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
ARHGAP12	94134	broad.mit.edu	37	10	32143120	32143120	+	Silent	SNP	T	T	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:32143120T>C	ENST00000375250.5	-	5	1204	c.963A>G	c.(961-963)gaA>gaG	p.E321E	ARHGAP12_ENST00000344936.2_Silent_p.E321E|ARHGAP12_ENST00000375245.4_Intron|ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000396144.4_Silent_p.E321E	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	321					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGTAGTTTTCTTCCGATGAAA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													74	68	70			NA	NA	10		NA											NA				32143120		2203	4300	6503	SO:0001819	synonymous_variant			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322	94134	94134		Rho GTPase activating proteins, Pleckstrin homology (PH) domain containing	16348	protein-coding gene	gene with protein product		610577			NA	11854031	Standard		NM_001270695	NA	Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000375250.5:c.963A>G	10.37:g.32143120T>C		NA	B1ANY0|B1ANY1|B1ANY2|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	37	CCDS59215.1																																																																																			ARHGAP12-008	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047464.1		-	ENST00000375250.5	Silent	SNP	10 : 32143120 - 32143120 C PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	384	74
ARL5B	221079	broad.mit.edu	37	10	18961589	18961595	+	Frame_Shift_Del	DEL	ACTAGCT	ACTAGCT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	ACTAGCT	ACTAGCT	-	-	ACTAGCT	ACTAGCT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:18961589_18961595delACTAGCT	ENST00000377275.3	+	4	527_533	c.294_300delACTAGCT	c.(292-300)cgactagctfs	p.RLA98fs		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	98					small GTPase mediated signal transduction	intracellular	GTP binding			lung(1)|ovary(1)	2						ACAGGGAACGACTAGCTATTACAAAAG	0.309		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			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997	221079	221079		ADP-ribosylation factors-like, ADP-ribosylation factors	23052	protein-coding gene	gene with protein product		608909	ADP-ribosylation factor-like 8	ARL8	NA	12853149	Standard	NM_178815	XM_005252400	NA	Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.294_300delACTAGCT	10.37:g.18961589_18961595delACTAGCT	ENSP00000366487:p.Arg98fs	NA		37	CCDS7131.1																																																																																			ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047078.1		+	ENST00000377275.3	Frame_Shift_Del	DEL	10 : 18961589 - 18961595 - PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	507	43
BACH2	60468	broad.mit.edu	37	6	90661558	90661558	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:90661558C>T	ENST00000257749.4	-	7	974	c.267G>A	c.(265-267)ccG>ccA	p.P89P	BACH2_ENST00000343122.3_Silent_p.P89P|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Silent_p.P89P|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	89	BTB.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		ACTGTAACAGCGGCCCAAAGC	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	46	46			NA	NA	6		NA											NA				90661558		2202	4297	6499	SO:0001819	synonymous_variant			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182	60468	60468		BTB/POZ domain containing, basic leucine zipper proteins	14078	protein-coding gene	gene with protein product		605394			NA	10949928, 12829606	Standard	NM_021813	NM_001170794	NA	Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.267G>A	6.37:g.90661558C>T		NA	E1P518|Q59H70|Q5T793|Q9NTS5	37	CCDS5026.1																																																																																			BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041522.2		-	ENST00000257749.4	Silent	SNP	6 : 90661558 - 90661558 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	280	8
BRINP2	57795	broad.mit.edu	37	1	177199125	177199125	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:177199125C>T	ENST00000361539.4	+	2	425	c.113C>T	c.(112-114)gCg>gTg	p.A38V		NM_021165.2	NP_066988.1			bone morphogenetic protein/retinoic acid inducible neural-specific 2	38											NA						TCAGCCACGGCGGCTGCTGTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	32	30			NA	NA	1		NA											NA				177199125		2203	4298	6501	SO:0001583	missense				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797	57795	57795			13746	protein-coding gene	gene with protein product			family with sequence similarity 5, member B	FAM5B	NA	15193423	Standard	NM_021165	NM_021165	NA	Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.113C>T	1.37:g.177199125C>T	ENSP00000354481:p.Ala38Val	NA		37	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.292458	0.23564	.	.	ENSG00000198797	ENST00000361539	T	0.14766	2.48	5.41	4.4	0.53042	.	0.194829	0.32852	N	0.005567	T	0.04861	0.0131	N	0.03115	-0.41	0.31179	N	0.702305	B	0.13145	0.007	B	0.06405	0.002	T	0.30387	-0.9980	10	0.07644	T	0.81	-3.279	7.9245	0.29865	0.0:0.8443:0.0:0.1557	.	38	Q9C0B6	FAM5B_HUMAN	V	38	ENSP00000354481:A38V	ENSP00000354481:A38V	A	+	2	0	FAM5B	175465748	0.958000	0.32768	0.942000	0.38095	0.940000	0.58332	2.131000	0.42074	1.012000	0.39366	0.655000	0.94253	GCG	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000084599.1		+	ENST00000361539.4	Missense_Mutation	SNP	1 : 177199125 - 177199125 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	385	53
BRWD1	54014	broad.mit.edu	37	21	40650700	40650700	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:40650700G>A	ENST00000380800.3	-	10	1070	c.972C>T	c.(970-972)ggC>ggT	p.G324G	BRWD1_ENST00000333229.2_Silent_p.G324G|BRWD1_ENST00000342449.3_Silent_p.G324G			Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GCATTTGAACGCCTGGCCTAG	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(170;988 1986 4794 16843 39731)							NA				0													84	91	88			NA	NA	21		NA											NA				40650700		2203	4300	6503	SO:0001819	synonymous_variant			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658	54014	54014		WD repeat domain containing	12760	protein-coding gene	gene with protein product			chromosome 21 open reading frame 107, WD repeat domain 9	C21orf107, WDR9	NA		Standard	NM_033656	NM_033656	NA	Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000380800.3:c.972C>T	21.37:g.40650700G>A		NA	C9JK25|O43721|Q5R2V0|Q5R2V1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	37		.	.	.	.	.	.	.	.	.	.	G	10.30	1.312047	0.23821	.	.	ENSG00000185658	ENST00000455867	.	.	.	5.1	-9.33	0.00639	.	.	.	.	.	T	0.32436	0.0829	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40478	-0.9561	4	.	.	.	.	1.5457	0.02564	0.4764:0.1997:0.1196:0.2044	.	.	.	.	C	36	.	.	R	-	1	0	BRWD1	39572570	0.000000	0.05858	0.822000	0.32727	0.997000	0.91878	-2.790000	0.00767	-1.651000	0.01504	0.591000	0.81541	CGT	BRWD1-016	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000339983.1		-	ENST00000380800.3	Silent	SNP	21 : 40650700 - 40650700 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	844	154
CASKIN2	57513	broad.mit.edu	37	17	73497867	73497867	+	Silent	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:73497867G>T	ENST00000321617.3	-	18	3874	c.3288C>A	c.(3286-3288)ccC>ccA	p.P1096P	CASKIN2_ENST00000433559.2_Silent_p.P1014P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1096	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACCTGCTCCGGGCACCTTGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	54	50			NA	NA	17		NA											NA				73497867		2194	4266	6460	SO:0001819	synonymous_variant			AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303	57513	57513		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	18200	protein-coding gene	gene with protein product		612185			NA	12040031	Standard	NM_020753	NM_020753	NA	Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.3288C>A	17.37:g.73497867G>T		NA	B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	37	CCDS11723.1																																																																																			CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000447609.1		-	ENST00000321617.3	Silent	SNP	17 : 73497867 - 73497867 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	703	15
CEP350	9857	broad.mit.edu	37	1	180063129	180063129	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:180063129G>A	ENST00000367607.3	+	34	8307	c.7889G>A	c.(7888-7890)aGt>aAt	p.S2630N	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2630						centrosome|nucleus|spindle		p.S2630I(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTTAATAGAAGTAGAAGCCTT	0.388		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)											37	40	39			NA	NA	1		NA											NA				180063129		2203	4300	6503	SO:0001583	missense			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837	9857	9857			24238	protein-coding gene	gene with protein product	centrosome associated protein 350				NA	16314388, 15615782	Standard	NM_014810	NM_014810	NA	Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.7889G>A	1.37:g.180063129G>A	ENSP00000356579:p.Ser2630Asn	NA	O75068|Q8TDK3|Q8WY20	37	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.521005	0.00967	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.59083	0.29	2.15	0.983	0.19767	.	.	.	.	.	T	0.41282	0.1152	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23084	-1.0198	8	.	.	.	.	5.4385	0.16494	0.6897:0.0:0.3103:0.0	.	2630;2630	E7EU22;Q5VT06	.;CE350_HUMAN	N	2630;94	ENSP00000356579:S2630N	.	S	+	2	0	CEP350	178329752	0.000000	0.05858	0.551000	0.28230	0.817000	0.46193	0.141000	0.16076	0.258000	0.21686	-0.383000	0.06682	AGT	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085315.2		+	ENST00000367607.3	Missense_Mutation	SNP	1 : 180063129 - 180063129 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	215	8
CLEC4G	339390	broad.mit.edu	37	19	7796974	7796974	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:7796974C>T	ENST00000598081.1	-	1	117		c.e1+1		CLEC4G_ENST00000328853.5_Silent_p.R5R			Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	NA						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						ACTTGCTGTACCTGGTGGTGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(146;540 1807 3349 19438 30853)							NA				0													58	53	55			NA	NA	19		NA											NA				7796974		2203	4300	6503	SO:0001630	splice_region_variant			AY358431	CCDS12185.1	19p13.2	2010-04-27	2008-11-04			ENSG00000182566	339390	339390		C-type lectin domain containing	24591	protein-coding gene	gene with protein product			C-type lectin superfamily 4, member G		NA	12975309	Standard	NM_198492	NM_198492	NA	Approved	UNQ431, LSECtin	uc002mhp.4	Q6UXB4		ENST00000598081.1:c.408+1G>A	19.37:g.7796974C>T		NA		37																																																																																				CLEC4G-003	KNOWN	basic	processed_transcript	NA	protein_coding	OTTHUMT00000462542.1	Intron	-	ENST00000598081.1	Splice_Site	SNP	19 : 7796974 - 7796974 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	349	55
COL24A1	255631	broad.mit.edu	37	1	86372901	86372901	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:86372901C>T	ENST00000370571.2	-	28	3120	c.2754G>A	c.(2752-2754)ggG>ggA	p.G918G	COL24A1_ENST00000436319.1_Silent_p.G918G	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	918	Collagen-like 7.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GACCTTGACTCCCAGGTGGTC	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	88	88			NA	NA	1		NA											NA				86372901		1822	4072	5894	SO:0001819	synonymous_variant			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502	255631	255631		Collagens	20821	protein-coding gene	gene with protein product		610025			NA		Standard	NM_152890	NM_152890	NA	Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2754G>A	1.37:g.86372901C>T		NA	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	37	CCDS41353.1																																																																																			COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029335.4		-	ENST00000370571.2	Silent	SNP	1 : 86372901 - 86372901 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	623	86
