.3859	9	.	.	.	.	13.6817	0.62489	0.0745:0.0:0.9255:0.0	.	404;416;416	Q6IE81-2;Q6IE81;Q6IE81-3	.;JADE1_HUMAN;.	H	416;416;404;416;416;416	ENSP00000226319:R416H;ENSP00000423737:R416H;ENSP00000388015:R404H;ENSP00000425730:R416H;ENSP00000404211:R416H	.	R	+	2	0	PHF17	130002574	1.000000	0.71417	0.821000	0.32701	0.166000	0.22503	8.901000	0.92560	1.346000	0.45694	-0.150000	0.13652	CGT	PHF17-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364280.1		+	ENST00000226319.6	Missense_Mutation	SNP	4 : 129783124 - 129783124 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	498	6
PLCD1	5333	broad.mit.edu	37	3	38049624	38049624	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:38049624G>A	ENST00000463876.1	-	14	2482	c.2129C>T	c.(2128-2130)gCg>gTg	p.A710V	PLCD1_ENST00000334661.4_Missense_Mutation_p.A689V	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	689	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TACCTCAAACGCAAACTCCGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	115	117			NA	NA	3		NA											NA				38049624		2203	4300	6503	SO:0001583	missense				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	5333	5333	3.1.4.11	EF-hand domain containing	9060	protein-coding gene	gene with protein product		602142			NA	9345909	Standard		NM_001130964	NA	Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000463876.1:c.2129C>T	3.37:g.38049624G>A	ENSP00000430344:p.Ala710Val	NA	Q86VN8	37	CCDS46793.1	.	.	.	.	.	.	.	.	.	.	G	8.511	0.866463	0.17250	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68181	-0.31;-0.31	5.15	4.0	0.46444	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.475525	0.25677	N	0.029024	T	0.31702	0.0805	N	0.00525	-1.395	0.22648	N	0.998895	B;B	0.12013	0.005;0.003	B;B	0.08055	0.001;0.003	T	0.21143	-1.0254	10	0.23302	T	0.38	.	11.6796	0.51451	0.0:0.0:0.2929:0.7071	.	689;710	P51178;B3KR14	PLCD1_HUMAN;.	V	710;689	ENSP00000430344:A710V;ENSP00000335600:A689V	ENSP00000335600:A689V	A	-	2	0	PLCD1	38024628	0.000000	0.05858	0.989000	0.46669	0.071000	0.16799	0.102000	0.15272	0.932000	0.37266	-0.397000	0.06425	GCG	PLCD1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342510.2		-	ENST00000463876.1	Missense_Mutation	SNP	3 : 38049624 - 38049624 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	434	5
PLXNB2	23654	broad.mit.edu	37	22	50716129	50716129	+	Missense_Mutation	SNP	G	G	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:50716129G>C	ENST00000449103.1	-	33	5227	c.5087C>G	c.(5086-5088)cCc>cGc	p.P1696R	PLXNB2_ENST00000359337.4_Missense_Mutation_p.P1696R			O15031	PLXB2_HUMAN	plexin B2	1696					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GATGAAGTGGGGGTTCTTGAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													66	74	72			NA	NA	22		NA											NA				50716129		2134	4260	6394	SO:0001583	missense				CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576	23654	23654		Plexins	9104	protein-coding gene	gene with protein product		604293			NA	10520995, 12183458	Standard	NM_012401	NM_012401	NA	Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.5087C>G	22.37:g.50716129G>C	ENSP00000409171:p.Pro1696Arg	NA	A6QRH0|Q7KZU3|Q9BSU7	37	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515467	0.85389	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.70045	-0.45;-0.45	4.21	4.21	0.49690	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);Ras GTPase-activating protein (1);	0.084908	0.50627	D	0.000119	D	0.85265	0.5657	M	0.92026	3.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89427	0.3714	10	0.87932	D	0	.	16.7466	0.85474	0.0:0.0:1.0:0.0	.	1696	O15031	PLXB2_HUMAN	R	1696;1696;326	ENSP00000409171:P1696R;ENSP00000352288:P1696R	ENSP00000352288:P1696R	P	-	2	0	PLXNB2	49058256	1.000000	0.71417	0.948000	0.38648	0.954000	0.61252	9.181000	0.94874	2.170000	0.68504	0.491000	0.48974	CCC	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000316874.3		-	ENST00000449103.1	Missense_Mutation	SNP	22 : 50716129 - 50716129 C PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	432	88
PPP1R1C	151242	broad.mit.edu	37	2	182850872	182850872	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:182850872C>T	ENST00000280295.3	+	1	269	c.35C>T	c.(34-36)gCc>gTc	p.A12V	PPP1R1C_ENST00000475249.1_Intron|PPP1R1C_ENST00000409702.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000452904.1_Missense_Mutation_p.A12V|PPP1R1C_ENST00000409137.3_Missense_Mutation_p.A12V			Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	12					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			ATACAGTTTGCCGTGCCTGTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	144	146			NA	NA	2		NA											NA				182850872		2010	4183	6193	SO:0001583	missense			AF494535, BC017943	CCDS46468.1, CCDS58740.1	2q31.3	2012-04-17			ENSG00000150722	ENSG00000150722	151242	151242		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	14940	protein-coding gene	gene with protein product		613240			NA	11948623	Standard	NM_001080545	NM_001261424	NA	Approved	Inhibitor-1-like	uc010frm.2	Q8WVI7	OTTHUMG00000154326	ENST00000280295.3:c.35C>T	2.37:g.182850872C>T	ENSP00000280295:p.Ala12Val	NA	Q5HYJ5|Q8TD54	37	CCDS58740.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.558951	0.86231	.	.	ENSG00000150722	ENST00000452904;ENST00000409137;ENST00000280295;ENST00000409702	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	5.87	5.87	0.94306	.	0.053176	0.85682	D	0.000000	T	0.49304	0.1549	M	0.69823	2.125	0.58432	D	0.99999	P;P	0.48503	0.911;0.834	P;P	0.50896	0.642;0.653	T	0.46857	-0.9161	10	0.72032	D	0.01	-13.2258	20.5827	0.99408	0.0:1.0:0.0:0.0	.	12;12	Q8WVI7-2;Q8WVI7	.;PPR1C_HUMAN	V	12	ENSP00000399602:A12V;ENSP00000386359:A12V;ENSP00000280295:A12V;ENSP00000386778:A12V	ENSP00000280295:A12V	A	+	2	0	PPP1R1C	182559117	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.971000	0.70440	2.941000	0.99782	0.655000	0.94253	GCC	PPP1R1C-004	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334875.1		+	ENST00000280295.3	Missense_Mutation	SNP	2 : 182850872 - 182850872 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	466	6
