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
ANKRD27	84079	broad.mit.edu	37	19	33095176	33095176	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:33095176G>C	ENST00000306065.4	-	25	2806	c.2648C>G	c.(2647-2649)gCt>gGt	p.A883G		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	883					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TACCTGTTCAGCACAGTCTAC	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	46	48			NA	NA	19		NA											NA				33095176		2203	4300	6503	SO:0001583	missense			AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186	84079	84079		Ankyrin repeat domain containing	25310	protein-coding gene	gene with protein product	Vps9 domain and ankyrin-repeat-containing protein				NA	11230166, 16525121	Standard	NM_032139	NM_032139	NA	Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2648C>G	19.37:g.33095176G>C	ENSP00000304292:p.Ala883Gly	NA	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	37	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564972	0.65651	.	.	ENSG00000105186	ENST00000306065	D	0.89270	-2.49	5.54	5.54	0.83059	Ankyrin repeat-containing domain (3);	0.000000	0.56097	D	0.000022	D	0.92763	0.7699	M	0.68952	2.095	0.80722	D	1	D	0.57899	0.981	P	0.56788	0.806	D	0.93103	0.6510	10	0.66056	D	0.02	-20.0708	19.0615	0.93095	0.0:0.0:1.0:0.0	.	883	Q96NW4	ANR27_HUMAN	G	883	ENSP00000304292:A883G	ENSP00000304292:A883G	A	-	2	0	ANKRD27	37787016	1.000000	0.71417	0.939000	0.37840	0.066000	0.16364	6.528000	0.73807	2.590000	0.87494	0.655000	0.94253	GCT	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450329.1		-	ENST00000306065.4	Missense_Mutation	SNP	19 : 33095176 - 33095176 C PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	283	15
C8orf47	0	broad.mit.edu	37	8	99101495	99101495	+	Silent	SNP	C	C	T	rs151309291		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:99101495C>T	ENST00000318528.3	+	2	609	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN		84										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			AGAACAGCCCCTGGCCAAGGA	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	81	80			NA	NA	8		NA											NA				99101495		2203	4300	6503	SO:0001819	synonymous_variant											NA	NA			NA							NA					NA						ENST00000318528.3:c.250C>T	8.37:g.99101495C>T		NA	Q8N1L8	37	CCDS34929.1																																																																																			C8orf47-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380465.1		+	ENST00000318528.3	Silent	SNP	8 : 99101495 - 99101495 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	597	103
CDC20	991	broad.mit.edu	37	1	43826618	43826618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:43826618C>T	ENST00000372462.1	+	7	1266	c.1063C>T	c.(1063-1065)Caa>Taa	p.Q355*	CDC20_ENST00000310955.6_Nonsense_Mutation_p.Q355*			Q12834	CDC20_HUMAN	cell division cycle 20	355					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CACCCAGCATCAAGGGGCTGT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(137;1154 1759 10362 10401 46925)							NA				0													66	62	63			NA	NA	1		NA											NA				43826618		2203	4300	6503	SO:0001587	stop_gained			U05340	CCDS484.1	1p34.1	2013-01-17	2013-01-17		ENSG00000117399	ENSG00000117399	991	991		WD repeat domain containing	1723	protein-coding gene	gene with protein product		603618	CDC20 (cell division cycle 20, S. cerevisiae, homolog), CDC20 cell division cycle 20 homolog (S. cerevisiae), cell division cycle 20 homolog (S. cerevisiae)		NA	7513050, 9353311	Standard	NM_001255	NM_001255	NA	Approved	p55CDC, CDC20A	uc001cix.3	Q12834	OTTHUMG00000007420	ENST00000372462.1:c.1063C>T	1.37:g.43826618C>T	ENSP00000361540:p.Gln355*	NA	B2R6Z6|D3DPJ1|Q5JUY4|Q9BW56|Q9UQI9	37	CCDS484.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099148	0.94197	.	.	ENSG00000117399	ENST00000437896;ENST00000310955;ENST00000372462	.	.	.	5.84	3.88	0.44766	.	0.095398	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-5.345	14.0065	0.64468	0.1191:0.7657:0.1152:0.0	.	.	.	.	X	331;355;355	.	ENSP00000308450:Q355X	Q	+	1	0	CDC20	43599205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.142000	0.50601	2.768000	0.95171	0.561000	0.74099	CAA	CDC20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019488.1		+	ENST00000372462.1	Nonsense_Mutation	SNP	1 : 43826618 - 43826618 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	357	79
CDCA8	55143	broad.mit.edu	37	1	38171170	38171170	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:38171170C>T	ENST00000373055.1	+	8	915	c.642C>T	c.(640-642)atC>atT	p.I214I	CDCA8_ENST00000327331.2_Silent_p.I214I	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	214					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTACAACATCTCAGGGAATG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													98	92	94			NA	NA	1		NA											NA				38171170		2203	4300	6503	SO:0001819	synonymous_variant			BG354581	CCDS424.1	1p34.3	2013-01-17			ENSG00000134690	ENSG00000134690	55143	55143			14629	protein-coding gene	gene with protein product	borealin	609977			NA	12188893, 15260989	Standard	NM_018101	NM_001256875	NA	Approved	FLJ12042, MESRGP, BOR, DasraB	uc001cbs.4	Q53HL2	OTTHUMG00000004320	ENST00000373055.1:c.642C>T	1.37:g.38171170C>T		NA	D3DPT4|Q53HN1|Q96AM3|Q9NVW5	37	CCDS424.1																																																																																			CDCA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012473.1		+	ENST00000373055.1	Silent	SNP	1 : 38171170 - 38171170 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	376	193
CDH20	28316	broad.mit.edu	37	18	59157880	59157880	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr18:59157880G>A	ENST00000262717.4	+	2	492	c.94G>A	c.(94-96)Gtt>Att	p.V32I	CDH20_ENST00000536675.2_Missense_Mutation_p.V32I|CDH20_ENST00000538374.1_Missense_Mutation_p.V32I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	32					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TACGACCACCGTTCTCTCGGA	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													139	120	126			NA	NA	18		NA											NA				59157880		2203	4300	6503	SO:0001583	missense			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542	28316	28316		Cadherins / Major cadherins	1760	protein-coding gene	gene with protein product		605807			NA	10995570	Standard	NM_031891	NM_031891	NA	Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.94G>A	18.37:g.59157880G>A	ENSP00000262717:p.Val32Ile	NA	Q495S3	37	CCDS11977.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412478	0.25465	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.56275	0.47;0.47;0.47	5.27	4.4	0.53042	.	0.355193	0.27645	N	0.018453	T	0.33498	0.0865	N	0.24115	0.695	0.36293	D	0.856552	P	0.39737	0.685	B	0.28385	0.089	T	0.40232	-0.9574	10	0.30078	T	0.28	.	14.1717	0.65514	0.0726:0.0:0.9274:0.0	.	32	Q9HBT6	CAD20_HUMAN	I	32	ENSP00000444767:V32I;ENSP00000442226:V32I;ENSP00000262717:V32I	ENSP00000262717:V32I	V	+	1	0	CDH20	57308860	0.998000	0.40836	0.824000	0.32777	0.248000	0.25809	3.106000	0.50322	1.357000	0.45904	0.563000	0.77884	GTT	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256141.2		+	ENST00000262717.4	Missense_Mutation	SNP	18 : 59157880 - 59157880 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	403	109
CERS2	29956	broad.mit.edu	37	1	150938637	150938637	+	Missense_Mutation	SNP	C	C	T	rs145160991		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:150938637C>T	ENST00000345896.4	-	0	1181				CERS2_ENST00000271688.6_Missense_Mutation_p.R377H|CERS2_ENST00000368954.5_Missense_Mutation_p.R377H|CERS2_ENST00000561294.1_Intron|RP11-316M1.12_ENST00000561111.1_RNA			Q96G23	CERS2_HUMAN	ceramide synthase 2	NA						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity				NA						GTCATTCTTACGATGGTTGTT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													143	136	138			NA	NA	1		NA											NA				150938637		2203	4300	6503	SO:0001623	5_prime_UTR_variant			AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418	29956	29956		Homeoboxes / CERS class	14076	protein-coding gene	gene with protein product		606920	longevity assurance (LAG1, S. cerevisiae) homolog 2, LAG1 longevity assurance homolog 2 (S. cerevisiae), LAG1 homolog, ceramide synthase 2	LASS2	NA	11543633	Standard	NM_022075	NM_181746	NA	Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000345896.4:c.-989G>A	1.37:g.150938637C>T		NA	D3DV06|Q5SZE5|Q9HD96|Q9NW79	37		.	.	.	.	.	.	.	.	.	.	C	11.39	1.624963	0.28889	.	.	ENSG00000143418	ENST00000368954;ENST00000271688;ENST00000345896	T;T;T	0.23950	2.86;2.86;1.88	5.17	-0.154	0.13399	.	0.719446	0.13187	N	0.407030	T	0.06872	0.0175	L	0.41492	1.28	0.23043	N	0.998389	B	0.06786	0.001	B	0.01281	0.0	T	0.35724	-0.9777	10	0.48119	T	0.1	1.763	6.7481	0.23472	0.0:0.3802:0.4053:0.2144	.	377	Q96G23	CERS2_HUMAN	H	377;377;227	ENSP00000357950:R377H;ENSP00000271688:R377H;ENSP00000337842:R227H	ENSP00000271688:R377H	R	-	2	0	CERS2	149205261	0.730000	0.28100	0.982000	0.44146	0.829000	0.46940	0.199000	0.17237	-0.166000	0.10890	0.561000	0.74099	CGT	CERS2-002	KNOWN	basic|exp_conf	processed_transcript	NA	protein_coding	OTTHUMT00000084898.2		-	ENST00000345896.4	5'UTR	SNP	1 : 150938637 - 150938637 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	717	148