CR1L	1379	broad.mit.edu	37	1	207867914	207867914	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207867914C>G	ENST00000508064.2	+	5	740	c.680C>G	c.(679-681)cCt>cGt	p.P227R	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	227						cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGCATTATACCTAACAAATGC	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													197	189	191			NA	NA	1		NA											NA				207867914		1891	4111	6002	SO:0001583	missense			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721	1379	1379		Complement system	2335	protein-coding gene	gene with protein product		605886			NA	2295627	Standard	XM_114735	NM_175710	NA	Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.680C>G	1.37:g.207867914C>G	ENSP00000421736:p.Pro227Arg	NA	Q32MC9|Q8NEU7	37	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	7.803	0.714144	0.15306	.	.	ENSG00000197721	ENST00000444269;ENST00000508064	T	0.35605	1.3	2.38	-0.917	0.10485	.	.	.	.	.	T	0.24890	0.0604	L	0.35644	1.08	0.09310	N	1	P	0.38800	0.648	B	0.39419	0.299	T	0.15780	-1.0425	9	0.35671	T	0.21	.	4.9771	0.14146	0.0:0.4127:0.0:0.5873	.	227	Q2VPA4	CR1L_HUMAN	R	227	ENSP00000421736:P227R	ENSP00000434864:P171R	P	+	2	0	CR1L	205934537	0.001000	0.12720	0.032000	0.17829	0.207000	0.24258	0.336000	0.19823	-0.069000	0.12931	0.298000	0.19748	CCT	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390247.1		+	ENST00000508064.2	Missense_Mutation	SNP	1 : 207867914 - 207867914 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	1610	290
CR2	1380	broad.mit.edu	37	1	207647654	207647654	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:207647654T>A	ENST00000367057.3	+	13	2498	c.2309T>A	c.(2308-2310)aTt>aAt	p.I770N	CR2_ENST00000367058.3_Missense_Mutation_p.I711N|CR2_ENST00000458541.2_Missense_Mutation_p.I684N|CR2_ENST00000367059.3_Missense_Mutation_p.I711N	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	840	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCAAAAAGATTCCACTTTGT	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													103	109	107			NA	NA	1		NA											NA				207647654		2203	4300	6503	SO:0001583	missense			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322	1380	1380		CD molecules, Complement system	2336	protein-coding gene	gene with protein product		120650			NA		Standard	NM_001877	NM_001006658	NA	Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367057.3:c.2309T>A	1.37:g.207647654T>A	ENSP00000356024:p.Ile770Asn	NA	Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	37	CCDS31007.1	.	.	.	.	.	.	.	.	.	.	T	11.38	1.622221	0.28889	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.66	0.325	0.15903	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.62392	0.2424	M	0.69823	2.125	0.09310	N	0.999998	P;P;P	0.48294	0.87;0.908;0.565	P;P;P	0.53006	0.632;0.715;0.568	T	0.51236	-0.8731	9	0.17832	T	0.49	.	2.5985	0.04860	0.1401:0.0791:0.2912:0.4896	.	711;711;770	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	N	711;770;711;684	ENSP00000356025:I711N;ENSP00000356024:I770N;ENSP00000356026:I711N;ENSP00000404222:I684N	ENSP00000356024:I770N	I	+	2	0	CR2	205714277	0.840000	0.29493	0.001000	0.08648	0.112000	0.19704	-0.039000	0.12124	-0.193000	0.10415	-0.336000	0.08194	ATT	CR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000088325.1		+	ENST00000367057.3	Missense_Mutation	SNP	1 : 207647654 - 207647654 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	520	18
CUBN	8029	broad.mit.edu	37	10	17026279	17026279	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:17026279C>A	ENST00000377833.4	-	30	4416		c.e30-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	NA					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCCATAGATCTAACATGGGA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													57	56	57			NA	NA	10		NA											NA				17026279		2203	4300	6503	SO:0001630	splice_region_variant			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611	8029	8029			2548	protein-coding gene	gene with protein product		602997		MGA1	NA	9572993, 9478979	Standard	NM_001081	NM_001081	NA	Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4351-1G>T	10.37:g.17026279C>A		NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547261	0.65311	.	.	ENSG00000107611	ENST00000377833	.	.	.	5.96	5.96	0.96718	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUBN	17066285	1.000000	0.71417	0.929000	0.37066	0.742000	0.42306	7.165000	0.77544	2.826000	0.97356	0.655000	0.94253	.	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1	Intron	-	ENST00000377833.4	Splice_Site	SNP	10 : 17026279 - 17026279 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	293	51
ENPP6	133121	broad.mit.edu	37	4	185033945	185033945	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:185033945G>A	ENST00000296741.2	-	6	1014	c.873C>T	c.(871-873)agC>agT	p.S291S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	291					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTTCCACTGTGCTCAGTTTGT	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													145	141	142			NA	NA	4		NA											NA				185033945		2203	4300	6503	SO:0001819	synonymous_variant			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303	133121	133121			23409	protein-coding gene	gene with protein product					NA		Standard	NM_153343	NM_153343	NA	Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.873C>T	4.37:g.185033945G>A		NA	Q96M57	37	CCDS3834.1																																																																																			ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000361428.1		-	ENST00000296741.2	Silent	SNP	4 : 185033945 - 185033945 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	633	122
FAM129C	199786	broad.mit.edu	37	19	17660273	17660273	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:17660273G>T	ENST00000335393.4	+	15	1918	c.1780G>T	c.(1780-1782)Gcc>Tcc	p.A594S	FAM129C_ENST00000595684.1_Missense_Mutation_p.A594S|FAM129C_ENST00000352727.3_Missense_Mutation_p.A558S|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.A527S|FAM129C_ENST00000601861.1_Missense_Mutation_p.A563S|FAM129C_ENST00000599164.1_Missense_Mutation_p.A563S|FAM129C_ENST00000332386.5_Missense_Mutation_p.A594S|FAM129C_ENST00000449408.2_Missense_Mutation_p.A320S	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	594										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GACCCTTGGTGCCAATGATGT	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	124	126			NA	NA	19		NA											NA				17660273		2203	4300	6503	SO:0001583	missense			AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483	199786	199786			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967			NA	12886250	Standard	NM_173544	NM_173544	NA	Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.1780G>T	19.37:g.17660273G>T	ENSP00000335040:p.Ala594Ser	NA	Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	37	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719856	0.30503	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000449408	T;T;T;T	0.46819	1.8;1.82;0.86;1.43	2.87	0.639	0.17747	.	0.762112	0.11046	N	0.605581	T	0.38904	0.1058	M	0.63428	1.95	0.09310	N	1	P;P;P;P	0.36909	0.573;0.573;0.573;0.573	B;B;B;B	0.38378	0.272;0.272;0.272;0.272	T	0.25187	-1.0139	10	0.11182	T	0.66	-4.5539	5.3444	0.16000	0.2787:0.0:0.7213:0.0	.	594;594;558;594	Q86XR2;Q86XR2-3;Q86XR2-4;Q86XR2-2	NIBL2_HUMAN;.;.;.	S	594;594;558;320	ENSP00000335040:A594S;ENSP00000333447:A594S;ENSP00000341067:A558S;ENSP00000394929:A320S	ENSP00000333447:A594S	A	+	1	0	FAM129C	17521273	0.005000	0.15991	0.002000	0.10522	0.082000	0.17680	0.151000	0.16283	0.270000	0.21984	0.557000	0.71058	GCC	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464206.1		+	ENST00000335393.4	Missense_Mutation	SNP	19 : 17660273 - 17660273 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	962	124
FANCD2	2177	broad.mit.edu	37	3	10106107	10106107	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:10106107C>T	ENST00000287647.3	+	22	2108	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	FANCD2_ENST00000383807.1_Missense_Mutation_p.P672L|FANCD2_ENST00000419585.1_Missense_Mutation_p.P672L|FANCD2_ENST00000383806.1_Missense_Mutation_p.P672L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	672					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGTGTTGTTCCGGAAGGGTAG	0.458		NA	D, Mis, N, F			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA			yes	Rec		Fanconi anaemia D2	3	3p26	2177	Fanconi anemia, complementation group D2		L	0													262	240	247			NA	NA	3		NA											NA				10106107		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554	2177	2177		Fanconi anemia, complementation groups	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD	NA	7581463, 11239453, 18475298	Standard		XM_005264946	NA	Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000287647.3:c.2015C>T	3.37:g.10106107C>T	ENSP00000287647:p.Pro672Leu	NA	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	37	CCDS2595.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654704	0.29425	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.58	4.65	0.58169	.	0.272563	0.42172	D	0.000754	T	0.31606	0.0802	L	0.46741	1.465	0.38805	D	0.955286	B;B	0.18610	0.016;0.029	B;B	0.11329	0.006;0.006	T	0.15954	-1.0419	10	0.27785	T	0.31	.	6.7806	0.23643	0.1764:0.7359:0.0:0.0877	.	672;672	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	L	672	ENSP00000287647:P672L;ENSP00000373318:P672L;ENSP00000373317:P672L;ENSP00000398754:P672L	ENSP00000287647:P672L	P	+	2	0	FANCD2	10081107	0.601000	0.26907	0.984000	0.44739	0.786000	0.44442	2.069000	0.41481	2.808000	0.96608	0.585000	0.79938	CCG	FANCD2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250562.2		+	ENST00000287647.3	Missense_Mutation	SNP	3 : 10106107 - 10106107 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	730	39
GLB1L2	89944	broad.mit.edu	37	11	134244879	134244879	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr11:134244879A>C	ENST00000535456.2	+	19	2026	c.1838A>C	c.(1837-1839)gAg>gCg	p.E613A	GLB1L2_ENST00000339772.7_Missense_Mutation_p.E613A|GLB1L2_ENST00000389881.3_Missense_Mutation_p.E613A|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	613					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		ATCGTTTTTGAGGAGACGATG	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	43	45			NA	NA	11		NA											NA				134244879		2201	4297	6498	SO:0001583	missense				CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328	89944	89944			25129	protein-coding gene	gene with protein product					NA	12975309	Standard	NM_138342	NM_138342	NA	Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1838A>C	11.37:g.134244879A>C	ENSP00000444628:p.Glu613Ala	NA	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	37	CCDS31724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.02|17.02	3.280796|3.280796	0.59758|0.59758	.|.	.|.	ENSG00000149328|ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881|ENST00000525089	D;D;D|.	0.95001|.	-3.58;-3.58;-3.58|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Galactose-binding domain-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86497|.	0.5947|.	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70016|.	0.967|.	D|.	0.90373|.	0.4382|.	10|.	0.87932|.	D|.	0|.	-36.4735|-36.4735	13.8558|13.8558	0.63527|0.63527	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	613|.	Q8IW92|.	GLBL2_HUMAN|.	A|C	613|551	ENSP00000344659:E613A;ENSP00000444628:E613A;ENSP00000374531:E613A|.	ENSP00000344659:E613A|.	E|X	+|+	2|3	0|0	GLB1L2|GLB1L2	133750089|133750089	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.192000|0.192000	0.23643|0.23643	6.939000|6.939000	0.75911|0.75911	2.001000|2.001000	0.58596|0.58596	0.482000|0.482000	0.46254|0.46254	GAG|TGA	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393629.2		+	ENST00000535456.2	Missense_Mutation	SNP	11 : 134244879 - 134244879 C PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	145	23
