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
ABHD12B	145447	broad.mit.edu	37	14	51370808	51370808	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:51370808G>A	ENST00000337334.2	+	12	974	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R243H|ABHD12B_ENST00000395752.1_Missense_Mutation_p.R213H	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	320							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GAAATTGCACGCAATGCATAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	151	153			NA	NA	14		NA											NA				51370808		2203	4300	6503	SO:0001583	missense			BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969	145447	145447		Abhydrolase domain containing	19837	protein-coding gene	gene with protein product			chromosome 14 open reading frame 29	C14orf29	NA		Standard		NM_181814	NA	Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.959G>A	14.37:g.51370808G>A	ENSP00000336693:p.Arg320His	NA	Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	37	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217756	0.01542	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.23754	1.89;1.89;1.89	4.94	1.25	0.21368	.	0.728272	0.14374	N	0.323573	T	0.15089	0.0364	N	0.25485	0.75	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.0;0.005	T	0.32107	-0.9919	10	0.19147	T	0.46	-16.0339	7.6177	0.28167	0.615:0.0:0.385:0.0	.	320;243	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	H	243;320;213	ENSP00000343951:R243H;ENSP00000336693:R320H;ENSP00000379101:R213H	ENSP00000336693:R320H	R	+	2	0	ABHD12B	50440558	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.220000	0.09215	0.117000	0.18138	-0.238000	0.12139	CGC	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000411030.1		+	ENST00000337334.2	Missense_Mutation	SNP	14 : 51370808 - 51370808 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	694	6
AHNAK2	113146	broad.mit.edu	37	14	105414639	105414639	+	Silent	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:105414639A>G	ENST00000557457.1	-	1	24				AHNAK2_ENST00000333244.5_Silent_p.D2383D			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus				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)			GGAGTTTCACATCCACTTGGC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		11,3799		0,11,1894	110	123	119		7149	-8	0	14		119	0,8230		0,0,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,11,6009	GG,GA,AA	NA	0.0,0.2887,0.0914		2383/5796	105414639	11,12029	1905	4115	6020	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.219+5578T>C	14.37:g.105414639A>G		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 : 105414639 - 105414639 G PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1172	8
AHNAK2	113146	broad.mit.edu	37	14	105416054	105416054	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:105416054G>A	ENST00000557457.1	-	1	24				AHNAK2_ENST00000333244.5_Missense_Mutation_p.P1912S			Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	NA						nucleus		p.P1912S(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)			TTGAAACTGGGCATATCCACC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	urinary_tract(1)											124	135	132			NA	NA	14		NA											NA				105416054		1854	4063	5917	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.219+4163C>T	14.37:g.105416054G>A		NA	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	37		.	.	.	.	.	.	.	.	.	.	-	14.70	2.614154	0.46631	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.41	3.41	0.39046	.	.	.	.	.	T	0.21468	0.0517	M	0.88031	2.925	0.32229	N	0.574173	D	0.89917	1.0	D	0.83275	0.996	T	0.31641	-0.9936	9	0.46703	T	0.11	-18.4713	14.464	0.67470	0.0:0.0:1.0:0.0	.	1912	Q8IVF2	AHNK2_HUMAN	S	1912	ENSP00000353114:P1912S	ENSP00000353114:P1912S	P	-	1	0	AHNAK2	104487099	0.545000	0.26449	0.996000	0.52242	0.111000	0.19643	0.860000	0.27871	1.460000	0.47911	0.485000	0.47835	CCC	AHNAK2-003	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000410299.1		-	ENST00000557457.1	Intron	SNP	14 : 105416054 - 105416054 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1297	7
ARL14EP	120534	broad.mit.edu	37	11	30358275	30358275	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:30358275G>A	ENST00000282032.3	+	4	931	c.716G>A	c.(715-717)cGc>cAc	p.R239H		NM_152316.1	NP_689529.1			ADP-ribosylation factor-like 14 effector protein	NA											NA						CGCTGTGACCGCAAGTGGCTG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	143	151			NA	NA	11		NA											NA				30358275		2202	4299	6501	SO:0001583	missense			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219	120534	120534			26798	protein-coding gene	gene with protein product		612295	chromosome 11 open reading frame 46	C11orf46	NA	21458045	Standard	NM_152316	XM_005252792	NA	Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.716G>A	11.37:g.30358275G>A	ENSP00000282032:p.Arg239His	NA		37	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472899	0.96274	.	.	ENSG00000152219	ENST00000282032	T	0.80304	-1.36	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91211	0.4999	10	0.87932	D	0	-35.8543	19.571	0.95419	0.0:0.0:1.0:0.0	.	239	Q8N8R7	CK046_HUMAN	H	239	ENSP00000282032:R239H	ENSP00000282032:R239H	R	+	2	0	C11orf46	30314851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.709000	0.92574	0.655000	0.94253	CGC	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388129.1		+	ENST00000282032.3	Missense_Mutation	SNP	11 : 30358275 - 30358275 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	534	6
AURKA	6790	broad.mit.edu	37	20	54945248	54945248	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:54945248C>G	ENST00000347343.2	-	9	1445	c.1178G>C	c.(1177-1179)tGc>tCc	p.C393S	AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395911.1_Missense_Mutation_p.C393S|AURKA_ENST00000312783.6_Missense_Mutation_p.C393S|AURKA_ENST00000395909.4_Missense_Mutation_p.C393S|AURKA_ENST00000395913.3_Missense_Mutation_p.C393S|AURKA_ENST00000395914.1_Missense_Mutation_p.C393S|AURKA_ENST00000371356.2_Missense_Mutation_p.C393S|AURKA_ENST00000395915.3_Missense_Mutation_p.C393S	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	393					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTTGTTTTGGCAATTTGATGG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)							NA				0													221	191	201			NA	NA	20		NA											NA				54945248		2203	4300	6503	SO:0001583	missense			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586	6790	6790		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits	11393	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 47, Aurora-A kinase	603072	serine/threonine kinase 15,  serine/threonine kinase 6	STK15, STK6	NA	9174055, 9771714	Standard	NM_003600	NM_003600	NA	Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.1178G>C	20.37:g.54945248C>G	ENSP00000216911:p.Cys393Ser	NA	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	37	CCDS13451.1	.	.	.	.	.	.	.	.	.	.	C	0.570	-0.841543	0.02692	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.25	4.31	0.51392	.	0.369213	0.29417	N	0.012203	T	0.37865	0.1019	N	0.16066	0.365	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.19095	-1.0316	10	0.06494	T	0.89	-7.0082	9.2799	0.37722	0.0:0.6498:0.275:0.0752	.	325;393;393	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	S	393	ENSP00000379245:C393S;ENSP00000379250:C393S;ENSP00000216911:C393S;ENSP00000379251:C393S;ENSP00000321591:C393S;ENSP00000360407:C393S;ENSP00000379249:C393S;ENSP00000379247:C393S	ENSP00000321591:C393S	C	-	2	0	AURKA	54378655	0.459000	0.25768	0.322000	0.25334	0.737000	0.42083	0.874000	0.28065	1.347000	0.45714	-0.156000	0.13503	TGC	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079804.3		-	ENST00000347343.2	Missense_Mutation	SNP	20 : 54945248 - 54945248 G PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	590	5
BNIPL	149428	broad.mit.edu	37	1	151011320	151011320	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:151011320G>A	ENST00000295294.7	+	4	614	c.5G>A	c.(4-6)cGc>cAc	p.R2H	BNIPL_ENST00000368931.3_Missense_Mutation_p.R84H	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	84					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCCCCATGCGCAAGCGTCTT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	64	63	63		5,251	5.2	1	1		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BNIPL	NM_001159642.1,NM_138278.3	29,29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	2/276,84/358	151011320	1,13005	2203	4300	6503	SO:0001583	missense			AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141	149428	149428			16976	protein-coding gene	gene with protein product		611275			NA	12681488, 11741952	Standard	NM_138279	NM_138278	NA	Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000295294.7:c.5G>A	1.37:g.151011320G>A	ENSP00000295294:p.Arg2His	NA	Q6DK43|Q8TCY7|Q8WYG2	37	CCDS53362.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374640	0.82573	0.0	1.16E-4	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	T;T;T	0.61742	0.81;0.69;0.08	5.15	5.15	0.70609	.	0.227351	0.39759	N	0.001277	T	0.73481	0.3592	M	0.87900	2.915	0.34662	D	0.72282	D	0.89917	1.0	D	0.73380	0.98	T	0.79332	-0.1847	10	0.87932	D	0	.	14.0116	0.64500	0.0:0.0:1.0:0.0	.	84	Q7Z465	BNIPL_HUMAN	H	84;82;2;2	ENSP00000357927:R84H;ENSP00000355333:R82H;ENSP00000295294:R2H	ENSP00000295294:R2H	R	+	2	0	BNIPL	149277944	0.996000	0.38824	0.991000	0.47740	0.892000	0.51952	2.378000	0.44309	2.677000	0.91161	0.563000	0.77884	CGC	BNIPL-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085093.1		+	ENST00000295294.7	Missense_Mutation	SNP	1 : 151011320 - 151011320 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	424	5
BRCA2	675	broad.mit.edu	37	13	32912028	32912028	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr13:32912028G>A	ENST00000380152.3	+	11	3769	c.3536G>A	c.(3535-3537)aGc>aAc	p.S1179N	BRCA2_ENST00000544455.1_Missense_Mutation_p.S1179N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1179			S -> N (in BC).		cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAGACAGCAGCAAGCAATTT	0.388		NA	D, Mis, N, F, S		breast, ovarian, pancreatic	breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		L, E	0			GRCh37	CM003132	BRCA2	M							93	93	93			NA	NA	13		NA											NA				32912028		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	675	675		Fanconi anemia, complementation groups	1101	protein-coding gene	gene with protein product	BRCA1/BRCA2-containing complex, subunit 2	600185	Fanconi anemia, complementation group D1	FANCD1, FACD, FANCD	NA	8091231, 7581463, 15057823	Standard	NM_000059	NM_000059	NA	Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3536G>A	13.37:g.32912028G>A	ENSP00000369497:p.Ser1179Asn	NA	O00183|O15008|Q13879|Q5TBJ7	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	1.834	-0.469214	0.04445	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00730	5.77;5.77	5.75	2.62	0.31277	.	0.385490	0.28031	N	0.016874	T	0.00875	0.0029	L	0.47190	1.495	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.46555	-0.9183	10	0.30078	T	0.28	.	6.9243	0.24405	0.3028:0.1303:0.5668:0.0	.	1179	P51587	BRCA2_HUMAN	N	1179	ENSP00000369497:S1179N;ENSP00000439902:S1179N	ENSP00000369497:S1179N	S	+	2	0	BRCA2	31810028	0.007000	0.16637	0.502000	0.27614	0.061000	0.15899	0.370000	0.20433	0.763000	0.33175	0.655000	0.94253	AGC	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000046000.2		+	ENST00000380152.3	Missense_Mutation	SNP	13 : 32912028 - 32912028 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	476	6