CTNNA2	1496	broad.mit.edu	37	2	80782890	80782890	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:80782890G>A	ENST00000402739.4	+	11	1618	c.1613G>A	c.(1612-1614)cGg>cAg	p.R538Q	CTNNA2_ENST00000343114.3_Missense_Mutation_p.R217Q|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R572Q|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R538Q|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R538Q|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R538Q|CTNNA2_ENST00000466387.1_Missense_Mutation_p.R538Q	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	538					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R538Q(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACTCTGGACCGGACTGCAGGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	kidney(2)						G	GLN/ARG,GLN/ARG	0,3754		0,0,1877	83	83	83		1613,1613	5.5	1	2		83	1,8221		0,1,4110	no	missense,missense	CTNNA2	NM_001164883.1,NM_004389.3	43,43	0,1,5987	AA,AG,GG	NA	0.0122,0.0,0.0084	probably-damaging,probably-damaging	538/861,538/906	80782890	1,11975	1877	4111	5988	SO:0001583	missense				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032	1496	1496			2510	protein-coding gene	gene with protein product	cadherin-associated protein, related, cancer/testis antigen 114	114025			NA	8432524	Standard	NM_004389	NM_004389	NA	Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.1613G>A	2.37:g.80782890G>A	ENSP00000384638:p.Arg538Gln	NA	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	37		.	.	.	.	.	.	.	.	.	.	G	34	5.363707	0.95877	0.0	1.22E-4	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.59542	0.2201	M	0.80616	2.505	0.58432	D	0.999999	P;D;D;D	0.58970	0.456;0.982;0.965;0.984	B;P;P;P	0.56788	0.076;0.806;0.612;0.769	T	0.60311	-0.7288	9	.	.	.	.	19.8176	0.96576	0.0:0.0:1.0:0.0	.	170;538;538;538	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	Q	538;538;572;538;538;538;217	ENSP00000418191:R538Q;ENSP00000419295:R538Q;ENSP00000355398:R572Q;ENSP00000384638:R538Q;ENSP00000444675:R538Q;ENSP00000441705:R538Q;ENSP00000341500:R217Q	.	R	+	2	0	CTNNA2	80636401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.743000	0.98849	2.765000	0.95021	0.650000	0.86243	CGG	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000328511.4		+	ENST00000402739.4	Missense_Mutation	SNP	2 : 80782890 - 80782890 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	570	12
CTNND1	1500	broad.mit.edu	37	11	57564171	57564172	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:57564171_57564172insC	ENST00000524630.1	+	6	1176_1177	c.663_664insC	c.(664-666)ccafs	p.P222fs	CTNND1_ENST00000532649.1_Frame_Shift_Ins_p.P168fs|CTNND1_ENST00000399039.4_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000532787.1_Frame_Shift_Ins_p.P121fs|CTNND1_ENST00000529919.1_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000529986.1_Frame_Shift_Ins_p.P121fs|CTNND1_ENST00000528232.1_Frame_Shift_Ins_p.P121fs|CTNND1_ENST00000361332.4_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361391.6_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000358694.6_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000534579.1_Frame_Shift_Ins_p.P168fs|CTNND1_ENST00000532463.1_Frame_Shift_Ins_p.P121fs|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000361796.4_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000529873.1_Frame_Shift_Ins_p.P168fs|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000526938.1_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000415361.2_Frame_Shift_Ins_p.P121fs|CTNND1_ENST00000426142.2_Frame_Shift_Ins_p.P121fs|CTNND1_ENST00000529526.1_Frame_Shift_Ins_p.P168fs|CTNND1_ENST00000532245.1_Frame_Shift_Ins_p.P121fs|CTNND1_ENST00000526357.1_Frame_Shift_Ins_p.P168fs|CTNND1_ENST00000530094.1_Frame_Shift_Ins_p.P121fs|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000528621.1_Frame_Shift_Ins_p.P168fs|CTNND1_ENST00000532844.1_Frame_Shift_Ins_p.P168fs|CTNND1_ENST00000428599.2_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000399050.4_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000360682.6_Frame_Shift_Ins_p.P222fs|CTNND1_ENST00000530748.1_Frame_Shift_Ins_p.P168fs			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	222					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGATGGTTATCCAGGTGGCAG	0.564		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561	1500	1500		Armadillo repeat containing	2515	protein-coding gene	gene with protein product		601045		CTNND	NA	8808291	Standard	NM_001331	NM_001085460	NA	Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000524630.1:c.665dupC	11.37:g.57564173_57564173dupC	ENSP00000436543:p.Pro222fs	NA	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	37	CCDS44606.1																																																																																			CTNND1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393939.2		+	ENST00000524630.1	Frame_Shift_Ins	INS	11 : 57564171 - 57564172 C PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	883	155
CYP11A1	1583	broad.mit.edu	37	15	74635350	74635350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr15:74635350C>T	ENST00000358632.4	-	5	1179	c.484G>A	c.(484-486)Gtc>Atc	p.V162I	CYP11A1_ENST00000268053.6_Missense_Mutation_p.V320I|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Missense_Mutation_p.V162I	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	320					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ATCTCTGTGACGTTGGCCTTG	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(87;818 1337 4093 9268 37314)							NA				0													141	108	119			NA	NA	15		NA											NA				74635350		2197	4296	6493	SO:0001583	missense			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1583	1583	1.14.15.6	Cytochrome P450s	2590	protein-coding gene	gene with protein product	cholesterol monooxygenase (side-chain-cleaving)	118485	cytochrome P450, subfamily XIA (cholesterol side chain cleavage)	CYP11A	NA		Standard		NM_000781	NA	Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000358632.4:c.484G>A	15.37:g.74635350C>T	ENSP00000351455:p.Val162Ile	NA	A8K8D5|Q15081|Q16805|Q8N1A7	37	CCDS45303.1	.	.	.	.	.	.	.	.	.	.	C	3.661	-0.069470	0.07228	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	T;T;T	0.71934	-0.61;-0.61;-0.61	4.46	-5.98	0.02220	.	0.400154	0.28589	N	0.014807	T	0.44705	0.1306	N	0.17345	0.48	0.20764	N	0.999856	B;B	0.18013	0.025;0.003	B;B	0.21360	0.034;0.024	T	0.43032	-0.9416	10	0.06365	T	0.9	-21.0828	14.4151	0.67145	0.0:0.5877:0.0:0.4123	.	290;320	B4DTE5;P05108	.;CP11A_HUMAN	I	320;162;162;85	ENSP00000268053:V320I;ENSP00000351455:V162I;ENSP00000405488:V162I	ENSP00000268053:V320I	V	-	1	0	CYP11A1	72422403	0.000000	0.05858	0.000000	0.03702	0.253000	0.25986	-0.994000	0.03716	-1.199000	0.02666	0.442000	0.29010	GTC	CYP11A1-002	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319738.1		-	ENST00000358632.4	Missense_Mutation	SNP	15 : 74635350 - 74635350 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	669	106
DEK	7913	broad.mit.edu	37	6	18236737	18236740	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	TTTC	TTTC	-	-	TTTC	TTTC	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:18236737_18236740delTTTC	ENST00000397239.3	-	9	1437_1440	c.990_993delGAAA	c.(988-993)aagaaafs	p.KK330fs	DEK_ENST00000244776.7_Frame_Shift_Del_p.KK296fs	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	330					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TGGCCAGTAATTTCTTTATTGTTT	0.314		NA	T	NUP214	AML									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		6	6p23	7913	DEK oncogene (DNA binding)		L	0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795	7913	7913			2768	protein-coding gene	gene with protein product		125264	DEK oncogene (DNA binding), DEK oncogene		NA	1549122	Standard		NM_003472	NA	Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.990_993delGAAA	6.37:g.18236737_18236740delTTTC	ENSP00000380414:p.Lys330fs	NA	B2R6K6|Q5TGV4|Q5TGV5	37	CCDS34344.1																																																																																			DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039962.4		-	ENST00000397239.3	Frame_Shift_Del	DEL	6 : 18236737 - 18236740 - PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	429	68
DIRAS3	9077	broad.mit.edu	37	1	68512928	68512928	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:68512928C>T	ENST00000370981.1	-	4	689	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	GNG12-AS1_ENST00000420587.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R18Q|GNG12-AS1_ENST00000413628.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	18					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGCAGAAGCCGCAACCGCTT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													28	32	30			NA	NA	1		NA											NA				68512928		2183	4282	6465	SO:0001583	missense			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595	9077	9077			687	protein-coding gene	gene with protein product		605193	ras homolog gene family, member I	ARHI	NA	9874798	Standard	NM_004675	XM_006711027	NA	Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.53G>A	1.37:g.68512928C>T	ENSP00000360020:p.Arg18Gln	NA	B3KMP3	37	CCDS641.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.665384	0.47677	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	T;T	0.72725	-0.68;-0.68	3.62	-3.88	0.04205	.	.	.	.	.	T	0.24236	0.0587	N	0.24115	0.695	0.09310	N	1	B	0.30033	0.266	B	0.15052	0.012	T	0.11842	-1.0571	9	0.87932	D	0	.	0.8351	0.01138	0.1526:0.2283:0.3008:0.3183	.	18	O95661	DIRA3_HUMAN	Q	18	ENSP00000360020:R18Q;ENSP00000378627:R18Q	ENSP00000360020:R18Q	R	-	2	0	DIRAS3	68285516	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-1.333000	0.02667	-0.374000	0.07967	0.467000	0.42956	CGG	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000026354.2		-	ENST00000370981.1	Missense_Mutation	SNP	1 : 68512928 - 68512928 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	314	68
EFCAB14	9813	broad.mit.edu	37	1	47144265	47144265	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:47144265C>T	ENST00000371933.3	-	11	2332	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	EFCAB14_ENST00000544071.1_Intron|EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14	NA											NA						AGGTCAGCTTCCCATCCACGT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	94	94			NA	NA	1		NA											NA				47144265		2203	4300	6503	SO:0001819	synonymous_variant			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658	9813	9813		EF-hand domain containing	29051	protein-coding gene	gene with protein product			KIAA0494	KIAA0494	NA	9455484	Standard	NM_014774	NM_014774	NA	Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.1356G>A	1.37:g.47144265C>T		NA		37	CCDS30706.1																																																																																			EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000021931.1		-	ENST00000371933.3	Silent	SNP	1 : 47144265 - 47144265 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	322	8