GPR183	1880	broad.mit.edu	37	13	99947840	99947840	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr13:99947840A>G	ENST00000376414.4	-	2	643	c.560T>C	c.(559-561)tTt>tCt	p.F187S	UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	187					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						AGTTTCTTCAAAGTTTGGATA	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	87	89			NA	NA	13		NA											NA				99947840		2203	4300	6503	SO:0001583	missense			L08177	CCDS9492.1	13q32.3	2012-08-21	2008-07-21	2008-07-21	ENSG00000169508	ENSG00000169508	1880	1880		GPCR / Class A : Orphans	3128	protein-coding gene	gene with protein product	EBV-induced G-protein coupled receptor 2	605741	Epstein-Barr virus induced gene 2 (lymphocyte-specific G protein-coupled receptor)	EBI2	NA	8383238	Standard	NM_004951	NM_004951	NA	Approved		uc001vog.3	P32249	OTTHUMG00000017263	ENST00000376414.4:c.560T>C	13.37:g.99947840A>G	ENSP00000365596:p.Phe187Ser	NA	B2R8N5|Q53F99|Q5JUH7	37	CCDS9492.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.213653	0.79352	.	.	ENSG00000169508	ENST00000376414	T	0.38401	1.14	5.76	5.76	0.90799	GPCR, rhodopsin-like superfamily (1);	0.053527	0.85682	D	0.000000	T	0.54111	0.1838	L	0.51422	1.61	0.58432	D	0.999999	D	0.76494	0.999	D	0.73380	0.98	T	0.50189	-0.8857	9	.	.	.	.	16.0843	0.81031	1.0:0.0:0.0:0.0	.	187	P32249	GP183_HUMAN	S	187	ENSP00000365596:F187S	.	F	-	2	0	GPR183	98745841	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.962000	0.93254	2.191000	0.70037	0.533000	0.62120	TTT	GPR183-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045582.2		-	ENST00000376414.4	Missense_Mutation	SNP	13 : 99947840 - 99947840 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	533	93
GRID1	2894	broad.mit.edu	37	10	87628834	87628834	+	Missense_Mutation	SNP	G	G	A	rs143353694		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:87628834G>A	ENST00000327946.7	-	6	969	c.884C>T	c.(883-885)aCg>aTg	p.T295M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	295						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GTTGTTCCTCGTGCATTTCTG	0.572		NA								Multiple Myeloma(13;0.14)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	MET/THR	0,4406		0,0,2203	211	160	177		884	4.6	1	10	dbSNP_134	177	3,8597	819.1+/-406.8	0,3,4297	yes	missense	GRID1	NM_017551.2	81	0,3,6500	AA,AG,GG	NA	0.0349,0.0,0.0231	benign	295/1010	87628834	3,13003	2203	4300	6503	SO:0001583	missense			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771	2894	2894		Ligand-gated ion channels / Glutamate receptors, ionotropic, Glutamate receptors	4575	protein-coding gene	gene with protein product		610659			NA		Standard	XM_043613	NM_017551	NA	Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.884C>T	10.37:g.87628834G>A	ENSP00000330148:p.Thr295Met	NA	B3KXD5|Q8IXT3	37	CCDS31236.1	.	.	.	.	.	.	.	.	.	.	A	13.04	2.117851	0.37339	0.0	3.49E-4	ENSG00000182771	ENST00000327946	D	0.82526	-1.62	5.71	4.58	0.56647	Extracellular ligand-binding receptor (1);	0.283290	0.48286	N	0.000183	T	0.50769	0.1635	N	0.00436	-1.5	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44697	-0.9311	10	0.15066	T	0.55	.	8.8037	0.34925	0.8007:0.0:0.1993:0.0	.	295	Q9ULK0	GRID1_HUMAN	M	295	ENSP00000330148:T295M	ENSP00000330148:T295M	T	-	2	0	GRID1	87618814	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	4.464000	0.60134	0.991000	0.38814	-0.254000	0.11334	ACG	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049148.3		-	ENST00000327946.7	Missense_Mutation	SNP	10 : 87628834 - 87628834 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	495	95
HSPA6	3310	broad.mit.edu	37	1	161495096	161495096	+	Silent	SNP	T	T	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:161495096T>G	ENST00000309758.4	+	1	1061	c.648T>G	c.(646-648)gcT>gcG	p.A216A	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	216					response to unfolded protein		ATP binding	p.A216A(1)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCATTGACGCTGGTGTCTTTG	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	endometrium(1)											45	48	47			NA	NA	1		NA											NA				161495096		2203	4300	6503	SO:0001819	synonymous_variant				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110	3310	3310		Heat shock proteins / HSP70	5239	protein-coding gene	gene with protein product		140555	heat shock 70kD protein 6 (HSP70B')		NA	1346391	Standard	NM_002155	NM_002155	NA	Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.648T>G	1.37:g.161495096T>G		NA	Q1HBA8|Q8IYK7|Q9BT95	37	CCDS1231.1																																																																																			HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083308.1		+	ENST00000309758.4	Silent	SNP	1 : 161495096 - 161495096 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	293	38
ITGA1	3672	broad.mit.edu	37	5	52235424	52235424	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:52235424C>T	ENST00000282588.6	+	25	3541	c.3083C>T	c.(3082-3084)gCa>gTa	p.A1028V	CTD-2175A23.1_ENST00000503559.1_RNA|CTD-2175A23.1_ENST00000505701.1_RNA	NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	1028					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTCTAGAATGCAAACTGCAGA	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	90	90			NA	NA	5		NA											NA				52235424		2203	4300	6503	SO:0001583	missense			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949	3672	3672		CD molecules, Integrins	6134	protein-coding gene	gene with protein product		192968			NA	8428973, 11937138	Standard	NM_181501	NM_181501	NA	Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.3083C>T	5.37:g.52235424C>T	ENSP00000282588:p.Ala1028Val	NA	B2RNU0	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	C	8.986	0.976553	0.18736	.	.	ENSG00000213949	ENST00000282588	T	0.43688	0.94	6.05	0.357	0.16079	Integrin alpha-2 (1);	0.925991	0.09267	N	0.825684	T	0.12347	0.0300	N	0.00583	-1.355	0.20489	N	0.999896	B	0.02656	0.0	B	0.04013	0.001	T	0.31194	-0.9952	10	0.13108	T	0.6	.	8.9331	0.35684	0.0:0.5162:0.0:0.4838	.	1028	P56199	ITA1_HUMAN	V	1028	ENSP00000282588:A1028V	ENSP00000282588:A1028V	A	+	2	0	ITGA1	52271181	0.062000	0.20869	0.366000	0.25914	0.548000	0.35241	0.078000	0.14761	0.099000	0.17552	0.650000	0.86243	GCA	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253855.3		+	ENST00000282588.6	Missense_Mutation	SNP	5 : 52235424 - 52235424 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	293	38
KIAA1755	85449	broad.mit.edu	37	20	36855620	36855620	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36855620C>T	ENST00000279024.4	-	7	2259	c.1988G>A	c.(1987-1989)cGg>cAg	p.R663Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	663										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAGAATAGCCCGGATAGAGGC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	43	44			NA	NA	20		NA											NA				36855620		2203	4300	6503	SO:0001583	missense			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633	85449	85449			29372	protein-coding gene	gene with protein product					NA	11214970	Standard	NM_001029864	NM_001029864	NA	Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1988G>A	20.37:g.36855620C>T	ENSP00000279024:p.Arg663Gln	NA	Q9C0A8	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474685	0.26511	.	.	ENSG00000149633	ENST00000279024;ENST00000373398;ENST00000435901	T;T	0.61158	0.13;1.2	4.53	0.919	0.19392	.	0.986535	0.08237	N	0.976570	T	0.36552	0.0971	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.21211	-1.0252	10	0.19590	T	0.45	.	6.2707	0.20953	0.0:0.4404:0.0:0.5596	.	663	Q5JYT7	K1755_HUMAN	Q	663;210;1	ENSP00000279024:R663Q;ENSP00000393503:R1Q	ENSP00000279024:R663Q	R	-	2	0	KIAA1755	36289034	0.204000	0.23447	0.000000	0.03702	0.000000	0.00434	1.432000	0.34936	0.215000	0.20761	-0.808000	0.03180	CGG	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079144.3		-	ENST00000279024.4	Missense_Mutation	SNP	20 : 36855620 - 36855620 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	179	24
KIAA1755	85449	broad.mit.edu	37	20	36859706	36859706	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr20:36859706C>T	ENST00000279024.4	-	5	2040	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	590										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGCAGGGGCCGCCCGGCCCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													46	44	44			NA	NA	20		NA											NA				36859706		2203	4300	6503	SO:0001583	missense			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633	85449	85449			29372	protein-coding gene	gene with protein product					NA	11214970	Standard	NM_001029864	NM_001029864	NA	Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1769G>A	20.37:g.36859706C>T	ENSP00000279024:p.Arg590Gln	NA	Q9C0A8	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812690	0.90707	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.68903	-0.36	4.97	4.02	0.46733	.	0.163457	0.27473	N	0.019219	T	0.79718	0.4494	M	0.90019	3.08	0.43579	D	0.995916	D	0.69078	0.997	P	0.54629	0.757	T	0.83267	-0.0045	10	0.54805	T	0.06	.	12.3865	0.55335	0.0:0.9191:0.0:0.0809	.	590	Q5JYT7	K1755_HUMAN	Q	590;137	ENSP00000279024:R590Q	ENSP00000279024:R590Q	R	-	2	0	KIAA1755	36293120	0.995000	0.38212	0.993000	0.49108	0.985000	0.73830	2.737000	0.47393	1.307000	0.44944	0.655000	0.94253	CGG	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079144.3		-	ENST00000279024.4	Missense_Mutation	SNP	20 : 36859706 - 36859706 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	120	27
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	171	50
LILRA3	11026	broad.mit.edu	37	19	54801963	54801963	+	Missense_Mutation	SNP	T	T	A	rs148109341	byFrequency	TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:54801963T>A	ENST00000391744.3	-	6	1032	c.1033A>T	c.(1033-1035)Act>Tct	p.T345S	LILRA3_ENST00000391745.1_Missense_Mutation_p.T426S|LILRA3_ENST00000251390.3_Missense_Mutation_p.T409S	NM_001172654.1	NP_001166125.1			leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	NA										NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGGGTGAGTCAGCAGGTAG	0.627		NA											T	42	0.02	NA	0.01	2184	0.06	0.9643	,	,	NA	0.0013	0.0013	NA	NA	0.0327	0.6077	LOWCOV,EXOME	NA	NA	0.0015	SNP								NA				0													96	85	89			NA	NA	19		NA											NA				54801963		2194	4182	6376	SO:0001583	missense			U91926		19q13.4	2013-01-11					NA	11026		Leukocyte immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6604	protein-coding gene	gene with protein product		604818			NA	9278324, 9548455	Standard		XM_006710242	NA	Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000391744.3:c.1033A>T	19.37:g.54801963T>A	ENSP00000375624:p.Thr345Ser	NA		37	CCDS54317.1	42	0.019230769230769232	0	0.0	5	0.013812154696132596	36	0.06293706293706294	1	0.0013192612137203166	T	0.011	-1.714207	0.00706	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00594	6.33;6.33;6.33	3.07	-0.533	0.11887	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.690718	0.11192	N	0.589796	T	0.00012	0.0000	N	0.00067	-2.295	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.38929	-0.9638	10	0.02654	T	1	.	4.2458	0.10670	0.6987:0.0:0.1191:0.1822	.	409;409	E7EU74;Q8N6C8	.;LIRA3_HUMAN	S	409;345;426	ENSP00000251390:T409S;ENSP00000375624:T345S;ENSP00000375625:T426S	ENSP00000251390:T409S	T	-	1	0	LILRA3	59493775	0.000000	0.05858	0.014000	0.15608	0.010000	0.07245	-0.298000	0.08265	-0.319000	0.08652	-1.860000	0.00561	ACT	LILRA3-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000140237.1		-	ENST00000391744.3	Missense_Mutation	SNP	19 : 54801963 - 54801963 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	64	6