PPP2R2C	5522	broad.mit.edu	37	4	6380234	6380234	+	Silent	SNP	C	C	T	rs147944662	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:6380234C>T	ENST00000335585.5	-	3	257	c.234G>A	c.(232-234)ccG>ccA	p.P78P	PPP2R2C_ENST00000507294.1_Silent_p.P71P|PPP2R2C_ENST00000382599.4_Silent_p.P78P|PPP2R2C_ENST00000506140.1_Silent_p.P71P|PPP2R2C_ENST00000515571.1_Silent_p.P61P|PPP2R2C_ENST00000314348.8_Intron	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	78					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGTCAAACTCCGGCTCGTGGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	3,4403	6.2+/-15.9	0,3,2200	145	136	139		213,213,183,234	-9.3	0	4	dbSNP_134	139	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R2C	NM_001206994.1,NM_001206995.1,NM_001206996.1,NM_181876.2	,,,	0,4,6499	TT,TC,CC	NA	0.0116,0.0681,0.0308	,,,	71/441,71/441,61/431,78/448	6380234	4,13002	2203	4300	6503	SO:0001819	synonymous_variant			AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	5522	5522	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, WD repeat domain containing	9306	protein-coding gene	gene with protein product	PP2A subunit B isoform gamma	605997	protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform		NA	10574460, 10945473	Standard	NM_181876	NM_020416	NA	Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000335585.5:c.234G>A	4.37:g.6380234C>T		NA	A8MSY7|Q7Z4V7|Q8NEC4|Q9H3G7	37	CCDS3388.1																																																																																			PPP2R2C-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206890.2		-	ENST00000335585.5	Silent	SNP	4 : 6380234 - 6380234 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	600	12
PRDM11	56981	broad.mit.edu	37	11	45246062	45246062	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr11:45246062C>A	ENST00000424263.2	+	7	1282	c.1037C>A	c.(1036-1038)gCa>gAa	p.A346E	PRDM11_ENST00000530656.1_Missense_Mutation_p.A380E|PRDM11_ENST00000263765.4_Missense_Mutation_p.A380E|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA	NM_001256695.1|NM_001256696.1	NP_001243624.1|NP_001243625.1	Q9NQV5	PRD11_HUMAN	PR domain containing 11	380										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGTCAGTGTGCAACAACAATG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(118;1511 1736 6472 36603 43224)							NA				0													104	110	108			NA	NA	11		NA											NA				45246062		2203	4299	6502	SO:0001583	missense			AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485	56981	56981			13996	protein-coding gene	gene with protein product	PR-domain containing protein 11				NA		Standard	NM_020229	NM_001256695	NA	Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000424263.2:c.1037C>A	11.37:g.45246062C>A	ENSP00000394314:p.Ala346Glu	NA	Q8N9F1	37	CCDS58130.1	.	.	.	.	.	.	.	.	.	.	C	3.853	-0.031534	0.07543	.	.	ENSG00000019485	ENST00000263765;ENST00000530656;ENST00000424263	T;T;T	0.23950	1.88;1.88;1.9	5.41	2.37	0.29283	.	0.371038	0.22974	N	0.053384	T	0.12220	0.0297	N	0.14661	0.345	0.09310	N	1	P	0.41848	0.763	B	0.39840	0.311	T	0.10965	-1.0607	10	0.25751	T	0.34	-4.2871	4.8943	0.13742	0.1119:0.3303:0.4654:0.0924	.	380	Q9NQV5	PRD11_HUMAN	E	380;380;346	ENSP00000263765:A380E;ENSP00000435976:A380E;ENSP00000394314:A346E	ENSP00000263765:A380E	A	+	2	0	PRDM11	45202638	0.994000	0.37717	0.003000	0.11579	0.009000	0.06853	3.098000	0.50259	0.656000	0.30886	-0.259000	0.10710	GCA	PRDM11-002	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389930.1		+	ENST00000424263.2	Missense_Mutation	SNP	11 : 45246062 - 45246062 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	657	6
PRX	57716	broad.mit.edu	37	19	40902713	40902713	+	Missense_Mutation	SNP	G	G	A	rs144305922		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:40902713G>A	ENST00000324001.7	-	7	1816	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	516	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGAAGCCGCACCTCCGGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,TRP/ARG	0,4384		0,0,2192	76	89	85		,1546	2.5	0	19	dbSNP_134	85	1,8585		0,1,4292	no	utr-3,missense	PRX	NM_020956.2,NM_181882.2	,101	0,1,6484	AA,AG,GG	NA	0.0116,0.0,0.0077	,probably-damaging	,516/1462	40902713	1,12969	2192	4293	6485	SO:0001583	missense			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227	57716	57716			13797	protein-coding gene	gene with protein product		605725			NA	10839370, 9143514	Standard	NM_020956	NM_181882	NA	Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1546C>T	19.37:g.40902713G>A	ENSP00000326018:p.Arg516Trp	NA	Q9BXL9|Q9HCF2	37	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.224920	0.58668	0.0	1.16E-4	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02015	4.5	3.58	2.5	0.30297	.	1.860880	0.03022	N	0.150861	T	0.03871	0.0109	L	0.44542	1.39	0.36058	D	0.841268	D	0.63880	0.993	P	0.44561	0.453	T	0.39781	-0.9597	10	0.72032	D	0.01	.	6.0789	0.19931	0.0:0.212:0.5698:0.2181	.	516	Q9BXM0	PRAX_HUMAN	W	516	ENSP00000326018:R516W	ENSP00000326018:R516W	R	-	1	2	PRX	45594553	0.000000	0.05858	0.032000	0.17829	0.291000	0.27294	0.126000	0.15769	0.677000	0.31305	0.313000	0.20887	CGG	PRX-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462582.1		-	ENST00000324001.7	Missense_Mutation	SNP	19 : 40902713 - 40902713 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	1083	8
RAD21	5885	broad.mit.edu	37	8	117869572	117869572	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:117869572G>A	ENST00000297338.2	-	6	909	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	208					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TATTCTAAATGGTTAATTTTC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													147	150	149			NA	NA	8		NA											NA				117869572		2203	4300	6503	SO:0001583	missense			BC050381	CCDS6321.1	8q24.11	2014-09-17	2001-11-28		ENSG00000164754	ENSG00000164754	5885	5885			9811	protein-coding gene	gene with protein product	sister chromatid cohesion 1	606462	RAD21 (S. pombe) homolog		NA	8812457	Standard	NM_006265	NM_006265	NA	Approved	KIAA0078, hHR21, SCC1	uc003yod.3	O60216	OTTHUMG00000164959	ENST00000297338.2:c.622C>T	8.37:g.117869572G>A	ENSP00000297338:p.His208Tyr	NA	A8K0E0|Q15001|Q99568	37	CCDS6321.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458476	0.63401	.	.	ENSG00000164754	ENST00000297338;ENST00000520992;ENST00000517485	T;T;T	0.53857	0.6;1.51;1.51	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	M	0.62723	1.935	0.80722	D	1	D	0.54207	0.965	P	0.47827	0.558	T	0.63225	-0.6685	10	0.52906	T	0.07	-17.6597	19.717	0.96124	0.0:0.0:1.0:0.0	.	208	O60216	RAD21_HUMAN	Y	208	ENSP00000297338:H208Y;ENSP00000429342:H208Y;ENSP00000427923:H208Y	ENSP00000297338:H208Y	H	-	1	0	RAD21	117938753	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.161000	0.94739	2.734000	0.93682	0.563000	0.77884	CAT	RAD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381184.1		-	ENST00000297338.2	Missense_Mutation	SNP	8 : 117869572 - 117869572 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	267	65