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											200	201	200			NA	NA	15		NA											NA				39544396		2200	4297	6497	SO:0001819	synonymous_variant				CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746	400360	400360			33797	protein-coding gene	gene with protein product					NA		Standard	NM_207445	NM_207445	NA	Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A		NA	B7ZVZ9	37	CCDS10049.1																																																																																			C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252083.1		+	ENST00000318578.3	Silent	SNP	15 : 39544396 - 39544396 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1094	6
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAAGGCATGCGGCCCCTGGC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	49			NA	NA	19		NA											NA				13338336		1877	4112	5989	SO:0001583	missense			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837	773	773		Calcium channel subunits, Voltage-gated ion channels / Calcium channels	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP	NA	8825650, 16382099, 23827678	Standard	NM_000068	NM_000068	NA	Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5534G>A	19.37:g.13338336C>T	ENSP00000353362:p.Arg1845His	NA	P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9UDC4	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	CACNA1A	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000104062.2		-	ENST00000360228.5	Missense_Mutation	SNP	19 : 13338336 - 13338336 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	331	5
CCDC13	152206	broad.mit.edu	37	3	42784422	42784422	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:42784422C>T	ENST00000310232.6	-	8	1036	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CCDC13-AS1_ENST00000446950.1_RNA|CCDC13-AS1_ENST00000418161.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	318										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTCCAGGCTGCGGATCCTCAG	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	150	154			NA	NA	3		NA											NA				42784422		2203	4300	6503	SO:0001583	missense			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607	152206	152206			26358	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_144719	NM_144719	NA	Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.953G>A	3.37:g.42784422C>T	ENSP00000309836:p.Arg318His	NA		37	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602578	0.46423	.	.	ENSG00000244607	ENST00000310232	T	0.27402	1.67	4.69	2.91	0.33838	.	0.060556	0.64402	D	0.000003	T	0.26846	0.0657	L	0.55481	1.735	0.42623	D	0.993358	B	0.25169	0.119	B	0.23574	0.047	T	0.06092	-1.0846	10	0.44086	T	0.13	.	8.5036	0.33173	0.0:0.745:0.0:0.255	.	318	Q8IYE1	CCD13_HUMAN	H	318	ENSP00000309836:R318H	ENSP00000309836:R318H	R	-	2	0	CCDC13	42759426	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	1.907000	0.39897	0.602000	0.29896	-0.216000	0.12614	CGC	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256652.1		-	ENST00000310232.6	Missense_Mutation	SNP	3 : 42784422 - 42784422 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	884	6
CELSR2	1952	broad.mit.edu	37	1	109807082	109807082	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:109807082C>T	ENST00000271332.3	+	11	5357	c.5296C>T	c.(5296-5298)Cgg>Tgg	p.R1766W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1766	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)		CCAGGGTGTGCGGGTGAGCGA	0.652		NA												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													82	73	76			NA	NA	1		NA											NA				109807082		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.5296C>T	1.37:g.109807082C>T	ENSP00000271332:p.Arg1766Trp	NA	Q5T2Y7|Q92566	37	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228775	0.39399	.	.	ENSG00000143126	ENST00000271332	T	0.81247	-1.47	4.99	1.79	0.24919	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82710	0.5096	L	0.58428	1.81	0.50313	D	0.99986	D	0.89917	1.0	D	0.87578	0.998	T	0.82575	-0.0389	9	0.42905	T	0.14	.	14.6648	0.68899	0.6517:0.3483:0.0:0.0	.	1766	Q9HCU4	CELR2_HUMAN	W	1766	ENSP00000271332:R1766W	ENSP00000271332:R1766W	R	+	1	2	CELSR2	109608605	0.992000	0.36948	0.998000	0.56505	0.410000	0.31052	0.567000	0.23608	0.623000	0.30267	0.561000	0.74099	CGG	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033200.1		+	ENST00000271332.3	Missense_Mutation	SNP	1 : 109807082 - 109807082 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	317	5
COL9A1	1297	broad.mit.edu	37	6	71012702	71012702	+	Translation_Start_Site	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:71012702C>T	ENST00000357250.6	-	0	84				COL9A1_ENST00000370496.3_De_novo_Start_InFrame	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	NA					axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGTCCCCTCACGACCCCTTCA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													188	174	178			NA	NA	6		NA											NA				71012702		692	1591	2283						CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280	1297	1297		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens	2217	protein-coding gene	gene with protein product		120210			NA	1429648	Standard		NM_001851	NA	Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:	6.37:g.71012702C>T		NA	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	37	CCDS4971.1																																																																																			COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041131.2		-	ENST00000357250.6	De_novo_Start_InFrame	SNP	6 : 71012702 - 71012702 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	238	7
CRHR1	1394	broad.mit.edu	37	17	43906638	43906638	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:43906638A>G	ENST00000314537.5	+	5	610	c.385A>G	c.(385-387)Atc>Gtc	p.I129V	CRHR1_ENST00000339069.5_Missense_Mutation_p.I28V|CRHR1_ENST00000352855.5_Missense_Mutation_p.I89V|CRHR1_ENST00000398285.3_Missense_Mutation_p.I129V|CRHR1_ENST00000577353.1_Missense_Mutation_p.I129V|CRHR1_ENST00000293493.7_5'UTR	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	129					female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGCCACTGTATCTCCCTGGT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(110;57 1568 10207 38216 49865)							NA				0													89	96	94			NA	NA	17		NA											NA				43906638		2073	4202	6275	SO:0001583	missense			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088	1394	1394		GPCR / Class B : Corticotropin-releasing factor receptors	2357	protein-coding gene	gene with protein product	corticotropin-releasing factor receptor	122561		CRHR	NA	7590738	Standard		NM_004382	NA	Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000314537.5:c.385A>G	17.37:g.43906638A>G	ENSP00000326060:p.Ile129Val	NA	Q13008|Q4QRJ1|Q9UK64	37	CCDS42350.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908988	0.33721	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.68903	1.01;1.16;1.34;-0.36;1.34	5.43	-0.961	0.10337	GPCR, family 2-like (1);	0.232077	0.43747	N	0.000524	T	0.38612	0.1047	N	0.11284	0.12	0.80722	D	1	B;B;B;B;B;B	0.19073	0.001;0.0;0.0;0.033;0.0;0.0	B;B;B;B;B;B	0.18871	0.003;0.001;0.003;0.023;0.002;0.003	T	0.13176	-1.0519	10	0.09843	T	0.71	.	9.8797	0.41225	0.5155:0.0:0.4845:0.0	.	129;129;28;28;89;129	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	28;129;129;129;89	ENSP00000340522:I28V;ENSP00000381333:I129V;ENSP00000326060:I129V;ENSP00000239167:I129V;ENSP00000344068:I89V	ENSP00000326060:I129V	I	+	1	0	CRHR1	41262419	0.771000	0.28555	0.990000	0.47175	0.979000	0.70002	0.984000	0.29565	-0.209000	0.10156	0.459000	0.35465	ATC	CRHR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000441242.2		+	ENST00000314537.5	Missense_Mutation	SNP	17 : 43906638 - 43906638 G PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	207	4
EP400	57634	broad.mit.edu	37	12	132466657	132466657	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:132466657G>A	ENST00000333577.4	+	6	1780	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000330386.6_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000389561.2_Silent_p.P521P			Q96L91	EP400_HUMAN	E1A binding protein p400	557					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACGCCGCAGGCCGCGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G		0,4374		0,0,2187	114	130	125		1563	-3.2	0.7	12		125	1,8527		0,1,4263	no	coding-synonymous	EP400	NM_015409.4		0,1,6450	AA,AG,GG	NA	0.0117,0.0,0.0078		521/3124	132466657	1,12901	2187	4264	6451	SO:0001819	synonymous_variant			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495	57634	57634			11958	protein-coding gene	gene with protein product		606265	trinucleotide repeat containing 12	TNRC12	NA	9225980, 11509179	Standard	NM_015409	NM_015409	NA	Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1671G>A	12.37:g.132466657G>A		NA	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	37																																																																																				EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding			+	ENST00000333577.4	Silent	SNP	12 : 132466657 - 132466657 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1224	8
FAM43B	163933	broad.mit.edu	37	1	20879636	20879636	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:20879636G>A	ENST00000332947.4	+	1	705	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	57										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CGTGTGTTCCGCAGCCGGCGC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	47	47			NA	NA	1		NA											NA				20879636		2203	4300	6503	SO:0001583	missense			AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114	163933	163933			31791	protein-coding gene	gene with protein product					NA	21461611	Standard	NM_207334	NM_207334	NA	Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.170G>A	1.37:g.20879636G>A	ENSP00000331397:p.Arg57His	NA	A5PL01	37	CCDS209.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458134	0.43634	.	.	ENSG00000183114	ENST00000332947	.	.	.	4.17	4.17	0.49024	.	0.144774	0.45606	U	0.000351	T	0.38852	0.1056	N	0.14661	0.345	0.40418	D	0.979817	B	0.27732	0.187	B	0.16722	0.016	T	0.36016	-0.9765	9	0.40728	T	0.16	-15.4057	13.9497	0.64109	0.0:0.0:1.0:0.0	.	57	Q6ZT52	FA43B_HUMAN	H	57	.	ENSP00000331397:R57H	R	+	2	0	FAM43B	20752223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.070000	0.64376	1.875000	0.54330	0.455000	0.32223	CGC	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127759.1		+	ENST00000332947.4	Missense_Mutation	SNP	1 : 20879636 - 20879636 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	181	5