EIF4E1B	253314	broad.mit.edu	37	5	176072487	176072487	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:176072487C>T	ENST00000318682.6	+	8	1168	c.584C>T	c.(583-585)gCg>gTg	p.A195V	EIF4E1B_ENST00000512734.1_3'UTR|EIF4E1B_ENST00000504597.1_Missense_Mutation_p.A195V	NM_001099408.1	NP_001092878.1	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E family member 1B	195					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACGAGGGAGGCGGAAAACCAG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	74	69			NA	NA	5		NA											NA				176072487		2161	4250	6411	SO:0001583	missense				CCDS47345.1	5q35.2	2008-06-12			ENSG00000175766	ENSG00000175766	253314	253314			33179	protein-coding gene	gene with protein product					NA	16191198	Standard	NM_001099408	NM_001099408	NA	Approved	FLJ36951	uc010jkf.1	A6NMX2	OTTHUMG00000163227	ENST00000318682.6:c.584C>T	5.37:g.176072487C>T	ENSP00000323714:p.Ala195Val	NA		37	CCDS47345.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.847382	0.51164	.	.	ENSG00000175766	ENST00000318682;ENST00000504597;ENST00000505497	T;T	0.48201	0.82;0.82	5.14	4.26	0.50523	Translation Initiation factor eIF- 4e-like  domain (2);	0.068896	0.56097	D	0.000022	T	0.53948	0.1828	M	0.67517	2.055	0.35711	D	0.816354	P	0.48503	0.911	P	0.46940	0.532	T	0.68723	-0.5333	10	0.59425	D	0.04	.	15.3045	0.73982	0.0:0.8591:0.1409:0.0	.	195	A6NMX2	I4E1B_HUMAN	V	195;195;123	ENSP00000323714:A195V;ENSP00000427633:A195V	ENSP00000323714:A195V	A	+	2	0	EIF4E1B	176005093	0.948000	0.32251	0.039000	0.18376	0.284000	0.27059	2.153000	0.42282	1.164000	0.42652	0.462000	0.41574	GCG	EIF4E1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000372187.1		+	ENST00000318682.6	Missense_Mutation	SNP	5 : 176072487 - 176072487 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	267	11
EPHA10	284656	broad.mit.edu	37	1	38227571	38227571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr1:38227571G>A	ENST00000373048.4	-	3	355	c.356C>T	c.(355-357)gCg>gTg	p.A119V	EPHA10_ENST00000319637.6_Missense_Mutation_p.A119V|EPHA10_ENST00000427468.2_Missense_Mutation_p.A119V	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	119						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCAGGTACCCGCGGCGCCAGG	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	92	91			NA	NA	1		NA											NA				38227571		2203	4300	6503	SO:0001583	missense			AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317	284656	284656		EPH receptors, Sterile alpha motif (SAM) domain containing, Fibronectin type III domain containing	19987	protein-coding gene	gene with protein product		611123			NA	12477932	Standard	NM_173641	NM_001099439	NA	Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.356C>T	1.37:g.38227571G>A	ENSP00000362139:p.Ala119Val	NA	A4FU89|Q6NW42	37	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672770	0.29693	.	.	ENSG00000183317	ENST00000427468;ENST00000373048;ENST00000319637	T;T;T	0.03745	3.82;3.82;3.82	4.61	4.61	0.57282	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.570634	0.14686	N	0.304472	T	0.02888	0.0086	N	0.25957	0.775	0.80722	D	1	B;P	0.38280	0.271;0.625	B;B	0.31245	0.126;0.018	T	0.42189	-0.9466	10	0.02654	T	1	.	16.9502	0.86243	0.0:0.0:1.0:0.0	.	119;119	Q5JZY3;Q5JZY3-2	EPHAA_HUMAN;.	V	119	ENSP00000397746:A119V;ENSP00000362139:A119V;ENSP00000316395:A119V	ENSP00000316395:A119V	A	-	2	0	EPHA10	38000158	0.008000	0.16893	0.798000	0.32154	0.978000	0.69477	1.676000	0.37565	2.529000	0.85273	0.549000	0.68633	GCG	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012497.2		-	ENST00000373048.4	Missense_Mutation	SNP	1 : 38227571 - 38227571 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	2385	225
FBN3	84467	broad.mit.edu	37	19	8160957	8160957	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:8160957G>A	ENST00000600128.1	-	45	5961	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D	FBN3_ENST00000601739.1_Silent_p.D1849D|FBN3_ENST00000270509.2_Silent_p.D1849D			Q75N90	FBN3_HUMAN	fibrillin 3	1849	EGF-like 29; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACACTCGTCAATGTCTG	0.582		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	5e-04	1	EXOME	NA	NA	2e-04	SNP								NA				0													107	85	93			NA	NA	19		NA											NA				8160957		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12196.1	19p13	2008-02-05					84467	84467			18794	protein-coding gene	gene with protein product		608529			NA		Standard	NM_032447	NM_032447	NA	Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5547C>T	19.37:g.8160957G>A		NA	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	37	CCDS12196.1																																																																																			FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000461428.2		-	ENST00000600128.1	Silent	SNP	19 : 8160957 - 8160957 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	315	70
FOXF1	2294	broad.mit.edu	37	16	86544637	86544637	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:86544637G>T	ENST00000262426.4	+	1	505	c.462G>T	c.(460-462)atG>atT	p.M154I		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	154					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						TCAAGCCCATGTACAGCATGA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	50	47			NA	NA	16		NA											NA				86544637		2198	4298	6496	SO:0001583	missense			U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241	2294	2294		Forkhead boxes	3809	protein-coding gene	gene with protein product		601089		FKHL5	NA	8825632, 7957066	Standard	NM_001451	NM_001451	NA	Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.462G>T	16.37:g.86544637G>T	ENSP00000262426:p.Met154Ile	NA	B2RAF4|Q5FWE5	37	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	G	18.06	3.538931	0.65085	.	.	ENSG00000103241	ENST00000262426	T	0.28895	1.59	4.51	4.51	0.55191	.	0.171964	0.50627	D	0.000107	T	0.28200	0.0696	L	0.39898	1.24	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.05305	-1.0893	10	0.40728	T	0.16	.	16.1868	0.81960	0.0:0.0:1.0:0.0	.	154	Q12946	FOXF1_HUMAN	I	154	ENSP00000262426:M154I	ENSP00000262426:M154I	M	+	3	0	FOXF1	85102138	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.215000	0.72206	2.052000	0.61016	0.650000	0.86243	ATG	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269103.2		+	ENST00000262426.4	Missense_Mutation	SNP	16 : 86544637 - 86544637 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	743	135
FUT1	2523	broad.mit.edu	37	19	49253828	49253828	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:49253828G>A	ENST00000310160.3	-	4	1685	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCGCTGTCGCCCACCACAC	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	70	72			NA	NA	19		NA											NA				49253828		2203	4299	6502	SO:0001819	synonymous_variant				CCDS12733.1	19q13.33	2014-07-19	2006-01-19		ENSG00000174951	ENSG00000174951	2523	2523	2.4.1.69	Blood group antigens, Fucosyltransferases	4012	protein-coding gene	gene with protein product		211100	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, Bombay phenotype included), fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase)	H, HSC	NA		Standard	NM_000148	NM_000148	NA	Approved		uc002pkk.3	P19526		ENST00000310160.3:c.711C>T	19.37:g.49253828G>A		NA	O14505|O14506|O14507	37	CCDS12733.1																																																																																			FUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466194.1		-	ENST00000310160.3	Silent	SNP	19 : 49253828 - 49253828 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	838	171
GLI2	2736	broad.mit.edu	37	2	121747768	121747768	+	Silent	SNP	G	G	A	rs143388073	by1000genomes	TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr2:121747768G>A	ENST00000452319.1	+	14	4338	c.4278G>A	c.(4276-4278)tcG>tcA	p.S1426S	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Silent_p.S1426S			P10070	GLI2_HUMAN	GLI family zinc finger 2	1426					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACATGGGGTCGGTGCCTCCCC	0.657		NA											g	1	5e-04	NA	NA	2184	0.0017	0.9997	,	,	NA	3e-04	NA	NA	NA	6e-04	0.8036	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													36	40	39			NA	NA	2		NA											NA				121747768		2201	4300	6501	SO:0001819	synonymous_variant				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047	2736	2736		Zinc fingers, C2H2-type	4318	protein-coding gene	gene with protein product	tax-responsive element-2 holding protein, tax helper protein 1, tax helper protein 2	165230	GLI-Kruppel family member GLI2, glioma-associated oncogene family zinc finger 2		NA	2850480, 9557682	Standard	NM_005270	NM_005270	NA	Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4278G>A	2.37:g.121747768G>A		NA	O60252|O60253|O60254|O60255|Q15590|Q15591|Q4JHT4	37	CCDS33283.1																																																																																			GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000332293.3		+	ENST00000452319.1	Silent	SNP	2 : 121747768 - 121747768 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	434	87
GPR132	29933	broad.mit.edu	37	14	105518434	105518434	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr14:105518434C>T	ENST00000392585.2	-	3	186	c.13G>A	c.(13-15)Gcc>Acc	p.A5T	GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000329797.3_Missense_Mutation_p.A14T|GPR132_ENST00000539291.2_Missense_Mutation_p.A14T	NM_001278695.1	NP_001265624.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	14					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACTGGGGTGGCGTTTCCTGTG	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													51	60	57			NA	NA	14		NA											NA				105518434		2203	4300	6503	SO:0001583	missense			AF083955	CCDS9997.1, CCDS61567.1	14q32.3	2012-08-21			ENSG00000183484	ENSG00000183484	29933	29933		GPCR / Class A : Orphans	17482	protein-coding gene	gene with protein product	G2 accumulation	606167			NA	12086852	Standard	NM_013345	NM_013345	NA	Approved	G2A	uc001yqd.3	Q9UNW8	OTTHUMG00000140173	ENST00000392585.2:c.13G>A	14.37:g.105518434C>T	ENSP00000376364:p.Ala5Thr	NA	Q9BSU2	37		.	.	.	.	.	.	.	.	.	.	C	2.544	-0.305511	0.05495	.	.	ENSG00000183484	ENST00000329797;ENST00000392585;ENST00000539291	T;T;T	0.35421	1.31;1.32;1.31	3.86	-3.79	0.04320	.	2.460100	0.02533	N	0.093797	T	0.20740	0.0499	N	0.17082	0.46	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.06405	0.002;0.002	T	0.22765	-1.0207	10	0.09590	T	0.72	.	9.9639	0.41712	0.0:0.2553:0.0:0.7447	.	5;14	B4E144;Q9UNW8	.;GP132_HUMAN	T	14;5;14	ENSP00000328818:A14T;ENSP00000376364:A5T;ENSP00000438094:A14T	ENSP00000328818:A14T	A	-	1	0	GPR132	104589479	0.000000	0.05858	0.099000	0.21106	0.067000	0.16453	-1.838000	0.01687	-0.792000	0.04480	0.561000	0.74099	GCC	GPR132-002	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000409279.1		-	ENST00000392585.2	Missense_Mutation	SNP	14 : 105518434 - 105518434 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	436	88
