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
AADACL3	126767	broad.mit.edu	37	1	12779503	12779503	+	Missense_Mutation	SNP	C	C	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:12779503C>G	ENST00000359318.5	+	2	229	c.24C>G	c.(22-24)atC>atG	p.I8M	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	8							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTCAGAATCTGTTCTATGC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													208	212	211			NA	NA	1		NA											NA				12779503		1913	4124	6037	SO:0001583	missense				CCDS41253.1	1p36.21	2014-07-17			ENSG00000188984	ENSG00000188984	126767	126767			32037	protein-coding gene	gene with protein product					NA		Standard	NM_001103170	XM_006710337	NA	Approved	OTTHUMG00000001887	uc009vnn.1	Q5VUY0	OTTHUMG00000001887	ENST00000359318.5:c.24C>G	1.37:g.12779503C>G	ENSP00000352268:p.Ile8Met	NA	B3KXR9|Q5VUY1	37	CCDS41253.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112902	0.37242	.	.	ENSG00000188984	ENST00000359318	T	0.07114	3.22	4.44	4.44	0.53790	.	0.459980	0.21394	N	0.075257	T	0.25158	0.0611	M	0.77313	2.365	0.28056	N	0.933172	D	0.67145	0.996	D	0.63877	0.919	T	0.03121	-1.1070	10	0.72032	D	0.01	-22.8393	10.4714	0.44640	0.0:0.8025:0.1975:0.0	.	8	Q5VUY0	ADCL3_HUMAN	M	8	ENSP00000352268:I8M	ENSP00000352268:I8M	I	+	3	3	AADACL3	12702090	0.319000	0.24607	0.922000	0.36590	0.356000	0.29392	-0.363000	0.07593	2.307000	0.77673	0.491000	0.48974	ATC	AADACL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000005324.2		+	ENST00000359318.5	Missense_Mutation	SNP	1 : 12779503 - 12779503 G PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	1228	221
ABCB8	11194	broad.mit.edu	37	7	150741223	150741223	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:150741223G>A	ENST00000498578.1	+	15	1985	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	ABCB8_ENST00000542328.1_Missense_Mutation_p.R556H|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Missense_Mutation_p.R661H|ABCB8_ENST00000358849.4_Missense_Mutation_p.R644H			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	661	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCAGGCCGCACGGTGCTG	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	51	54			NA	NA	7		NA											NA				150741223		2203	4299	6502	SO:0001583	missense			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150	11194	11194		ATP binding cassette transporters / subfamily B	49	protein-coding gene	gene with protein product	mitochondrial ABC protein	605464			NA	8894702	Standard	NM_007188	NM_001282291	NA	Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000498578.1:c.1931G>A	7.37:g.150741223G>A	ENSP00000418271:p.Arg644His	NA	B2RBL8|O95787|Q53GM0	37		.	.	.	.	.	.	.	.	.	.	G	33	5.237329	0.95240	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000542328;ENST00000498578	D;D;D;T	0.85088	-1.94;-1.94;-1.94;-0.67	4.79	4.79	0.61399	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.90734	0.7092	M	0.65320	2	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.996;0.998	D	0.90458	0.4444	10	0.49607	T	0.09	-2.0118	15.719	0.77694	0.0:0.0:1.0:0.0	.	556;644;661;644	G3XAP3;A5D8W3;Q9NUT2;Q9NUT2-2	.;.;ABCB8_HUMAN;.	H	644;627;661;556;644	ENSP00000351717:R644H;ENSP00000297504:R661H;ENSP00000438776:R556H;ENSP00000418271:R644H	ENSP00000297504:R661H	R	+	2	0	ABCB8	150372156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.512000	0.60469	2.651000	0.90000	0.563000	0.77884	CGC	ABCB8-008	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000351738.1		+	ENST00000498578.1	Missense_Mutation	SNP	7 : 150741223 - 150741223 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	349	5
ADAM30	11085	broad.mit.edu	37	1	120438703	120438703	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:120438703C>T	ENST00000369400.1	-	1	415	c.257G>A	c.(256-258)cGa>cAa	p.R86Q		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	86					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCGCAGATGTCGGGGCAACAG	0.527		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	68	70			NA	NA	1		NA											NA				120438703		2203	4300	6503	SO:0001583	missense			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249	11085	11085		ADAM metallopeptidase domain containing	208	protein-coding gene	gene with protein product		604779	a disintegrin and metalloproteinase domain 30		NA		Standard	NM_021794	NM_021794	NA	Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.257G>A	1.37:g.120438703C>T	ENSP00000358407:p.Arg86Gln	NA	A8K8W8|Q5T3X6|Q9UKF1	37	CCDS907.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590440	0.66219	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.05996	3.36	4.56	1.5	0.22942	Peptidase M12B, propeptide (1);	0.000000	0.32655	U	0.005818	T	0.04227	0.0117	L	0.60957	1.885	0.09310	N	1	P	0.52842	0.956	P	0.53490	0.727	T	0.27262	-1.0079	10	0.56958	D	0.05	.	2.9046	0.05716	0.1851:0.5349:0.1794:0.1006	.	86	Q9UKF2	ADA30_HUMAN	Q	86	ENSP00000358407:R86Q	ENSP00000358407:R86Q	R	-	2	0	ADAM30	120240226	0.000000	0.05858	0.000000	0.03702	0.968000	0.65278	-1.640000	0.02009	0.132000	0.18615	0.462000	0.41574	CGA	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000033678.1		-	ENST00000369400.1	Missense_Mutation	SNP	1 : 120438703 - 120438703 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	368	5
ADRM1	11047	broad.mit.edu	37	20	60883799	60883799	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883799G>T	ENST00000253003.2	+	10	1252	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	402	Interaction with UCHL5.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			ACGAAGAGGAGGACATGAGCC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													161	122	135			NA	NA	20		NA											NA				60883799		2190	4294	6484	SO:0001583	missense			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706	11047	11047			15759	protein-coding gene	gene with protein product		610650			NA	8033103	Standard		NM_007002	NA	Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1206G>T	20.37:g.60883799G>T	ENSP00000253003:p.Glu402Asp	NA	A0PKB1|Q96FJ7|Q9H1P2	37	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.311241	0.81358	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.74	-2.65	0.06095	.	0.000000	0.85682	D	0.000000	T	0.63988	0.2558	L	0.42581	1.335	0.80722	D	1	P	0.34699	0.464	P	0.53760	0.734	T	0.58847	-0.7564	9	0.31617	T	0.26	-32.0816	11.5512	0.50721	0.6719:0.0:0.3281:0.0	.	402	Q16186	ADRM1_HUMAN	D	402	.	ENSP00000253003:E402D	E	+	3	2	ADRM1	60317194	0.989000	0.36119	0.990000	0.47175	0.735000	0.41995	0.312000	0.19397	-0.272000	0.09259	0.561000	0.74099	GAG	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080007.1		+	ENST00000253003.2	Missense_Mutation	SNP	20 : 60883799 - 60883799 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	223	34
ADRM1	11047	broad.mit.edu	37	20	60883800	60883800	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:60883800G>T	ENST00000253003.2	+	10	1253	c.1207G>T	c.(1207-1209)Gac>Tac	p.D403Y	LAMA5_ENST00000492698.1_Intron	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	403	Interaction with UCHL5.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CGAAGAGGAGGACATGAGCCT	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													160	122	135			NA	NA	20		NA											NA				60883800		2190	4294	6484	SO:0001583	missense			D64154	CCDS13496.1, CCDS74747.1	20q13.33	2008-05-22			ENSG00000130706	ENSG00000130706	11047	11047			15759	protein-coding gene	gene with protein product		610650			NA	8033103	Standard		NM_007002	NA	Approved	GP110, Rpn13, ARM1	uc002yco.3	Q16186	OTTHUMG00000032904	ENST00000253003.2:c.1207G>T	20.37:g.60883800G>T	ENSP00000253003:p.Asp403Tyr	NA	A0PKB1|Q96FJ7|Q9H1P2	37	CCDS13496.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.579440	0.86645	.	.	ENSG00000130706	ENST00000253003	.	.	.	5.74	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.76630	0.4014	M	0.73598	2.24	0.80722	D	1	D	0.61697	0.99	P	0.60415	0.874	T	0.80518	-0.1347	9	0.72032	D	0.01	-31.7805	16.5253	0.84329	0.0:0.131:0.869:0.0	.	403	Q16186	ADRM1_HUMAN	Y	403	.	ENSP00000253003:D403Y	D	+	1	0	ADRM1	60317195	1.000000	0.71417	0.999000	0.59377	0.745000	0.42441	9.313000	0.96297	1.414000	0.47017	0.561000	0.74099	GAC	ADRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080007.1		+	ENST00000253003.2	Missense_Mutation	SNP	20 : 60883800 - 60883800 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	215	34