FAM53B	9679	broad.mit.edu	37	10	126384776	126384776	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:126384776C>T	ENST00000280780.6	-	3	514	c.84G>A	c.(82-84)acG>acA	p.T28T	FAM53B_ENST00000337318.3_Silent_p.T28T|FAM53B_ENST00000392754.3_Silent_p.T28T|RP11-12J10.3_ENST00000494792.1_3'UTR			Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	28										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTTCTTTGGCGTGTGCTGAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													216	204	208			NA	NA	10		NA											NA				126384776		2203	4300	6503	SO:0001819	synonymous_variant			D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319	9679	9679			28968	protein-coding gene	gene with protein product			KIAA0140	KIAA0140	NA	8590280	Standard	NM_014661	NM_014661	NA	Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000280780.6:c.84G>A	10.37:g.126384776C>T		NA	D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	37																																																																																				FAM53B-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000050881.1		-	ENST00000280780.6	Silent	SNP	10 : 126384776 - 126384776 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	708	5
FBXW2	26190	broad.mit.edu	37	9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:123527025G>A	ENST00000608872.1	-	8	1364	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	NA					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CTCTCTGTCCGCAAGTCCATG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	105	105			NA	NA	9		NA											NA				123527025		1948	4154	6102	SO:0001583	missense			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402	NA	26190		F-boxes / WD-40 domains, WD repeat domain containing	13608	protein-coding gene	gene with protein product		609071	F-box and WD-40 domain protein 2		NA	10531035, 10828603	Standard		NM_012164	NA	Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1177C>T	9.37:g.123527025G>A	ENSP00000476369:p.Arg393Trp	NA	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	37	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972103	0.34754	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.19250	2.16;2.16	4.95	0.397	0.16314	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	L	0.47716	1.5	0.58432	D	0.999996	B;D;D	0.89917	0.107;1.0;0.999	B;D;D	0.75020	0.009;0.985;0.985	T	0.09443	-1.0674	10	0.72032	D	0.01	-9.1372	13.1259	0.59354	0.0:0.0:0.4582:0.5418	.	328;393;393	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	W	393;328;393	ENSP00000363036:R393W;ENSP00000341161:R328W	ENSP00000341161:R328W	R	-	1	2	FBXW2	122566846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	0.155000	0.19261	0.563000	0.77884	CGG	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053834.2		-	ENST00000608872.1	Missense_Mutation	SNP	9 : 123527025 - 123527025 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	514	5
GGNBP2	79893	broad.mit.edu	37	17	34913131	34913131	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:34913131G>A	ENST00000304718.4	+	4	699	c.383G>A	c.(382-384)tGc>tAc	p.C128Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	128					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACTAGAAGCTGCATGACTGAT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	106	109			NA	NA	17		NA											NA				34913131		2203	4300	6503	SO:0001583	missense			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311	79893	79893			19357	protein-coding gene	gene with protein product		612275	zinc finger protein 403	ZNF403	NA	11728448	Standard	NM_024835	NM_024835	NA	Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.383G>A	17.37:g.34913131G>A	ENSP00000307617:p.Cys128Tyr	NA	B2RPK7|Q96T90|Q9GZR8|Q9H767	37	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509292	0.27036	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.14	5.14	0.70334	.	0.046253	0.85682	D	0.000000	T	0.36276	0.0961	N	0.08118	0	0.80722	D	1	B;B	0.25955	0.138;0.002	B;B	0.18561	0.022;0.001	T	0.21586	-1.0241	9	0.32370	T	0.25	-6.8109	13.9329	0.64007	0.0:0.0:0.8478:0.1522	.	128;128	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	Y	128	.	ENSP00000307617:C128Y	C	+	2	0	GGNBP2	31987244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.027000	0.76463	2.579000	0.87056	0.585000	0.79938	TGC	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256684.2		+	ENST00000304718.4	Missense_Mutation	SNP	17 : 34913131 - 34913131 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	329	5
GPR50	9248	broad.mit.edu	37	X	150348992	150348992	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:150348992C>T	ENST00000218316.3	+	2	1006	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	313					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGCTATGCGGCACCCTAT	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG	0,3509		0,0,1469,571	117	114	115		937	2.4	0.8	X		115	1,6530		0,1,2363,1803	no	missense	GPR50	NM_004224.3	101	0,1,3832,2374	TT,TC,CC,C	NA	0.0153,0.0,0.01	benign	313/618	150348992	1,10039	2040	4167	6207	SO:0001583	missense			U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195	9248	9248		GPCR / Class A : Orphans	4506	protein-coding gene	gene with protein product		300207			NA	9933574, 18400093	Standard	NM_004224	NM_004224	NA	Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.937C>T	X.37:g.150348992C>T	ENSP00000218316:p.Arg313Trp	NA	Q0VGG3|Q3ZAR0	37	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663817	0.29515	0.0	1.53E-4	ENSG00000102195	ENST00000218316	T	0.38560	1.13	4.63	2.44	0.29823	.	0.225469	0.43919	D	0.000506	T	0.18635	0.0447	N	0.24115	0.695	0.09310	N	1	P	0.38335	0.627	B	0.23852	0.049	T	0.09862	-1.0655	10	0.31617	T	0.26	-8.6056	5.3646	0.16107	0.3293:0.4826:0.1881:0.0	.	313	Q13585	MTR1L_HUMAN	W	313	ENSP00000218316:R313W	ENSP00000218316:R313W	R	+	1	2	GPR50	150099650	0.998000	0.40836	0.849000	0.33467	0.910000	0.53928	0.376000	0.20535	1.903000	0.55091	0.529000	0.55759	CGG	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060874.1		+	ENST00000218316.3	Missense_Mutation	SNP	X : 150348992 - 150348992 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	960	8
IFNL3	282617	broad.mit.edu	37	19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V		NM_172139.2	NP_742151.2			interferon, lambda 3	NA											NA						CAGAAGCGACTCTTCCTAGAC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													24	32	29			NA	NA	19		NA											NA				39735130		2201	4298	6499	SO:0001583	missense			AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110	282617	282617		Interferons	18365	protein-coding gene	gene with protein product		607402	interleukin 28B, interleukin 28B (interferon, lambda 3)	IL28B	NA		Standard	NM_172139	NM_172139	NA	Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.185A>T	19.37:g.39735130T>A	ENSP00000409000:p.Glu62Val	NA		37	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841941	0.51057	.	.	ENSG00000197110	ENST00000413851	T	0.37058	1.22	3.01	3.01	0.34805	.	0.775606	0.11634	N	0.544460	T	0.55625	0.1932	M	0.81239	2.535	0.09310	N	1	D	0.59357	0.985	P	0.61201	0.885	T	0.41270	-0.9518	10	0.87932	D	0	-10.0409	7.6568	0.28379	0.0:0.0:0.0:1.0	.	62	Q8IZI9	IL28B_HUMAN	V	62	ENSP00000409000:E62V	ENSP00000409000:E62V	E	-	2	0	IL28B	44426970	0.007000	0.16637	0.052000	0.19188	0.307000	0.27823	1.388000	0.34442	1.388000	0.46506	0.172000	0.16884	GAG	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000463832.1		-	ENST00000413851.2	Missense_Mutation	SNP	19 : 39735130 - 39735130 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	95	4
KARS	3735	broad.mit.edu	37	16	75665392	75665392	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:75665392G>A	ENST00000319410.5	-	10	1379	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	KARS_ENST00000302445.3_Missense_Mutation_p.R392W|KARS_ENST00000568378.1_Intron	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	392					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTGATTCGCCGGAAGGGTGGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	111	113			NA	NA	16		NA											NA				75665392		2198	4300	6498	SO:0001583	missense			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	3735	3735	6.1.1.6	Aminoacyl tRNA synthetases / Class II	6215	protein-coding gene	gene with protein product	lysine tRNA ligase	601421	deafness, autosomal recessive 89	DFNB89	NA	8812440, 9278442, 23768514	Standard	NM_005548	NM_005548	NA	Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000319410.5:c.1258C>T	16.37:g.75665392G>A	ENSP00000325448:p.Arg420Trp	NA	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	37	CCDS45532.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878411	0.51801	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.79940	-1.32;-1.32	5.91	4.94	0.65067	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.046280	0.85682	D	0.000000	D	0.86973	0.6062	H	0.97983	4.12	0.80722	D	1	B;B	0.33103	0.397;0.197	B;B	0.29524	0.103;0.081	D	0.88357	0.2985	10	0.87932	D	0	-9.8305	12.9716	0.58515	0.0:0.0:0.7056:0.2944	.	420;392	Q15046-2;Q15046	.;SYK_HUMAN	W	420;392	ENSP00000325448:R420W;ENSP00000303043:R392W	ENSP00000303043:R392W	R	-	1	2	KARS	74222893	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.716000	0.68437	1.480000	0.48289	-0.181000	0.13052	CGG	KARS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269024.1		-	ENST00000319410.5	Missense_Mutation	SNP	16 : 75665392 - 75665392 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	496	6
KMT2C	58508	broad.mit.edu	37	7	151921149	151921149	+	Nonsense_Mutation	SNP	G	G	A	rs4024370		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:151921149G>A	ENST00000262189.6	-	20	3492	c.3274C>T	c.(3274-3276)Cga>Tga	p.R1092*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R1092*	NM_170606.2	NP_733751.2			lysine (K)-specific methyltransferase 2C	NA											NA						CTATAGTTTCGATAGCAGACT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	66	68			NA	NA	7		NA											NA				151921149		2203	4300	6503	SO:0001587	stop_gained			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609	58508	58508		Chromatin-modifying enzymes / K-methyltransferases, Zinc fingers, PHD-type	13726	protein-coding gene	gene with protein product		606833	myeloid/lymphoid or mixed-lineage leukemia 3	MLL3	NA	10819331	Standard		XM_005250026	NA	Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3274C>T	7.37:g.151921149G>A	ENSP00000262189:p.Arg1092*	NA		37	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	41	8.824098	0.98968	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	5.39	0.77823	.	0.000000	0.41396	D	0.000888	.	.	.	.	.	.	0.46564	D	0.999102	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4512	0.61172	0.075:0.0:0.925:0.0	rs4024370	.	.	.	X	1092	.	ENSP00000262189:R1092X	R	-	1	2	MLL3	151552082	0.985000	0.35326	0.768000	0.31515	0.990000	0.78478	4.399000	0.59703	2.528000	0.85240	0.650000	0.86243	CGA	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318887.3		-	ENST00000262189.6	Nonsense_Mutation	SNP	7 : 151921149 - 151921149 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	325	7