RBFOX2	23543	broad.mit.edu	37	22	36205927	36205927	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:36205927G>A	ENST00000405409.2	-	2	520	c.152C>T	c.(151-153)gCc>gTc	p.A51V	RBFOX2_ENST00000449924.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000262829.7_Missense_Mutation_p.A51V|RBFOX2_ENST00000416721.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000359369.4_Missense_Mutation_p.A31V|RBFOX2_ENST00000397303.2_Missense_Mutation_p.A31V|RBFOX2_ENST00000414461.2_Missense_Mutation_p.A51V|RBFOX2_ENST00000438146.2_Missense_Mutation_p.A121V	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	61					estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						GGTCTGGCCGGCATAGTCTTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													248	211	224			NA	NA	22		NA											NA				36205927		2203	4300	6503	SO:0001583	missense			AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320	23543	23543		RNA binding motif (RRM) containing	9906	protein-coding gene	gene with protein product	hexaribonucleotide binding protein 2	612149	RNA binding motif protein 9	RBM9	NA		Standard		NM_014309	NA	Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000405409.2:c.152C>T	22.37:g.36205927G>A	ENSP00000384944:p.Ala51Val	NA	A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	37	CCDS13921.1	.	.	.	.	.	.	.	.	.	.	G	36	5.778134	0.96929	.	.	ENSG00000100320	ENST00000405409;ENST00000338644;ENST00000414461;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146;ENST00000408983;ENST00000397305	T;T;T;T;T;T;T;T	0.52754	1.44;1.26;0.69;0.99;1.38;0.95;0.65;1.66	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66499	0.2795	L	0.54323	1.7	0.54753	D	0.999982	D;D;D;D;P;D;D;P;P;D	0.67145	0.996;0.974;0.975;0.975;0.939;0.996;0.995;0.913;0.925;0.974	P;P;P;P;B;D;P;P;P;P	0.70935	0.874;0.72;0.647;0.647;0.376;0.971;0.885;0.614;0.644;0.595	T	0.67070	-0.5763	10	0.87932	D	0	.	20.0065	0.97435	0.0:0.0:1.0:0.0	.	31;61;121;121;51;51;51;51;51;31	B0QYY4;O43251;O43251-6;O43251-8;O43251-3;O43251-5;O43251-9;O43251-10;O43251-4;B0QYV1	.;RFOX2_HUMAN;.;.;.;.;.;.;.;.	V	51;61;51;51;51;31;31;51;121;73;31	ENSP00000384944:A51V;ENSP00000407855:A51V;ENSP00000391670:A51V;ENSP00000380470:A31V;ENSP00000352328:A31V;ENSP00000405651:A51V;ENSP00000413035:A121V;ENSP00000386177:A73V	ENSP00000262829:A51V	A	-	2	0	RBFOX2	34535873	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.346000	0.90060	2.713000	0.92767	0.655000	0.94253	GCC	RBFOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318976.3		-	ENST00000405409.2	Missense_Mutation	SNP	22 : 36205927 - 36205927 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	1049	7
RBMS1	5937	broad.mit.edu	37	2	161159916	161159916	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:161159916T>C	ENST00000348849.3	-	5	915	c.485A>G	c.(484-486)aAa>aGa	p.K162R	RBMS1_ENST00000409972.1_Missense_Mutation_p.K129R|RBMS1_ENST00000409289.2_Missense_Mutation_p.K129R|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.K162R|RBMS1_ENST00000409075.1_Missense_Mutation_p.K129R	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	162	RRM 2.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)		NA						TCCAAATGGTTTGAGCATATT	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	136	142			NA	NA	2		NA											NA				161159916		2203	4300	6503	SO:0001583	missense			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250	5937	5937		RNA binding motif (RRM) containing	9907	protein-coding gene	gene with protein product	suppressor of cdc 2 (cdc13) with RNA binding motif 2, c-myc gene single strand binding protein 2	602310	chromosome 2 open reading frame 12	C2orf12	NA	8041632, 8134115, 7838710	Standard	NM_016836	NM_016836	NA	Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.485A>G	2.37:g.161159916T>C	ENSP00000294904:p.Lys162Arg	NA	Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	37	CCDS2213.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.291114	0.80914	.	.	ENSG00000153250	ENST00000348849;ENST00000409075;ENST00000409289;ENST00000392753;ENST00000409972	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.7	5.7	0.88788	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.29321	0.0730	N	0.25144	0.715	0.80722	D	1	B;B;B;P;B;B;B	0.51449	0.004;0.118;0.009;0.945;0.128;0.002;0.008	B;B;B;D;B;B;B	0.71870	0.02;0.275;0.07;0.975;0.179;0.044;0.131	T	0.04360	-1.0957	10	0.54805	T	0.06	.	15.9541	0.79871	0.0:0.0:0.0:1.0	.	129;28;162;162;28;129;162	D3DPB2;Q5CZ65;P29558;P29558-2;Q5CZ66;E7ETU5;B4DN88	.;.;RBMS1_HUMAN;.;.;.;.	R	162;129;129;162;129	ENSP00000294904:K162R;ENSP00000386347:K129R;ENSP00000386571:K129R;ENSP00000376508:K162R;ENSP00000387280:K129R	ENSP00000294904:K162R	K	-	2	0	RBMS1	160868162	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.163000	0.67991	0.533000	0.62120	AAA	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000255043.4		-	ENST00000348849.3	Missense_Mutation	SNP	2 : 161159916 - 161159916 C PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	372	52
RET	5979	broad.mit.edu	37	10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557		1	T, Mis, N, F	H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6	medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC	medullary thyroid,  papillary thyroid, pheochromocytoma	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	E, O	0													252	239	243			NA	NA	10		NA											NA				43622039		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731	5979	5979		Cadherins / Cadherin-related	9967	protein-coding gene	gene with protein product	cadherin-related family member 16	164761	multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease 1	HSCR1, MEN2A, MTC1, MEN2B	NA	2687772, 1611909	Standard	NM_020975	NM_020975	NA	Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.3056C>T	10.37:g.43622039C>T	ENSP00000347942:p.Ala1019Val	NA	A8K6Z2|Q15250|Q9BTB0|Q9H4A2	37	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.010130	0.75046	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	T;T	0.80304	-1.24;-1.36	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85682	0.1301	10	0.52906	T	0.07	.	18.5126	0.90923	0.0:1.0:0.0:0.0	.	765;1019;1019	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	V	1019	ENSP00000347942:A1019V;ENSP00000344798:A1019V	ENSP00000344798:A1019V	A	+	2	0	RET	42942045	1.000000	0.71417	0.735000	0.30896	0.550000	0.35303	7.786000	0.85741	2.374000	0.81015	0.655000	0.94253	GCG	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047694.2		+	ENST00000355710.3	Missense_Mutation	SNP	10 : 43622039 - 43622039 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	1196	7