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				5	Substitution - Missense(5)	lung(3)|kidney(1)|endometrium(1)											109	106	107			NA	NA	2		NA											NA				112608394		2203	4300	6503	SO:0001583	missense			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107	64682	64682		Anaphase promoting complex subunits	19988	protein-coding gene	gene with protein product		608473			NA	11179667	Standard	NM_022662	NM_022662	NA	Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala	NA	Q2M3H8|Q9BSE6|Q9H8D0	37	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254045.2		-	ENST00000341068.3	Missense_Mutation	SNP	2 : 112608394 - 112608394 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	507	5
ANGPTL2	23452	broad.mit.edu	37	9	129854112	129854112	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:129854112G>A	ENST00000373425.3	-	4	1736	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|ANGPTL2_ENST00000373417.1_Silent_p.S71S|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	373	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding	p.S373S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTTTGCGGCCGGACCAGTCCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	urinary_tract(1)											191	192	192			NA	NA	9		NA											NA				129854112		2203	4300	6503	SO:0001819	synonymous_variant			AF125175	CCDS6868.1	9q34	2013-02-06			ENSG00000136859	ENSG00000136859	23452	23452		Fibrinogen C domain containing	490	protein-coding gene	gene with protein product		605001			NA	10473614	Standard	NM_012098	NM_012098	NA	Approved	ARP2, HARP	uc004bqr.1	Q9UKU9	OTTHUMG00000020695	ENST00000373425.3:c.1119C>T	9.37:g.129854112G>A		NA	Q5JT58	37	CCDS6868.1																																																																																			ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054129.1		-	ENST00000373425.3	Silent	SNP	9 : 129854112 - 129854112 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	1451	8
ANKS1B	56899	broad.mit.edu	37	12	99640630	99640630	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:99640630C>T	ENST00000547776.2	-	13	1768	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	ANKS1B_ENST00000550833.1_5'UTR|ANKS1B_ENST00000547010.1_Missense_Mutation_p.R170Q|ANKS1B_ENST00000329257.7_Missense_Mutation_p.R590Q	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	590						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GTCATCCTGTCGGGAGAGGTC	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,3774		0,0,1887	124	119	120		1769	3.3	1	12		120	1,8193		0,1,4096	no	missense	ANKS1B	NM_152788.4	43	0,1,5983	TT,TC,CC	NA	0.0122,0.0,0.0084	benign	590/1249	99640630	1,11967	1887	4097	5984	SO:0001583	missense			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10					56899	56899		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	24600	protein-coding gene	gene with protein product		607815			NA	10490826, 12415113	Standard	NM_020140	NM_020140	NA	Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.1769G>A	12.37:g.99640630C>T	ENSP00000449629:p.Arg590Gln	NA	A5PKY5|A7E259|A8K153|A8MSN4|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	37	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	0.986	-0.695588	0.03279	0.0	1.22E-4	ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000549866	T;T;T;T	0.58358	1.15;0.34;1.16;1.06	5.76	3.26	0.37387	.	0.838349	0.10666	N	0.648107	T	0.23289	0.0563	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.11966	-1.0566	9	.	.	.	-5.1323	5.7192	0.17978	0.1489:0.0808:0.0:0.7703	.	556;170;590	F8VVQ4;Q7Z6G8-6;Q7Z6G8	.;.;ANS1B_HUMAN	Q	590;170;590;169;556	ENSP00000449629:R590Q;ENSP00000448512:R170Q;ENSP00000331381:R590Q;ENSP00000449894:R556Q	.	R	-	2	0	ANKS1B	98164761	0.847000	0.29606	0.995000	0.50966	0.026000	0.11368	0.765000	0.26546	1.124000	0.41980	-0.238000	0.12139	CGA	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408421.3		-	ENST00000547776.2	Missense_Mutation	SNP	12 : 99640630 - 99640630 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	930	173
ARAP1	116985	broad.mit.edu	37	11	72404390	72404390	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:72404390G>A	ENST00000359373.5	-	29	4785	c.3934C>T	c.(3934-3936)Cgg>Tgg	p.R1312W	ARAP1_ENST00000426523.1_Missense_Mutation_p.R1067W|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1067W|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1072W|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1312W|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1006W|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1312W			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1312	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TTGTAGAGCCGCAAGCAGCTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(102;1198 1520 13195 17913 37529)							NA				0													66	68	67			NA	NA	11		NA											NA				72404390		2200	4293	6493	SO:0001583	missense			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635	116985	116985		ADP-ribosylation factor GTPase activating proteins, Sterile alpha motif (SAM) domain containing, Pleckstrin homology (PH) domain containing, Ankyrin repeat domain containing	16925	protein-coding gene	gene with protein product		606646	centaurin, delta 2	CENTD2	NA		Standard	NM_001040118	NM_001040118	NA	Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000359373.5:c.3934C>T	11.37:g.72404390G>A	ENSP00000352332:p.Arg1312Trp	NA	A3KLL7|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	37		.	.	.	.	.	.	.	.	.	.	G	16.84	3.234264	0.58886	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000542596	T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.74	2.51	0.30379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.120365	0.53938	D	0.000046	T	0.77545	0.4146	L	0.38175	1.15	0.42463	D	0.99279	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.985;1.0;0.994;0.978;0.975	T	0.77175	-0.2684	10	0.66056	D	0.02	.	9.5284	0.39178	0.0765:0.0:0.6605:0.263	.	1067;1006;1312;1312;1072	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	W	1312;1312;1072;1067;1312;1067;1006;116	ENSP00000352332:R1312W;ENSP00000390461:R1312W;ENSP00000377230:R1072W;ENSP00000335506:R1067W;ENSP00000377233:R1312W;ENSP00000392264:R1067W;ENSP00000403127:R1006W;ENSP00000441741:R116W	ENSP00000335506:R1067W	R	-	1	2	ARAP1	72082038	0.998000	0.40836	1.000000	0.80357	0.524000	0.34500	2.315000	0.43752	0.761000	0.33130	-0.266000	0.10368	CGG	ARAP1-002	KNOWN	basic|appris_candidate	protein_coding	NA	protein_coding	OTTHUMT00000347429.2		-	ENST00000359373.5	Missense_Mutation	SNP	11 : 72404390 - 72404390 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	429	5
ARG1	383	broad.mit.edu	37	6	131894445	131894445	+	Missense_Mutation	SNP	T	T	C	rs149310631		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:131894445T>C	ENST00000368087.3	+	1	162	c.23T>C	c.(22-24)aTa>aCa	p.I8T	ARG1_ENST00000356962.2_Missense_Mutation_p.I8T|ARG1_ENST00000498260.1_3'UTR			P05089	ARGI1_HUMAN	arginase 1	8					arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	TCCAGAACCATAGGGATTATT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													105	100	102			NA	NA	6		NA											NA				131894445		2203	4300	6503	SO:0001583	missense				CCDS5145.1, CCDS59038.1	6q23	2013-05-01	2013-05-01		ENSG00000118520	ENSG00000118520	383	383	3.5.3.1		663	protein-coding gene	gene with protein product		608313	arginase, liver		NA	22959135	Standard		NM_000045	NA	Approved		uc003qcp.2	P05089	OTTHUMG00000015566	ENST00000368087.3:c.23T>C	6.37:g.131894445T>C	ENSP00000357066:p.Ile8Thr	NA	A6NEA0|Q5JWT5|Q5JWT6|Q8TE72|Q9BS50	37	CCDS5145.1	.	.	.	.	.	.	.	.	.	.	T	8.586	0.883549	0.17467	.	.	ENSG00000118520	ENST00000368087;ENST00000356962;ENST00000476845	D;D;D	0.86366	-2.11;-2.11;-2.11	5.79	5.79	0.91817	Ureohydrolase domain (1);	0.325628	0.33290	N	0.005063	D	0.84325	0.5447	M	0.82323	2.585	0.09310	N	0.999999	B;B	0.30793	0.251;0.295	B;B	0.40410	0.318;0.328	T	0.80315	-0.1434	10	0.56958	D	0.05	-5.487	8.5965	0.33718	0.0:0.085:0.0:0.915	.	8;8	P05089-2;P05089	.;ARGI1_HUMAN	T	8	ENSP00000357066:I8T;ENSP00000349446:I8T;ENSP00000417694:I8T	ENSP00000349446:I8T	I	+	2	0	ARG1	131936138	0.030000	0.19436	0.132000	0.22025	0.004000	0.04260	2.543000	0.45752	2.213000	0.71641	0.533000	0.62120	ATA	ARG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042223.1		+	ENST00000368087.3	Missense_Mutation	SNP	6 : 131894445 - 131894445 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	345	87