KRT20	54474	broad.mit.edu	37	17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	36	36			NA	NA	17		NA											NA				39041356		2203	4300	6503	SO:0001583	missense			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431	54474	54474		-, Intermediate filaments type I, keratins (acidic)	20412	protein-coding gene	gene with protein product		608218			NA	8359595, 12515621, 16831889	Standard		NM_019010	NA	Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.82C>T	17.37:g.39041356G>A	ENSP00000167588:p.Arg28Cys	NA	B2R6W7	37	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077922	0.55753	.	.	ENSG00000171431	ENST00000167588	D	0.84070	-1.8	5.17	1.94	0.25998	.	1.630110	0.03448	N	0.210284	T	0.69842	0.3156	N	0.14661	0.345	0.09310	N	0.99999	B	0.10296	0.003	B	0.04013	0.001	T	0.58323	-0.7656	10	0.38643	T	0.18	.	4.8168	0.13371	0.0849:0.1149:0.5878:0.2124	.	28	P35900	K1C20_HUMAN	C	28	ENSP00000167588:R28C	ENSP00000167588:R28C	R	-	1	0	KRT20	36294882	0.999000	0.42202	0.609000	0.28983	0.014000	0.08584	1.653000	0.37323	1.332000	0.45431	0.655000	0.94253	CGC	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257202.2		-	ENST00000167588.3	Missense_Mutation	SNP	17 : 39041356 - 39041356 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	269	6
LAMB3	3914	broad.mit.edu	37	1	209790792	209790792	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:209790792G>A	ENST00000356082.4	-	21	3325	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	LAMB3_ENST00000367030.3_Missense_Mutation_p.A1064V|LAMB3_ENST00000391911.1_Missense_Mutation_p.A1064V	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1064	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCACCTTCCGCAAGCTGCTG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CP025158	LAMB3	X		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	75	73	74		3191,3191,3191	5.8	0.4	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	64,64,64	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1064/1173,1064/1173,1064/1173	209790792	1,13005	2203	4300	6503	SO:0001583	missense			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878	3914	3914		Laminins	6490	protein-coding gene	gene with protein product		150310	laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))	LAMNB1	NA	8088808, 7774918	Standard	NM_000228	NM_001127641	NA	Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3191C>T	1.37:g.209790792G>A	ENSP00000348384:p.Ala1064Val	NA	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652405	0.67472	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.78003	1.89;1.89;1.89;-1.14	5.77	5.77	0.91146	.	0.109031	0.64402	D	0.000010	T	0.70527	0.3234	L	0.34521	1.04	0.44323	D	0.997209	P	0.51351	0.944	B	0.41917	0.37	T	0.75639	-0.3248	10	0.87932	D	0	.	15.5396	0.76031	0.0:0.0:1.0:0.0	.	1064	Q13751	LAMB3_HUMAN	V	1064;1064;1064;133	ENSP00000375778:A1064V;ENSP00000348384:A1064V;ENSP00000355997:A1064V;ENSP00000398683:A133V	ENSP00000348384:A1064V	A	-	2	0	LAMB3	207857415	0.980000	0.34600	0.383000	0.26132	0.309000	0.27889	5.823000	0.69272	2.743000	0.94032	0.456000	0.33151	GCG	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088525.2		-	ENST00000356082.4	Missense_Mutation	SNP	1 : 209790792 - 209790792 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	511	5
LINGO1	84894	broad.mit.edu	37	15	77907685	77907685	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:77907685G>A	ENST00000355300.6	-	2	738	c.564C>T	c.(562-564)agC>agT	p.S188S	LINGO1_ENST00000561030.1_Silent_p.S182S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	188					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		p.S182S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGTTGAGGCCGCTGAAGGCGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											122	129	127			NA	NA	15		NA											NA				77907685		2168	4265	6433	SO:0001819	synonymous_variant			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783	84894	84894		Immunoglobulin superfamily / I-set domain containing	21205	protein-coding gene	gene with protein product		609791	leucine rich repeat neuronal 6A	LRRN6A	NA	14686891	Standard	NM_032808	XM_006720723	NA	Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.564C>T	15.37:g.77907685G>A		NA	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	37	CCDS45313.1																																																																																			LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000419546.1		-	ENST00000355300.6	Silent	SNP	15 : 77907685 - 77907685 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	617	5
ME3	10873	broad.mit.edu	37	11	86209141	86209141	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:86209141C>T	ENST00000393324.3	-	5	822	c.569G>A	c.(568-570)cGc>cAc	p.R190H	ME3_ENST00000359636.2_Missense_Mutation_p.R190H|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000543262.1_Missense_Mutation_p.R190H|ME3_ENST00000323418.6_Missense_Mutation_p.R128H|ME3_ENST00000525957.1_5'UTR	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	190					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCCCAGGATGCGCTCCCCATC	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	81	84			NA	NA	11		NA											NA				86209141		2202	4299	6501	SO:0001583	missense			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	10873	10873	1.1.1.40		6985	protein-coding gene	gene with protein product		604626			NA	7818469	Standard		NM_001161586	NA	Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.569G>A	11.37:g.86209141C>T	ENSP00000376998:p.Arg190His	NA		37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511271	0.85389	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.63	4.72	0.59763	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86637	0.1889	9	.	.	.	.	14.1833	0.65588	0.0:0.9276:0.0:0.0724	.	190	Q16798	MAON_HUMAN	H	190;190;190;190;128;128	ENSP00000352657:R190H;ENSP00000440246:R190H;ENSP00000376998:R190H;ENSP00000431182:R190H;ENSP00000315255:R128H	.	R	-	2	0	ME3	85886789	1.000000	0.71417	0.997000	0.53966	0.701000	0.40568	7.619000	0.83057	1.382000	0.46385	-0.136000	0.14681	CGC	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393767.2		-	ENST00000393324.3	Missense_Mutation	SNP	11 : 86209141 - 86209141 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	512	5
MLANA	2315	broad.mit.edu	37	9	5897571	5897571	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:5897571G>A	ENST00000381477.3	+	3	252	c.92G>A	c.(91-93)gGc>gAc	p.G31D	MLANA_ENST00000381471.1_Missense_Mutation_p.G31D|MLANA_ENST00000381476.1_Missense_Mutation_p.G31D|MLANA_ENST00000490518.1_3'UTR	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	31						endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		GCTGGGATCGGCATCCTGACA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	148	153			NA	NA	9		NA											NA				5897571		2203	4300	6503	SO:0001583	missense				CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215	2315	2315			7124	protein-coding gene	gene with protein product		605513			NA		Standard		NM_005511	NA	Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.92G>A	9.37:g.5897571G>A	ENSP00000370886:p.Gly31Asp	NA		37	CCDS6466.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782277	0.49891	.	.	ENSG00000120215	ENST00000381477;ENST00000381476;ENST00000381471	.	.	.	6.03	6.03	0.97812	.	0.187468	0.46442	D	0.000285	T	0.78610	0.4310	M	0.70275	2.135	0.51233	D	0.99991	D	0.89917	1.0	D	0.97110	1.0	T	0.79184	-0.1908	9	0.66056	D	0.02	-13.3243	16.0667	0.80887	0.0:0.0:1.0:0.0	.	31	Q16655	MAR1_HUMAN	D	31	.	ENSP00000370880:G31D	G	+	2	0	MLANA	5887571	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.836000	0.62789	2.854000	0.98071	0.655000	0.94253	GGC	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051643.1		+	ENST00000381477.3	Missense_Mutation	SNP	9 : 5897571 - 5897571 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	531	5
MMAA	166785	broad.mit.edu	37	4	146563588	146563588	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:146563588G>A	ENST00000281317.5	+	3	1723	c.513G>A	c.(511-513)ggG>ggA	p.G171G	MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	171						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGAGAGAGGGCACAAATTAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	206	206			NA	NA	4		NA											NA				146563588		2203	4300	6503	SO:0001819	synonymous_variant			AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611	166785	166785			18871	protein-coding gene	gene with protein product		607481	methylmalonic aciduria (cobalamin deficiency) type A		NA	12438653	Standard		NM_172250	NA	Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.513G>A	4.37:g.146563588G>A		NA	B3KX40|Q495G7	37	CCDS3766.1																																																																																			MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000364668.2		+	ENST00000281317.5	Silent	SNP	4 : 146563588 - 146563588 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	976	9
MUC16	94025	broad.mit.edu	37	19	9010971	9010971	+	Splice_Site	SNP	T	T	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:9010971T>A	ENST00000397910.4	-	37	39150	c.38947A>T	c.(38947-38949)Act>Tct	p.T12983S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12985					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATACTCACTGCTGGTGGGG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													148	130	136			NA	NA	19		NA											NA				9010971		1918	4121	6039	SO:0001630	splice_region_variant			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	94025	94025		Mucins	15582	protein-coding gene	gene with protein product		606154			NA	11369781	Standard	NM_024690	XM_006722941	NA	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38947+1A>T	19.37:g.9010971T>A		NA	Q6ZQW5|Q96RK2	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.43	1.346733	0.24426	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.01871	4.59	1.54	0.0919	0.14470	.	.	.	.	.	T	0.03011	0.0089	M	0.79805	2.47	.	.	.	P	0.35481	0.504	B	0.27380	0.079	T	0.24297	-1.0164	7	.	.	.	.	3.369	0.07213	0.0:0.3569:0.0:0.6431	.	12983	B5ME49	.	S	12983;136	ENSP00000381008:T12983S	.	T	-	1	0	MUC16	8871971	0.025000	0.19082	0.409000	0.26459	0.052000	0.14988	-0.334000	0.07883	-0.017000	0.14103	0.254000	0.18369	ACT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402806.1	Missense_Mutation	-	ENST00000397910.4	Splice_Site	SNP	19 : 9010971 - 9010971 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	631	6
NARFL	64428	broad.mit.edu	37	16	780576	780576	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:780576G>A	ENST00000562862.1	-	0	1187				NARFL_ENST00000540986.1_Silent_p.Y322Y|NARFL_ENST00000251588.2_Silent_p.Y424Y|NARFL_ENST00000568545.1_Silent_p.Y322Y			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	NA					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGACCATGCCGTACAGTCTCT	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	49	49			NA	NA	16		NA											NA				780576		2198	4293	6491	SO:0001623	5_prime_UTR_variant			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245	64428	64428			14179	protein-coding gene	gene with protein product	iron-only hydrogenase-like protein 1	611118			NA	16956324	Standard	NM_022493	NM_022493	NA	Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000562862.1:c.-472C>T	16.37:g.780576G>A		NA	A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	37																																																																																				NARFL-007	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000421475.1		-	ENST00000562862.1	5'UTR	SNP	16 : 780576 - 780576 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	480	5