RFTN1	23180	broad.mit.edu	37	3	16475456	16475456	+	Silent	SNP	C	C	T	rs144679139		TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:16475456C>T	ENST00000334133.4	-	3	506	c.234G>A	c.(232-234)tcG>tcA	p.S78S	RFTN1_ENST00000432519.1_Silent_p.S42S	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	78						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						GGGCCGCCAGCGAGAAGCCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	56	54			NA	NA	3		NA											NA				16475456		2203	4300	6503	SO:0001819	synonymous_variant			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378	23180	23180			30278	protein-coding gene	gene with protein product	raft-linking protein				NA	7788527, 12805216	Standard	NM_015150	NM_015150	NA	Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.234G>A	3.37:g.16475456C>T		NA	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	37	CCDS33712.1																																																																																			RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346908.1		-	ENST00000334133.4	Silent	SNP	3 : 16475456 - 16475456 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	501	13
RGS12	6002	broad.mit.edu	37	4	3318330	3318330	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr4:3318330G>A	ENST00000382788.3	+	1	536	c.433G>A	c.(433-435)Gga>Aga	p.G145R	RGS12_ENST00000543385.1_Missense_Mutation_p.G145R|RGS12_ENST00000344733.5_Missense_Mutation_p.G145R|RGS12_ENST00000336727.3_Missense_Mutation_p.G145R			O14924	RGS12_HUMAN	regulator of G-protein signaling 12	145						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGTCTGGTGGAATTTTCAA	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	65	63			NA	NA	4		NA											NA				3318330		2203	4299	6502	SO:0001583	missense			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788	6002	6002		Regulators of G-protein signaling	9994	protein-coding gene	gene with protein product		602512	regulator of G-protein signalling 12		NA	9651375	Standard	NM_002926	NM_198229	NA	Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000382788.3:c.433G>A	4.37:g.3318330G>A	ENSP00000372238:p.Gly145Arg	NA	B1AQ30|B1AQ31|B1AQ32|O14922|O14923|O43510|O75338	37	CCDS3367.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196311	0.78902	.	.	ENSG00000159788	ENST00000543385;ENST00000344733;ENST00000336727;ENST00000382788	T;T;T;T	0.37058	1.22;1.27;1.28;1.28	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.61924	0.2386	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.994;0.987;0.995	T	0.67960	-0.5535	10	0.72032	D	0.01	-22.7391	16.6763	0.85280	0.0:0.0:1.0:0.0	.	145;145;145	Q8WX97;O14924;O14924-4	.;RGS12_HUMAN;.	R	145	ENSP00000440566:G145R;ENSP00000339381:G145R;ENSP00000338509:G145R;ENSP00000372238:G145R	ENSP00000338509:G145R	G	+	1	0	RGS12	3288128	1.000000	0.71417	0.077000	0.20336	0.902000	0.53008	7.324000	0.79115	2.176000	0.68965	0.491000	0.48974	GGA	RGS12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206603.1		+	ENST00000382788.3	Missense_Mutation	SNP	4 : 3318330 - 3318330 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	430	112
RYBP	23429	broad.mit.edu	37	3	72428210	72428210	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:72428210C>A	ENST00000477973.2	-	3	679	c.680G>T	c.(679-681)cGa>cTa	p.R227L		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	NA					apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		TGATTTGTTTCGCTGGTCTTT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	167	173			NA	NA	3		NA											NA				72428210		1918	4139	6057	SO:0001583	missense			AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602	23429	23429			10480	protein-coding gene	gene with protein product	YY1 and E4TF1 associated factor 1, ring1 interactor RYBP, apoptin-associating protein 1, death effector domain-associated factor	607535			NA	10369680	Standard	NM_012234	NM_012234	NA	Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.680G>T	3.37:g.72428210C>A	ENSP00000419494:p.Arg227Leu	NA	Q9P2W5|Q9UMW4	37		.	.	.	.	.	.	.	.	.	.	C	21.7	4.191335	0.78902	.	.	ENSG00000163602	ENST00000477973	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	T	0.65749	0.2721	.	.	.	.	.	.	.	.	.	.	.	.	T	0.68044	-0.5513	3	.	.	.	-29.6366	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	.	.	.	L	227	.	.	R	-	2	0	RYBP	72510900	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.592000	0.67543	2.941000	0.99782	0.655000	0.94253	CGA	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000353762.3		-	ENST00000477973.2	Missense_Mutation	SNP	3 : 72428210 - 72428210 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	242	69
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chrX:17770059C>T	ENST00000380043.3	+	6	1075	c.747C>T	c.(745-747)tgC>tgT	p.C249C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													377	317	337			NA	NA	X		NA											NA				17770059		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634	6322	6322		Sterile alpha motif (SAM) domain containing	10580	protein-coding gene	gene with protein product		300227	sex comb on midleg (Drosophila)-like 1		NA	9570953	Standard	NM_006746	XM_005274578	NA	Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380043.3:c.747C>T	X.37:g.17770059C>T		NA	B0FZN6|B2RA08|Q5H968|Q5H969	37	CCDS14182.2																																																																																			SCML1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060493.1		+	ENST00000380043.3	Silent	SNP	X : 17770059 - 17770059 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	1379	7
SEMA3D	223117	broad.mit.edu	37	7	84642125	84642125	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr7:84642125T>C	ENST00000284136.6	-	15	1784	c.1741A>G	c.(1741-1743)Atc>Gtc	p.I581V	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	581	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CACTGGGTGATTGGGTCGCCA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(63;442 1191 17318 29975 31528)							NA				0													131	120	124			NA	NA	7		NA											NA				84642125		2203	4300	6503	SO:0001583	missense			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993	223117	223117		Semaphorins, Immunoglobulin superfamily / V-set domain containing	10726	protein-coding gene	gene with protein product		609907			NA		Standard	NM_152754	NM_152754	NA	Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1741A>G	7.37:g.84642125T>C	ENSP00000284136:p.Ile581Val	NA	A6NK46|Q6UW77|Q8NCQ1	37	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	T	4.555	0.102996	0.08731	.	.	ENSG00000153993	ENST00000284136	T	0.20881	2.04	5.93	5.93	0.95920	.	0.228496	0.49305	D	0.000147	T	0.08935	0.0221	N	0.10733	0.035	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32824	-0.9892	10	0.15499	T	0.54	.	5.1256	0.14882	0.0:0.1083:0.1805:0.7112	.	581	O95025	SEM3D_HUMAN	V	581	ENSP00000284136:I581V	ENSP00000284136:I581V	I	-	1	0	SEMA3D	84480061	0.744000	0.28250	0.998000	0.56505	0.601000	0.36947	1.112000	0.31172	2.265000	0.75225	0.533000	0.62120	ATC	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000336084.2		-	ENST00000284136.6	Missense_Mutation	SNP	7 : 84642125 - 84642125 C PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	306	7