ARHGAP28	79822	broad.mit.edu	37	18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:6859874C>T	ENST00000419673.2	+	4	444	c.227C>T	c.(226-228)gCg>gTg	p.A76V	ARHGAP28_ENST00000532996.1_Missense_Mutation_p.A58V|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.A71V|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.A235V|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.A76V|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.A76V|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.A183V|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.A235V	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	58					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433		NA											C	3	0.0014	NA	NA	2184	0.01	1	,	,	NA	8e-04	NA	NA	NA	0.0014	1	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													224	213	217			NA	NA	18		NA											NA				6859874		2203	4300	6503	SO:0001583	missense			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756	79822	79822		Rho GTPase activating proteins	25509	protein-coding gene	gene with protein product		610592			NA	10718198	Standard	XM_371108	NM_001010000	NA	Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000419673.2:c.227C>T	18.37:g.6859874C>T	ENSP00000392660:p.Ala76Val	NA		37	CCDS32785.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	C	8.061	0.768218	0.15983	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08102	3.3;3.25;3.2;3.2;3.2;3.13	4.44	0.19	0.15125	.	1.318330	0.04466	N	0.375305	T	0.03136	0.0092	N	0.08118	0	0.09310	N	1	B;B;B;B	0.12630	0.001;0.003;0.006;0.004	B;B;B;B	0.08055	0.001;0.001;0.001;0.003	T	0.42015	-0.9476	10	0.25106	T	0.35	.	7.004	0.24826	0.0:0.5813:0.0:0.4187	.	235;67;76;183	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	V	235;183;76;71;76;76;67;58	ENSP00000382963:A235V;ENSP00000262227:A183V;ENSP00000392660:A76V;ENSP00000437262:A71V;ENSP00000313506:A76V;ENSP00000406907:A76V	ENSP00000262227:A183V	A	+	2	0	ARHGAP28	6849874	0.000000	0.05858	0.001000	0.08648	0.625000	0.37756	0.379000	0.20585	0.014000	0.14944	0.563000	0.77884	GCG	ARHGAP28-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395706.1		+	ENST00000419673.2	Missense_Mutation	SNP	18 : 6859874 - 6859874 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	450	6
ARID3A	1820	broad.mit.edu	37	19	964984	964984	+	Missense_Mutation	SNP	G	G	A	rs143163296		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:964984G>A	ENST00000263620.3	+	6	1429	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	368						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGCACACGGCATGCTCTC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(29;54 1022 32760 50921)							NA				0													66	63	64			NA	NA	19		NA											NA				964984		2203	4300	6503	SO:0001583	missense			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017	1820	1820		-	3031	protein-coding gene	gene with protein product		603265	dead ringer-like 1 (Drosophila), AT rich interactive domain 3A (BRIGHT- like)	DRIL1	NA	9722953	Standard	NM_005224	NM_005224	NA	Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1102G>A	19.37:g.964984G>A	ENSP00000263620:p.Gly368Ser	NA	Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	37	CCDS12050.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.361726	0.01235	.	.	ENSG00000116017	ENST00000263620	T	0.35236	1.32	4.44	-8.01	0.01122	.	0.462369	0.25104	N	0.033107	T	0.12860	0.0312	N	0.11201	0.11	0.18873	N	0.999989	B	0.17268	0.021	B	0.17979	0.02	T	0.25950	-1.0117	10	0.02654	T	1	-4.007	14.1794	0.65564	0.6916:0.0:0.3084:0.0	.	368	Q99856	ARI3A_HUMAN	S	368	ENSP00000263620:G368S	ENSP00000263620:G368S	G	+	1	0	ARID3A	915984	0.000000	0.05858	0.160000	0.22671	0.037000	0.13140	-0.803000	0.04540	-1.691000	0.01430	-0.993000	0.02533	GGC	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000458219.1		+	ENST00000263620.3	Missense_Mutation	SNP	19 : 964984 - 964984 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	452	5
ARMC3	219681	broad.mit.edu	37	10	23250963	23250963	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:23250963G>A	ENST00000298032.5	+	7	772	c.688G>A	c.(688-690)Gac>Aac	p.D230N	ARMC3_ENST00000409049.3_Missense_Mutation_p.D230N|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Missense_Mutation_p.D230N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	230							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATGCTAAGAGACAATCAAGG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	69	72			NA	NA	10		NA											NA				23250963		2203	4300	6503	SO:0001583	missense			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309	219681	219681		Armadillo repeat containing	30964	protein-coding gene	gene with protein product	cancer/testis antigen 81	611226			NA		Standard	NM_173081	XM_005252380	NA	Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.688G>A	10.37:g.23250963G>A	ENSP00000298032:p.Asp230Asn	NA	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	37	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	17.80	3.478799	0.63849	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049	T;T;T	0.19105	2.17;2.17;2.17	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.258007	0.43747	D	0.000526	T	0.22322	0.0538	L	0.38531	1.155	0.80722	D	1	B;B	0.28713	0.07;0.22	B;B	0.28991	0.055;0.097	T	0.02026	-1.1227	10	0.48119	T	0.1	-1.008	19.746	0.96252	0.0:0.0:1.0:0.0	.	230;230	Q5W041-4;Q5W041	.;ARMC3_HUMAN	N	230;230;166;230	ENSP00000298032:D230N;ENSP00000386943:D230N;ENSP00000387288:D230N	ENSP00000298032:D230N	D	+	1	0	ARMC3	23290969	1.000000	0.71417	0.953000	0.39169	0.899000	0.52679	5.700000	0.68318	2.673000	0.90976	0.650000	0.86243	GAC	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047197.2		+	ENST00000298032.5	Missense_Mutation	SNP	10 : 23250963 - 23250963 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	178	35
ATG2A	23130	broad.mit.edu	37	11	64666137	64666137	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:64666137G>A	ENST00000377264.3	-	32	4754	c.4642C>T	c.(4642-4644)Cgg>Tgg	p.R1548W	ATG2A_ENST00000421419.2_Missense_Mutation_p.R1550W	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1548							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGCGGCATCCGCTCACTCGTG	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	67	75			NA	NA	11		NA											NA				64666137		2201	4297	6498	SO:0001583	missense				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046	23130	23130			29028	protein-coding gene	gene with protein product			ATG2 autophagy related 2 homolog A (S. cerevisiae)		NA	21887408	Standard	NM_015104	NM_015104	NA	Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4642C>T	11.37:g.64666137G>A	ENSP00000366475:p.Arg1548Trp	NA	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	37	CCDS31602.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.352957|4.352957	0.82132|0.82132	.|.	.|.	ENSG00000110046|ENSG00000110046	ENST00000418259|ENST00000421419;ENST00000377264	.|T;T	.|0.07444	.|3.19;3.19	4.27|4.27	3.28|3.28	0.37604|0.37604	.|.	.|0.058658	.|0.64402	.|D	.|0.000003	T|T	0.17408|0.17408	0.0418|0.0418	L|L	0.47716|0.47716	1.5|1.5	0.38104|0.38104	D|D	0.937356|0.937356	.|D;D	.|0.76494	.|0.999;0.999	.|P;D	.|0.66084	.|0.874;0.941	T|T	0.00875|0.00875	-1.1531|-1.1531	5|10	.|0.66056	.|D	.|0.02	.|.	9.0664|9.0664	0.36467|0.36467	0.0:0.0:0.6774:0.3226|0.0:0.0:0.6774:0.3226	.|.	.|1548;1550	.|Q2TAZ0;Q2TAZ0-3	.|ATG2A_HUMAN;.	V|W	1351|1550;1548	.|ENSP00000410522:R1550W;ENSP00000366475:R1548W	.|ENSP00000366475:R1548W	A|R	-|-	2|1	0|2	ATG2A|ATG2A	64422713|64422713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	1.056000|1.056000	0.30480|0.30480	2.370000|2.370000	0.80446|0.80446	0.561000|0.561000	0.74099|0.74099	GCG|CGG	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000143224.1		-	ENST00000377264.3	Missense_Mutation	SNP	11 : 64666137 - 64666137 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	387	81