LRP1B	53353	broad.mit.edu	37	2	141200116	141200116	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:141200116G>A	ENST00000389484.3	-	66	11342	c.10371C>T	c.(10369-10371)gaC>gaT	p.D3457D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3457	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTGGATCCTCGTCACAAACCC	0.463		NA								TSP Lung(27;0.18)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(99;50 2074 2507 20106)							NA				0													156	144	148			NA	NA	2		NA											NA				141200116		2203	4300	6503	SO:0001819	synonymous_variant			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702	53353	53353		Low density lipoprotein receptors	6693	protein-coding gene	gene with protein product	LRP-deleted in tumors	608766			NA	10766186	Standard	NM_018557	NM_018557	NA	Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10371C>T	2.37:g.141200116G>A		NA	Q8WY29|Q8WY30|Q8WY31	37	CCDS2182.1																																																																																			LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254736.2		-	ENST00000389484.3	Silent	SNP	2 : 141200116 - 141200116 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	556	92
MACF1	23499	broad.mit.edu	37	1	39950371	39950371	+	Silent	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:39950371G>A	ENST00000372915.3	+	96	21966	c.21879G>A	c.(21877-21879)ccG>ccA	p.P7293P	MACF1_ENST00000317713.7_Silent_p.P5335P|MACF1_ENST00000539005.1_Silent_p.P5205P|MACF1_ENST00000289893.4_Silent_p.P5843P|MACF1_ENST00000545844.1_Silent_p.P5335P|MACF1_ENST00000361689.2_Silent_p.P5335P|MACF1_ENST00000564288.1_Silent_p.P7460P|MACF1_ENST00000567887.1_Silent_p.P7497P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7293	C-terminal tail (By similarity).|Ser-rich.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTTCTTCCCCGGCCTCCACAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	99	96			NA	NA	1		NA											NA				39950371		2203	4300	6503	SO:0001819	synonymous_variant			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21879G>A	1.37:g.39950371G>A		NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.37|10.37	1.331374|1.331374	0.24167|0.24167	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925;ENST00000446276|ENST00000360115;ENST00000442046	.|.	.|.	.|.	6.03|6.03	-2.55|-2.55	0.06288|0.06288	.|.	.|.	.|.	.|.	.|.	T|T	0.39655|0.39655	0.1086|0.1086	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30357|0.30357	-0.9981|-0.9981	4|4	.|.	.|.	.|.	.|.	2.3493|2.3493	0.04280|0.04280	0.2315:0.3717:0.2762:0.1206|0.2315:0.3717:0.2762:0.1206	.|.	.|.	.|.	.|.	S|Q	4339;360|448;273	.|.	.|.	G|R	+|+	1|2	0|0	MACF1|MACF1	39722958|39722958	0.005000|0.005000	0.15991|0.15991	0.992000|0.992000	0.48379|0.48379	0.996000|0.996000	0.88848|0.88848	-1.287000|-1.287000	0.02785|0.02785	-0.376000|-0.376000	0.07943|0.07943	-0.290000|-0.290000	0.09829|0.09829	GGC|CGG	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Silent	SNP	1 : 39950371 - 39950371 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	734	108
MDM2	4193	broad.mit.edu	37	12	69218184	69218184	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:69218184C>G	ENST00000350057.5	+	4	307	c.307C>G	c.(307-309)Cac>Gac	p.H103D	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000258149.5_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000462284.1_Missense_Mutation_p.H134D|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258148.7_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000393412.3_Intron			Q00987	MDM2_HUMAN	MDM2 proto-oncogene, E3 ubiquitin protein ligase	128	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GAACAGGTGTCACCTTGAAGG	0.423		NA	A		sarcoma, glioma, colorectal, other									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		12	12q15	4193	Mdm2 p53 binding protein homolog		M, O, E, L	0													95	91	92			NA	NA	12		NA											NA				69218184		1835	4089	5924	SO:0001583	missense				CCDS8986.2, CCDS61189.1	12q13-q14	2014-06-26	2014-06-26		ENSG00000135679	ENSG00000135679	4193	4193			6973	protein-coding gene	gene with protein product		164785	mouse double minute 2, human homolog of; p53-binding protein, Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse), Mdm2 p53 binding protein homolog (mouse)		NA	1614537, 16905769	Standard	NM_006880	NM_002392	NA	Approved	HDM2, MGC5370	uc001sui.4	Q00987	OTTHUMG00000142827	ENST00000350057.5:c.307C>G	12.37:g.69218184C>G	ENSP00000266624:p.His103Asp	NA	A6NL51|A8K2S6|Q13226|Q13297|Q13298|Q13299|Q13300|Q13301|Q53XW0|Q71TW9|Q8WYJ1|Q8WYJ2|Q9UGI3|Q9UMT8	37		.	.	.	.	.	.	.	.	.	.	C	0.304	-0.971751	0.02215	.	.	ENSG00000135679	ENST00000462284;ENST00000544648;ENST00000311440;ENST00000311420;ENST00000539479;ENST00000393415;ENST00000393416;ENST00000350057	T;T;T	0.43688	1.54;0.94;1.54	5.65	3.79	0.43588	.	0.565311	0.20923	N	0.083253	T	0.20455	0.0492	N	0.08118	0	0.26660	N	0.971938	B;B;B;B	0.19331	0.0;0.023;0.035;0.0	B;B;B;B	0.14023	0.001;0.01;0.009;0.001	T	0.17258	-1.0375	9	.	.	.	-9.2634	8.905	0.35519	0.1483:0.7763:0.0:0.0755	.	83;128;128;134	Q00987-9;Q00987;Q8NDW2;Q00987-11	.;MDM2_HUMAN;.;.	D	134;83;128;89;128;128;159;103	ENSP00000417281:H134D;ENSP00000444430:H128D;ENSP00000266624:H103D	.	H	+	1	0	MDM2	67504451	0.104000	0.21937	0.032000	0.17829	0.219000	0.24729	1.031000	0.30165	0.833000	0.34828	0.585000	0.79938	CAC	MDM2-033	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000402665.1		+	ENST00000350057.5	Missense_Mutation	SNP	12 : 69218184 - 69218184 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	326	49
MFHAS1	9258	broad.mit.edu	37	8	8749703	8749703	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:8749703delG	ENST00000276282.6	-	1	1452	c.866delC	c.(865-867)cctfs	p.P289fs		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	289										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGCGCGGCAGGGAACTCCTC	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(103;1201 2045 17515 28966)							NA				0													26	29	28			NA	NA	8		NA											NA				8749703		2202	4300	6502	SO:0001589	frameshift_variant			AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324	9258	9258			16982	protein-coding gene	gene with protein product	leucine rich repeat containing 65, malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1	605352			NA	9973190	Standard	NM_004225	NM_004225	NA	Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.866delC	8.37:g.8749703delG	ENSP00000276282:p.Pro289fs	NA	Q96CI0	37	CCDS34844.1																																																																																			MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374724.2		-	ENST00000276282.6	Frame_Shift_Del	DEL	8 : 8749703 - 8749703 - PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	282	55
MTMR12	54545	broad.mit.edu	37	5	32235181	32235181	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr5:32235181G>A	ENST00000382142.3	-	14	1569	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	MTMR12_ENST00000280285.5_Missense_Mutation_p.P467S|MTMR12_ENST00000264934.5_Intron	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	467	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AATGCCGGGGGATGCTGGTGC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	56	56			NA	NA	5		NA											NA				32235181		2203	4300	6503	SO:0001583	missense			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712	54545	54545		Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins	18191	protein-coding gene	gene with protein product		606501	phosphatidylinositol-3-phosphate associated protein	PIP3AP	NA	11504939, 12495846	Standard	NM_019061	XM_005248313	NA	Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.1399C>T	5.37:g.32235181G>A	ENSP00000371577:p.Pro467Ser	NA	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	37	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097433	0.56075	.	.	ENSG00000150712	ENST00000280285;ENST00000382142	D;D	0.96619	-4.07;-4.07	5.12	3.3	0.37823	Myotubularin phosphatase domain (1);	0.281329	0.35903	N	0.002906	D	0.94430	0.8208	M	0.73753	2.245	0.80722	D	1	B;P	0.48503	0.116;0.911	B;B	0.39840	0.051;0.311	D	0.91776	0.5431	10	0.54805	T	0.06	.	9.7409	0.40418	0.0733:0.0:0.7865:0.1402	.	467;467	Q9C0I1-2;Q9C0I1	.;MTMRC_HUMAN	S	467	ENSP00000280285:P467S;ENSP00000371577:P467S	ENSP00000280285:P467S	P	-	1	0	MTMR12	32270938	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.051000	0.64257	0.529000	0.28599	0.462000	0.41574	CCC	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366579.1		-	ENST00000382142.3	Missense_Mutation	SNP	5 : 32235181 - 32235181 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	268	8
NEK10	152110	broad.mit.edu	37	3	27346443	27346443	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:27346443G>A	ENST00000429845.2	-	13	1185	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	NEK10_ENST00000341435.5_Missense_Mutation_p.R275C			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	275							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CAAAGTAGGCGCAGCAACTCC	0.502		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	3		NA											NA				27346443		1568	3582	5150	SO:0001583	missense			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491	152110	152110			18592	protein-coding gene	gene with protein product			NIMA (never in mitosis gene a)- related kinase 10		NA	15289607	Standard	NM_152534	NM_199347	NA	Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.823C>T	3.37:g.27346443G>A	ENSP00000395849:p.Arg275Cys	NA	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	37		.	.	.	.	.	.	.	.	.	.	G	14.46	2.541047	0.45280	.	.	ENSG00000163491	ENST00000341435;ENST00000396636	T	0.51071	0.72	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65647	0.2711	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.67608	-0.5627	10	0.87932	D	0	.	14.7031	0.69168	0.0717:0.0:0.9283:0.0	.	275	Q6ZWH5	NEK10_HUMAN	C	275	ENSP00000343847:R275C	ENSP00000343847:R275C	R	-	1	0	NEK10	27321447	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	4.640000	0.61368	2.695000	0.91970	0.650000	0.86243	CGC	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000438156.1		-	ENST00000429845.2	Missense_Mutation	SNP	3 : 27346443 - 27346443 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	136	6