GRIN2A	2903	broad.mit.edu	37	16	10032400	10032400	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr16:10032400C>T	ENST00000396573.2	-	4	732	c.423G>A	c.(421-423)acG>acA	p.T141T	GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000404927.2_Silent_p.T141T|GRIN2A_ENST00000330684.3_Silent_p.T141T|GRIN2A_ENST00000396575.2_Silent_p.T141T|GRIN2A_ENST00000562109.1_Silent_p.T141T|GRIN2A_ENST00000535259.1_5'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	141					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGAAGGTAGACGTCGGATCCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	41	42			NA	NA	16		NA											NA				10032400		2177	4230	6407	SO:0001819	synonymous_variant				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454	NA	2903		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4585	protein-coding gene	gene with protein product		138253		NMDAR2A	NA	9480759	Standard		XM_005255267	NA	Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.423G>A	16.37:g.10032400C>T		NA	O00669	37	CCDS10539.1																																																																																			GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251930.3		-	ENST00000396573.2	Silent	SNP	16 : 10032400 - 10032400 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	458	50
HIST1H2BC	8347	broad.mit.edu	37	6	26124090	26124090	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr6:26124090A>T	ENST00000314332.5	-	1	48	c.43T>A	c.(43-45)Tcc>Acc	p.S15T	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.S15T			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						GCCTTCTTGGAGCCCTTCTTC	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	109	111			NA	NA	6		NA											NA				26124090		2203	4300	6503	SO:0001583	missense			Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596	8347	8347		Histones / Replication-dependent	4757	protein-coding gene	gene with protein product		602847	H2B histone family, member L, histone 1, H2bc	H2BFL	NA	9119399, 12408966	Standard	NM_003526	NM_003526	NA	Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.43T>A	6.37:g.26124090A>T	ENSP00000321744:p.Ser15Thr	NA	P02278|Q3B872|Q4VB69|Q93078|Q93080	37	CCDS4584.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.252731	0.80135	.	.	ENSG00000180596	ENST00000314332;ENST00000396984	T;T	0.21932	1.98;1.98	5.76	5.76	0.90799	Histone-fold (2);	.	.	.	.	T	0.11922	0.0290	.	.	.	0.40614	D	0.981708	B	0.23650	0.089	B	0.23018	0.043	T	0.02603	-1.1135	8	0.66056	D	0.02	.	15.5474	0.76118	1.0:0.0:0.0:0.0	.	15	P62807	H2B1C_HUMAN	T	15	ENSP00000321744:S15T;ENSP00000380180:S15T	ENSP00000321744:S15T	S	-	1	0	HIST1H2BC	26232069	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.875000	0.75551	2.322000	0.78497	0.528000	0.53228	TCC	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000468022.1		-	ENST00000314332.5	Missense_Mutation	SNP	6 : 26124090 - 26124090 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	689	163
ISPD	729920	broad.mit.edu	37	7	16298589	16298589	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:16298589G>A	ENST00000407010.2	-	7	981	c.982C>T	c.(982-984)Cag>Tag	p.Q328*	ISPD_ENST00000399310.3_Nonsense_Mutation_p.Q278*|ISPD-AS1_ENST00000438573.1_RNA|ISPD-AS1_ENST00000457112.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	328					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ATGATTTGCTGAAGATGTCTG	0.348		NA								Multiple Myeloma(15;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	68	69			NA	NA	7		NA											NA				16298589		1935	4141	6076	SO:0001587	stop_gained			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960	729920	729920			37276	protein-coding gene	gene with protein product	notch1-induced protein, 4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)	614631			NA	11181995	Standard	NM_001101426	NM_001101417	NA	Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.982C>T	7.37:g.16298589G>A	ENSP00000385478:p.Gln328*	NA	A8MU35	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.527389	0.85706	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	.	.	.	5.77	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-42.9086	10.2954	0.43620	0.0:0.4159:0.4409:0.1432	.	.	.	.	X	328;278	.	ENSP00000382249:Q278X	Q	-	1	0	ISPD	16265114	0.074000	0.21230	0.038000	0.18304	0.475000	0.33008	1.225000	0.32551	0.062000	0.16340	-0.172000	0.13284	CAG	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000326252.4		-	ENST00000407010.2	Nonsense_Mutation	SNP	7 : 16298589 - 16298589 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	117	16
KCNA5	3741	broad.mit.edu	37	12	5154138	5154138	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:5154138C>A	ENST00000252321.3	+	1	1054	c.825C>A	c.(823-825)ttC>ttA	p.F275L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	275						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						TGCCTGAGTTCAGGGATGAAC	0.682		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	12		NA											NA				5154138		2203	4300	6503	SO:0001583	missense			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037	3741	3741		Potassium channels, Voltage-gated ion channels / Potassium channels	6224	protein-coding gene	gene with protein product		176267			NA	16382104	Standard	NM_002234	NM_002234	NA	Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.825C>A	12.37:g.5154138C>A	ENSP00000252321:p.Phe275Leu	NA	Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	37	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852814	0.51270	.	.	ENSG00000130037	ENST00000252321	T	0.59224	0.28	4.77	4.77	0.60923	.	0.128811	0.52532	D	0.000063	T	0.59376	0.2189	L	0.56340	1.77	0.80722	D	1	B	0.30824	0.296	B	0.38020	0.263	T	0.61362	-0.7078	10	0.48119	T	0.1	.	16.9696	0.86295	0.0:1.0:0.0:0.0	.	275	P22460	KCNA5_HUMAN	L	275	ENSP00000252321:F275L	ENSP00000252321:F275L	F	+	3	2	KCNA5	5024399	0.976000	0.34144	0.999000	0.59377	0.995000	0.86356	3.858000	0.55979	2.478000	0.83669	0.561000	0.74099	TTC	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398925.2		+	ENST00000252321.3	Missense_Mutation	SNP	12 : 5154138 - 5154138 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	2373	170
KIF24	347240	broad.mit.edu	37	9	34256484	34256484	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:34256484G>C	ENST00000402558.2	-	10	3145	c.3121C>G	c.(3121-3123)Cat>Gat	p.H1041D	KIF24_ENST00000379174.3_Missense_Mutation_p.H907D|KIF24_ENST00000379166.2_Missense_Mutation_p.H1041D|KIF24_ENST00000345050.2_Missense_Mutation_p.H907D			Q5T7B8	KIF24_HUMAN	kinesin family member 24	1041					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TATTCAGCATGCGTGCCTAAC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													134	122	126			NA	NA	9		NA											NA				34256484		2203	4300	6503	SO:0001583	missense			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638	347240	347240		Kinesins, Sterile alpha motif (SAM) domain containing	19916	protein-coding gene	gene with protein product		613747	chromosome 9 open reading frame 48	C9orf48	NA	12477932	Standard		NM_194313	NA	Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.3121C>G	9.37:g.34256484G>C	ENSP00000384433:p.His1041Asp	NA	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	37	CCDS6551.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.960|3.960	-0.010443|-0.010443	0.07727|0.07727	.|.	.|.	ENSG00000186638|ENSG00000186638	ENST00000443226|ENST00000402558;ENST00000379174;ENST00000379166;ENST00000345050;ENST00000420188	.|T;T;T;T	.|0.70631	.|-0.29;-0.5;-0.29;-0.5	5.29|5.29	2.95|2.95	0.34219|0.34219	.|.	.|0.619763	.|0.14557	.|N	.|0.312309	T|T	0.48572|0.48572	0.1507|0.1507	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.14805	.|0.011	.|B	.|0.12156	.|0.007	T|T	0.31668|0.31668	-0.9935|-0.9935	5|10	.|0.07175	.|T	.|0.84	.|.	5.5638|5.5638	0.17158|0.17158	0.766:0.0:0.0831:0.1509|0.766:0.0:0.0831:0.1509	.|.	.|1041	.|Q5T7B8	.|KIF24_HUMAN	G|D	86|1041;907;1041;907;1041	.|ENSP00000384433:H1041D;ENSP00000368472:H907D;ENSP00000368464:H1041D;ENSP00000340179:H907D	.|ENSP00000340179:H907D	A|H	-|-	2|1	0|0	KIF24|KIF24	34246484|34246484	0.124000|0.124000	0.22315|0.22315	0.002000|0.002000	0.10522|0.10522	0.000000|0.000000	0.00434|0.00434	0.603000|0.603000	0.24149|0.24149	0.351000|0.351000	0.24027|0.24027	-1.325000|-1.325000	0.01285|0.01285	GCA|CAT	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052150.5		-	ENST00000402558.2	Missense_Mutation	SNP	9 : 34256484 - 34256484 C PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	525	87
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	GRCh37	CM076251	KRAS	M	rs121913530						93	83	86			NA	NA	12		NA											NA				25398285		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.34G>C	12.37:g.25398285C>G	ENSP00000308495:p.Gly12Arg	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398285 - 25398285 G PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	117	18
KRT17	3872	broad.mit.edu	37	17	39776925	39776925	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:39776925C>T	ENST00000311208.8	-	6	1234	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	JUP_ENST00000540235.1_Silent_p.E548E	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	389	Coil 2.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CATCCTCTCCCTCCAGCAGGC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(92;1242 2086 39193 50508)							NA				0													30	35	33			NA	NA	17		NA											NA				39776925		2200	4293	6493	SO:0001819	synonymous_variant			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422	3872	3872		-, Intermediate filaments type I, keratins (acidic)	6427	protein-coding gene	gene with protein product		148069		PCHC1	NA	7539673, 1281771, 16831889	Standard	NM_000422	NM_000422	NA	Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.1167G>A	17.37:g.39776925C>T		NA	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	37	CCDS11402.1																																																																																			KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257460.1		-	ENST00000311208.8	Silent	SNP	17 : 39776925 - 39776925 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	512	64