ATL2	64225	broad.mit.edu	37	2	38525479	38525479	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:38525479G>A	ENST00000378954.4	-	12	1440	c.1439C>T	c.(1438-1440)gCg>gTg	p.A480V	ATL2_ENST00000402054.1_Missense_Mutation_p.A309V|ATL2_ENST00000546051.1_Missense_Mutation_p.A309V|ATL2_ENST00000406122.1_Missense_Mutation_p.A309V|ATL2_ENST00000539122.1_Missense_Mutation_p.A309V|ATL2_ENST00000419554.2_Missense_Mutation_p.A480V|ATL2_ENST00000332337.4_Missense_Mutation_p.A462V|ATL2_ENST00000452935.2_Missense_Mutation_p.A462V	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	480					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AAACATGACCGCAAACAGTGT	0.408		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	118	123			NA	NA	2		NA											NA				38525479		2203	4300	6503	SO:0001583	missense				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787	64225	64225			24047	protein-coding gene	gene with protein product		609368	ADP-ribosylation factor-like 6 interacting protein 2	ARL6IP2	NA	10508919, 18270207	Standard	NM_022374	NM_022374	NA	Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.1439C>T	2.37:g.38525479G>A	ENSP00000368237:p.Ala480Val	NA	B7Z1X2|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	37	CCDS46260.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796474	0.50208	.	.	ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051	D;D;D;D;D;D;D;D	0.97138	-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26;-4.26	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.92430	0.7597	L	0.31065	0.9	0.80722	D	1	P;B;P;B;B	0.49635	0.926;0.397;0.531;0.183;0.216	B;B;B;B;B	0.31495	0.115;0.062;0.131;0.08;0.05	D	0.91673	0.5352	10	0.18710	T	0.47	-14.909	19.0794	0.93175	0.0:0.0:1.0:0.0	.	309;462;462;480;480	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9	.;.;.;.;ATLA2_HUMAN	V	480;309;309;309;462;480;462;309	ENSP00000368237:A480V;ENSP00000385446:A309V;ENSP00000384062:A309V;ENSP00000446192:A309V;ENSP00000333393:A462V;ENSP00000415336:A480V;ENSP00000390743:A462V;ENSP00000438938:A309V	ENSP00000333393:A462V	A	-	2	0	ATL2	38378983	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	6.583000	0.74053	2.746000	0.94184	0.591000	0.81541	GCG	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000219886.2		-	ENST00000378954.4	Missense_Mutation	SNP	2 : 38525479 - 38525479 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	411	6
BOD1L1	259282	broad.mit.edu	37	4	13604934	13604934	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:13604934G>A	ENST00000040738.5	-	10	3725	c.3590C>T	c.(3589-3591)gCc>gTc	p.A1197V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1197							DNA binding				NA						TCTATGATCGGCATGCTTTTC	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													158	165	163			NA	NA	4		NA											NA				13604934		2203	4300	6503	SO:0001583	missense			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219	259282	259282			31792	protein-coding gene	gene with protein product			family with sequence similarity 44, member A, biorientation of chromosomes in cell division 1-like	FAM44A, BOD1L	NA		Standard	NM_148894	XM_005248150	NA	Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.3590C>T	4.37:g.13604934G>A	ENSP00000040738:p.Ala1197Val	NA	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	37	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	G	0.102	-1.151148	0.01700	.	.	ENSG00000038219	ENST00000040738	T	0.06528	3.29	5.54	1.31	0.21738	.	0.957388	0.08619	N	0.918700	T	0.06781	0.0173	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.42068	-0.9473	10	0.29301	T	0.29	-0.096	5.5925	0.17309	0.2751:0.1489:0.576:0.0	.	1197	Q8NFC6	BOD1L_HUMAN	V	1197	ENSP00000040738:A1197V	ENSP00000040738:A1197V	A	-	2	0	BOD1L	13214032	0.000000	0.05858	0.019000	0.16419	0.000000	0.00434	0.533000	0.23082	0.296000	0.22592	-0.812000	0.03155	GCC	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207321.1		-	ENST00000040738.5	Missense_Mutation	SNP	4 : 13604934 - 13604934 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	969	7
C1orf110	339512	broad.mit.edu	37	1	162824686	162824686	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:162824686G>A	ENST00000367910.1	-	4	898	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	260										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						ACCCTGTGCCGGAGATAATGG	0.502		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	82	82			NA	NA	1		NA											NA				162824686		1883	4107	5990	SO:0001583	missense			BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860	339512	339512			28736	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_178550	NM_178550	NA	Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.778C>T	1.37:g.162824686G>A	ENSP00000356886:p.Arg260Trp	NA	Q5JSG1|Q6ZW57	37	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474319	0.43942	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.41	3.5	0.40072	.	0.000000	0.47455	D	0.000237	T	0.16599	0.0399	L	0.36672	1.1	0.34538	D	0.709987	P	0.46395	0.877	B	0.40901	0.343	T	0.04693	-1.0933	8	0.49607	T	0.09	-7.6072	8.1269	0.31003	0.1093:0.0:0.8907:0.0	.	260	Q86UF4	CA110_HUMAN	W	260	.	ENSP00000356886:R260W	R	-	1	2	C1orf110	161091310	1.000000	0.71417	0.991000	0.47740	0.269000	0.26545	1.845000	0.39279	1.051000	0.40369	0.655000	0.94253	CGG	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000083211.2		-	ENST00000367910.1	Missense_Mutation	SNP	1 : 162824686 - 162824686 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	352	4
C20orf195	79025	broad.mit.edu	37	20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	rs117659219	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	218										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622		NA											C	1	5e-04	NA	NA	2184	NA	0.9997	,	,	NA	5e-04	0.0013	NA	NA	6e-04	0.7756	EXOME	NA	NA	0.0014	SNP								NA				0								C	VAL/ALA	0,4406		0,0,2203	93	98	96		653	3.2	1	20	dbSNP_132	96	6,8592	5.0+/-18.6	0,6,4293	yes	missense	C20orf195	NM_024059.2	64	0,6,6496	TT,TC,CC	NA	0.0698,0.0,0.0461	benign	218/319	62187669	6,12998	2203	4299	6502	SO:0001583	missense				CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531	79025	79025			28764	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_024059	NM_024059	NA	Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.653C>T	20.37:g.62187669C>T	ENSP00000359116:p.Ala218Val	NA		37	CCDS13526.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	2.207	-0.381718	0.04966	0.0	6.98E-4	ENSG00000125531	ENST00000370098;ENST00000370097	.	.	.	5.47	3.22	0.36961	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.731967	0.11933	N	0.515501	T	0.13030	0.0316	N	0.02539	-0.55	0.24278	N	0.995215	B	0.02656	0.0	B	0.01281	0.0	T	0.28267	-1.0049	9	0.02654	T	1	-20.5053	9.1521	0.36969	0.0:0.1496:0.0:0.8504	.	218	Q9BVV2	CT195_HUMAN	V	218	.	ENSP00000359115:A218V	A	+	2	0	C20orf195	61658113	1.000000	0.71417	0.996000	0.52242	0.671000	0.39405	2.401000	0.44513	0.393000	0.25203	-0.302000	0.09304	GCG	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000080155.1		+	ENST00000370098.3	Missense_Mutation	SNP	20 : 62187669 - 62187669 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	1239	204
C3	718	broad.mit.edu	37	19	6714178	6714178	+	Splice_Site	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:6714178G>A	ENST00000245907.6	-	6	773	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	227					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCTCTTACCGTACTCCTTCA	0.612		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	19		NA											NA				6714178		2203	4300	6503	SO:0001630	splice_region_variant			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	718	718	3.4.21.43	Complement system, Endogenous ligands	1318	protein-coding gene	gene with protein product	C3a anaphylatoxin, complement component C3a, complement component C3b, prepro-C3	120700			NA		Standard	NM_000064	NM_000064	NA	Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.682+1C>T	19.37:g.6714178G>A		NA	A7E236	37	CCDS32883.1																																																																																			C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2	Silent	-	ENST00000245907.6	Splice_Site	SNP	19 : 6714178 - 6714178 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	338	5