SEMA4C	54910	broad.mit.edu	37	2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr2:97533539G>A	ENST00000305476.5	-	2	217	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	29					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													165	149	155			NA	NA	2		NA											NA				97533539		2203	4300	6503	SO:0001583	missense			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758	54910	54910		Semaphorins, Immunoglobulin superfamily / Immunoglobulin-like domain containing	10731	protein-coding gene	gene with protein product	M-Sema F	604462		SEMAI	NA	7656991	Standard	NM_017789	NM_017789	NA	Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.85C>T	2.37:g.97533539G>A	ENSP00000306844:p.Pro29Ser	NA	Q32MJ3|Q7Z5X0	37	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312270	0.81358	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.59638	1.43;0.25;0.25	4.3	4.3	0.51218	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (1);	0.285799	0.25277	N	0.031836	T	0.62097	0.2400	N	0.24115	0.695	0.38811	D	0.955416	D	0.89917	1.0	D	0.97110	1.0	T	0.67968	-0.5533	10	0.87932	D	0	.	12.123	0.53902	0.0:0.0:1.0:0.0	.	29	Q9C0C4	SEM4C_HUMAN	S	29	ENSP00000306844:P29S;ENSP00000393498:P29S;ENSP00000391094:P29S	ENSP00000306844:P29S	P	-	1	0	SEMA4C	96897266	0.004000	0.15560	1.000000	0.80357	0.838000	0.47535	0.611000	0.24268	2.224000	0.72417	0.491000	0.48974	CCG	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252957.1		-	ENST00000305476.5	Missense_Mutation	SNP	2 : 97533539 - 97533539 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	877	6
SMG1	23049	broad.mit.edu	37	16	18858860	18858860	+	Silent	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr16:18858860G>A	ENST00000446231.2	-	38	6323	c.5911C>T	c.(5911-5913)Ctg>Ttg	p.L1971L	SMG1_ENST00000389467.3_Silent_p.L1971L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1971	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGTTGTTGCAGCAAAACTCCC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	119	119			NA	NA	16		NA											NA				18858860		2114	4241	6355	SO:0001819	synonymous_variant			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106	23049	23049			30045	protein-coding gene	gene with protein product	phosphatidylinositol 3-kinase-related kinase	607032	smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)		NA	9455477, 11331269, 17229728	Standard	NM_015092	NM_015092	NA	Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5911C>T	16.37:g.18858860G>A		NA	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	37	CCDS45430.1																																																																																			SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391817.1		-	ENST00000446231.2	Silent	SNP	16 : 18858860 - 18858860 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	400	7
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	NA					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	lung(4)|urinary_tract(1)|prostate(1)											267	267	267			NA	NA	1		NA											NA				158592861		1943	4143	6086	SO:0001583	missense			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554	6708	6708		EF-hand domain containing	11272	protein-coding gene	gene with protein product	elliptocytosis 2	182860	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		NA		Standard	NM_003126	NM_003126	NA	Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val	NA	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051851.3		-	ENST00000368147.4	Missense_Mutation	SNP	1 : 158592861 - 158592861 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	1139	7
SUSD4	55061	broad.mit.edu	37	1	223465880	223465880	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr1:223465880C>T	ENST00000343846.3	-	2	895	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SUSD4_ENST00000484758.2_Intron|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G88R|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Missense_Mutation_p.G88R|SUSD4_ENST00000366878.4_Missense_Mutation_p.G88R			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	88	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCTTGAATCCGTCTTGGCAG	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	124	122			NA	NA	1		NA											NA				223465880		2203	4300	6503	SO:0001583	missense			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502	55061	55061			25470	protein-coding gene	gene with protein product		615827			NA	12477932	Standard	NM_017982	NM_017982	NA	Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.262G>A	1.37:g.223465880C>T	ENSP00000344219:p.Gly88Arg	NA	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	37	CCDS41471.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685607	0.88639	.	.	ENSG00000143502	ENST00000343846;ENST00000366878;ENST00000271787;ENST00000344029	T;T;T	0.76709	-1.04;-1.04;-1.04	5.36	5.36	0.76844	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.46442	D	0.000285	D	0.88742	0.6519	M	0.78344	2.41	0.80722	D	1	D;P	0.89917	1.0;0.952	D;B	0.97110	1.0;0.411	D	0.89846	0.4006	10	0.87932	D	0	-7.532	19.0844	0.93198	0.0:1.0:0.0:0.0	.	88;88	Q5VX71-3;Q5VX71	.;SUSD4_HUMAN	R	88	ENSP00000344219:G88R;ENSP00000355843:G88R;ENSP00000339926:G88R	ENSP00000271787:G88R	G	-	1	0	SUSD4	221532503	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.685000	0.68204	2.506000	0.84524	0.561000	0.74099	GGA	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092592.2		-	ENST00000343846.3	Missense_Mutation	SNP	1 : 223465880 - 223465880 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	622	145