MTUS2	23281	broad.mit.edu	37	13	29600513	29600513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr13:29600513G>A	ENST00000431530.3	+	1	1766	c.1708G>A	c.(1708-1710)Gtg>Atg	p.V570M		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	560						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGATGTTAGCGTGTTCGGTAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/VAL	1,4065		0,1,2032	113	115	114		1708	-1.7	0	13		114	0,8406		0,0,4203	no	missense	MTUS2	NM_001033602.2	21	0,1,6235	AA,AG,GG	NA	0.0,0.0246,0.0080	possibly-damaging	570/1380	29600513	1,12471	2033	4203	6236	SO:0001583	missense			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938	23281	23281			20595	protein-coding gene	gene with protein product	+TIP of 150 kDa, cardiac zipper protein		KIAA0774	KIAA0774	NA	19543227	Standard	XM_166270	NM_001033602	NA	Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1708G>A	13.37:g.29600513G>A	ENSP00000392057:p.Val570Met	NA	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	37	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	12.06	1.823702	0.32237	2.46E-4	0.0	ENSG00000132938	ENST00000431530	T	0.12361	2.69	5.92	-1.74	0.08056	.	0.813733	0.10755	N	0.637863	T	0.07954	0.0199	L	0.44542	1.39	0.09310	N	1	P	0.38167	0.621	B	0.21360	0.034	T	0.27331	-1.0077	9	.	.	.	.	7.3858	0.26882	0.4167:0.1056:0.4777:0.0	.	560	Q5JR59	MTUS2_HUMAN	M	570	ENSP00000392057:V570M	.	V	+	1	0	MTUS2	28498513	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.287000	0.08388	-0.114000	0.11936	-0.140000	0.14226	GTG	MTUS2-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044336.3		+	ENST00000431530.3	Missense_Mutation	SNP	13 : 29600513 - 29600513 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	618	122
NAT1	9	broad.mit.edu	37	8	18079776	18079776	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:18079776C>T	ENST00000517492.1	+	3	858	c.220C>T	c.(220-222)Ctt>Ttt	p.L74F	NAT1_ENST00000541942.1_Missense_Mutation_p.L74F|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000520546.1_Missense_Mutation_p.L74F|NAT1_ENST00000545197.1_Missense_Mutation_p.L136F|NAT1_ENST00000518029.1_Missense_Mutation_p.L74F|NAT1_ENST00000539092.1_Missense_Mutation_p.L74F|NAT1_ENST00000307719.4_Missense_Mutation_p.L74F|NAT1_ENST00000535084.1_Missense_Mutation_p.L74F			P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	74					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		GGTCAATCATCTTCTGTACTG	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	174	181			NA	NA	8		NA											NA				18079776		2203	4300	6503	SO:0001583	missense			BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	9	9	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1	NA	7773298	Standard	NM_000662	NM_001160174	NA	Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.220C>T	8.37:g.18079776C>T	ENSP00000429407:p.Leu74Phe	NA	A8K4E7|O15159|O15300|Q546N1|Q96TE9	37	CCDS6007.1	.	.	.	.	.	.	.	.	.	.	.	14.63	2.592962	0.46214	.	.	ENSG00000171428	ENST00000535084;ENST00000307719;ENST00000545197;ENST00000539092;ENST00000541942;ENST00000518029;ENST00000517492;ENST00000520546	T;T;T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48	4.22	3.31	0.37934	.	0.157353	0.43919	D	0.000508	T	0.21631	0.0521	M	0.83312	2.635	0.45295	D	0.998297	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.986	T	0.00484	-1.1712	10	0.87932	D	0	.	5.3424	0.15990	0.2035:0.6892:0.0:0.1073	.	136;74	F5H5R8;P18440	.;ARY1_HUMAN	F	74;74;136;74;74;74;74;74	ENSP00000444609:L74F;ENSP00000307218:L74F;ENSP00000443194:L136F;ENSP00000440434:L74F;ENSP00000440900:L74F;ENSP00000428270:L74F;ENSP00000429407:L74F;ENSP00000429341:L74F	ENSP00000307218:L74F	L	+	1	0	NAT1	18124056	0.984000	0.35163	0.697000	0.30258	0.598000	0.36846	1.214000	0.32419	0.853000	0.35312	0.460000	0.39030	CTT	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374828.1		+	ENST00000517492.1	Missense_Mutation	SNP	8 : 18079776 - 18079776 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	663	11
NAT10	55226	broad.mit.edu	37	11	34162110	34162110	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:34162110G>A	ENST00000257829.3	+	24	2789	c.2583G>A	c.(2581-2583)gcG>gcA	p.A861A	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.A789A	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	861	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCCTGTCTGCGGCTCAGTCGG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	,	1,4403	2.1+/-5.4	0,1,2201	68	58	61		2367,2583	-10.6	0	11		61	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	NAT10	NM_001144030.1,NM_024662.2	,	0,1,6499	AA,AG,GG	NA	0.0,0.0227,0.0077	,	789/954,861/1026	34162110	1,12999	2202	4298	6500	SO:0001819	synonymous_variant			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	55226	55226	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	N-acetyltransferase 10		NA	14592445, 21177859	Standard	NM_024662	NM_024662	NA	Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2583G>A	11.37:g.34162110G>A		NA	Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	37	CCDS7889.1																																																																																			NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388693.1		+	ENST00000257829.3	Silent	SNP	11 : 34162110 - 34162110 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	209	36
NTF4	4909	broad.mit.edu	37	19	49564658	49564658	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:49564658G>A	ENST00000593537.1	-	1	596	c.597C>T	c.(595-597)tgC>tgT	p.C199C	NTF4_ENST00000301411.3_Silent_p.C199C|NTF4_ENST00000451356.2_Intron			P34130	NTF4_HUMAN	neurotrophin 4	199					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GTGTGCAGACGCAGGCAGTGT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													38	34	35			NA	NA	19		NA											NA				49564658		2203	4300	6503	SO:0001819	synonymous_variant				CCDS12754.1	19q13.3	2014-01-30	2008-01-31	2008-01-31		ENSG00000225950	4909	4909		Endogenous ligands	8024	protein-coding gene	gene with protein product	neurotrophic factor 4	162662	neurotrophin 5 (neurotrophin 4/5)	NTF5	NA	1496419	Standard	NM_006179	NM_006179	NA	Approved	NT-4/5, GLC1O	uc010yah.1	P34130		ENST00000593537.1:c.597C>T	19.37:g.49564658G>A		NA	Q6FH56	37	CCDS12754.1																																																																																			NTF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466258.1		-	ENST00000593537.1	Silent	SNP	19 : 49564658 - 49564658 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	393	71
OR2F1	26211	broad.mit.edu	37	7	143657411	143657411	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:143657411G>A	ENST00000392899.1	+	1	385	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TTCTCCTGGCGGTGATGGCCT	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	160	170			NA	NA	7		NA											NA				143657411		2203	4300	6503	SO:0001819	synonymous_variant			U56421	CCDS5887.1	7q35	2013-06-03	2013-06-03		ENSG00000213215	ENSG00000213215	26211	26211		GPCR / Class A : Olfactory receptors	8246	protein-coding gene	gene with protein product		608497	olfactory receptor, family 2, subfamily F, member 1	OR2F4, OR2F5, OR2F3, OR2F3P	NA	9500546	Standard		NM_012369	NA	Approved	OLF3, OR7-140, OR7-139, OR14-60	uc003wds.1	Q13607	OTTHUMG00000157771	ENST00000392899.1:c.348G>A	7.37:g.143657411G>A		NA	A4D2G1|Q6IFP7|Q96R49|Q9UDX1	37	CCDS5887.1																																																																																			OR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000349581.1		+	ENST00000392899.1	Silent	SNP	7 : 143657411 - 143657411 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	850	116
OR4C6	219432	broad.mit.edu	37	11	55433411	55433411	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:55433411A>G	ENST00000314259.3	+	1	798	c.769A>G	c.(769-771)Atg>Gtg	p.M257V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTTCTTGTACATGAGGCCTGT	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	110	111			NA	NA	11		NA											NA				55433411		2200	4296	6496	SO:0001583	missense			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903	219432	219432		GPCR / Class A : Olfactory receptors	14743	protein-coding gene	gene with protein product					NA		Standard	NM_001004704	NM_001004704	NA	Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.769A>G	11.37:g.55433411A>G	ENSP00000324769:p.Met257Val	NA	B2RP11|Q6IFD2	37	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.952514	0.00470	.	.	ENSG00000181903	ENST00000314259	T	0.35048	1.33	4.07	-8.14	0.01069	GPCR, rhodopsin-like superfamily (1);	0.636179	0.12704	N	0.446070	T	0.10895	0.0266	N	0.04320	-0.23	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.37686	-0.9695	10	0.06494	T	0.89	.	10.1057	0.42533	0.3066:0.1563:0.5371:0.0	.	257	Q8NH72	OR4C6_HUMAN	V	257	ENSP00000324769:M257V	ENSP00000324769:M257V	M	+	1	0	OR4C6	55189987	0.000000	0.05858	0.000000	0.03702	0.319000	0.28217	-5.700000	0.00104	-1.335000	0.02241	-0.446000	0.05623	ATG	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000391504.1		+	ENST00000314259.3	Missense_Mutation	SNP	11 : 55433411 - 55433411 G PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	755	128
PCSK2	5126	broad.mit.edu	37	20	17462237	17462237	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr20:17462237C>T	ENST00000262545.2	+	12	1754	c.1439C>T	c.(1438-1440)cCa>cTa	p.P480L	PCSK2_ENST00000536609.1_Missense_Mutation_p.P445L|PCSK2_ENST00000377899.1_Missense_Mutation_p.P461L|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	480					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAAAATACCATCCACTGGC	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													124	130	128			NA	NA	20		NA											NA				17462237		2203	4300	6503	SO:0001583	missense			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851	5126	5126			8744	protein-coding gene	gene with protein product	neuroendocrine convertase 2, KEX2-like endoprotease 2	162151		NEC2	NA	1765368	Standard	NM_002594	NM_001201528	NA	Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1439C>T	20.37:g.17462237C>T	ENSP00000262545:p.Pro480Leu	NA	Q14927|Q9NQG3|Q9NUG1|Q9UJC6	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098321	0.56183	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.63096	-0.02;-0.02;-0.02	5.93	5.93	0.95920	Galactose-binding domain-like (1);	0.047325	0.85682	D	0.000000	T	0.67449	0.2894	M	0.79258	2.445	0.80722	D	1	B;B;B	0.16396	0.017;0.017;0.006	B;B;B	0.19391	0.017;0.017;0.025	T	0.64015	-0.6506	10	0.52906	T	0.07	-13.8635	18.9036	0.92452	0.0:1.0:0.0:0.0	.	445;461;480	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	L	461;480;445	ENSP00000367131:P461L;ENSP00000262545:P480L;ENSP00000437458:P445L	ENSP00000262545:P480L	P	+	2	0	PCSK2	17410237	1.000000	0.71417	0.973000	0.42090	0.986000	0.74619	5.835000	0.69368	2.803000	0.96430	0.585000	0.79938	CCA	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078120.2		+	ENST00000262545.2	Missense_Mutation	SNP	20 : 17462237 - 17462237 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	715	107