CBL	867	broad.mit.edu	37	11	119148958	119148958	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119148958T>C	ENST00000264033.4	+	8	1554	c.1178T>C	c.(1177-1179)aTt>aCt	p.I393T		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	393	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(13)|p.E369_Q409del(1)|p.?(1)|p.E366_K477del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GATGTAAAGATTGAGCCCTGT	0.368		NA	T, Mis S, O	MLL	AML, JMML, MDS				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom, Rec	yes		11	11q23.3	867	Cas-Br-M (murine) ecotropic retroviral transforming		L	16	Deletion - In frame(15)|Unknown(1)	haematopoietic_and_lymphoid_tissue(16)											118	111	113			NA	NA	11		NA											NA				119148958		2199	4295	6494	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;CBL-associated JMML	X57110	CCDS8418.1	11q23.3	2014-09-17	2012-02-23		ENSG00000110395	ENSG00000110395	867	867		RING-type (C3HC4) zinc fingers	1541	protein-coding gene	gene with protein product	oncogene CBL2	165360	Cas-Br-M (murine) ecotropic retroviral transforming sequence	CBL2	NA	2013228	Standard	NM_005188	NM_005188	NA	Approved	RNF55, c-Cbl	uc001pwe.4	P22681	OTTHUMG00000166170	ENST00000264033.4:c.1178T>C	11.37:g.119148958T>C	ENSP00000264033:p.Ile393Thr	NA	A3KMP8	37	CCDS8418.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515433	0.64634	.	.	ENSG00000110395	ENST00000264033	D	0.96011	-3.88	5.52	5.52	0.82312	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.96116	0.8734	L	0.33485	1.01	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97019	0.9742	10	0.87932	D	0	-15.1332	15.9527	0.79855	0.0:0.0:0.0:1.0	.	393	P22681	CBL_HUMAN	T	393	ENSP00000264033:I393T	ENSP00000264033:I393T	I	+	2	0	CBL	118654168	1.000000	0.71417	0.983000	0.44433	0.986000	0.74619	7.655000	0.83696	2.227000	0.72691	0.455000	0.32223	ATT	CBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388219.4		+	ENST00000264033.4	Missense_Mutation	SNP	11 : 119148958 - 119148958 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	461	6
CCNT1	904	broad.mit.edu	37	12	49087735	49087735	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:49087735G>A	ENST00000261900.3	-	9	1484	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	421					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						ATTCTGGGCAGCATATGCATA	0.463		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	144	142			NA	NA	12		NA											NA				49087735		2203	4300	6503	SO:0001583	missense			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315	904	904			1599	protein-coding gene	gene with protein product		143055	human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1	HIVE1	NA	9491887, 9499409	Standard	NM_001240	NM_001240	NA	Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1262C>T	12.37:g.49087735G>A	ENSP00000261900:p.Ala421Val	NA	O60581	37	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619480	0.66787	.	.	ENSG00000129315	ENST00000261900	T	0.20598	2.06	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.23133	0.0559	L	0.49126	1.545	0.58432	D	0.999998	P	0.41929	0.765	B	0.37198	0.243	T	0.03112	-1.1071	10	0.62326	D	0.03	-14.5086	18.0305	0.89282	0.0:0.0:1.0:0.0	.	421	O60563	CCNT1_HUMAN	V	421	ENSP00000261900:A421V	ENSP00000261900:A421V	A	-	2	0	CCNT1	47374002	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.377000	0.73145	2.634000	0.89283	0.561000	0.74099	GCT	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000408853.1		-	ENST00000261900.3	Missense_Mutation	SNP	12 : 49087735 - 49087735 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	800	6
CDCP1	64866	broad.mit.edu	37	3	45153640	45153640	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:45153640T>C	ENST00000296129.1	-	3	724	c.590A>G	c.(589-591)cAc>cGc	p.H197R	CDCP1_ENST00000425231.2_Missense_Mutation_p.H197R	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	197						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CCATGGGAGGTGTAAGGCCAT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													166	158	161			NA	NA	3		NA											NA				45153640		2203	4300	6503	SO:0001583	missense			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814	64866	64866		CD molecules	24357	protein-coding gene	gene with protein product		611735			NA	11466621	Standard	NM_022842	NM_022842	NA	Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.590A>G	3.37:g.45153640T>C	ENSP00000296129:p.His197Arg	NA	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	37	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.419653	0.42918	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.41065	1.92;1.01	5.42	4.25	0.50352	.	0.712205	0.14693	N	0.304050	T	0.41050	0.1142	L	0.54323	1.7	0.27687	N	0.946243	B;B	0.30439	0.279;0.279	B;B	0.31101	0.124;0.124	T	0.34950	-0.9808	10	0.59425	D	0.04	.	12.6997	0.57024	0.0:0.0:0.1375:0.8625	.	197;197	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	R	197	ENSP00000296129:H197R;ENSP00000399342:H197R	ENSP00000296129:H197R	H	-	2	0	CDCP1	45128644	0.981000	0.34729	0.994000	0.49952	0.773000	0.43773	2.658000	0.46733	0.872000	0.35775	0.460000	0.39030	CAC	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256748.3		-	ENST00000296129.1	Missense_Mutation	SNP	3 : 45153640 - 45153640 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	492	7
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:21971120G>A	ENST00000479692.2	-	2	99	c.85C>T	c.(85-87)Cga>Tga	p.R29*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000304494.5_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	GRCh37	CM014695	CDKN2A	M	rs121913388						11	14	13			NA	NA	9		NA											NA				21971120		2172	4246	6418	SO:0001587	stop_gained			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889	1029	1029			1787	protein-coding gene	gene with protein product		600160	cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)	CDKN2, MLM	NA	8152487, 7606716	Standard	NM_000077	NM_058195	NA	Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000479692.2:c.85C>T	9.37:g.21971120G>A	ENSP00000466887:p.Arg29*	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Nonsense_Mutation	SNP	9 : 21971120 - 21971120 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	131	30
CEP97	79598	broad.mit.edu	37	3	101446386	101446386	+	Splice_Site	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:101446386G>A	ENST00000494050.1	+	3	367		c.e3+1		CEP97_ENST00000341893.3_Splice_Site|CEP97_ENST00000327230.4_Splice_Site	NM_024548.2	NP_078824.2	Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	NA						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TAATCTTAAGGTGAATGGTTT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													125	127	126			NA	NA	3		NA											NA				101446386		2203	4300	6503	SO:0001630	splice_region_variant			AL833269	CCDS2944.1	3q12.3	2014-02-20	2008-01-08	2008-01-08	ENSG00000182504	ENSG00000182504	79598	79598			26244	protein-coding gene	gene with protein product		615864	leucine-rich repeats and IQ motif containing 2	LRRIQ2	NA	17719545, 18068367	Standard	NM_024548	NM_024548	NA	Approved	FLJ23047	uc003dvk.1	Q8IW35	OTTHUMG00000159162	ENST00000494050.1:c.345+1G>A	3.37:g.101446386G>A		NA	B5MDY8|Q8NA71|Q9H5T9	37		.	.	.	.	.	.	.	.	.	.	G	23.5	4.419147	0.83559	.	.	ENSG00000182504	ENST00000341893;ENST00000327230;ENST00000494050	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7156	0.96119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP97	102929076	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.703000	0.98714	2.658000	0.90341	0.655000	0.94253	.	CEP97-003	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000353632.1	Intron	+	ENST00000494050.1	Splice_Site	SNP	3 : 101446386 - 101446386 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	496	82
CNOT6	57472	broad.mit.edu	37	5	179992902	179992902	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:179992902G>A	ENST00000393356.1	+	9	1066	c.642G>A	c.(640-642)gcG>gcA	p.A214A	CNOT6_ENST00000261951.4_Silent_p.A214A			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	214					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		CATCATGGGCGCTAAACTGGG	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													116	108	111			NA	NA	5		NA											NA				179992902		2203	4300	6503	SO:0001819	synonymous_variant			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300	57472	57472			14099	protein-coding gene	gene with protein product		608951			NA	11889047	Standard	NM_015455	XM_005265953	NA	Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.642G>A	5.37:g.179992902G>A		NA	A7MD46|D3DWR0	37	CCDS4455.1																																																																																			CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253532.1		+	ENST00000393356.1	Silent	SNP	5 : 179992902 - 179992902 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	462	5