NEB	4703	broad.mit.edu	37	2	152586146	152586146	+	Missense_Mutation	SNP	C	C	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:152586146C>G	ENST00000604864.1	-	2	60	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q	NEB_ENST00000427231.2_Missense_Mutation_p.E21Q|NEB_ENST00000409198.1_Missense_Mutation_p.E21Q|NEB_ENST00000603639.1_Missense_Mutation_p.E21Q|NEB_ENST00000397345.3_Missense_Mutation_p.E21Q|NEB_ENST00000172853.10_Missense_Mutation_p.E21Q			P20929	NEBU_HUMAN	nebulin	21					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCACCTCTTCGTAAACCACT	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													120	117	118			NA	NA	2		NA											NA				152586146		1986	4158	6144	SO:0001583	missense			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091	4703	4703			7720	protein-coding gene	gene with protein product	nemaline myopathy type 2	161650		NEM2	NA	10051637, 9359044	Standard	NM_004543	NM_001164507	NA	Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000604864.1:c.61G>C	2.37:g.152586146C>G	ENSP00000474498:p.Glu21Gln	NA	Q15346|Q53QQ2|Q53TG8	37	CCDS54408.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.160849	0.38119	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.57	4.69	0.59074	.	0.189554	0.36815	N	0.002400	T	0.04907	0.0132	L	0.27053	0.805	0.80722	D	1	P	0.36199	0.543	B	0.28553	0.091	T	0.48210	-0.9055	10	0.18276	T	0.48	.	9.3738	0.38270	0.0:0.9057:0.0:0.0943	.	21	P20929	NEBU_HUMAN	Q	21	ENSP00000386259:E21Q;ENSP00000380505:E21Q;ENSP00000416578:E21Q;ENSP00000172853:E21Q	ENSP00000172853:E21Q	E	-	1	0	NEB	152294392	0.987000	0.35691	0.983000	0.44433	0.522000	0.34438	2.412000	0.44609	2.622000	0.88805	0.655000	0.94253	GAA	NEB-018	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000469063.1		-	ENST00000604864.1	Missense_Mutation	SNP	2 : 152586146 - 152586146 G PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	501	5
NPHP4	261734	broad.mit.edu	37	1	5923425	5923425	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:5923425G>A	ENST00000378156.4	-	30	4446	c.4181C>T	c.(4180-4182)gCg>gTg	p.A1394V	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1394					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACTAGGCGCAAACTGCAA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	177	173			NA	NA	1		NA											NA				5923425		2094	4205	6299	SO:0001583	missense			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697	261734	261734			19104	protein-coding gene	gene with protein product	nephroretinin, nephrocystin-4, POC10 centriolar protein homolog (Chlamydomonas)	607215			NA	11920287, 12205563	Standard		XR_244787	NA	Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4181C>T	1.37:g.5923425G>A	ENSP00000367398:p.Ala1394Val	NA		37	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.278111	0.40294	.	.	ENSG00000131697	ENST00000378156	D	0.88664	-2.41	5.27	-3.02	0.05446	.	0.440966	0.20854	N	0.084470	T	0.75693	0.3884	L	0.49350	1.555	0.09310	N	1	B	0.22276	0.067	B	0.15484	0.013	T	0.63994	-0.6511	10	0.02654	T	1	.	1.8	0.03069	0.265:0.2237:0.3959:0.1155	.	1394	O75161	NPHP4_HUMAN	V	1394	ENSP00000367398:A1394V	ENSP00000367398:A1394V	A	-	2	0	NPHP4	5846012	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	1.097000	0.30988	-1.060000	0.03189	-0.136000	0.14681	GCG	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000001715.2		-	ENST00000378156.4	Missense_Mutation	SNP	1 : 5923425 - 5923425 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	658	6
NWD1	284434	broad.mit.edu	37	19	16884050	16884050	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:16884050G>A	ENST00000524140.2	+	11	2942	c.2524G>A	c.(2524-2526)Gca>Aca	p.A842T	NWD1_ENST00000523826.1_Missense_Mutation_p.A636T|NWD1_ENST00000339803.6_Missense_Mutation_p.A707T|NWD1_ENST00000549814.1_Missense_Mutation_p.A842T|NWD1_ENST00000552788.1_Missense_Mutation_p.A842T|NWD1_ENST00000379808.3_Missense_Mutation_p.A842T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	842							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCAGTTGTGCGCACACCCTGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	56	57			NA	NA	19		NA											NA				16884050		2203	4299	6502	SO:0001583	missense			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039	284434	284434		WD repeat domain containing	27619	protein-coding gene	gene with protein product					NA		Standard	NM_001007525	NM_001007525	NA	Approved		uc002neu.4	Q149M9		ENST00000524140.2:c.2524G>A	19.37:g.16884050G>A	ENSP00000428579:p.Ala842Thr	NA	C9J021|Q68CT3	37	CCDS32945.2	.	.	.	.	.	.	.	.	.	.	-	2.846	-0.239371	0.05944	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57752	0.38;0.44;0.38;0.38;0.43;0.43	4.04	1.84	0.25277	.	0.486738	0.20217	U	0.096761	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	B;B;B	0.15719	0.008;0.006;0.014	B;B;B	0.08055	0.002;0.003;0.002	T	0.17992	-1.0351	10	0.15499	T	0.54	-4.5338	6.9503	0.24542	0.1883:0.5547:0.257:0.0	.	842;842;707	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	707;842;842;842;636;842;707	ENSP00000428579:A842T;ENSP00000447548:A842T;ENSP00000369136:A842T;ENSP00000428955:A636T;ENSP00000447224:A842T;ENSP00000340159:A707T	ENSP00000340159:A707T	A	+	1	0	NWD1	16745050	0.285000	0.24296	0.001000	0.08648	0.060000	0.15804	0.447000	0.21710	0.129000	0.18514	-2.490000	0.00194	GCA	NWD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379040.3		+	ENST00000524140.2	Missense_Mutation	SNP	19 : 16884050 - 16884050 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	310	5
PCDHA11	56138	broad.mit.edu	37	5	140250375	140250375	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:140250375G>A	ENST00000398640.2	+	1	1687	c.1687G>A	c.(1687-1689)Gca>Aca	p.A563T	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1			protocadherin alpha 11	NA										breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCGGCACTGCTGGC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	95	92			NA	NA	5		NA											NA				140250375		2203	4299	6502	SO:0001583	missense			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158	56138	56138		Cadherins / Protocadherins : Clustered	8665	other	complex locus constituent	KIAA0345-like 3, ortholog of mouse CNR7	606317		CNRS7	NA	10380929, 10662547	Standard	NM_018902	NM_018902	NA	Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1687G>A	5.37:g.140250375G>A	ENSP00000381636:p.Ala563Thr	NA		37	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.875088	0.02550	.	.	ENSG00000249158	ENST00000398640	T	0.37235	1.21	5.35	0.2	0.15181	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.14527	0.0351	N	0.05534	-0.03	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.003;0.005	T	0.29088	-1.0023	9	0.17369	T	0.5	.	2.9887	0.05977	0.2107:0.1129:0.546:0.1303	.	563;563	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	563	ENSP00000381636:A563T	ENSP00000381636:A563T	A	+	1	0	PCDHA11	140230559	0.000000	0.05858	0.005000	0.12908	0.061000	0.15899	-2.040000	0.01416	-0.313000	0.08728	-0.347000	0.07816	GCA	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372885.2		+	ENST00000398640.2	Missense_Mutation	SNP	5 : 140250375 - 140250375 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	909	6
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											180	120	140			NA	NA	21		NA											NA				47754463		2203	4300	6503	SO:0001819	synonymous_variant			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299	5116	5116			16068	protein-coding gene	gene with protein product	kendrin, Seckel syndrome 4	605925	pericentrin 2 (kendrin)	PCNT2	NA	8812505, 9455477	Standard	NM_006031	NM_006031	NA	Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.420A>G	21.37:g.47754463A>G		NA	O43152|Q7Z7C9	37	CCDS33592.1																																																																																			PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207336.1		+	ENST00000359568.5	Silent	SNP	21 : 47754463 - 47754463 G PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	291	5
PLXNC1	10154	broad.mit.edu	37	12	94676176	94676176	+	Splice_Site	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:94676176A>G	ENST00000545312.1	+	4	671	c.95A>G	c.(94-96)gAg>gGg	p.E32G	PLXNC1_ENST00000547057.1_Splice_Site_p.E340G|RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000258526.4_Splice_Site_p.E1293G			O60486	PLXC1_HUMAN	plexin C1	1293					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCCACTATGAGGTAAGAGCA	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	96	101			NA	NA	12		NA											NA				94676176		2203	4300	6503	SO:0001630	splice_region_variant			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040	10154	10154		CD molecules, Plexins	9106	protein-coding gene	gene with protein product		604259			NA		Standard		NR_037687	NA	Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000545312.1:c.96+1A>G	12.37:g.94676176A>G		NA	Q59H25	37		.	.	.	.	.	.	.	.	.	.	A	16.05	3.014070	0.54468	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11712	2.75;2.75;2.75	5.92	5.92	0.95590	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.150804	0.64402	D	0.000019	T	0.11367	0.0277	N	0.01352	-0.895	0.38650	D	0.951828	B;D	0.76494	0.117;0.999	B;D	0.69479	0.037;0.964	T	0.56226	-0.8014	10	0.72032	D	0.01	.	14.9345	0.70944	1.0:0.0:0.0:0.0	.	340;1293	B4DHQ7;O60486	.;PLXC1_HUMAN	G	1293;340;32	ENSP00000258526:E1293G;ENSP00000446720:E340G;ENSP00000439225:E32G	ENSP00000258526:E1293G	E	+	2	0	PLXNC1	93200307	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.329000	0.59260	2.270000	0.75569	0.459000	0.35465	GAG	PLXNC1-004	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000408129.2	Missense_Mutation	+	ENST00000545312.1	Splice_Site	SNP	12 : 94676176 - 94676176 G PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	257	4
PNPLA6	10908	broad.mit.edu	37	19	7615191	7615191	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:7615191C>T	ENST00000221249.6	+	18	2136	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R543C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R569C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R617C|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R608C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	608					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGGATCATGCGCGCACAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	19		NA											NA				7615191		2199	4288	6487	SO:0001583	missense			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11					10908	10908		Patatin-like phospholipase domain containing	16268	protein-coding gene	gene with protein product	neuropathy target esterase	603197			NA	9576844, 16799181, 19029121	Standard	NM_006702	NM_006702	NA	Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1705C>T	19.37:g.7615191C>T	ENSP00000221249:p.Arg569Cys	NA	A6NGQ0|O60859|Q86W58|Q9UG58	37	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240367	0.79912	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.1	5.1	0.69264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.988	D	0.97186	0.9854	10	0.87932	D	0	.	11.164	0.48533	0.1838:0.8162:0.0:0.0	.	608;543;608;569	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	C	569;543;617;569	ENSP00000221249:R569C;ENSP00000443323:R543C;ENSP00000407509:R617C;ENSP00000394348:R569C	ENSP00000221249:R569C	R	+	1	0	PNPLA6	7521191	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.949000	0.49074	2.383000	0.81215	0.591000	0.81541	CGC	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000459275.1		+	ENST00000221249.6	Missense_Mutation	SNP	19 : 7615191 - 7615191 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	641	6