NLRP2	55655	broad.mit.edu	37	19	55501388	55501388	+	Splice_Site	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr19:55501388A>G	ENST00000543010.1	+	9	2509		c.e9-1		NLRP2_ENST00000391721.4_Splice_Site|NLRP2_ENST00000538819.1_Splice_Site|NLRP2_ENST00000427260.2_Splice_Site|NLRP2_ENST00000263437.6_Splice_Site|NLRP2_ENST00000448584.2_Splice_Site|NLRP2_ENST00000537859.1_Splice_Site|NLRP2_ENST00000339757.7_Splice_Site	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	NA					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TTTCTCCCACAGGTTGGTGTC	0.517		NA											A	2	9e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	9e-04	0.9768	EXOME	NA	NA	2e-04	SNP								NA				0													87	79	82			NA	NA	19		NA											NA				55501388		2203	4300	6503	SO:0001630	splice_region_variant			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556	55655	55655		Nucleotide-binding domain and leucine rich repeat containing	22948	protein-coding gene	gene with protein product	nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2	609364	NACHT, leucine rich repeat and PYD containing 2	NALP2	NA	12563287, 11270363	Standard	NM_017852	NM_001174081	NA	Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.2367-1A>G	19.37:g.55501388A>G		NA	Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	37	CCDS12913.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	a	8.379	0.836995	0.16891	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	.	.	.	2.51	2.51	0.30379	.	.	.	.	.	.	.	.	.	.	.	0.37549	D	0.918615	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9916	0.24758	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NLRP2	60193200	0.776000	0.28616	0.108000	0.21378	0.127000	0.20565	3.149000	0.50655	1.407000	0.46875	0.529000	0.55759	.	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000396152.1	Intron	+	ENST00000543010.1	Splice_Site	SNP	19 : 55501388 - 55501388 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	312	56
NR6A1	2649	broad.mit.edu	37	9	127316820	127316820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr9:127316820G>A	ENST00000487099.2	-	3	329	c.172C>T	c.(172-174)Cga>Tga	p.R58*	NR6A1_ENST00000344523.4_Nonsense_Mutation_p.R58*|NR6A1_ENST00000416460.2_Nonsense_Mutation_p.R54*|NR6A1_ENST00000373584.3_Nonsense_Mutation_p.R54*	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	58					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						AGACAGGTTCGTTGTTCAGCC	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(192;272 2884 6208 20560)							NA				0													94	87	90			NA	NA	9		NA											NA				127316820		2203	4300	6503	SO:0001587	stop_gained			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200	2649	2649		Nuclear hormone receptors	7985	protein-coding gene	gene with protein product		602778		GCNF	NA	9134503, 8982251	Standard		NM_001489	NA	Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.172C>T	9.37:g.127316820G>A	ENSP00000420267:p.Arg58*	NA	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	37	CCDS35137.1	.	.	.	.	.	.	.	.	.	.	G	32	5.168299	0.94768	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	.	.	.	5.46	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	12.3582	0.55188	0.0:0.0:0.6932:0.3068	.	.	.	.	X	58;54;54;58;16	.	ENSP00000341135:R58X	R	-	1	2	NR6A1	126356641	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.424000	0.59868	1.256000	0.44068	0.563000	0.77884	CGA	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054043.4		-	ENST00000487099.2	Nonsense_Mutation	SNP	9 : 127316820 - 127316820 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	479	89
NUDT9	53343	broad.mit.edu	37	4	88370318	88370318	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr4:88370318T>A	ENST00000473942.1	+	5	527	c.405T>A	c.(403-405)aaT>aaA	p.N135K	NUDT9_ENST00000302174.4_Missense_Mutation_p.N185K|NUDT9_ENST00000515371.1_3'UTR	NM_198038.2	NP_932155.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	185						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		GCAGTGGAAATAAAATCATGC	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	95	95			NA	NA	4		NA											NA				88370318		2203	4299	6502	SO:0001583	missense			AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502	53343	53343		Nudix motif containing	8056	protein-coding gene	gene with protein product		606022			NA	11385575, 12427752	Standard		NM_024047	NA	Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000473942.1:c.405T>A	4.37:g.88370318T>A	ENSP00000421811:p.Asn135Lys	NA	Q8NBN1|Q8NCB9|Q8NG25	37	CCDS3621.1	.	.	.	.	.	.	.	.	.	.	T	7.271	0.607206	0.14002	.	.	ENSG00000170502	ENST00000302174;ENST00000512216;ENST00000473942;ENST00000440591	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.18	3.95	0.45737	NUDIX hydrolase domain (1);NUDIX hydrolase domain-like (1);	0.390200	0.31697	N	0.007215	T	0.08626	0.0214	L	0.34521	1.04	0.38231	D	0.941037	B;B	0.34200	0.144;0.441	B;B	0.30401	0.019;0.115	T	0.19289	-1.0310	10	0.09590	T	0.72	-20.4549	9.3747	0.38275	0.0:0.0829:0.0:0.9171	.	185;185	Q96KB3;Q9BW91	.;NUDT9_HUMAN	K	185;135;135;153	ENSP00000303575:N185K;ENSP00000424702:N135K;ENSP00000421811:N135K;ENSP00000410270:N153K	ENSP00000303575:N185K	N	+	3	2	NUDT9	88589342	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	1.139000	0.31504	0.878000	0.35920	0.460000	0.39030	AAT	NUDT9-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253036.3		+	ENST00000473942.1	Missense_Mutation	SNP	4 : 88370318 - 88370318 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	304	87
OR2M7	391196	broad.mit.edu	37	1	248487356	248487356	+	Missense_Mutation	SNP	C	C	T	rs145948434		TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:248487356C>T	ENST00000317965.2	-	1	543	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172L(1)|p.R172Q(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTATTTCCCGAGACCCACA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				2	Substitution - Missense(2)	lung(1)|skin(1)											178	185	183			NA	NA	1		NA											NA				248487356		2203	4298	6501	SO:0001583	missense			BK004486	CCDS31111.1	1q44	2012-08-09			ENSG00000177186	ENSG00000177186	391196	391196		GPCR / Class A : Olfactory receptors	19594	protein-coding gene	gene with protein product					NA		Standard	NM_001004691	NM_001004691	NA	Approved		uc010pzk.2	Q8NG81	OTTHUMG00000040461	ENST00000317965.2:c.515G>A	1.37:g.248487356C>T	ENSP00000324557:p.Arg172Gln	NA	B2RNL0|Q6IEX6	37	CCDS31111.1	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199628	0.22121	.	.	ENSG00000177186	ENST00000317965	T	0.00044	8.83	1.54	0.552	0.17230	GPCR, rhodopsin-like superfamily (1);	0.295108	0.18339	U	0.144258	T	0.00109	0.0003	L	0.43701	1.375	0.09310	N	1	B	0.31519	0.327	B	0.32583	0.148	T	0.21965	-1.0230	10	0.52906	T	0.07	.	3.5068	0.07693	0.0:0.4143:0.0:0.5857	.	172	Q8NG81	OR2M7_HUMAN	Q	172	ENSP00000324557:R172Q	ENSP00000324557:R172Q	R	-	2	0	OR2M7	246553979	0.002000	0.14202	0.390000	0.26220	0.131000	0.20780	0.708000	0.25719	0.845000	0.35118	0.184000	0.17185	CGG	OR2M7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000097357.1		-	ENST00000317965.2	Missense_Mutation	SNP	1 : 248487356 - 248487356 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	2008	345
OTUD6B	51633	broad.mit.edu	37	8	92097044	92097046	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	ATT	ATT	-	-	ATT	ATT	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:92097044_92097046delATT	ENST00000285420.4	+	7	1019_1021	c.920_922delATT	c.(919-924)cattat>cat	p.Y308del	OTUD6B_ENST00000404789.3_In_Frame_Del_p.Y177del	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	278										endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			TTAGGAGAACATTATAATTCGGT	0.276		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion				CCDS6253.2, CCDS69513.1	8q21.3	2013-01-21			ENSG00000155100	ENSG00000155100	51633	51633		OTU domain containing	24281	protein-coding gene	gene with protein product		612021			NA		Standard	NM_016023	NM_016023	NA	Approved	CGI-77, DUBA5	uc003yeu.4	Q8N6M0	OTTHUMG00000150758	ENST00000285420.4:c.920_922delATT	8.37:g.92097044_92097046delATT	ENSP00000285420:p.Tyr308del	NA	A8K6I1|Q9NTA4|Q9Y387	37	CCDS6253.2																																																																																			OTUD6B-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319968.1		+	ENST00000285420.4	In_Frame_Del	DEL	8 : 92097044 - 92097046 - PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	92	17
P4HA1	5033	broad.mit.edu	37	10	74806700	74806700	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:74806700C>G	ENST00000373008.2	-	8	1176	c.1060G>C	c.(1060-1062)Gac>Cac	p.D354H	P4HA1_ENST00000412021.2_Missense_Mutation_p.D354H|P4HA1_ENST00000307116.2_Missense_Mutation_p.D354H|P4HA1_ENST00000263556.3_Missense_Mutation_p.D354H|P4HA1_ENST00000440381.1_Missense_Mutation_p.D354H|P4HA1_ENST00000394890.2_Missense_Mutation_p.D354H			P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	354						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTTGCTAGGTCTTTGACGATT	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(147;367 2405 2662 52127)							NA				0													106	106	106			NA	NA	10		NA											NA				74806700		2203	4300	6503	SO:0001583	missense				CCDS7320.1, CCDS41537.1, CCDS44432.1	10q21.3-q23.1	2008-12-09	2008-12-09		ENSG00000122884	ENSG00000122884	5033	5033	1.14.11.2		8546	protein-coding gene	gene with protein product	collagen prolyl 4-hydroxylase alpha(I)	176710	procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide I	P4HA	NA	2556027	Standard	NM_000917	NM_001017962	NA	Approved	C-P4Halpha(I)	uc001jtg.3	P13674	OTTHUMG00000018449	ENST00000373008.2:c.1060G>C	10.37:g.74806700C>G	ENSP00000362099:p.Asp354His	NA	Q15082|Q15083|Q5VSQ5	37		.	.	.	.	.	.	.	.	.	.	C	16.17	3.047064	0.55110	.	.	ENSG00000122884	ENST00000307116;ENST00000373008;ENST00000412021;ENST00000394890;ENST00000263556;ENST00000440381	T;T;T;T;T;T	0.45668	0.9;0.9;0.9;0.9;0.9;0.89	5.94	5.94	0.96194	Prolyl 4-hydroxylase, alpha subunit (1);	0.204990	0.49916	D	0.000139	T	0.36082	0.0954	L	0.29908	0.895	0.44188	D	0.997006	B;P;P	0.41159	0.002;0.626;0.74	B;B;B	0.36534	0.006;0.227;0.227	T	0.18871	-1.0323	10	0.56958	D	0.05	-16.6435	20.369	0.98888	0.0:1.0:0.0:0.0	.	354;354;354	C9JL12;Q5VSQ6;P13674	.;.;P4HA1_HUMAN	H	354	ENSP00000307318:D354H;ENSP00000362099:D354H;ENSP00000411688:D354H;ENSP00000378353:D354H;ENSP00000263556:D354H;ENSP00000414464:D354H	ENSP00000263556:D354H	D	-	1	0	P4HA1	74476706	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.698000	0.61789	2.819000	0.97034	0.650000	0.86243	GAC	P4HA1-002	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000048602.1		-	ENST00000373008.2	Missense_Mutation	SNP	10 : 74806700 - 74806700 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	670	17
PARVB	29780	broad.mit.edu	37	22	44559738	44559738	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr22:44559738G>T	ENST00000404989.1	+	12	936	c.835G>T	c.(835-837)Gtc>Ttc	p.V279F	PARVB_ENST00000406477.3_Splice_Site_p.V349F|PARVB_ENST00000338758.7_Splice_Site_p.V316F	NM_001243385.1	NP_001230314.1	Q9HBI1	PARVB_HUMAN	parvin, beta	316	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TCCTTGGCAGGTCCACAATGT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													128	92	104			NA	NA	22		NA											NA				44559738		2203	4300	6503	SO:0001630	splice_region_variant			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677	29780	29780		Parvins	14653	protein-coding gene	gene with protein product	affixin	608121			NA	10810093, 11171322	Standard	NM_001003828	NM_001003828	NA	Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000404989.1:c.835-1G>T	22.37:g.44559738G>T		NA	B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	37	CCDS58808.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744371	0.69418	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000404989	D;D;D	0.95307	-3.67;-3.67;-3.67	5.42	3.34	0.38264	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.97065	0.9041	M	0.88842	2.985	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.995;0.992	D	0.96302	0.9222	9	.	.	.	-1.022	9.6282	0.39763	0.1707:0.0:0.8293:0.0	.	316;279;316;349	A6NG58;B0QYM8;Q9HBI1;Q9HBI1-2	.;.;PARVB_HUMAN;.	F	349;316;279	ENSP00000384515:V349F;ENSP00000342492:V316F;ENSP00000384353:V279F	.	V	+	1	0	PARVB	42891071	1.000000	0.71417	0.993000	0.49108	0.614000	0.37383	7.331000	0.79192	0.662000	0.31006	0.491000	0.48974	GTC	PARVB-003	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319519.1	Missense_Mutation	+	ENST00000404989.1	Splice_Site	SNP	22 : 44559738 - 44559738 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	338	8