PILRB	29990	broad.mit.edu	37	7	99956381	99956381	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr7:99956381A>G	ENST00000452089.1	+	7	1192	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PILRB_ENST00000448382.1_Intron|PILRB_ENST00000609309.1_Missense_Mutation_p.M45V|PILRB_ENST00000610247.1_Missense_Mutation_p.M45V|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Missense_Mutation_p.M45V			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	45	Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGCCTCCATGGGTGGCTC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													59	63	62			NA	NA	7		NA											NA				99956381		2202	4292	6494	SO:0001583	missense			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716	29990	29990		Immunoglobulin superfamily / V-set domain containing	18297	protein-coding gene	gene with protein product		605342			NA	10660620	Standard	NM_178238	NM_178238	NA	Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.133A>G	7.37:g.99956381A>G	ENSP00000391748:p.Met45Val	NA	Q69YF9|Q9HBS0	37	CCDS43622.1	.	.	.	.	.	.	.	.	.	.	A	5.191	0.220749	0.09863	.	.	ENSG00000121716	ENST00000310771;ENST00000420688;ENST00000452089;ENST00000457519;ENST00000443526;ENST00000419749;ENST00000422808;ENST00000444073;ENST00000413850;ENST00000438231	T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;2.12	2.48	-3.38	0.04883	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.841170	0.02823	N	0.125801	T	0.46964	0.1420	N	0.22421	0.69	0.09310	N	1	B	0.29162	0.235	B	0.32289	0.143	T	0.28902	-1.0029	9	.	.	.	.	7.8011	0.29174	0.3757:0.0:0.6243:0.0	.	45	Q9UKJ0	PILRB_HUMAN	V	45;45;45;45;45;45;45;45;150;45	ENSP00000311153:M45V;ENSP00000391748:M45V;ENSP00000411261:M45V;ENSP00000403757:M45V;ENSP00000404321:M45V;ENSP00000389856:M45V;ENSP00000410764:M45V;ENSP00000408425:M45V	.	M	+	1	0	PILRB	99794317	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.454000	0.02381	-0.688000	0.05155	-1.415000	0.01116	ATG	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339923.2		+	ENST00000452089.1	Missense_Mutation	SNP	7 : 99956381 - 99956381 G PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	304	6
PNPLA7	375775	broad.mit.edu	37	9	140361771	140361771	+	Missense_Mutation	SNP	C	C	T	rs140172154		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:140361771C>T	ENST00000277531.4	-	25	3148	c.2962G>A	c.(2962-2964)Gag>Aag	p.E988K	PNPLA7_ENST00000406427.1_Missense_Mutation_p.E1013K|PNPLA7_ENST00000371457.1_Missense_Mutation_p.E594K|PNPLA7_ENST00000492278.1_5'UTR	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	988	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CTGCTTACCTCGGCCCACTGC	0.667		NA											C	0	0	NA	NA	2184	NA	1	,	,	NA	3e-04	NA	NA	NA	0	0	EXOME	NA	NA	0.0029	SNP								NA				0								C	LYS/GLU,LYS/GLU	0,4400		0,0,2200	96	67	77		3037,2962	1.8	0.9	9	dbSNP_134	77	1,8597	1.2+/-3.3	0,1,4298	yes	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	56,56	0,1,6498	TT,TC,CC	NA	0.0116,0.0,0.0077	benign,benign	1013/1343,988/1318	140361771	1,12997	2200	4299	6499	SO:0001583	missense			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653	375775	375775		Patatin-like phospholipase domain containing	24768	protein-coding gene	gene with protein product		612122	chromosome 9 open reading frame 111	C9orf111	NA	16799181, 12640454, 19029121	Standard	NM_152286	XM_005266082	NA	Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2962G>A	9.37:g.140361771C>T	ENSP00000277531:p.Glu988Lys	NA	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	37	CCDS7045.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	3.795	-0.042866	0.07452	0.0	1.16E-4	ENSG00000130653	ENST00000371457;ENST00000371446;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15	5.41	1.84	0.25277	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.135738	0.64402	D	0.000004	T	0.43122	0.1233	N	0.04260	-0.245	0.31005	N	0.719851	B;D;B;B	0.56968	0.083;0.978;0.017;0.008	B;B;B;B	0.42188	0.022;0.379;0.01;0.007	T	0.59648	-0.7415	10	0.02654	T	1	-28.4051	0.5744	0.00701	0.2394:0.3272:0.2357:0.1977	.	396;1013;988;254	E2QRF8;Q6ZV29-5;Q6ZV29;B3KXH5	.;.;PLPL7_HUMAN;.	K	594;396;988;1013;988;979	ENSP00000360512:E594K;ENSP00000360501:E396K;ENSP00000277531:E988K;ENSP00000384610:E1013K;ENSP00000400582:E979K	ENSP00000277531:E988K	E	-	1	0	PNPLA7	139481592	1.000000	0.71417	0.897000	0.35233	0.346000	0.29079	3.770000	0.55310	1.246000	0.43901	0.561000	0.74099	GAG	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254787.1		-	ENST00000277531.4	Missense_Mutation	SNP	9 : 140361771 - 140361771 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	160	34
PPP2R3A	5523	broad.mit.edu	37	3	135809443	135809443	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:135809443G>A	ENST00000264977.3	+	10	3478	c.2861G>A	c.(2860-2862)gGa>gAa	p.G954E	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.G333E|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.G218E	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	954					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CAGAAAGAGGGAAGAATGAGC	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	81	80			NA	NA	3		NA											NA				135809443		2203	4300	6503	SO:0001583	missense			L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	5523	5523	3.1.3.16	Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits, EF-hand domain containing	9307	protein-coding gene	gene with protein product		604944	protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform, protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha	PPP2R3	NA	8392071	Standard	NM_002718	NM_002718	NA	Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.2861G>A	3.37:g.135809443G>A	ENSP00000264977:p.Gly954Glu	NA	A8KAE7|B7ZAE3|Q06189|Q9NPQ5	37	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108316	0.77096	.	.	ENSG00000073711	ENST00000264977;ENST00000490467;ENST00000334546	T;T;T	0.20069	2.1;2.1;2.1	5.27	5.27	0.74061	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.28400	0.0702	L	0.50919	1.6	0.80722	D	1	B;B	0.33583	0.128;0.418	B;B	0.39617	0.106;0.305	T	0.03268	-1.1054	10	0.52906	T	0.07	.	18.2509	0.90002	0.0:0.0:1.0:0.0	.	333;954	Q06190-2;Q06190	.;P2R3A_HUMAN	E	954;218;333	ENSP00000264977:G954E;ENSP00000419344:G218E;ENSP00000334748:G333E	ENSP00000264977:G954E	G	+	2	0	PPP2R3A	137292133	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.701000	0.68325	2.632000	0.89209	0.650000	0.86243	GGA	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000357232.1		+	ENST00000264977.3	Missense_Mutation	SNP	3 : 135809443 - 135809443 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	217	8
PRR23C	389152	broad.mit.edu	37	3	138762803	138762803	+	Silent	SNP	A	A	G			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:138762803A>G	ENST00000413199.1	-	1	931	c.660T>C	c.(658-660)caT>caC	p.H220H	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.H220H	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	220	Pro-rich.									breast(2)|lung(7)|skin(2)	11						GCTCCAGAAGATGGAATTCCA	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	60	58			NA	NA	3		NA											NA				138762803		692	1591	2283	SO:0001819	synonymous_variant				CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701	389152	389152			37173	protein-coding gene	gene with protein product					NA		Standard	NM_001134657	NM_001134657	NA	Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.660T>C	3.37:g.138762803A>G		NA		37	CCDS46924.1																																																																																			PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361502.1		-	ENST00000413199.1	Silent	SNP	3 : 138762803 - 138762803 G PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	127	12
PRR23C	389152	broad.mit.edu	37	3	138762804	138762804	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:138762804T>C	ENST00000413199.1	-	1	930	c.659A>G	c.(658-660)cAt>cGt	p.H220R	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Missense_Mutation_p.H220R	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	220	Pro-rich.									breast(2)|lung(7)|skin(2)	11						CTCCAGAAGATGGAATTCCAG	0.677		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	60	58			NA	NA	3		NA											NA				138762804		692	1591	2283	SO:0001583	missense				CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701	389152	389152			37173	protein-coding gene	gene with protein product					NA		Standard	NM_001134657	NM_001134657	NA	Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.659A>G	3.37:g.138762804T>C	ENSP00000396648:p.His220Arg	NA		37	CCDS46924.1	.	.	.	.	.	.	.	.	.	.	T	7.678	0.688350	0.14973	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.52	0.94	0.19513	.	0.790513	0.11094	N	0.600421	T	0.38401	0.1039	L	0.38531	1.155	0.09310	N	1	D	0.63880	0.993	P	0.60345	0.873	T	0.17349	-1.0372	9	0.35671	T	0.21	.	3.9443	0.09341	0.0:0.1175:0.2139:0.6686	.	220	Q6ZRP0	PR23C_HUMAN	R	220	.	ENSP00000396648:H220R	H	-	2	0	PRR23C	140245494	0.002000	0.14202	0.001000	0.08648	0.214000	0.24535	0.784000	0.26816	0.193000	0.20303	0.374000	0.22700	CAT	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361502.1		-	ENST00000413199.1	Missense_Mutation	SNP	3 : 138762804 - 138762804 C PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	128	12