COL1A2	1278	broad.mit.edu	37	7	94052353	94052353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:94052353C>T	ENST00000297268.6	+	40	2959	c.2488C>T	c.(2488-2490)Cga>Tga	p.R830*		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	830			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCAGTTGGCCGAACTGGAGA	0.567		NA								HNSCC(75;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													156	145	149			NA	NA	7		NA											NA				94052353		2203	4300	6503	SO:0001587	stop_gained			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692	1278	1278		Collagens	2198	protein-coding gene	gene with protein product	alpha 2(I)-collagen, alpha-2 collagen type I, type I procollagen, collagen I, alpha-2 polypeptide, collagen of skin, tendon and bone, alpha-2 chain	120160	osteogenesis imperfecta type IV	OI4	NA	3857213, 2897363	Standard	NM_000089	NM_000089	NA	Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2488C>T	7.37:g.94052353C>T	ENSP00000297268:p.Arg830*	NA	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	37	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	44	11.258435	0.99538	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	.	.	.	5.23	4.34	0.51931	.	0.146062	0.46758	D	0.000268	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5039	0.75722	0.1397:0.8603:0.0:0.0	.	.	.	.	X	830;831	.	ENSP00000297268:R830X	R	+	1	2	COL1A2	93890289	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.529000	0.35996	1.335000	0.45486	0.563000	0.77884	CGA	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000309045.2		+	ENST00000297268.6	Nonsense_Mutation	SNP	7 : 94052353 - 94052353 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	572	119
COL5A1	1289	broad.mit.edu	37	9	137593148	137593148	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:137593148G>A	ENST00000371817.3	+	4	1037	c.623G>A	c.(622-624)gGc>gAc	p.G208D	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	208	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ATCGTGTTTGGCACCCGGATC	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													142	108	119			NA	NA	9		NA											NA				137593148		2203	4300	6503	SO:0001583	missense			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635	1289	1289		Collagens	2209	protein-coding gene	gene with protein product	alpha 1 type V collagen	120215			NA	1572660	Standard	NM_000093	NM_001278074	NA	Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.623G>A	9.37:g.137593148G>A	ENSP00000360882:p.Gly208Asp	NA	Q15094|Q5SUX4	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075833	0.55646	.	.	ENSG00000130635	ENST00000371817	D	0.95918	-3.85	4.93	4.04	0.47022	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.64402	U	0.000001	D	0.97870	0.9300	H	0.95260	3.645	0.58432	D	0.999994	P	0.52692	0.955	P	0.57204	0.815	D	0.98523	1.0624	10	0.87932	D	0	.	13.5115	0.61515	0.0763:0.0:0.9237:0.0	.	208	P20908	CO5A1_HUMAN	D	208	ENSP00000360882:G208D	ENSP00000360882:G208D	G	+	2	0	COL5A1	136732969	1.000000	0.71417	0.742000	0.31022	0.439000	0.31926	9.489000	0.97949	1.196000	0.43129	0.491000	0.48974	GGC	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054954.2		+	ENST00000371817.3	Missense_Mutation	SNP	9 : 137593148 - 137593148 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	167	8
CPNE4	131034	broad.mit.edu	37	3	131442441	131442441	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:131442441C>T	ENST00000512055.1	-	7	2335	c.209G>A	c.(208-210)tGc>tAc	p.C70Y	CPNE4_ENST00000502818.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000511604.1_Missense_Mutation_p.C70Y|CPNE4_ENST00000512332.1_Missense_Mutation_p.C88Y|CPNE4_ENST00000429747.1_Missense_Mutation_p.C70Y			Q96A23	CPNE4_HUMAN	copine IV	70	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGGTTTATGCAGGTGCGAAT	0.418		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													111	111	111			NA	NA	3		NA											NA				131442441		2203	4300	6503	SO:0001583	missense			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353	131034	131034			2317	protein-coding gene	gene with protein product	copine 8	604208			NA	9430674, 12670487	Standard	NM_130808	XM_005247107	NA	Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.209G>A	3.37:g.131442441C>T	ENSP00000421705:p.Cys70Tyr	NA	D3DNC5|Q8TEX1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404858	0.62288	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881;ENST00000514999;ENST00000505957	T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	5.38	5.38	0.77491	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.120680	0.85682	D	0.000000	T	0.58524	0.2128	M	0.77616	2.38	0.49299	D	0.999775	B;B	0.30482	0.147;0.281	B;B	0.42495	0.221;0.389	T	0.61973	-0.6952	10	0.72032	D	0.01	-7.8453	19.1819	0.93627	0.0:1.0:0.0:0.0	.	88;70	Q96A23-2;Q96A23	.;CPNE4_HUMAN	Y	70;70;88;70;88;70;70;70	ENSP00000421705:C70Y;ENSP00000411904:C70Y;ENSP00000424853:C88Y;ENSP00000423811:C70Y;ENSP00000421646:C88Y;ENSP00000425506:C70Y;ENSP00000427561:C70Y;ENSP00000421394:C70Y	ENSP00000411904:C70Y	C	-	2	0	CPNE4	132925131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.896000	0.56266	2.542000	0.85734	0.555000	0.69702	TGC	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000356583.4		-	ENST00000512055.1	Missense_Mutation	SNP	3 : 131442441 - 131442441 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	724	6
CREBBP	1387	broad.mit.edu	37	16	3801767	3801767	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:3801767C>T	ENST00000262367.5	-	20	4548	c.3739G>A	c.(3739-3741)Gag>Aag	p.E1247K	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1209K	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1247	Cys/His-rich.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GTCACATTCTCGCCCTGGATC	0.502		NA	T, N, F, Mis, O	MLL, MORF, RUNXBP2	ALL, AML, DLBCL, B-NHL 		Rubinstein-Taybi syndrome							NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													276	193	221			NA	NA	16		NA											NA				3801767		2197	4300	6497	SO:0001583	missense			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339	1387	1387		Chromatin-modifying enzymes / K-acetyltransferases	2348	protein-coding gene	gene with protein product		600140	Rubinstein-Taybi syndrome	RSTS	NA	8413673	Standard	NM_004380	NM_001079846	NA	Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3739G>A	16.37:g.3801767C>T	ENSP00000262367:p.Glu1247Lys	NA	D3DUC9|O00147|Q16376	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303906	0.60305	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.83992	-1.79;-1.71	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000001	T	0.75539	0.3863	L	0.42487	1.325	0.53688	D	0.999978	P;P	0.44195	0.828;0.828	B;B	0.28991	0.097;0.097	T	0.78703	-0.2101	10	0.46703	T	0.11	-29.1663	19.3082	0.94173	0.0:1.0:0.0:0.0	.	1277;1247	Q4LE28;Q92793	.;CBP_HUMAN	K	1247;1277;1209	ENSP00000262367:E1247K;ENSP00000371502:E1209K	ENSP00000262367:E1247K	E	-	1	0	CREBBP	3741768	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.577000	0.67444	2.539000	0.85634	0.655000	0.94253	GAG	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251591.2		-	ENST00000262367.5	Missense_Mutation	SNP	16 : 3801767 - 3801767 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	285	56
CREBZF	58487	broad.mit.edu	37	11	85375165	85375165	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:85375165T>C	ENST00000527447.1	-	1	981	c.755A>G	c.(754-756)gAg>gGg	p.E252G	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.E170G	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	252	Leucine-zipper.				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TTTGCCCAGCTCCCGATTCTC	0.622		NA									OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(172;674 2044 9050 18334 41735)							NA				0													106	120	116			NA	NA	11		NA											NA				85375165		2119	4236	6355	SO:0001583	missense			AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504	58487	58487		basic leucine zipper proteins	24905	protein-coding gene	gene with protein product	Zhangfei	606444			NA	10871379	Standard	NM_001039618	NM_001039618	NA	Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.755A>G	11.37:g.85375165T>C	ENSP00000433459:p.Glu252Gly	1236	B2R8Q9|Q0P5U9|Q52LT3	37	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.226321	0.39300	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	T;T	0.56611	0.45;0.45	4.89	4.89	0.63831	Basic-leucine zipper (bZIP) transcription factor (1);bZIP transcription factor, bZIP-1 (1);	0.096735	0.41938	D	0.000795	T	0.37128	0.0992	L	0.34521	1.04	0.34338	D	0.688429	B	0.24651	0.108	B	0.22386	0.039	T	0.45659	-0.9246	9	.	.	.	-7.8605	7.6471	0.28327	0.0:0.1284:0.0:0.8716	.	252	Q9NS37	ZHANG_HUMAN	G	170;252	ENSP00000381342:E170G;ENSP00000433459:E252G	.	E	-	2	0	CREBZF	85052813	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.330000	0.52068	2.058000	0.61347	0.533000	0.62120	GAG	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390191.2		-	ENST00000527447.1	Missense_Mutation	SNP	11 : 85375165 - 85375165 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	1561	285