PLEC	5339	broad.mit.edu	37	8	144992083	144992083	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:144992083G>A	ENST00000322810.4	-	32	12486	c.12317C>T	c.(12316-12318)gCg>gTg	p.A4106V	PLEC_ENST00000354958.2_Missense_Mutation_p.A3947V|PLEC_ENST00000398774.2_Missense_Mutation_p.A3937V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3996V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3955V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3992V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3969V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3969V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3973V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4106	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCCGCCTGCGCCTCCAGGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													27	32	31			NA	NA	8		NA											NA				144992083		2114	4221	6335	SO:0001583	missense			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209	5339	5339			9069	protein-coding gene	gene with protein product		601282	plectin 1, intermediate filament binding protein, 500kD, epidermolysis bullosa simplex 1 (Ogna), plectin 1, intermediate filament binding protein 500kDa	EBS1, PLEC1	NA	8633055, 8696340	Standard	NM_000445	XM_005250976	NA	Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12317C>T	8.37:g.144992083G>A	ENSP00000323856:p.Ala4106Val	NA	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	6.744	0.506057	0.12883	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.08	4.21	0.49690	.	0.000000	0.64402	U	0.000008	D	0.89410	0.6707	M	0.93854	3.465	0.54753	D	0.999989	D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;1.0;0.999;0.999;0.999;0.999	P;P;P;P;P;P;P;P	0.61940	0.833;0.833;0.833;0.896;0.833;0.833;0.833;0.833	D	0.91813	0.5461	10	0.66056	D	0.02	.	13.6323	0.62202	0.0753:0.0:0.9247:0.0	.	3996;3955;3947;4106;3937;3969;3973;3969	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	3969;3973;3969;3937;4106;3947;3955;3996;3992	ENSP00000344848:A3969V;ENSP00000350277:A3973V;ENSP00000346602:A3969V;ENSP00000381756:A3937V;ENSP00000323856:A4106V;ENSP00000347044:A3947V;ENSP00000348702:A3955V;ENSP00000388180:A3996V;ENSP00000434583:A3992V	ENSP00000323856:A4106V	A	-	2	0	PLEC	145064071	1.000000	0.71417	0.926000	0.36857	0.002000	0.02628	6.524000	0.73791	1.397000	0.46682	-0.237000	0.12165	GCG	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000383281.1		-	ENST00000322810.4	Missense_Mutation	SNP	8 : 144992083 - 144992083 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	208	30
PLEKHA8	84725	broad.mit.edu	37	7	30094411	30094411	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:30094411T>G	ENST00000396259.1	+	8	1205	c.883T>G	c.(883-885)Tgc>Ggc	p.C295G	PLEKHA8_ENST00000449726.1_Missense_Mutation_p.C295G|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.C295G|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.C295G			Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	295					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGACTCAAGTTGCTCTCCGGA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	149	151			NA	NA	7		NA											NA				30094411		2203	4300	6503	SO:0001583	missense			BC053990	CCDS5424.1, CCDS56473.1, CCDS75574.1	7p21-p11.2	2013-01-10			ENSG00000106086	ENSG00000106086	84725	84725		Pleckstrin homology (PH) domain containing	30037	protein-coding gene	gene with protein product		608639			NA	11001876	Standard	NM_032639	NM_001197027	NA	Approved	FAPP2, MGC3358	uc003taq.3	Q96JA3	OTTHUMG00000097751	ENST00000396259.1:c.883T>G	7.37:g.30094411T>G	ENSP00000379558:p.Cys295Gly	NA	Q7Z5V8|Q9BU78|Q9H274|Q9H8Z7	37		.	.	.	.	.	.	.	.	.	.	T	6.983	0.551408	0.13374	.	.	ENSG00000106086	ENST00000258679;ENST00000449726;ENST00000396257;ENST00000396259;ENST00000440706	.	.	.	5.63	1.47	0.22746	.	1.546830	0.03461	N	0.212180	T	0.19127	0.0459	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.0;0.0;0.002;0.0	T	0.16541	-1.0399	9	0.20046	T	0.44	-5.9383	0.163	0.00105	0.2309:0.1762:0.2132:0.3797	.	295;295;295;295	Q96JA3-2;Q96JA3;Q96JA3-3;B4DH00	.;PKHA8_HUMAN;.;.	G	295;295;295;295;321	.	ENSP00000258679:C295G	C	+	1	0	PLEKHA8	30060936	0.141000	0.22595	0.004000	0.12327	0.048000	0.14542	1.196000	0.32198	0.445000	0.26639	0.533000	0.62120	TGC	PLEKHA8-003	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000214984.1		+	ENST00000396259.1	Missense_Mutation	SNP	7 : 30094411 - 30094411 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	721	115
PRL	5617	broad.mit.edu	37	6	22292852	22292852	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr6:22292852C>T	ENST00000306482.1	-	3	745	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	76					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					AATGAACCCCCGGCCATGGGT	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	91	97			NA	NA	6		NA											NA				22292852		2203	4300	6503	SO:0001583	missense			D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179	5617	5617			9445	protein-coding gene	gene with protein product		176760			NA		Standard	NM_000948	NM_000948	NA	Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.227G>A	6.37:g.22292852C>T	ENSP00000302150:p.Arg76Gln	NA	Q15199|Q92996	37	CCDS4548.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178944	0.38511	.	.	ENSG00000172179	ENST00000306482;ENST00000438606	D	0.88431	-2.38	6.07	3.33	0.38152	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.249538	0.42294	N	0.000740	T	0.71290	0.3322	L	0.54863	1.705	0.09310	N	0.999997	B;P	0.43826	0.024;0.818	B;B	0.33799	0.023;0.17	T	0.61662	-0.7017	10	0.33940	T	0.23	2.0715	9.4164	0.38523	0.0:0.7519:0.1196:0.1286	.	76;77	P01236;Q5I0G2	PRL_HUMAN;.	Q	76;45	ENSP00000302150:R76Q	ENSP00000302150:R76Q	R	-	2	0	PRL	22400831	0.014000	0.17966	0.001000	0.08648	0.607000	0.37147	0.491000	0.22419	0.443000	0.26582	0.655000	0.94253	CGG	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000043327.1		-	ENST00000306482.1	Missense_Mutation	SNP	6 : 22292852 - 22292852 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	269	58
PSD	5662	broad.mit.edu	37	10	104173704	104173704	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:104173704C>T	ENST00000020673.5	-	5	1901	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PSD_ENST00000406432.1_Missense_Mutation_p.A459T	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	459	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCAAGTGGGGCGGGAGCTGGT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													36	44	42			NA	NA	10		NA											NA				104173704		2203	4298	6501	SO:0001583	missense			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915	5662	5662		Pleckstrin homology (PH) domain containing	9507	protein-coding gene	gene with protein product		602327	pleckstrin and Sec7 domain protein		NA	9417912	Standard		NM_002779	NA	Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1375G>A	10.37:g.104173704C>T	ENSP00000020673:p.Ala459Thr	NA	B1AKX7|D3DR87|Q15673|Q8IVG0	37	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.847795	0.51164	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.49720	0.77;0.77	4.78	4.78	0.61160	.	0.277670	0.29396	N	0.012273	T	0.31544	0.0800	L	0.27053	0.805	0.35766	D	0.820535	P	0.35551	0.509	B	0.20184	0.028	T	0.37314	-0.9711	10	0.19147	T	0.46	.	17.8792	0.88835	0.0:1.0:0.0:0.0	.	459	A5PKW4	PSD1_HUMAN	T	459;362;459	ENSP00000020673:A459T;ENSP00000384830:A459T	ENSP00000020673:A459T	A	-	1	0	PSD	104163694	1.000000	0.71417	0.995000	0.50966	0.271000	0.26615	5.034000	0.64152	2.224000	0.72417	0.555000	0.69702	GCC	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050041.2		-	ENST00000020673.5	Missense_Mutation	SNP	10 : 104173704 - 104173704 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	450	80
RP1L1	94137	broad.mit.edu	37	8	10470187	10470187	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:10470187C>G	ENST00000382483.3	-	4	1644	c.1421G>C	c.(1420-1422)aGg>aCg	p.R474T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	474					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCCGGGGTCCTGGGGCAGCA	0.701		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	30	28			NA	NA	8		NA											NA				10470187		1954	4118	6072	SO:0001583	missense			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638	94137	94137			15946	protein-coding gene	gene with protein product		608581			NA	12634863	Standard		NM_178857	NA	Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1421G>C	8.37:g.10470187C>G	ENSP00000371923:p.Arg474Thr	NA		37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778440	0.31502	.	.	ENSG00000183638	ENST00000382483	T	0.04917	3.53	4.99	4.99	0.66335	.	0.443402	0.16804	U	0.198863	T	0.05914	0.0154	N	0.24115	0.695	0.09310	N	1	P	0.48764	0.915	P	0.45232	0.474	T	0.38394	-0.9663	10	0.30854	T	0.27	-7.7844	8.8491	0.35188	0.0:0.8913:0.0:0.1087	.	474	A6NKC6	.	T	474	ENSP00000371923:R474T	ENSP00000371923:R474T	R	-	2	0	RP1L1	10507597	0.041000	0.20044	0.010000	0.14722	0.065000	0.16274	1.394000	0.34509	2.302000	0.77476	0.561000	0.74099	AGG	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000375673.1		-	ENST00000382483.3	Missense_Mutation	SNP	8 : 10470187 - 10470187 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	432	71
RSRC2	65117	broad.mit.edu	37	12	122999745	122999745	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr12:122999745C>T	ENST00000331738.7	-	6	777	c.632G>A	c.(631-633)aGa>aAa	p.R211K	RSRC2_ENST00000354654.2_Missense_Mutation_p.R163K	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	211										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GCTAAATCTTCTCGGCTTTTC	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													212	205	208			NA	NA	12		NA											NA				122999745		2203	4300	6503	SO:0001583	missense			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011	65117	65117			30559	protein-coding gene	gene with protein product					NA	17203224	Standard	NM_023012	NM_023012	NA	Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.632G>A	12.37:g.122999745C>T	ENSP00000330188:p.Arg211Lys	NA	Q6N040|Q6NW16|Q9H864	37	CCDS31920.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802748	0.70682	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.23950	2.35;1.88;1.88	5.63	5.63	0.86233	.	0.144353	0.64402	D	0.000005	T	0.21590	0.0520	L	0.27053	0.805	0.39090	D	0.961074	P;B;P;B	0.40834	0.73;0.397;0.73;0.397	B;B;B;B	0.38755	0.281;0.173;0.281;0.173	T	0.02909	-1.1095	10	0.20519	T	0.43	.	20.0442	0.97604	0.0:1.0:0.0:0.0	.	211;163;211;152	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4	.;.;RSRC2_HUMAN;.	K	211;163;211;152	ENSP00000330188:R211K;ENSP00000346678:R163K;ENSP00000343315:R152K	ENSP00000330188:R211K	R	-	2	0	RSRC2	121565698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.692000	0.54727	2.814000	0.96858	0.655000	0.94253	AGA	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395096.3		-	ENST00000331738.7	Missense_Mutation	SNP	12 : 122999745 - 122999745 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	425	74