RBM27	54439	broad.mit.edu	37	5	145609322	145609322	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr5:145609322T>A	ENST00000265271.5	+	5	604	c.438T>A	c.(436-438)taT>taA	p.Y146*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.Y146*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	146	Arg-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGAGACTATGACCGGTACT	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													180	173	175			NA	NA	5		NA											NA				145609322		1568	3582	5150	SO:0001587	stop_gained			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009	54439	54439		Zinc fingers, CCCH-type domain containing, RNA binding motif (RRM) containing	29243	protein-coding gene	gene with protein product	acidic rich RS domain containing 1				NA	10718198, 15741184	Standard	XM_291128	NM_018989	NA	Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.438T>A	5.37:g.145609322T>A	ENSP00000265271:p.Tyr146*	NA	Q8IYW9	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	T	36	5.909986	0.97093	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.54	-1.09	0.09904	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7226	11.531	0.50610	0.0:0.3843:0.0:0.6157	.	.	.	.	X	146	.	ENSP00000265271:Y146X	Y	+	3	2	RBM27	145589515	0.983000	0.35010	0.997000	0.53966	0.994000	0.84299	-0.008000	0.12788	-0.170000	0.10816	-0.256000	0.11100	TAT	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000373420.1		+	ENST00000265271.5	Nonsense_Mutation	SNP	5 : 145609322 - 145609322 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	842	27
RELB	5971	broad.mit.edu	37	19	45540789	45540789	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:45540789C>T	ENST00000221452.8	+	12	1631	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	RELB_ENST00000505236.1_Missense_Mutation_p.T491M|RELB_ENST00000540120.1_Missense_Mutation_p.T494M	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	494						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TACGACCCTACGGCCCCCACA	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	MET/THR	0,4064		0,0,2032	29	32	31		1481	3.9	0	19		31	11,8353		0,11,4171	yes	missense	RELB	NM_006509.3	81	0,11,6203	TT,TC,CC	NA	0.1315,0.0,0.0885	benign	494/580	45540789	11,12417	2032	4182	6214	SO:0001583	missense			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856	5971	5971			9956	protein-coding gene	gene with protein product		604758	v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)		NA	1531086	Standard		NM_006509	NA	Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1481C>T	19.37:g.45540789C>T	ENSP00000221452:p.Thr494Met	NA	Q6GTX7|Q9UEI7	37	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	C	7.025	0.559425	0.13436	0.0	0.001315	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.47528	0.84;0.84;0.84	3.88	3.88	0.44766	.	0.606233	0.14786	N	0.298505	T	0.21103	0.0508	N	0.08118	0	0.09310	N	1	P	0.42337	0.776	B	0.28465	0.09	T	0.05194	-1.0900	10	0.45353	T	0.12	2.7014	9.0951	0.36634	0.2185:0.7815:0.0:0.0	.	491	D6R992	.	M	494;494;491	ENSP00000221452:T494M;ENSP00000445542:T494M;ENSP00000423287:T491M	ENSP00000221452:T494M	T	+	2	0	RELB	50232629	0.008000	0.16893	0.037000	0.18230	0.064000	0.16182	2.466000	0.45084	2.456000	0.83038	0.462000	0.41574	ACG	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367361.2		+	ENST00000221452.8	Missense_Mutation	SNP	19 : 45540789 - 45540789 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	361	62
ROBO3	64221	broad.mit.edu	37	11	124740162	124740162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr11:124740162C>T	ENST00000397801.1	+	5	1060	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C	ROBO3_ENST00000538940.1_Missense_Mutation_p.R268C	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	290	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCTCGTCTACGCTGGCGCAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	61	60			NA	NA	11		NA											NA				124740162		1977	4151	6128	SO:0001583	missense			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134	64221	64221		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	13433	protein-coding gene	gene with protein product		608630	roundabout (axon guidance receptor, Drosophila) homolog 3, horizontal gaze palsy with progressive scoliosis	HGPPS	NA	15105459	Standard	XM_370663	NM_022370	NA	Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.868C>T	11.37:g.124740162C>T	ENSP00000380903:p.Arg290Cys	NA		37	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	15.80	2.941732	0.53079	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.68025	-0.3;-0.3	4.92	3.0	0.34707	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.673568	0.12241	N	0.486465	T	0.79907	0.4527	M	0.69823	2.125	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.77846	-0.2436	10	0.62326	D	0.03	.	13.6739	0.62443	0.282:0.718:0.0:0.0	.	290	Q96MS0	ROBO3_HUMAN	C	290;268	ENSP00000380903:R290C;ENSP00000441797:R268C	ENSP00000380903:R290C	R	+	1	0	ROBO3	124245372	0.461000	0.25783	0.033000	0.17914	0.387000	0.30353	2.073000	0.41519	0.575000	0.29434	-0.475000	0.04921	CGC	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000387091.1		+	ENST00000397801.1	Missense_Mutation	SNP	11 : 124740162 - 124740162 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	218	49
SLC26A1	10861	broad.mit.edu	37	4	985143	985143	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr4:985143T>A	ENST00000361661.2	-	3	726	c.349A>T	c.(349-351)Acc>Tcc	p.T117S	IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398520.2_Missense_Mutation_p.T117S|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398516.2_Missense_Mutation_p.T117S	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	117						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGCCGTGAGGTGCCCATGAGG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	126	128			NA	NA	4		NA											NA				985143		2203	4300	6503	SO:0001583	missense			AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217	10861	10861		Solute carriers	10993	protein-coding gene	gene with protein product		610130	solute carrier family 26 (sulfate transporter), member 1		NA		Standard	NM_022042, NM_134425	NM_213613	NA	Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.349A>T	4.37:g.985143T>A	ENSP00000354721:p.Thr117Ser	NA	A8K9N2|Q7Z5R3	37	CCDS33934.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.664835	0.67700	.	.	ENSG00000145217	ENST00000398520;ENST00000361661;ENST00000398516	D;D;D	0.90133	-2.62;-2.62;-2.62	5.3	5.3	0.74995	Sulphate anion transporter, conserved site (1);	0.046080	0.85682	N	0.000000	D	0.91848	0.7420	L	0.35341	1.055	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.70935	0.951;0.971	D	0.92520	0.6024	10	0.62326	D	0.03	.	13.18	0.59649	0.0:0.0:0.0:1.0	.	117;117	Q9H2B4;Q96BK0	S26A1_HUMAN;.	S	117	ENSP00000381532:T117S;ENSP00000354721:T117S;ENSP00000381528:T117S	ENSP00000354721:T117S	T	-	1	0	SLC26A1	975143	1.000000	0.71417	0.998000	0.56505	0.193000	0.23685	7.869000	0.87170	1.995000	0.58328	0.379000	0.24179	ACC	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358783.1		-	ENST00000361661.2	Missense_Mutation	SNP	4 : 985143 - 985143 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	791	169
SLC6A13	6540	broad.mit.edu	37	12	347142	347142	+	Silent	SNP	G	G	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr12:347142G>T	ENST00000343164.4	-	5	565	c.513C>A	c.(511-513)tcC>tcA	p.S171S	SLC6A13_ENST00000445055.2_Silent_p.S79S	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	171					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TACCATTCAGGGAGCCGTTGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													167	142	151			NA	NA	12		NA											NA				347142		2203	4300	6503	SO:0001819	synonymous_variant			U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379	6540	6540		Solute carriers	11046	protein-coding gene	gene with protein product	GABA transporter 2	615097	solute carrier family 6 (neurotransmitter transporter, GABA), member 13		NA		Standard	NM_016615	NM_001243392	NA	Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.513C>A	12.37:g.347142G>T		NA	Q8TCC2	37	CCDS8502.1																																																																																			SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397801.1		-	ENST00000343164.4	Silent	SNP	12 : 347142 - 347142 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	1507	1246
SMG9	56006	broad.mit.edu	37	19	44254784	44254784	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:44254784C>T	ENST00000601170.1	-	2	424	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	SMG9_ENST00000270066.6_Missense_Mutation_p.R37Q			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	37					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						GTCCCTCTCCCGACCACCAGG	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	66			NA	NA	19		NA											NA				44254784		1964	4139	6103	SO:0001583	missense			BC008869	CCDS33043.2	19q13.31	2013-07-02	2013-07-02	2011-06-21	ENSG00000105771	ENSG00000105771	56006	56006			25763	protein-coding gene	gene with protein product		613176	chromosome 19 open reading frame 61, smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)	C19orf61	NA	11230166, 19417104	Standard	NM_019108	NM_019108	NA	Approved	FLJ12886	uc002oxj.2	Q9H0W8	OTTHUMG00000150337	ENST00000601170.1:c.110G>A	19.37:g.44254784C>T	ENSP00000471398:p.Arg37Gln	NA	O60429|Q9H9A9	37		.	.	.	.	.	.	.	.	.	.	C	36	5.767454	0.96914	.	.	ENSG00000105771	ENST00000270066	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	T	0.66636	0.2809	L	0.27053	0.805	0.52501	D	0.999951	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.968	T	0.68330	-0.5437	8	0.66056	D	0.02	0.8762	17.8571	0.88767	0.0:1.0:0.0:0.0	.	37;37	Q9H0W8-2;Q9H0W8	.;SMG9_HUMAN	Q	37	.	ENSP00000270066:R37Q	R	-	2	0	SMG9	48946624	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.411000	0.73298	2.826000	0.97356	0.561000	0.74099	CGG	SMG9-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000463586.1		-	ENST00000601170.1	Missense_Mutation	SNP	19 : 44254784 - 44254784 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	644	124