CSF3R	1441	broad.mit.edu	37	1	36939177	36939177	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:36939177C>T	ENST00000373103.1	-	6	1079	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	CSF3R_ENST00000331941.5_Missense_Mutation_p.V178M|CSF3R_ENST00000373106.1_Missense_Mutation_p.V178M|CSF3R_ENST00000440588.2_Missense_Mutation_p.V178M|CSF3R_ENST00000338937.5_Missense_Mutation_p.V178M|CSF3R_ENST00000373104.1_Missense_Mutation_p.V178M|CSF3R_ENST00000418048.2_Missense_Mutation_p.V178M|CSF3R_ENST00000361632.4_Missense_Mutation_p.V178M	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	178	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TCCTTGGGCACGCAGTCCAGG	0.607		NA											C	1	5e-04	0.002	NA	2184	NA	0.9999	,	,	NA	3e-04	NA	NA	NA	5e-04	0.9049	LOWCOV,EXOME	NA	NA	6e-04	SNP								NA				0													76	68	71			NA	NA	1		NA											NA				36939177		2203	4300	6503	SO:0001583	missense			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535	1441	1441		CD molecules, Fibronectin type III domain containing	2439	protein-coding gene	gene with protein product		138971		CD114	NA	1371413	Standard	NM_156039	NM_000760	NA	Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373103.1:c.532G>A	1.37:g.36939177C>T	ENSP00000362195:p.Val178Met	NA		37	CCDS414.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	7.097	0.573316	0.13623	.	.	ENSG00000119535	ENST00000373106;ENST00000373104;ENST00000373103;ENST00000361632;ENST00000331941;ENST00000418048;ENST00000338937;ENST00000440588	T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.22	-0.00103	0.14035	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.150820	0.06140	N	0.672141	T	0.21881	0.0527	L	0.31664	0.95	0.24342	N	0.99496	D;D;P;P	0.54047	0.964;0.958;0.929;0.723	B;B;B;B	0.36418	0.224;0.174;0.084;0.069	T	0.25606	-1.0127	10	0.34782	T	0.22	-5.3635	7.0679	0.25161	0.0:0.3842:0.0:0.6158	.	178;178;178;178	E1B6W6;Q99062-3;Q99062;Q99062-4	.;.;CSF3R_HUMAN;.	M	178	ENSP00000362198:V178M;ENSP00000362196:V178M;ENSP00000362195:V178M;ENSP00000355406:V178M;ENSP00000332180:V178M;ENSP00000401588:V178M;ENSP00000345013:V178M;ENSP00000397568:V178M	ENSP00000332180:V178M	V	-	1	0	CSF3R	36711764	0.188000	0.23250	0.026000	0.17262	0.003000	0.03518	0.000000	0.12993	0.159000	0.19401	-0.192000	0.12808	GTG	CSF3R-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000022000.3		-	ENST00000373103.1	Missense_Mutation	SNP	1 : 36939177 - 36939177 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	350	67
CTNND1	1500	broad.mit.edu	37	11	57559074	57559074	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57559074G>A	ENST00000524630.1	+	3	637	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	CTNND1_ENST00000532649.1_5'UTR|CTNND1_ENST00000399039.4_Missense_Mutation_p.E42K|CTNND1_ENST00000532787.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.E42K|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000361332.4_Missense_Mutation_p.E42K|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.E42K|CTNND1_ENST00000358694.6_Missense_Mutation_p.E42K|CTNND1_ENST00000534579.1_5'UTR|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000361796.4_Missense_Mutation_p.E42K|CTNND1_ENST00000529873.1_5'UTR|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000526938.1_Missense_Mutation_p.E42K|CTNND1_ENST00000415361.2_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000529526.1_5'UTR|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000526357.1_5'UTR|CTNND1_ENST00000530094.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000528621.1_5'UTR|CTNND1_ENST00000532844.1_5'UTR|CTNND1_ENST00000428599.2_Missense_Mutation_p.E42K|CTNND1_ENST00000399050.4_Missense_Mutation_p.E42K|CTNND1_ENST00000360682.6_Missense_Mutation_p.E42K|CTNND1_ENST00000530748.1_5'UTR|RP11-691N7.6_ENST00000531074.1_3'UTR			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	42					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGCGCAGCTGGAACGCGTCCG	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													40	45	44			NA	NA	11		NA											NA				57559074		2089	4199	6288	SO:0001583	missense			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561	1500	1500		Armadillo repeat containing	2515	protein-coding gene	gene with protein product		601045		CTNND	NA	8808291	Standard	NM_001331	NM_001085460	NA	Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000524630.1:c.124G>A	11.37:g.57559074G>A	ENSP00000436543:p.Glu42Lys	NA	A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	37	CCDS44606.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405970	0.83230	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000358694;ENST00000428599;ENST00000526938	T;T;T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.62	5.62	0.85841	.	0.176390	0.50627	D	0.000116	T	0.35913	0.0948	L	0.59436	1.845	0.36574	D	0.873151	P;P;P;P;P;P	0.42248	0.774;0.774;0.665;0.774;0.762;0.665	B;B;B;B;B;B	0.39379	0.236;0.236;0.119;0.236;0.298;0.119	T	0.47484	-0.9114	10	0.72032	D	0.01	-9.2286	18.7943	0.91988	0.0:0.0:1.0:0.0	.	42;42;42;42;42;42	O60716-3;O60716-2;O60716;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.	K	42	ENSP00000436543:E42K;ENSP00000434808:E42K;ENSP00000381996:E42K;ENSP00000353902:E42K;ENSP00000354907:E42K;ENSP00000382004:E42K;ENSP00000354785:E42K;ENSP00000354823:E42K;ENSP00000351527:E42K;ENSP00000413586:E42K;ENSP00000432041:E42K	ENSP00000351527:E42K	E	+	1	0	CTNND1	57315650	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.153000	0.89640	2.809000	0.96659	0.655000	0.94253	GAA	CTNND1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393939.2		+	ENST00000524630.1	Missense_Mutation	SNP	11 : 57559074 - 57559074 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	265	41
CUBN	8029	broad.mit.edu	37	10	16919089	16919089	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:16919089G>A	ENST00000377833.4	-	57	8978	c.8913C>T	c.(8911-8913)tcC>tcT	p.S2971S		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2971	CUB 22.				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)	CCGTCACAGCGGAACGAGCTG	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A		3,4403	823.8+/-416.5	0,3,2200	62	49	53		8913	-11.8	0	10		53	0,8600		0,0,4300	no	coding-synonymous	CUBN	NM_001081.3		0,3,6500	AA,AG,GG	NA	0.0,0.0681,0.0231		2971/3624	16919089	3,13003	2203	4300	6503	SO:0001819	synonymous_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.8913C>T	10.37:g.16919089G>A		NA	B0YIZ4|Q5VTA6|Q96RU9	37	CCDS7113.1																																																																																			CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000047009.1		-	ENST00000377833.4	Silent	SNP	10 : 16919089 - 16919089 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	152	4
DAGLA	747	broad.mit.edu	37	11	61511762	61511762	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:61511762C>T	ENST00000257215.5	+	20	3046	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	977					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCTCTTTGCCGGCTCAGCC	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													55	64	61			NA	NA	11		NA											NA				61511762		2202	4299	6501	SO:0001583	missense			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	747	747	3.1.1.-		1165	protein-coding gene	gene with protein product	neural stem cell-derived dendrite regulator	614015	chromosome 11 open reading frame 11	C11orf11	NA	9734811	Standard	NM_006133	NM_006133	NA	Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2930C>T	11.37:g.61511762C>T	ENSP00000257215:p.Ala977Val	NA	A7E233|Q6WQJ0	37	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.357139	0.82243	.	.	ENSG00000134780	ENST00000257215	T	0.38240	1.15	4.03	4.03	0.46877	.	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	L	0.27053	0.805	0.58432	D	0.999998	D	0.61697	0.99	P	0.57204	0.815	T	0.49331	-0.8951	10	0.87932	D	0	-22.923	16.5651	0.84577	0.0:1.0:0.0:0.0	.	977	Q9Y4D2	DGLA_HUMAN	V	977	ENSP00000257215:A977V	ENSP00000257215:A977V	A	+	2	0	DAGLA	61268338	1.000000	0.71417	0.979000	0.43373	0.966000	0.64601	5.512000	0.67030	1.979000	0.57680	0.462000	0.41574	GCC	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398516.1		+	ENST00000257215.5	Missense_Mutation	SNP	11 : 61511762 - 61511762 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	507	5