PPM1N	147699	broad.mit.edu	37	19	45996481	45996481	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:45996481C>T	ENST00000401705.1	+	1	203				RTN2_ENST00000245923.4_Missense_Mutation_p.A324T|RTN2_ENST00000590526.1_Missense_Mutation_p.A50T|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	NA							magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						GGGGATTTTGCCCACTTCAGT	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	83	80			NA	NA	19		NA											NA				45996481		2203	4300	6503	SO:0001627	intron_variant			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889	147699	147699		Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent	26845	protein-coding gene	gene with protein product					NA		Standard	NM_001080401	NM_001080401	NA	Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000401705.1:c.-16+4244C>T	19.37:g.45996481C>T		NA	Q6P662	37		.	.	.	.	.	.	.	.	.	.	C	18.75	3.690175	0.68271	.	.	ENSG00000125744	ENST00000245923	T	0.45276	0.9	4.42	2.25	0.28309	.	0.801566	0.10171	U	0.707138	T	0.21801	0.0525	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.07309	-1.0779	10	0.42905	T	0.14	-0.6328	6.0569	0.19816	0.0:0.7069:0.1911:0.1019	.	324	O75298	RTN2_HUMAN	T	324	ENSP00000245923:A324T	ENSP00000245923:A324T	A	-	1	0	RTN2	50688321	0.985000	0.35326	0.986000	0.45419	0.932000	0.56968	1.609000	0.36858	0.779000	0.33543	0.467000	0.42956	GCA	PPM1N-008	KNOWN	alternative_5_UTR|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000326520.1		+	ENST00000401705.1	Intron	SNP	19 : 45996481 - 45996481 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	977	8
PPP1R12B	4660	broad.mit.edu	37	1	202394748	202394748	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:202394748C>T	ENST00000608999.1	+	4	749	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	NA					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	p.A199V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTGCAGGATGCCCGCCAGTGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											190	207	201			NA	NA	1		NA											NA				202394748		2203	4300	6503	SO:0001583	missense			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157	4660	4660		Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits, Ankyrin repeat domain containing	7619	protein-coding gene	gene with protein product	myosin phosphatase regulatory subunit, myosin phosphatase, target subunit 2	603768	protein phosphatase 1, regulatory (inhibitor) subunit 12B	MYPT2	NA	9570949	Standard	NM_032105	NM_002481	NA	Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.596C>T	1.37:g.202394748C>T	ENSP00000476755:p.Ala199Val	NA	A8MYF5|B7ZMN6|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	37	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069581	0.93950	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.094539	0.46442	D	0.000281	T	0.68109	0.2965	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	0.964;0.985;1.0;1.0	P;B;D;D	0.67103	0.478;0.403;0.944;0.949	T	0.61633	-0.7023	10	0.22706	T	0.39	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	199;199;199;199	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	V	199	ENSP00000384496:A199V;ENSP00000337897:A199V;ENSP00000417159:A199V;ENSP00000349206:A199V	ENSP00000337897:A199V	A	+	2	0	PPP1R12B	200661371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.798000	0.85924	2.586000	0.87340	0.460000	0.39030	GCC	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000099166.3		+	ENST00000608999.1	Missense_Mutation	SNP	1 : 202394748 - 202394748 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1110	7
PRDM5	11107	broad.mit.edu	37	4	121843684	121843684	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:121843684C>T	ENST00000264808.3	-	1	320	c.80G>A	c.(79-81)cGc>cAc	p.R27H	PRDM5_ENST00000515109.1_Missense_Mutation_p.R27H|PRDM5_ENST00000428209.2_Missense_Mutation_p.R27H|PRDM5_ENST00000394435.2_Missense_Mutation_p.R27H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	27	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCGCACTCTGCGGGCCGTGTA	0.746		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													19	19	19			NA	NA	4		NA											NA				121843684		2201	4296	6497	SO:0001583	missense			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738	11107	11107		Zinc fingers, C2H2-type	9349	protein-coding gene	gene with protein product		614161			NA		Standard		XM_005262706	NA	Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.80G>A	4.37:g.121843684C>T	ENSP00000264808:p.Arg27His	NA	Q0VAJ0|Q6NXQ7	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086245	0.76642	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	3.62	1.83	0.25207	SET domain (2);	0.000000	0.85682	U	0.000000	D	0.83101	0.5181	M	0.62266	1.93	0.47341	D	0.999395	B;D;D;B	0.89917	0.004;0.988;1.0;0.002	B;P;D;B	0.83275	0.001;0.656;0.996;0.001	T	0.78710	-0.2098	10	0.39692	T	0.17	-0.2603	8.8766	0.35350	0.0:0.8071:0.0:0.1929	.	27;27;27;27	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	H	27	ENSP00000264808:R27H;ENSP00000422309:R27H;ENSP00000404832:R27H;ENSP00000377955:R27H	ENSP00000264808:R27H	R	-	2	0	PRDM5	122063134	1.000000	0.71417	0.488000	0.27440	0.780000	0.44128	4.646000	0.61411	0.065000	0.16485	0.298000	0.19748	CGC	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256528.2		-	ENST00000264808.3	Missense_Mutation	SNP	4 : 121843684 - 121843684 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	132	4
PRICKLE2	166336	broad.mit.edu	37	3	64133348	64133348	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:64133348C>T	ENST00000295902.6	-	7	1403	c.818G>A	c.(817-819)gGc>gAc	p.G273D	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G329D	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	273	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCAGTGTTGGCCATCATAGGT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	69	68			NA	NA	3		NA											NA				64133348		2203	4300	6503	SO:0001583	missense			AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637	166336	166336			20340	protein-coding gene	gene with protein product		608501	prickle-like 2 (Drosophila)		NA	12525887	Standard	NM_198859	NM_198859	NA	Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.818G>A	3.37:g.64133348C>T	ENSP00000295902:p.Gly273Asp	NA	Q0VF44	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147467	0.57151	.	.	ENSG00000163637	ENST00000295902	D	0.87256	-2.23	6.08	6.08	0.98989	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91523	0.7323	L	0.56396	1.775	0.80722	D	1	P	0.40638	0.725	P	0.54706	0.759	D	0.88672	0.3196	10	0.36615	T	0.2	-50.4567	20.6634	0.99662	0.0:1.0:0.0:0.0	.	273	Q7Z3G6	PRIC2_HUMAN	D	273	ENSP00000295902:G273D	ENSP00000295902:G273D	G	-	2	0	PRICKLE2	64108388	1.000000	0.71417	0.992000	0.48379	0.008000	0.06430	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GGC	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352219.1		-	ENST00000295902.6	Missense_Mutation	SNP	3 : 64133348 - 64133348 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	487	5
PSG9	5678	broad.mit.edu	37	19	43763169	43763169	+	Silent	SNP	G	G	A	rs2355449	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:43763169G>A	ENST00000418820.2	-	3	647	c.549C>T	c.(547-549)aaC>aaT	p.N183N	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	183	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		2,4298		0,2,2148	220	231	227		828	-2.8	0	19	dbSNP_100	227	2,8562		0,2,4280	no	coding-synonymous	PSG9	NM_002784.3		0,4,6428	AA,AG,GG	NA	0.0234,0.0465,0.0311		276/427	43763169	4,12860	2150	4282	6432	SO:0001819	synonymous_variant			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668	5678	5678		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9526	protein-coding gene	gene with protein product		176398		PSG11	NA	7806221	Standard	NM_002784	XM_005259076	NA	Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000418820.2:c.549C>T	19.37:g.43763169G>A		NA	B2R869|Q15236|Q15237|Q8WW78|Q9UQ73	37																																																																																				PSG9-011	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000463916.1		-	ENST00000418820.2	Silent	SNP	19 : 43763169 - 43763169 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1437	8
PTPN21	11099	broad.mit.edu	37	14	88971661	88971661	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:88971661G>A	ENST00000556564.1	-	5	787	c.503C>T	c.(502-504)gCc>gTc	p.A168V	PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.A168V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	168	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGAAACAAGGCAAATTTCTG	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	106	103			NA	NA	14		NA											NA				88971661		2203	4299	6502	SO:0001583	missense			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778	11099	11099		Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor	9651	protein-coding gene	gene with protein product		603271			NA	7519780	Standard		NM_007039	NA	Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.503C>T	14.37:g.88971661G>A	ENSP00000452414:p.Ala168Val	NA		37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	7.047	0.563725	0.13498	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.79033	-1.23;-1.23;-1.23	5.18	5.18	0.71444	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.141914	0.46442	D	0.000287	T	0.51466	0.1676	N	0.01505	-0.83	0.44603	D	0.997578	B;B	0.32302	0.0;0.363	B;B	0.31812	0.001;0.136	T	0.61118	-0.7127	10	0.02654	T	1	.	19.0658	0.93110	0.0:0.0:1.0:0.0	.	168;168	G3V3S6;Q16825	.;PTN21_HUMAN	V	168	ENSP00000330276:A168V;ENSP00000452414:A168V;ENSP00000451401:A168V	ENSP00000330276:A168V	A	-	2	0	PTPN21	88041414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.027000	0.57239	2.567000	0.86603	0.655000	0.94253	GCC	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000410303.1		-	ENST00000556564.1	Missense_Mutation	SNP	14 : 88971661 - 88971661 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	518	5