TMEM108	66000	broad.mit.edu	37	3	133099793	133099793	+	Missense_Mutation	SNP	G	G	A	rs149789292		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr3:133099793G>A	ENST00000515826.1	+	3	1361	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	TMEM108_ENST00000393130.3_Missense_Mutation_p.R413Q|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.R413Q			Q6UXF1	TM108_HUMAN	transmembrane protein 108	413						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGACCGACCGGGTGCCCAGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	51	55	54		1238,1238	3.7	0.6	3	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TMEM108	NM_001136469.1,NM_023943.2	43,43	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	413/576,413/576	133099793	1,13005	2203	4300	6503	SO:0001583	missense			AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868	66000	66000			28451	protein-coding gene	gene with protein product	cancer/testis antigen 124				NA	11214970	Standard	NM_023943	XM_005247726	NA	Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000515826.1:c.1238G>A	3.37:g.133099793G>A	ENSP00000423338:p.Arg413Gln	NA	D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	37		.	.	.	.	.	.	.	.	.	.	G	17.13	3.310896	0.60414	0.0	1.16E-4	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.51574	0.74;0.74;0.7	3.66	3.66	0.41972	.	0.106801	0.41294	D	0.000917	T	0.62829	0.2460	M	0.62723	1.935	0.28759	N	0.901037	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.946	T	0.57353	-0.7826	10	0.31617	T	0.26	-14.3165	14.0755	0.64887	0.0:0.0:1.0:0.0	.	413;413	E9PB58;Q6UXF1	.;TM108_HUMAN	Q	413	ENSP00000324651:R413Q;ENSP00000376838:R413Q;ENSP00000423338:R413Q	ENSP00000324651:R413Q	R	+	2	0	TMEM108	134582483	1.000000	0.71417	0.581000	0.28614	0.634000	0.38068	3.522000	0.53480	2.048000	0.60808	0.561000	0.74099	CGG	TMEM108-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000356910.1		+	ENST00000515826.1	Missense_Mutation	SNP	3 : 133099793 - 133099793 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	404	84
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83	71	75	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG	NA	0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510	7157	7157			11998	protein-coding gene	gene with protein product	Li-Fraumeni syndrome	191170			NA	6396087, 3456488, 2047879	Standard	NM_000546	NM_001126115	NA	Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000420246.2:c.844C>T	17.37:g.7577094G>A	ENSP00000391127:p.Arg282Trp	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577094 - 7577094 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	215	51
TRPM6	140803	broad.mit.edu	37	9	77416900	77416900	+	Silent	SNP	C	C	T			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr9:77416900C>T	ENST00000360774.1	-	16	2160	c.1923G>A	c.(1921-1923)gcG>gcA	p.A641A	TRPM6_ENST00000376864.4_Silent_p.A641A|TRPM6_ENST00000361255.3_Silent_p.A636A|TRPM6_ENST00000449912.2_Silent_p.A636A|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000451710.3_Silent_p.A641A	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	641					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGAGGATACACGCAATCACGG	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,	0,4406		0,0,2203	146	122	130		1908,1908,1923	-6.3	0.1	9		130	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,,	636/2018,636/2018,641/2023	77416900	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121	140803	140803		Voltage-gated ion channels / Transient receptor potential cation channels	17995	protein-coding gene	gene with protein product		607009	hypomagnesemia, secondary hypocalcemia	HOMG, HSH	NA	10021370, 12032570, 16382100	Standard	NM_017662	NM_017662	NA	Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1923G>A	9.37:g.77416900C>T		NA	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	37	CCDS6647.1																																																																																			TRPM6-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052693.1		-	ENST00000360774.1	Silent	SNP	9 : 77416900 - 77416900 T PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	402	95
TRPS1	7227	broad.mit.edu	37	8	116427120	116427120	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr8:116427120G>C	ENST00000395715.3	-	7	3593	c.3016C>G	c.(3016-3018)Cag>Gag	p.Q1006E	TRPS1_ENST00000220888.5_Missense_Mutation_p.Q993E|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q997E|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q747E	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	993	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATTTCTCTCTGGTGACTTTCA	0.502		NA							Langer-Giedion syndrome					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													170	161	164			NA	NA	8		NA											NA				116427120		1932	4143	6075	SO:0001583	missense	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447	7227	7227		GATA zinc finger domain containing, Zinc fingers, C2H2-type	12340	protein-coding gene	gene with protein product		604386			NA	8530105, 10615131, 10647898	Standard	NM_014112	NM_001282903	NA	Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000395715.3:c.3016C>G	8.37:g.116427120G>C	ENSP00000379065:p.Gln1006Glu	NA	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	37	CCDS6318.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.33|12.33	1.907042|1.907042	0.33628|0.33628	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000518018|ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276	.|D;D;D;D	.|0.98455	.|-4.94;-4.91;-4.9;-4.91	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	.|0.171175	.|0.41001	.|D	.|0.000965	D|D	0.95478|0.95478	0.8531|0.8531	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.16396	.|0.017;0.01;0.017	.|B;B;B	.|0.20767	.|0.031;0.014;0.031	D|D	0.91061|0.91061	0.4885|0.4885	5|10	.|0.52906	.|T	.|0.07	.|.	20.0897|20.0897	0.97814|0.97814	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|997;993;1006	.|Q9UHF7-3;Q9UHF7;Q9UHF7-2	.|.;TRPS1_HUMAN;.	R|E	117|1006;993;747;997	.|ENSP00000379065:Q1006E;ENSP00000220888:Q993E;ENSP00000428910:Q747E;ENSP00000428680:Q997E	.|ENSP00000220888:Q993E	P|Q	-|-	2|1	0|0	TRPS1|TRPS1	116496296|116496296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.133000|7.133000	0.77259|0.77259	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	CCA|CAG	TRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286435.3		-	ENST00000395715.3	Missense_Mutation	SNP	8 : 116427120 - 116427120 C PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	752	39
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358		NA	Mis		CLL, MDS									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		21	21q22.3	7307	U2 small nuclear RNA auxiliary factor 1		L	57	Substitution - Missense(57)	haematopoietic_and_lymphoid_tissue(43)|lung(12)|endometrium(2)						G	PHE/SER,PHE/SER,	1,4405		0,1,2202	67	64	65		101,101,	5.5	1	21		65	0,8600		0,0,4300	no	missense,missense,utr-5	U2AF1	NM_001025203.1,NM_006758.2,NM_001025204.1	155,155,	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging,	34/241,34/241,	44524456	1,13005	2203	4300	6503	SO:0001583	missense			BC001177	CCDS13694.1, CCDS33574.1, CCDS42948.1	21q22.3	2014-09-17	2006-04-11		ENSG00000160201	ENSG00000160201	7307	7307		RNA binding motif (RRM) containing	12453	protein-coding gene	gene with protein product		191317	U2(RNU2) small nuclear RNA auxiliary factor binding protein, U2(RNU2) small nuclear RNA auxiliary factor 1	U2AFBP	NA	8660980, 7956352	Standard	NM_006758	NM_006758	NA	Approved	U2AF35, RNU2AF1, RN	uc002zdb.1	Q01081	OTTHUMG00000086836	ENST00000291552.4:c.101C>T	21.37:g.44524456G>A	ENSP00000291552:p.Ser34Phe	NA		37	CCDS13694.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.025187	0.93518	2.27E-4	0.0	ENSG00000160201	ENST00000380276;ENST00000291552	T;T	0.46063	0.88;0.88	5.47	5.47	0.80525	Zinc finger, CCCH-type (3);	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	H	0.96430	3.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.997;0.997	D	0.84864	0.0821	10	0.87932	D	0	-15.7954	19.3169	0.94218	0.0:0.0:1.0:0.0	.	34;34;34	Q69YM7;Q01081;Q701P4	.;U2AF1_HUMAN;.	F	34	ENSP00000369629:S34F;ENSP00000291552:S34F	ENSP00000291552:S34F	S	-	2	0	U2AF1	43397525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.864000	0.92294	2.560000	0.86352	0.563000	0.77884	TCT	U2AF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195541.1		-	ENST00000291552.4	Missense_Mutation	SNP	21 : 44524456 - 44524456 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	248	43
ZNF304	57343	broad.mit.edu	37	19	57868932	57868932	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:57868932G>A	ENST00000282286.5	+	3	1868	c.1695G>A	c.(1693-1695)ggG>ggA	p.G565G	ZNF304_ENST00000391705.3_Silent_p.G565G|ZNF304_ENST00000598744.1_Silent_p.G523G|ZNF304_ENST00000443917.2_Silent_p.G612G			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTGAATGTGGGAAGGCTTACA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	69	72			NA	NA	19		NA											NA				57868932		2203	4300	6503	SO:0001819	synonymous_variant			AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845	57343	57343		Zinc fingers, C2H2-type, -	13505	protein-coding gene	gene with protein product		613840			NA		Standard		XM_005259090	NA	Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.1695G>A	19.37:g.57868932G>A		NA		37	CCDS12950.1																																																																																			ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465785.1		+	ENST00000282286.5	Silent	SNP	19 : 57868932 - 57868932 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	324	50
ZSCAN18	65982	broad.mit.edu	37	19	58596649	58596649	+	Silent	SNP	G	G	A			TCGA-IB-7654-01A-11D-2154-08	TCGA-IB-7654-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	7b3a51bb-ac8d-4eac-83da-ba79f344e8b9	fe2cb0f6-348f-4e46-9c74-b7a193ebeff2	g.chr19:58596649G>A	ENST00000240727.6	-	7	1335	c.936C>T	c.(934-936)gaC>gaT	p.D312D	ZSCAN18_ENST00000421612.2_Silent_p.D176D|ZSCAN18_ENST00000600404.1_Silent_p.D368D|ZSCAN18_ENST00000601144.1_Silent_p.D312D	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	312					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGCAAGGGCGTCCCCAGGGG	0.751		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													7	10	9			NA	NA	19		NA											NA				58596649		1919	3885	5804	SO:0001819	synonymous_variant			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413	65982	65982		-, Zinc fingers, C2H2-type	21037	protein-coding gene	gene with protein product			zinc finger protein 447	ZNF447	NA		Standard	NM_023926	NM_001145542	NA	Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.936C>T	19.37:g.58596649G>A		NA	Q9BRK7|Q9H9A0	37	CCDS12971.1																																																																																			ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000466706.1		-	ENST00000240727.6	Silent	SNP	19 : 58596649 - 58596649 A PAAD-TCGA-IB-7654-Tumor-SM-2NW7E	159	39