TP53	7157	broad.mit.edu	37	17	7578373	7578373	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr17:7578373delT	ENST00000420246.2	-	5	689	c.557delA	c.(556-558)gatfs	p.D186fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.D186fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.D186fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.D186fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	186	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> E (in a sporadic cancer; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; 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.0?(8)|p.?(2)|p.V173fs*59(2)|p.D186_P191delDGLAPP(1)|p.D186V(1)|p.D186G(1)|p.S185_D186delSD(1)|p.D186fs*22(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)		CTGCTCACCATCGCTATCTGA	0.642		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	17	Whole gene deletion(8)|Deletion - Frameshift(3)|Substitution - Missense(2)|Deletion - In frame(2)|Unknown(2)	bone(4)|central_nervous_system(3)|oesophagus(3)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|liver(1)											48	46	47			NA	NA	17		NA											NA				7578373		2203	4300	6503	SO:0001589	frameshift_variant	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	ENST00000420246.2:c.557delA	17.37:g.7578373delT	ENSP00000391127:p.Asp186fs	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	CCDS45606.1																																																																																			TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Frame_Shift_Del	DEL	17 : 7578373 - 7578373 - PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	226	111
TRIP11	9321	broad.mit.edu	37	14	92470800	92470800	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470800C>G	ENST00000267622.4	-	11	3893	c.3520G>C	c.(3520-3522)Gat>Cat	p.D1174H		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1174					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTTAGTGCATCTATTTCGATG	0.348		NA	T	PDGFRB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													78	68	72			NA	NA	14		NA											NA				92470800		2203	4300	6503	SO:0001583	missense			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815	9321	9321			12305	protein-coding gene	gene with protein product		604505			NA	7776974, 9373237	Standard		NM_004239	NA	Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3520G>C	14.37:g.92470800C>G	ENSP00000267622:p.Asp1174His	NA	O14689|O15154|O95949	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.27|15.27	2.784471|2.784471	0.49997|0.49997	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07800|.	3.16|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59742|0.59742	0.2216|0.2216	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;0.999|.	T|T	0.54721|0.54721	-0.8251|-0.8251	10|5	0.72032|.	D|.	0.01|.	.|.	18.8762|18.8762	0.92337|0.92337	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	910;1174|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	H|T	1174;910|889	ENSP00000267622:D1174H|.	ENSP00000267622:D1174H|.	D|R	-|-	1|2	0|0	TRIP11|TRIP11	91540553|91540553	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.341000|0.341000	0.28922|0.28922	6.025000|6.025000	0.70864|0.70864	2.447000|2.447000	0.82792|0.82792	0.557000|0.557000	0.71058|0.71058	GAT|AGA	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411823.1		-	ENST00000267622.4	Missense_Mutation	SNP	14 : 92470800 - 92470800 G PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	235	9
TRIP11	9321	broad.mit.edu	37	14	92470905	92470905	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470905C>T	ENST00000267622.4	-	11	3788	c.3415G>A	c.(3415-3417)Gaa>Aaa	p.E1139K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1139					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTTTATTTTCATCTTGCAGT	0.338		NA	T	PDGFRB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													65	61	62			NA	NA	14		NA											NA				92470905		2203	4300	6503	SO:0001583	missense			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815	9321	9321			12305	protein-coding gene	gene with protein product		604505			NA	7776974, 9373237	Standard		NM_004239	NA	Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3415G>A	14.37:g.92470905C>T	ENSP00000267622:p.Glu1139Lys	NA	O14689|O15154|O95949	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.785706	0.49997	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.07444	3.19	5.27	4.36	0.52297	.	0.167607	0.51477	D	0.000096	T	0.19725	0.0474	L	0.34521	1.04	0.50632	D	0.999884	D;D	0.89917	1.0;1.0	D;D	0.91635	0.982;0.999	T	0.01156	-1.1434	10	0.62326	D	0.03	.	15.583	0.76459	0.0:0.8616:0.1384:0.0	.	875;1139	F5H1Z0;Q15643	.;TRIPB_HUMAN	K	1139;875	ENSP00000267622:E1139K	ENSP00000267622:E1139K	E	-	1	0	TRIP11	91540658	1.000000	0.71417	0.729000	0.30791	0.253000	0.25986	7.773000	0.85462	1.158000	0.42547	0.563000	0.77884	GAA	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411823.1		-	ENST00000267622.4	Missense_Mutation	SNP	14 : 92470905 - 92470905 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	113	4
TRIP11	9321	broad.mit.edu	37	14	92470968	92470968	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr14:92470968C>G	ENST00000267622.4	-	11	3725	c.3352G>C	c.(3352-3354)Gaa>Caa	p.E1118Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1118					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGTGATATTCTGTTTTTAGA	0.358		NA	T	PDGFRB	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(84;609 1888 9852 42686)		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													84	80	81			NA	NA	14		NA											NA				92470968		2203	4300	6503	SO:0001583	missense			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815	9321	9321			12305	protein-coding gene	gene with protein product		604505			NA	7776974, 9373237	Standard		NM_004239	NA	Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.3352G>C	14.37:g.92470968C>G	ENSP00000267622:p.Glu1118Gln	NA	O14689|O15154|O95949	37	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.52|12.52	1.963335|1.963335	0.34659|0.34659	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.07908|.	3.15|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.054850|.	0.64402|.	D|.	0.000001|.	T|T	0.58206|0.58206	0.2106|0.2106	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.76494|.	0.996;0.999|.	P;D|.	0.67382|.	0.892;0.951|.	T|T	0.53535|0.53535	-0.8425|-0.8425	10|5	0.35671|.	T|.	0.21|.	.|.	18.7643|18.7643	0.91866|0.91866	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	854;1118|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	1118;854|833	ENSP00000267622:E1118Q|.	ENSP00000267622:E1118Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91540721|91540721	1.000000|1.000000	0.71417|0.71417	0.236000|0.236000	0.24074|0.24074	0.094000|0.094000	0.18550|0.18550	7.726000|7.726000	0.84824|0.84824	2.420000|2.420000	0.82092|0.82092	0.563000|0.563000	0.77884|0.77884	GAA|AGA	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411823.1		-	ENST00000267622.4	Missense_Mutation	SNP	14 : 92470968 - 92470968 G PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	186	4