SEMA4A	64218	broad.mit.edu	37	1	156128241	156128241	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:156128241C>T	ENST00000368285.3	+	5	693	c.426C>T	c.(424-426)tgC>tgT	p.C142C	SEMA4A_ENST00000368282.1_Silent_p.C142C|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Intron|SEMA4A_ENST00000355014.2_Silent_p.C142C|SEMA4A_ENST00000368286.2_Intron	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	142	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTACACCTGCGGCACCTTCG	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	,,,	2,4404	4.2+/-10.8	0,2,2201	195	181	186		426,426,,426	-6.4	0.9	1		186	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous	SEMA4A	NM_001193300.1,NM_001193301.1,NM_001193302.1,NM_022367.3	,,,	0,2,6501	TT,TC,CC	NA	0.0,0.0454,0.0154	,,,	142/762,142/762,,142/762	156128241	2,13004	2203	4300	6503	SO:0001819	synonymous_variant			AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189	64218	64218		Semaphorins	10729	protein-coding gene	gene with protein product		607292		SEMAB	NA	7748561	Standard	NM_022367	NM_022367	NA	Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.426C>T	1.37:g.156128241C>T		NA	B2RDH8|Q5TCI5|Q8WUA9	37	CCDS1132.1																																																																																			SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000039484.2		+	ENST00000368285.3	Silent	SNP	1 : 156128241 - 156128241 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	1090	176
SERPINA6	866	broad.mit.edu	37	14	94780770	94780770	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr14:94780770C>T	ENST00000341584.3	-	2	362	c.216G>A	c.(214-216)atG>atA	p.M72I		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	72					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TAGCTAAGGCCATGGAGATGC	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	85	85			NA	NA	14		NA											NA				94780770		2203	4300	6503	SO:0001583	missense			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099	866	866		Serine (or cysteine) peptidase inhibitors	1540	protein-coding gene	gene with protein product	corticosteroid binding globulin, transcortin	122500	serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	CBG	NA	3299377, 7912884, 24172014	Standard	NM_001756	NM_001756	NA	Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.216G>A	14.37:g.94780770C>T	ENSP00000342850:p.Met72Ile	NA	A8K456|Q7Z2Q9	37	CCDS9924.1	.	.	.	.	.	.	.	.	.	.	C	8.748	0.920648	0.17982	.	.	ENSG00000170099	ENST00000341584;ENST00000557225	D;D	0.87103	-2.21;-1.55	5.07	-2.48	0.06423	Serpin domain (3);	0.436617	0.21388	N	0.075360	T	0.72961	0.3526	L	0.38649	1.16	0.27668	N	0.946854	B	0.10296	0.003	B	0.14023	0.01	T	0.57551	-0.7792	10	0.09590	T	0.72	.	5.0497	0.14501	0.4235:0.254:0.0:0.3226	.	72	P08185	CBG_HUMAN	I	72	ENSP00000342850:M72I;ENSP00000452018:M72I	ENSP00000342850:M72I	M	-	3	0	SERPINA6	93850523	0.158000	0.22850	0.484000	0.27391	0.982000	0.71751	-0.421000	0.07053	-0.761000	0.04670	0.563000	0.77884	ATG	SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413065.1		-	ENST00000341584.3	Missense_Mutation	SNP	14 : 94780770 - 94780770 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	331	63
SKAP2	8935	broad.mit.edu	37	7	26883668	26883668	+	Translation_Start_Site	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr7:26883668G>A	ENST00000345317.2	-	4	601	c.288C>T	c.(286-288)gaC>gaT	p.D96D	SKAP2_ENST00000539623.1_De_novo_Start_OutOfFrame	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	96					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GGGCTTCATCGTCTTTATCAT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													196	193	194			NA	NA	7		NA											NA				26883668		2203	4300	6503	SO:0001819	synonymous_variant				CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020	8935	8935		Pleckstrin homology (PH) domain containing	15687	protein-coding gene	gene with protein product		605215	src family associated phosphoprotein 2	SCAP2	NA	9837776, 9755858	Standard		NM_003930	NA	Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.288C>T	7.37:g.26883668G>A		NA	Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	37	CCDS5400.1																																																																																			SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214128.1		-	ENST00000345317.2	Silent	SNP	7 : 26883668 - 26883668 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	1095	163
SLC6A20	54716	broad.mit.edu	37	3	45817325	45817325	+	Silent	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr3:45817325C>T	ENST00000358525.4	-	4	625	c.510G>A	c.(508-510)ccG>ccA	p.P170P	SLC6A20_ENST00000456124.2_Silent_p.P170P|SLC6A20_ENST00000353278.4_Silent_p.P170P	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	170					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGCACAGCGCCGGCTCCCACT	0.622		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	131	118	123		510,510	-4.2	0.7	3		123	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC6A20	NM_020208.3,NM_022405.3	,	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	,	170/593,170/556	45817325	1,13005	2203	4300	6503	SO:0001819	synonymous_variant			AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817	54716	54716		Solute carriers	30927	protein-coding gene	gene with protein product		605616			NA	9932288, 11352561	Standard	NM_020208	NM_022405	NA	Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.510G>A	3.37:g.45817325C>T		NA	A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	37	CCDS43077.1																																																																																			SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257318.3		-	ENST00000358525.4	Silent	SNP	3 : 45817325 - 45817325 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	625	118
SON	6651	broad.mit.edu	37	21	34925124	34925124	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr21:34925124C>T	ENST00000381679.4	+	3	3615	c.3587C>T	c.(3586-3588)cCt>cTt	p.P1196L	SON_ENST00000290239.6_Missense_Mutation_p.P1196L|SON_ENST00000356577.4_Missense_Mutation_p.P1196L|SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.P1196L			P18583	SON_HUMAN	SON DNA binding protein	1196					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AATACTTGGCCTACAGAGGTG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	119	118			NA	NA	21		NA											NA				34925124		2203	4300	6503	SO:0001583	missense			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140	6651	6651		G patch domain containing	11183	protein-coding gene	gene with protein product	NRE-binding protein, negative regulatory element-binding protein, Bax antagonist selected in Saccharomyces 1	182465		C21orf50	NA	8318737, 21551269	Standard	NM_138927	NM_032195	NA	Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000381679.4:c.3587C>T	21.37:g.34925124C>T	ENSP00000371095:p.Pro1196Leu	NA	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	37		.	.	.	.	.	.	.	.	.	.	C	15.46	2.840064	0.51057	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.12672	2.85;2.84;2.83;2.66	5.42	5.42	0.78866	.	0.627323	0.14275	N	0.329894	T	0.15522	0.0374	L	0.40543	1.245	0.19775	N	0.999954	P;P;B;P;P	0.49253	0.804;0.872;0.015;0.804;0.921	B;B;B;B;B	0.40864	0.288;0.139;0.014;0.288;0.342	T	0.10989	-1.0606	10	0.72032	D	0.01	.	16.7237	0.85416	0.0:1.0:0.0:0.0	.	1196;1196;877;1196;1196	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	L	1196	ENSP00000348984:P1196L;ENSP00000290239:P1196L;ENSP00000300278:P1196L;ENSP00000371095:P1196L	ENSP00000290239:P1196L	P	+	2	0	SON	33846994	0.862000	0.29867	0.893000	0.35052	0.752000	0.42762	3.035000	0.49759	2.549000	0.85964	0.563000	0.77884	CCT	SON-006	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000140982.3		+	ENST00000381679.4	Missense_Mutation	SNP	21 : 34925124 - 34925124 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	1022	167
TCF4	6925	broad.mit.edu	37	18	52924608	52924608	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:52924608A>G	ENST00000561992.1	-	10	1092	c.694T>C	c.(694-696)Tgg>Cgg	p.W232R	TCF4_ENST00000564228.1_Missense_Mutation_p.W291R|TCF4_ENST00000570177.2_Missense_Mutation_p.W232R|TCF4_ENST00000398339.1_Missense_Mutation_p.W464R|TCF4_ENST00000537578.1_Missense_Mutation_p.W338R|TCF4_ENST00000564403.2_Missense_Mutation_p.W368R|TCF4_ENST00000457482.3_Missense_Mutation_p.W202R|TCF4_ENST00000540999.1_Missense_Mutation_p.W338R|TCF4_ENST00000568673.1_Missense_Mutation_p.W338R|TCF4_ENST00000564999.1_Missense_Mutation_p.W362R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000570287.2_Missense_Mutation_p.W202R|TCF4_ENST00000543082.1_Missense_Mutation_p.W320R|TCF4_ENST00000544241.2_Missense_Mutation_p.W291R|TCF4_ENST00000561831.3_Missense_Mutation_p.W202R|TCF4_ENST00000568740.1_Missense_Mutation_p.W337R|TCF4_ENST00000566286.1_Missense_Mutation_p.W359R|TCF4_ENST00000537856.3_Missense_Mutation_p.W232R|TCF4_ENST00000566279.1_Missense_Mutation_p.W302R|TCF4_ENST00000565018.2_Missense_Mutation_p.W362R|TCF4_ENST00000356073.4_Missense_Mutation_p.W362R|TCF4_ENST00000567880.1_Missense_Mutation_p.W302R|TCF4_ENST00000354452.3_Missense_Mutation_p.W362R	NM_001243233.1	NP_001230162.1	P15884	ITF2_HUMAN	transcription factor 4	362					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TTTCTAGACCAAACAGCTGTG	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													182	165	170			NA	NA	18		NA											NA				52924608		2203	4300	6503	SO:0001583	missense			M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628	6925	6925		Basic helix-loop-helix proteins	11634	protein-coding gene	gene with protein product		602272			NA	9302263, 2308860	Standard	NM_003199	NM_001083962	NA	Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000561992.1:c.694T>C	18.37:g.52924608A>G	ENSP00000455179:p.Trp232Arg	NA	B4DT37|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	37	CCDS58626.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446962	0.84101	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02;0.02	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;0.999;0.999;0.999;1.0;0.999	D	0.84986	0.0891	10	0.72032	D	0.01	-8.4202	15.2952	0.73898	1.0:0.0:0.0:0.0	.	338;362;202;464;362;320;291;202;359	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	R	362;202;362;320;338;338;291;232;464	ENSP00000346440:W362R;ENSP00000409447:W202R;ENSP00000348374:W362R;ENSP00000439656:W320R;ENSP00000445202:W338R;ENSP00000440731:W338R;ENSP00000441562:W291R;ENSP00000439827:W232R;ENSP00000381382:W464R	ENSP00000346440:W362R	W	-	1	0	TCF4	51075606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.685000	0.91246	2.246000	0.74042	0.533000	0.62120	TGG	TCF4-010	PUTATIVE	alternative_5_UTR|basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421639.1		-	ENST00000561992.1	Missense_Mutation	SNP	18 : 52924608 - 52924608 G PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	609	16
TLL2	7093	broad.mit.edu	37	10	98145915	98145915	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr10:98145915G>A	ENST00000357947.3	-	15	2135	c.1910C>T	c.(1909-1911)cCg>cTg	p.P637L		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	637	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ATACTCCTTCGGCCACCCAGG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													113	109	110			NA	NA	10		NA											NA				98145915		2203	4300	6503	SO:0001583	missense			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587	7093	7093			11844	protein-coding gene	gene with protein product		606743			NA	10516436	Standard		NM_012465	NA	Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.1910C>T	10.37:g.98145915G>A	ENSP00000350630:p.Pro637Leu	NA	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	37	CCDS7449.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175833	0.94807	.	.	ENSG00000095587	ENST00000357947	T	0.53206	0.63	4.98	4.98	0.66077	CUB (5);	0.000000	0.45361	D	0.000367	T	0.78578	0.4305	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84878	0.0829	10	0.72032	D	0.01	.	17.7792	0.88518	0.0:0.0:1.0:0.0	.	637	Q9Y6L7	TLL2_HUMAN	L	637	ENSP00000350630:P637L	ENSP00000350630:P637L	P	-	2	0	TLL2	98135905	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	9.601000	0.98297	2.761000	0.94854	0.585000	0.79938	CCG	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049608.1		-	ENST00000357947.3	Missense_Mutation	SNP	10 : 98145915 - 98145915 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	672	95