PTPRB	5787	broad.mit.edu	37	12	70946613	70946613	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:70946613G>A	ENST00000550358.1	-	20	5092	c.5067C>T	c.(5065-5067)tgC>tgT	p.C1689C	PTPRB_ENST00000334414.6_Silent_p.C1777C|PTPRB_ENST00000538708.1_Silent_p.C1469C|PTPRB_ENST00000261266.5_Silent_p.C1559C|PTPRB_ENST00000550857.1_Silent_p.C1469C|PTPRB_ENST00000451516.2_Silent_p.C1469C			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1559					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGTGGGATCGCATTTTCCAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	118	120			NA	NA	12		NA											NA				70946613		1927	4149	6076	SO:0001819	synonymous_variant			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11					NA	5787		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Fibronectin type III domain containing	9665	protein-coding gene	gene with protein product		176882		PTPB	NA	2169617	Standard		NM_001109754	NA	Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.5067C>T	12.37:g.70946613G>A		NA	B7ZKT0|C9JX87|Q14D85|Q3MIV7	37																																																																																				PTPRB-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404436.1		-	ENST00000550358.1	Silent	SNP	12 : 70946613 - 70946613 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	291	6
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					intracellular transport		binding	p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				6	Substitution - Missense(6)	endometrium(6)											164	133	142			NA	NA	2		NA											NA				107049681		692	1590	2282	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107049681 - 107049681 C PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1535	9
RPL6	6128	broad.mit.edu	37	12	112843029	112843029	+	Silent	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:112843029T>C	ENST00000424576.2	-	7	1051	c.866A>G	c.(865-867)tAa>tGa	p.*289*	RPL6_ENST00000202773.9_Silent_p.*289*	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	0					endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TTAAGACATTTAGAACACCAA	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													23	26	25			NA	NA	12		NA											NA				112843029		2004	3730	5734	SO:0001819	synonymous_variant			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009	6128	6128		L ribosomal proteins	10362	protein-coding gene	gene with protein product		603703		TXREB1	NA	8479925, 8457378	Standard		XM_005253920	NA	Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.866A>G	12.37:g.112843029T>C		NA	Q2M3Q3|Q8WW97	37	CCDS9162.1																																																																																			RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000405422.1		-	ENST00000424576.2	Silent	SNP	12 : 112843029 - 112843029 C PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	213	6
RYR1	6261	broad.mit.edu	37	19	39009888	39009888	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39009888G>A	ENST00000355481.4	+	67	10184	c.10053G>A	c.(10051-10053)ccG>ccA	p.P3351P	RYR1_ENST00000360985.3_Silent_p.P3351P|RYR1_ENST00000359596.3_Silent_p.P3351P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3351					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGCACGGCCGGAGCTCCTGC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	60	60			NA	NA	19		NA											NA				39009888		2203	4300	6503	SO:0001819	synonymous_variant			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218	6261	6261		Ion channels / Ryanodine receptors	10483	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 137	180901	central core disease of muscle	MHS, MHS1, CCO	NA	1862346, 16621918	Standard		NM_000540	NA	Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000355481.4:c.10053G>A	19.37:g.39009888G>A		NA	Q16314|Q16368|Q9NPK1|Q9P1U4	37	CCDS42563.1																																																																																			RYR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461017.2		+	ENST00000355481.4	Silent	SNP	19 : 39009888 - 39009888 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	523	5
SLC35G5	83650	broad.mit.edu	37	8	11189433	11189433	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:11189433C>T	ENST00000382435.4	+	1	1037	c.818C>T	c.(817-819)gCg>gTg	p.A273V		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	273	DUF6 2.					integral to membrane					NA						GTGGGCTATGCGGTCACCAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	110	110			NA	NA	8		NA											NA				11189433		2203	4298	6501	SO:0001583	missense			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710	83650	83650		Solute carriers	15546	protein-coding gene	gene with protein product		615199	acyl-malonyl condensing enzyme 1-like 2	AMAC, AMAC1L2	NA		Standard	NM_054028	NM_054028	NA	Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.818C>T	8.37:g.11189433C>T	ENSP00000371872:p.Ala273Val	NA	A2RRL6	37	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372443	0.11409	.	.	ENSG00000177710	ENST00000382435	T	0.77098	-1.07	.	.	.	.	0.000000	0.44097	D	0.000481	T	0.59088	0.2168	L	0.32530	0.975	0.40203	D	0.977531	B	0.14012	0.009	B	0.14578	0.011	T	0.06625	-1.0816	9	0.54805	T	0.06	-6.6496	4.5334	0.12017	0.0:0.668:0.0:0.332	.	273	Q96KT7	S35G5_HUMAN	V	273	ENSP00000371872:A273V	ENSP00000371872:A273V	A	+	2	0	SLC35G5	11226843	0.924000	0.31332	0.074000	0.20217	0.074000	0.17049	1.709000	0.37909	-1.791000	0.01261	-1.780000	0.00649	GCG	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207313.2		+	ENST00000382435.4	Missense_Mutation	SNP	8 : 11189433 - 11189433 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	799	6
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				11	Substitution - coding silent(11)	endometrium(10)|prostate(1)											253	273	266			NA	NA	7		NA											NA				99913460		2091	3956	6047	SO:0001819	synonymous_variant			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300	441272	441272		Speedy homologs	35462	protein-coding gene	gene with protein product			speedy homolog E3 (Xenopus laevis)		NA		Standard	NM_001004351	NM_001004351	NA	Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G		NA	Q495Y9|Q6PHC4	37	CCDS47658.2																																																																																			SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340224.2		+	ENST00000332397.6	Silent	SNP	7 : 99913460 - 99913460 G PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1240	9
SUPT6H	6830	broad.mit.edu	37	17	27027990	27027990	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:27027990C>T	ENST00000314616.6	+	36	5121	c.4838C>T	c.(4837-4839)gCc>gTc	p.A1613V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1613V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1613					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGCCAGTGGCCACACCACTA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													211	212	212			NA	NA	17		NA											NA				27027990		2203	4300	6503	SO:0001583	missense			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111	6830	6830		SH2 domain containing	11470	protein-coding gene	gene with protein product		601333	suppressor of Ty (S.cerevisiae) 6 homolog		NA	8786132	Standard	NM_003170	XM_005258026	NA	Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4838C>T	17.37:g.27027990C>T	ENSP00000319104:p.Ala1613Val	NA	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654734	0.67472	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.44542	1.39	0.80722	D	1	P	0.48764	0.915	B	0.38500	0.275	T	0.40997	-0.9533	9	0.25751	T	0.34	-13.43	18.8074	0.92043	0.0:1.0:0.0:0.0	.	1613	Q7KZ85	SPT6H_HUMAN	V	1613	.	ENSP00000319104:A1613V	A	+	2	0	SUPT6H	24052117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.973000	0.76116	2.465000	0.83290	0.650000	0.86243	GCC	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000446422.2		+	ENST00000314616.6	Missense_Mutation	SNP	17 : 27027990 - 27027990 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1170	7
TOMM40L	84134	broad.mit.edu	37	1	161198845	161198845	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:161198845G>A	ENST00000367988.3	+	10	1156	c.887G>A	c.(886-888)cGc>cAc	p.R296H	TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H|TOMM40L_ENST00000474486.1_3'UTR	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	296	Required for mitochondrial targeting (By similarity).				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AATCACTGGCGCAACAGATTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	0,4406		0,0,2203	140	122	128		887	5.2	1	1		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOMM40L	NM_032174.4	29	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	296/309	161198845	1,13005	2203	4300	6503	SO:0001583	missense				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882	84134	84134			25756	protein-coding gene	gene with protein product			translocase of outer mitochondrial membrane 40 homolog-like (yeast)		NA		Standard	NM_032174	NM_032174	NA	Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.887G>A	1.37:g.161198845G>A	ENSP00000356967:p.Arg296His	NA	D3DVG9	37	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382008	0.61845	0.0	1.16E-4	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.42900	0.96;0.96;0.96	5.25	5.25	0.73442	.	0.301075	0.30920	N	0.008603	T	0.24470	0.0593	N	0.14661	0.345	0.32193	N	0.5787640000000001	D;D;D	0.54207	0.965;0.965;0.965	P;B;P	0.52881	0.712;0.285;0.712	T	0.12192	-1.0557	9	0.56958	D	0.05	-18.8218	9.9862	0.41843	0.0898:0.0:0.9102:0.0	.	262;178;296	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	H	296;262;198;296	ENSP00000356967:R296H;ENSP00000443233:R262H;ENSP00000356966:R296H	ENSP00000356966:R296H	R	+	2	0	TOMM40L	159465469	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.874000	0.48483	2.885000	0.99019	0.655000	0.94253	CGC	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083029.1		+	ENST00000367988.3	Missense_Mutation	SNP	1 : 161198845 - 161198845 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	561	6
TXNDC2	84203	broad.mit.edu	37	18	9887625	9887625	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:9887625G>A	ENST00000357775.5	+	2	1183	c.948G>A	c.(946-948)caG>caA	p.Q316Q	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000306084.6_Silent_p.Q383Q	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	NA	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGCCATCCAGCCCAAGGAGG	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	122	126			NA	NA	18		NA											NA				9887625		2203	4300	6503	SO:0001819	synonymous_variant			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454	NA	84203			16470	protein-coding gene	gene with protein product	sperm-specific thioredoxin 1				NA	11230166, 11399755	Standard		NM_001098529	NA	Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000357775.5:c.948G>A	18.37:g.9887625G>A		NA	Q8N7U4|Q96RX3|Q9H0L8	37	CCDS11846.1																																																																																			TXNDC2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254488.3		+	ENST00000357775.5	Silent	SNP	18 : 9887625 - 9887625 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	578	6