UNC13A	23025	broad.mit.edu	37	19	17720864	17720864	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:17720864G>A	ENST00000519716.2	-	43	4695	c.4696C>T	c.(4696-4698)Cgg>Tgg	p.R1566W	UNC13A_ENST00000428389.2_Missense_Mutation_p.R1654W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1539W|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1585W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1566W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1560W	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1566	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ATGAACGGCCGGAAGATGCCA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													122	130	127			NA	NA	19		NA											NA				17720864		2154	4277	6431	SO:0001583	missense			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477	23025	23025			23150	protein-coding gene	gene with protein product		609894			NA		Standard	XM_038604	NM_001080421	NA	Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4696C>T	19.37:g.17720864G>A	ENSP00000429562:p.Arg1566Trp	NA		37	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007738	0.75046	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	4.13	4.13	0.48395	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.84005	0.5377	M	0.89968	3.075	0.46981	D	0.999273	D	0.89917	1.0	D	0.85130	0.997	D	0.87780	0.2611	10	0.87932	D	0	-17.1577	13.9527	0.64129	0.0:0.0:1.0:0.0	.	1566	Q9UPW8	UN13A_HUMAN	W	1566;1654;1566;1585;1560;1539	ENSP00000429562:R1566W;ENSP00000400409:R1654W;ENSP00000252773:R1566W;ENSP00000447236:R1585W;ENSP00000447572:R1560W;ENSP00000446831:R1539W	ENSP00000252773:R1566W	R	-	1	2	UNC13A	17581864	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.923000	0.56469	1.869000	0.54173	0.478000	0.44815	CGG	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000376169.2		-	ENST00000519716.2	Missense_Mutation	SNP	19 : 17720864 - 17720864 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	642	8
VGLL4	9686	broad.mit.edu	37	3	11643423	11643423	+	Silent	SNP	G	G	A	rs151086238	byFrequency	TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:11643423G>A	ENST00000413604.1	-	0	331				VGLL4_ENST00000404339.1_Silent_p.T51T|VGLL4_ENST00000273038.3_Silent_p.T46T|VGLL4_ENST00000430365.2_Silent_p.T52T			Q14135	VGLL4_HUMAN	vestigial-like family member 4	NA					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GGGGAGGGCCGGTGCGGTGAC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	21,4385	28.1+/-56.4	0,21,2182	79	77	78		156,138	-10.7	0	3	dbSNP_134	78	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VGLL4	NM_001128219.1,NM_014667.2	,	0,22,6481	AA,AG,GG	NA	0.0116,0.4766,0.1692	,	52/297,46/291	11643423	22,12984	2203	4300	6503	SO:0001623	5_prime_UTR_variant			D50911	CCDS2606.1, CCDS46754.1, CCDS46755.1, CCDS46756.1, CCDS68342.1, CCDS68343.1	3p25.2	2014-03-03	2014-03-03		ENSG00000144560	ENSG00000144560	9686	9686			28966	protein-coding gene	gene with protein product			vestigial like 4 (Drosophila)		NA	8590280, 15140898	Standard	NM_014667	NM_001284390	NA	Approved	KIAA0121	uc010hdx.1	Q14135	OTTHUMG00000129739	ENST00000413604.1:c.-40C>T	3.37:g.11643423G>A		NA	B4DTS7|Q7L5V0|Q9BQ78	37																																																																																				VGLL4-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339139.2		-	ENST00000413604.1	5'UTR	SNP	3 : 11643423 - 11643423 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	466	6
ZC3H3	23144	broad.mit.edu	37	8	144620690	144620690	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:144620690C>T	ENST00000262577.5	-	2	878	c.847G>A	c.(847-849)Gcc>Acc	p.A283T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	283					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GCCGGTCTGGCGGGGCCCCCC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	THR/ALA	0,4406		0,0,2203	46	55	52		847	3.4	0	8		52	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZC3H3	NM_015117.2	58	0,1,6499	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	283/949	144620690	1,12999	2203	4297	6500	SO:0001583	missense			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164	23144	23144		Zinc fingers, CCCH-type domain containing	28972	protein-coding gene	gene with protein product			zinc finger CCCH-type domain containing 3	ZC3HDC3	NA	8590280	Standard	NM_015117	NM_015117	NA	Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.847G>A	8.37:g.144620690C>T	ENSP00000262577:p.Ala283Thr	NA	Q14163|Q8N4E2|Q9BUS4	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	C	5.773	0.327034	0.10900	0.0	1.16E-4	ENSG00000014164	ENST00000262577	T	0.02863	4.13	5.25	3.44	0.39384	.	1.396000	0.04407	N	0.365298	T	0.02848	0.0085	L	0.44542	1.39	0.09310	N	1	P	0.41710	0.76	B	0.29862	0.108	T	0.43972	-0.9358	10	0.38643	T	0.18	-6.3777	3.3926	0.07294	0.1411:0.5762:0.1364:0.1464	.	283	Q8IXZ2	ZC3H3_HUMAN	T	283	ENSP00000262577:A283T	ENSP00000262577:A283T	A	-	1	0	ZC3H3	144691833	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.254000	0.08781	0.596000	0.29794	-0.126000	0.14955	GCC	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000382011.2		-	ENST00000262577.5	Missense_Mutation	SNP	8 : 144620690 - 144620690 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	772	6
ZC3H7B	23264	broad.mit.edu	37	22	41742053	41742053	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr22:41742053C>T	ENST00000352645.4	+	14	1763	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	ZC3H7B_ENST00000351589.4_Silent_p.F502F	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	518					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACTGCACCTTCGCCTACCATC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	167	177			NA	NA	22		NA											NA				41742053		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403	23264	23264		Zinc fingers, CCCH-type domain containing, Tetratricopeptide (TTC) repeat domain containing	30869	protein-coding gene	gene with protein product					NA	10470851, 11230166	Standard	NM_017590	NM_017590	NA	Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1506C>T	22.37:g.41742053C>T		NA	A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	37	CCDS14013.1																																																																																			ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000320696.1		+	ENST00000352645.4	Silent	SNP	22 : 41742053 - 41742053 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	988	32