TP53	7157	broad.mit.edu	37	17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr17:7577544A>C	ENST00000420246.2	-	7	869	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_ENST00000445888.2_Missense_Mutation_p.M246R|TP53_ENST00000413465.2_Missense_Mutation_p.M246R|TP53_ENST00000359597.4_Missense_Mutation_p.M246R|TP53_ENST00000455263.2_Missense_Mutation_p.M246R|TP53_ENST00000269305.4_Missense_Mutation_p.M246R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M246R(10)|p.M246T(9)|p.0?(8)|p.M246K(7)|p.?(5)|p.M246_P250delMNRRP(2)|p.G244fs*17(1)|p.M153T(1)|p.C242fs*98(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)		CCTCCGGTTCATGCCGCCCAT	0.572		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	47	Substitution - Missense(27)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)|Deletion - In frame(3)	breast(10)|haematopoietic_and_lymphoid_tissue(6)|biliary_tract(6)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|skin(3)|stomach(2)|central_nervous_system(2)|oesophagus(2)|lung(1)|autonomic_ganglia(1)|pancreas(1)											152	113	126			NA	NA	17		NA											NA				7577544		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.737T>G	17.37:g.7577544A>C	ENSP00000391127:p.Met246Arg	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	.	.	.	.	.	.	.	.	.	.	A	21.6	4.177746	0.78564	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	4.62	4.62	0.57501	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	0.99736	0.9896	M	0.87971	2.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.997;0.96;1.0;1.0;0.998	D	0.97237	0.9888	10	0.87932	D	0	-28.5667	12.3101	0.54924	1.0:0.0:0.0:0.0	.	246;246;153;246;246;246	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	R	246;246;246;246;246;246;235;153;114;153	ENSP00000410739:M246R;ENSP00000352610:M246R;ENSP00000269305:M246R;ENSP00000398846:M246R;ENSP00000391127:M246R;ENSP00000391478:M246R;ENSP00000425104:M114R;ENSP00000423862:M153R	ENSP00000269305:M246R	M	-	2	0	TP53	7518269	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATG	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577544 - 7577544 C PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	306	48
TTN	7273	broad.mit.edu	37	2	179583694	179583694	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr2:179583694G>T	ENST00000589042.1	-	84	24457	c.24233C>A	c.(24232-24234)cCa>cAa	p.P8078Q	TTN_ENST00000342992.6_Missense_Mutation_p.P6834Q|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P7761Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7761	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAAAAGATGGTGGTTCTAG	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	50	51			NA	NA	2		NA											NA				179583694		1871	4111	5982	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.24233C>A	2.37:g.179583694G>T	ENSP00000467141:p.Pro8078Gln	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237650	0.39598	.	.	ENSG00000155657	ENST00000342992	T	0.81078	-1.45	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94241	0.8151	H	0.97896	4.1	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95629	0.8688	9	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	7761	Q8WZ42	TITIN_HUMAN	Q	6834	ENSP00000343764:P6834Q	ENSP00000343764:P6834Q	P	-	2	0	TTN	179291939	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.434000	0.97515	2.861000	0.98227	0.650000	0.86243	CCA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179583694 - 179583694 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	95	10
VPS13B	157680	broad.mit.edu	37	8	100861089	100861089	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr8:100861089G>T	ENST00000358544.2	+	55	10214	c.10103G>T	c.(10102-10104)gGa>gTa	p.G3368V	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G3343V	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3368					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCCCCAGAAGGAAAAGCAGGA	0.398		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Colon(161;2205 2542 7338 31318)							NA				0													175	158	164			NA	NA	8		NA											NA				100861089		2203	4300	6503	SO:0001583	missense			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549	157680	157680			2183	protein-coding gene	gene with protein product		607817	Cohen syndrome 1	CHS1, COH1	NA	7920642, 15498460	Standard	NM_184042	NM_181661	NA	Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10103G>T	8.37:g.100861089G>T	ENSP00000351346:p.Gly3368Val	NA	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.707973	0.68615	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.73469	-0.75;-0.75	5.83	4.04	0.47022	.	0.181715	0.47852	D	0.000206	T	0.73458	0.3589	L	0.40543	1.245	0.80722	D	1	P;P	0.47191	0.836;0.891	P;P	0.52343	0.696;0.617	T	0.68762	-0.5323	10	0.27785	T	0.31	.	12.4675	0.55768	0.1326:0.0:0.8674:0.0	.	3343;3368	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	V	3343;3368	ENSP00000349685:G3343V;ENSP00000351346:G3368V	ENSP00000349685:G3343V	G	+	2	0	VPS13B	100930265	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.888000	0.69758	0.817000	0.34445	0.650000	0.86243	GGA	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277138.1		+	ENST00000358544.2	Missense_Mutation	SNP	8 : 100861089 - 100861089 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	618	16
ZBTB17	7709	broad.mit.edu	37	1	16269204	16269204	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:16269204C>A	ENST00000375743.4	-	14	2090	c.1858G>T	c.(1858-1860)Ggg>Tgg	p.G620W	ZBTB17_ENST00000375733.2_Missense_Mutation_p.G620W|ZBTB17_ENST00000537142.1_Missense_Mutation_p.G538W	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	620					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCACGCCCACACTTATCA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	56	61			NA	NA	1		NA											NA				16269204		2203	4300	6503	SO:0001583	missense			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809	7709	7709		-, Zinc fingers, C2H2-type, BTB/POZ domain containing	12936	protein-coding gene	gene with protein product		604084	zinc finger protein 151 (pHZ-67), zinc finger protein 60	ZNF151, ZNF60	NA		Standard	NM_003443	NM_003443	NA	Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.1858G>T	1.37:g.16269204C>A	ENSP00000364895:p.Gly620Trp	NA	A0AV07|B7ZLQ9|Q15932|Q5JYB2|Q9NUC9	37	CCDS165.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.9|21.9	4.210920|4.210920	0.79240|0.79240	.|.	.|.	ENSG00000116809|ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142;ENST00000375729|ENST00000440560	T;T;T|.	0.02525|.	4.26;4.26;4.26|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85775|0.85775	0.5775|0.5775	M|M	0.93462|0.93462	3.42|3.42	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.997;0.997;0.999|.	D|D	0.89151|0.89151	0.3523|0.3523	10|5	0.87932|.	D|.	0|.	.|.	14.9728|14.9728	0.71246|0.71246	0.0:0.8577:0.1423:0.0|0.0:0.8577:0.1423:0.0	.|.	620;538;620|.	Q13105-2;F5H411;Q13105|.	.;.;ZBT17_HUMAN|.	W|L	620;620;539;538;176|19	ENSP00000364895:G620W;ENSP00000364885:G620W;ENSP00000438529:G538W|.	ENSP00000364881:G176W|.	G|W	-|-	1|2	0|0	ZBTB17|ZBTB17	16141791|16141791	0.999000|0.999000	0.42202|0.42202	0.890000|0.890000	0.34922|0.34922	0.996000|0.996000	0.88848|0.88848	4.586000|4.586000	0.60984|0.60984	2.579000|2.579000	0.87056|0.87056	0.563000|0.563000	0.77884|0.77884	GGG|TGG	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000025998.1		-	ENST00000375743.4	Missense_Mutation	SNP	1 : 16269204 - 16269204 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	266	29
ZC3H12A	80149	broad.mit.edu	37	1	37947235	37947235	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr1:37947235A>T	ENST00000373087.6	+	4	733	c.617A>T	c.(616-618)aAg>aTg	p.K206M		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	206					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	p.K206R(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGAAGAAGAAGATCCTGGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)						A	MET/LYS	0,4406		0,0,2203	215	196	203		617	5.4	1	1		203	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ZC3H12A	NM_025079.2	95	0,1,6502	TT,TA,AA	NA	0.0116,0.0,0.0077	probably-damaging	206/600	37947235	1,13005	2203	4300	6503	SO:0001583	missense				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874	80149	80149		Zinc fingers, CCCH-type domain containing	26259	protein-coding gene	gene with protein product	MCP induced protein 1	610562			NA	18178554, 22055188	Standard	NM_025079	NM_025079	NA	Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.617A>T	1.37:g.37947235A>T	ENSP00000362179:p.Lys206Met	NA	D3DPT0|Q6I9Z1|Q9H5P1	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.957246	0.92726	0.0	1.16E-4	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.45668	0.89	5.42	5.42	0.78866	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.62097	0.2400	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.64871	-0.6305	10	0.62326	D	0.03	-37.7323	15.4665	0.75406	1.0:0.0:0.0:0.0	.	206	Q5D1E8	ZC12A_HUMAN	M	206	ENSP00000362179:K206M	ENSP00000362174:K206M	K	+	2	0	ZC3H12A	37719822	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.267000	0.65530	2.054000	0.61138	0.459000	0.35465	AAG	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012154.2		+	ENST00000373087.6	Missense_Mutation	SNP	1 : 37947235 - 37947235 T PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	533	83
ZNF532	55205	broad.mit.edu	37	18	56585592	56585592	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49I-01A-12D-A26I-08	TCGA-HZ-A49I-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b0121cca-1fde-4733-8fe1-0a949d789d93	b2e6fcfc-a9e5-4afc-8f3f-ca0056488a32	g.chr18:56585592G>A	ENST00000336078.4	+	4	849	c.73G>A	c.(73-75)Gat>Aat	p.D25N	ZNF532_ENST00000589288.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591230.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591083.1_Missense_Mutation_p.D25N|ZNF532_ENST00000591808.1_Missense_Mutation_p.D25N	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGATATGGTCGATCCTAAAGC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	80	85			NA	NA	18		NA											NA				56585592		2203	4300	6503	SO:0001583	missense			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657	55205	55205		Zinc fingers, C2H2-type	30940	protein-coding gene	gene with protein product					NA	10997877	Standard	NM_018181	XM_005266723	NA	Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.73G>A	18.37:g.56585592G>A	ENSP00000338217:p.Asp25Asn	NA	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	37	CCDS11969.1	.	.	.	.	.	.	.	.	.	.	G	35	5.584685	0.96578	.	.	ENSG00000074657	ENST00000336078	T	0.07688	3.17	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.07424	-1.0773	10	0.87932	D	0	-18.7627	18.9367	0.92589	0.0:0.0:1.0:0.0	.	25	Q9HCE3	ZN532_HUMAN	N	25	ENSP00000338217:D25N	ENSP00000338217:D25N	D	+	1	0	ZNF532	54736572	1.000000	0.71417	0.986000	0.45419	0.908000	0.53690	9.403000	0.97302	2.560000	0.86352	0.555000	0.69702	GAT	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256130.1		+	ENST00000336078.4	Missense_Mutation	SNP	18 : 56585592 - 56585592 A PAAD-TCGA-HZ-A49I-Tumor-SM-47KL3	394	77