UIMC1	51720	broad.mit.edu	37	5	176370364	176370364	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:176370364G>A	ENST00000377227.4	-	10	1701	c.1569C>T	c.(1567-1569)taC>taT	p.Y523Y	UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000511320.1_Silent_p.Y523Y|UIMC1_ENST00000506128.1_Silent_p.Y357Y|UIMC1_ENST00000377219.2_Silent_p.Y523Y			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	523	Zinc-finger-like region.				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCATTGCAGTACATGGCAT	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	246	251			NA	NA	5		NA											NA				176370364		2203	4300	6503	SO:0001819	synonymous_variant			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206	51720	51720			30298	protein-coding gene	gene with protein product	receptor associated protein 80	609433			NA	12080054	Standard	NM_016290	NM_001199297	NA	Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1569C>T	5.37:g.176370364G>A		NA	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	37	CCDS4408.1																																																																																			UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253422.1		-	ENST00000377227.4	Silent	SNP	5 : 176370364 - 176370364 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	955	6
UNC5B	219699	broad.mit.edu	37	10	73050693	73050693	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:73050693C>T	ENST00000335350.6	+	9	1537	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A363V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	374					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.A374V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCAGGGGATGCGGCGCTGTAT	0.667		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)											126	131	129			NA	NA	10		NA											NA				73050693		2203	4300	6503	SO:0001583	missense			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731	219699	219699		Immunoglobulin superfamily / I-set domain containing	12568	protein-coding gene	gene with protein product		607870	unc5 (C.elegans homolog) b		NA		Standard	NM_170744	NM_170744	NA	Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1121C>T	10.37:g.73050693C>T	ENSP00000334329:p.Ala374Val	NA	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	37	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	1.247	-0.619747	0.03636	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.38077	1.18;1.16	5.26	4.13	0.48395	.	0.192141	0.45126	N	0.000398	T	0.06096	0.0158	N	0.00044	-2.455	0.23754	N	0.996936	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.36065	-0.9763	10	0.02654	T	1	-9.8173	10.3055	0.43678	0.0:0.0795:0.0:0.9205	.	363;374	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	374;363	ENSP00000334329:A374V;ENSP00000362288:A363V	ENSP00000334329:A374V	A	+	2	0	UNC5B	72720699	1.000000	0.71417	0.959000	0.39883	0.190000	0.23558	5.063000	0.64332	0.856000	0.35383	-0.471000	0.05019	GCG	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000048541.1		+	ENST00000335350.6	Missense_Mutation	SNP	10 : 73050693 - 73050693 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	1109	7
VSX1	30813	broad.mit.edu	37	20	25056996	25056996	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:25056996C>T	ENST00000429762.3	-	4	843				VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000376709.4_Silent_p.R333R	NM_001256272.1	NP_001243201.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	NA					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TGGTCTCCTGCCGGGCAGAGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	64	63			NA	NA	20		NA											NA				25056996		2203	4300	6503	SO:0001627	intron_variant			AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987	30813	30813		Homeoboxes / PRD class	12723	protein-coding gene	gene with protein product		605020	posterior polymorphous corneal dystrophy, visual system homeobox 1 homolog, CHX10-like (zebrafish)	PPCD	NA	10673340	Standard		NM_001256272	NA	Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000429762.3:c.808+1324G>A	20.37:g.25056996C>T		NA	B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	37	CCDS58767.1																																																																																			VSX1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334157.2		-	ENST00000429762.3	Intron	SNP	20 : 25056996 - 25056996 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	363	5
WDR60	55112	broad.mit.edu	37	7	158672580	158672580	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:158672580G>A	ENST00000407559.3	+	5	937	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	260										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAGAAAAGCGACACAAAGAA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	78	77			NA	NA	7		NA											NA				158672580		1867	4093	5960	SO:0001583	missense				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870	55112	55112		WD repeat domain containing	21862	protein-coding gene	gene with protein product		615462			NA	23910462	Standard	NM_018051	NM_018051	NA	Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.779G>A	7.37:g.158672580G>A	ENSP00000384290:p.Arg260Gln	NA	Q9NW58	37	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413667	0.62511	.	.	ENSG00000126870	ENST00000407559	T	0.35973	1.28	4.73	3.83	0.44106	.	0.071972	0.53938	D	0.000043	T	0.18130	0.0435	N	0.20986	0.625	0.09310	N	1	P	0.35155	0.487	B	0.18871	0.023	T	0.12863	-1.0531	10	0.37606	T	0.19	-9.5898	8.1695	0.31247	0.1082:0.0:0.8918:0.0	.	260	Q8WVS4	WDR60_HUMAN	Q	260	ENSP00000384290:R260Q	ENSP00000384290:R260Q	R	+	2	0	WDR60	158365341	0.021000	0.18746	0.008000	0.14137	0.002000	0.02628	2.064000	0.41432	2.339000	0.79563	0.655000	0.94253	CGA	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000322668.1		+	ENST00000407559.3	Missense_Mutation	SNP	7 : 158672580 - 158672580 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	225	5
WDR83OS	51398	broad.mit.edu	37	19	12779957	12779957	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:12779957G>A	ENST00000596731.1	-	2	2093	c.141C>T	c.(139-141)tgC>tgT	p.C47C	WDR83_ENST00000418543.3_Intron|CTD-2192J16.24_ENST00000597961.1_Silent_p.C45C|WDR83OS_ENST00000222190.5_Silent_p.C47C	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN	WD repeat domain 83 opposite strand	47						integral to membrane					NA						GCATGAGGCCGCACATGCTGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	77	78			NA	NA	19		NA											NA				12779957		2203	4300	6503	SO:0001819	synonymous_variant			AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583	51398	51398			30203	protein-coding gene	gene with protein product			chromosome 19 open reading frame 56	C19orf56	NA	10810093	Standard	NM_016145	NM_016145	NA	Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.141C>T	19.37:g.12779957G>A		NA	B2R4T8|Q9BVI3	37	CCDS12274.1																																																																																			WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462702.1		-	ENST00000596731.1	Silent	SNP	19 : 12779957 - 12779957 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	404	6
WRAP73	49856	broad.mit.edu	37	1	3551634	3551634	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:3551634C>T	ENST00000378322.3	-	8	801	c.743G>A	c.(742-744)cGc>cAc	p.R248H	WRAP73_ENST00000270708.7_Missense_Mutation_p.R248H			Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	248						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ATTAAGGATGCGCACCTGAGG	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													157	152	153			NA	NA	1		NA											NA				3551634		2203	4300	6503	SO:0001583	missense			AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213	49856	49856		WD repeat domain containing	12759	protein-coding gene	gene with protein product		606040	WD repeat domain 8	WDR8	NA		Standard		NM_017818	NA	Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000378322.3:c.743G>A	1.37:g.3551634C>T	ENSP00000367573:p.Arg248His	NA	Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	37		.	.	.	.	.	.	.	.	.	.	C	29.5	5.007781	0.93287	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.67523	-0.27;-0.27;3.36	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84871	0.0825	10	0.66056	D	0.02	-50.4148	18.3753	0.90433	0.0:1.0:0.0:0.0	.	248	Q9P2S5	WRP73_HUMAN	H	248;248;203	ENSP00000270708:R248H;ENSP00000367573:R248H;ENSP00000416192:R203H	ENSP00000270708:R248H	R	-	2	0	WRAP73	3541494	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.539000	0.73856	2.652000	0.90054	0.655000	0.94253	CGC	WRAP73-002	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000001471.1		-	ENST00000378322.3	Missense_Mutation	SNP	1 : 3551634 - 3551634 T PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	695	8
ZNF343	79175	broad.mit.edu	37	20	2464182	2464182	+	Silent	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:2464182A>G	ENST00000278772.4	-	6	1912	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S475S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527		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(1)|kidney(1)											113	95	101			NA	NA	20		NA											NA				2464182		2203	4300	6503	SO:0001819	synonymous_variant			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876	79175	79175		Zinc fingers, C2H2-type, -	16017	protein-coding gene	gene with protein product					NA		Standard	NM_024325	NM_001282498	NA	Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1425T>C	20.37:g.2464182A>G		NA	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	37	CCDS13028.1																																																																																			ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077617.1		-	ENST00000278772.4	Silent	SNP	20 : 2464182 - 2464182 G PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	346	5
ZNF611	81856	broad.mit.edu	37	19	53208665	53208665	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:53208665G>A	ENST00000602162.1	-	2	1496	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	ZNF611_ENST00000319783.1_Missense_Mutation_p.A548V|ZNF611_ENST00000595798.1_Missense_Mutation_p.A479V|ZNF611_ENST00000540744.1_Missense_Mutation_p.A548V|ZNF611_ENST00000453741.2_Missense_Mutation_p.A479V|ZNF611_ENST00000543227.1_Missense_Mutation_p.A548V			Q8N823	ZN611_HUMAN	zinc finger protein 611	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGAATGACACGCAAAAGCCTT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	181	181			NA	NA	19		NA											NA				53208665		2203	4298	6501	SO:0001583	missense			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020	81856	81856		Zinc fingers, C2H2-type, -	28766	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_030972	NM_030972	NA	Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000602162.1:c.1436C>T	19.37:g.53208665G>A	ENSP00000472648:p.Ala479Val	NA	B3KRD5|Q69YG9	37	CCDS54312.1	.	.	.	.	.	.	.	.	.	.	.	7.266	0.606196	0.14002	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.17854	2.25;2.25;3.69;2.25	1.11	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	L	0.45744	1.44	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.31336	-0.9947	9	0.40728	T	0.16	.	4.28	0.10827	0.0:0.4486:0.3263:0.2251	.	548	Q8N823	ZN611_HUMAN	V	548;548;479;548	ENSP00000437616:A548V;ENSP00000439211:A548V;ENSP00000443505:A479V;ENSP00000322427:A548V	ENSP00000322427:A548V	A	-	2	0	ZNF611	57900477	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-9.157000	0.00013	-0.450000	0.07107	0.306000	0.20318	GCG	ZNF611-003	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000462990.1		-	ENST00000602162.1	Missense_Mutation	SNP	19 : 53208665 - 53208665 A PAAD-TCGA-US-A77J-Tumor-SM-4WPAM	947	6