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr8:135614834C>T	ENST00000520727.1	-	7	1391	c.1092G>A	c.(1090-1092)gcG>gcA	p.A364A	ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	75	74			NA	NA	8		NA											NA				135614834		2114	4240	6354	SO:0001819	synonymous_variant			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827	57623	57623		Zinc fingers, C2H2-type	19899	protein-coding gene	gene with protein product		610931	zinc finger protein 406	ZNF406, ZFAT1	NA	10819331, 18329245	Standard	NM_001029939	NM_020863	NA	Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000520727.1:c.1092G>A	8.37:g.135614834C>T		NA	Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	37	CCDS43768.2																																																																																			ZFAT-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000378270.1		-	ENST00000520727.1	Silent	SNP	8 : 135614834 - 135614834 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	648	7
ZFP82	284406	broad.mit.edu	37	19	36884698	36884698	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr19:36884698G>A	ENST00000392161.3	-	5	786	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R182C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTGTTGGCGCACTCTGAAC	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	87	91			NA	NA	19		NA											NA				36884698		2203	4300	6503	SO:0001583	missense			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007	284406	284406		Zinc fingers, C2H2-type, -	28682	protein-coding gene	gene with protein product			zinc finger protein 545, zinc finger protein 82 homolog (mouse), zinc finger protein 82	ZNF545	NA	11853319	Standard	NM_133466	NM_133466	NA	Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.544C>T	19.37:g.36884698G>A	ENSP00000431265:p.Arg182Cys	NA	Q8NC63|Q8TF53	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285544	0.40394	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.16073	2.37;2.37	4.05	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37393	N	0.002115	T	0.26991	0.0661	L	0.43646	1.37	0.22911	N	0.998579	D	0.89917	1.0	D	0.63488	0.915	T	0.01977	-1.1236	10	0.35671	T	0.21	.	10.9206	0.47163	0.0:0.0:0.8124:0.1876	.	182	Q8N141	ZFP82_HUMAN	C	182	ENSP00000431265:R182C;ENSP00000446080:R182C	ENSP00000431265:R182C	R	-	1	0	ZFP82	41576538	0.000000	0.05858	0.991000	0.47740	0.979000	0.70002	-0.345000	0.07770	2.282000	0.76494	0.655000	0.94253	CGC	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000109552.2		-	ENST00000392161.3	Missense_Mutation	SNP	19 : 36884698 - 36884698 A PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	286	5
ZNF148	7707	broad.mit.edu	37	3	124953158	124953158	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr3:124953158C>T	ENST00000360647.4	-	8	1168	c.683G>A	c.(682-684)cGc>cAc	p.R228H	ZNF148_ENST00000468369.1_Missense_Mutation_p.R36H|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000544464.1_Missense_Mutation_p.R23H|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000484491.1_Missense_Mutation_p.R228H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R228H|ZNF148_ENST00000492394.1_Missense_Mutation_p.R228H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	228					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCATCACAGCGAAATGGTTT	0.294		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4406		0,0,2203	100	101	101		683	3.5	1	3		101	1,8593	1.2+/-3.3	0,1,4296	no	missense	ZNF148	NM_021964.2	29	0,1,6499	TT,TC,CC	NA	0.0116,0.0,0.0077	benign	228/795	124953158	1,12999	2203	4297	6500	SO:0001583	missense			U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848	7707	7707		Zinc fingers, C2H2-type	12933	protein-coding gene	gene with protein product		601897	zinc finger protein 148 (pHZ-52)		NA	7557990, 9925940	Standard	NM_021964	NM_021964	NA	Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.683G>A	3.37:g.124953158C>T	ENSP00000353863:p.Arg228His	NA	D3DN27|O00389|O43591|Q58EY5	37	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.738426	0.30774	0.0	1.16E-4	ENSG00000163848	ENST00000360647;ENST00000468369;ENST00000484491;ENST00000544464;ENST00000492394;ENST00000485866;ENST00000543574	T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23	5.32	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.048859	0.85682	D	0.000000	T	0.13243	0.0321	L	0.35644	1.08	0.29133	N	0.879492	B;B	0.12013	0.005;0.001	B;B	0.06405	0.002;0.002	T	0.08027	-1.0742	10	0.44086	T	0.13	0.0288	9.7899	0.40699	0.0:0.786:0.0:0.214	.	36;228	G5E9X2;Q9UQR1	.;ZN148_HUMAN	H	228;36;228;23;228;228;228	ENSP00000353863:R228H;ENSP00000420102:R36H;ENSP00000420335:R228H;ENSP00000437916:R23H;ENSP00000419322:R228H;ENSP00000420448:R228H	ENSP00000353863:R228H	R	-	2	0	ZNF148	126435848	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.648000	0.46647	1.474000	0.48178	0.650000	0.86243	CGC	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355452.4		-	ENST00000360647.4	Missense_Mutation	SNP	3 : 124953158 - 124953158 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	393	65
ZNF184	7738	broad.mit.edu	37	6	27420760	27420760	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A779-01A-11D-A32N-08	TCGA-US-A779-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	5a8a9f4d-daba-4f47-a0c9-65f13d90e4ce	1b04dc15-eff1-4be8-a22d-75f22e9b0cb8	g.chr6:27420760A>T	ENST00000211936.6	-	6	862	c.578T>A	c.(577-579)cTt>cAt	p.L193H	ZNF184_ENST00000377419.1_Missense_Mutation_p.L193H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGTGTTACAAGGTTTGAACT	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													230	228	229			NA	NA	6		NA											NA				27420760		2203	4300	6503	SO:0001583	missense			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654	7738	7738		Zinc fingers, C2H2-type, -	12975	protein-coding gene	gene with protein product		602277	zinc finger protein 184 (Kruppel-like)		NA		Standard	NM_007149	NM_007149	NA	Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.578T>A	6.37:g.27420760A>T	ENSP00000211936:p.Leu193His	NA	B2R715|O60792|Q8TBA9	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.222112	0.58560	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.08370	3.1;3.1	5.32	0.257	0.15574	.	0.879076	0.09630	N	0.776357	T	0.06371	0.0164	M	0.91300	3.195	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31888	-0.9927	10	0.54805	T	0.06	.	7.6793	0.28505	0.642:0.0:0.358:0.0	.	193	Q99676	ZN184_HUMAN	H	193	ENSP00000211936:L193H;ENSP00000366636:L193H	ENSP00000211936:L193H	L	-	2	0	ZNF184	27528739	0.003000	0.15002	0.002000	0.10522	0.577000	0.36160	1.919000	0.40015	0.147000	0.19030	0.454000	0.30748	CTT	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000040146.1		-	ENST00000211936.6	Missense_Mutation	SNP	6 : 27420760 - 27420760 T PAAD-TCGA-US-A779-Tumor-SM-4WPAQ	729	83