DHRS7C	201140	broad.mit.edu	37	17	9684814	9684814	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:9684814C>T	ENST00000571134.1	-	2	264	c.252G>A	c.(250-252)gtG>gtA	p.V84V	DHRS7C_ENST00000330255.5_Silent_p.V84V			A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	84						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGGGTCAGCCACGCTGATCA	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													73	80	78			NA	NA	17		NA											NA				9684814		2031	4182	6213	SO:0001819	synonymous_variant				CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544	201140	201140		Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3	32423	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 32C, member 2				NA	19027726	Standard	XM_113912	NM_001105571	NA	Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000571134.1:c.252G>A	17.37:g.9684814C>T		NA	B7ZW74	37	CCDS58517.1																																																																																			DHRS7C-002	NOVEL	NAGNAG_splice_site|basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000439862.1		-	ENST00000571134.1	Silent	SNP	17 : 9684814 - 9684814 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	244	54
DIAPH2	1730	broad.mit.edu	37	X	96185760	96185760	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:96185760T>G	ENST00000324765.8	+	10	1354	c.1007T>G	c.(1006-1008)cTt>cGt	p.L336R	DIAPH2_ENST00000355827.4_Missense_Mutation_p.L336R|DIAPH2_ENST00000373061.3_Missense_Mutation_p.L336R|DIAPH2_ENST00000373054.4_Missense_Mutation_p.L332R|DIAPH2_ENST00000373049.4_Missense_Mutation_p.L336R			O60879	DIAP2_HUMAN	diaphanous-related formin 2	336	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						ATAAATGCCCTTGTCACTTCT	0.303		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	87	90			NA	NA	X		NA											NA				96185760		2203	4299	6502	SO:0001583	missense			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202	1730	1730			2877	protein-coding gene	gene with protein product		300108	diaphanous (Drosophila, homolog) 2, diaphanous homolog 2 (Drosophila)		NA	9360932	Standard	NM_006729, NM_007309	NM_006729	NA	Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1007T>G	X.37:g.96185760T>G	ENSP00000321348:p.Leu336Arg	NA	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	37	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	T	16.84	3.234447	0.58886	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.91740	-2.9;-2.9;-2.9;-2.9;-2.9	4.93	4.93	0.64822	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000011	D	0.96411	0.8829	M	0.89095	3.005	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97111	0.9804	10	0.87932	D	0	.	13.9748	0.64265	0.0:0.0:0.0:1.0	.	336;336;343	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	R	336;332;336;336;336;343	ENSP00000362152:L336R;ENSP00000362145:L332R;ENSP00000348082:L336R;ENSP00000362140:L336R;ENSP00000321348:L336R	ENSP00000321348:L336R	L	+	2	0	DIAPH2	96072416	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.424000	0.80242	1.745000	0.51790	0.481000	0.45027	CTT	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058871.2		+	ENST00000324765.8	Missense_Mutation	SNP	X : 96185760 - 96185760 G PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	136	68
DNAH3	55567	broad.mit.edu	37	16	20976524	20976524	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:20976524G>A	ENST00000261383.3	-	53	8681	c.8682C>T	c.(8680-8682)taC>taT	p.Y2894Y	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2894	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACGCGATCGTACACCTCCA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													118	108	111			NA	NA	16		NA											NA				20976524		2201	4300	6501	SO:0001819	synonymous_variant			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486	55567	55567		Axonemal dyneins	2949	protein-coding gene	gene with protein product		603334	dynein, axonemal, heavy polypeptide 3		NA	9256245, 9373155	Standard	NM_017539	NM_017539	NA	Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8682C>T	16.37:g.20976524G>A		NA	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	37	CCDS10594.1																																																																																			DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000207361.1		-	ENST00000261383.3	Silent	SNP	16 : 20976524 - 20976524 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	877	157
DNAH8	1769	broad.mit.edu	37	6	38690644	38690644	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:38690644C>T	ENST00000449981.2	+	2	168	c.59C>T	c.(58-60)aCg>aTg	p.T20M						dynein, axonemal, heavy chain 8	NA										NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTCCCTCTACGGAAGAGGCT	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													22	22	22			NA	NA	6		NA											NA				38690644		876	1991	2867	SO:0001583	missense			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721	1769	1769		Axonemal dyneins	2952	protein-coding gene	gene with protein product		603337	dynein, axonemal, heavy polypeptide 8		NA	9373155	Standard	NM_001206927	NM_001206927	NA	Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000449981.2:c.59C>T	6.37:g.38690644C>T	ENSP00000415331:p.Thr20Met	NA		37		.	.	.	.	.	.	.	.	.	.	C	12.78	2.040744	0.35989	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	T	0.24723	1.84	4.36	0.108	0.14548	.	2.167450	0.02450	N	0.085520	T	0.04048	0.0113	N	0.08118	0	0.20307	N	0.999911	B	0.26120	0.142	B	0.11329	0.006	T	0.30504	-0.9976	10	0.66056	D	0.02	.	3.659	0.08232	0.3333:0.4705:0.0:0.1962	.	20	Q8IU65	.	M	20;8;8	ENSP00000333363:T8M	ENSP00000333363:T8M	T	+	2	0	DNAH8	38798622	0.001000	0.12720	0.000000	0.03702	0.050000	0.14768	0.784000	0.26816	0.106000	0.17784	0.591000	0.81541	ACG	DNAH8-003	KNOWN	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000043576.2		+	ENST00000449981.2	Missense_Mutation	SNP	6 : 38690644 - 38690644 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	101	27
DSC1	1823	broad.mit.edu	37	18	28725666	28725666	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr18:28725666delT	ENST00000257197.3	-	7	1108	c.847delA	c.(847-849)atcfs	p.I283fs	DSC1_ENST00000257198.5_Frame_Shift_Del_p.I283fs|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	283	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTTGTAAGATTTTATATTTC	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													189	190	190			NA	NA	18		NA											NA				28725666		2203	4300	6503	SO:0001589	frameshift_variant			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765	1823	1823		Cadherins / Major cadherins	3035	protein-coding gene	gene with protein product		125643			NA	8486729	Standard	NM_004948, NM_024421	NM_024421	NA	Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257197.3:c.847delA	18.37:g.28725666delT	ENSP00000257197:p.Ile283fs	NA	Q9HB01	37	CCDS11895.1																																																																																			DSC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254945.1		-	ENST00000257197.3	Frame_Shift_Del	DEL	18 : 28725666 - 28725666 - PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	457	95
DUSP13	51207	broad.mit.edu	37	10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:76855494G>A	ENST00000464872.1	-	2	232	c.233C>T	c.(232-234)gCc>gTc	p.A78V	DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000491677.2_Missense_Mutation_p.A207V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	70	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(174;1655 2059 12324 40663 42963)							NA				0													205	181	189			NA	NA	10		NA											NA				76855494		2203	4300	6503	SO:0001583	missense			AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393	NA	51207		Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases	19681	protein-coding gene	gene with protein product		613191			NA	10585869	Standard		XM_005269883	NA	Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000464872.1:c.233C>T	10.37:g.76855494G>A	ENSP00000434041:p.Ala78Val	NA	Q96J67	37		.	.	.	.	.	.	.	.	.	.	G	8.989	0.977271	0.18812	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.60548	0.42;0.42;0.42;0.18;0.42	5.11	-2.7	0.06004	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.348638	0.33235	N	0.005130	T	0.30947	0.0781	N	0.13198	0.31	0.31631	N	0.648985	B;P;P	0.41265	0.342;0.678;0.744	B;B;B	0.36534	0.092;0.137;0.227	T	0.48198	-0.9056	10	0.14656	T	0.56	-2.9419	12.3709	0.55254	0.2733:0.0:0.7267:0.0	.	128;207;78	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	V	78;78;207;171;78;128	ENSP00000311051:A78V;ENSP00000444580:A78V;ENSP00000436312:A207V;ENSP00000434041:A78V;ENSP00000361785:A128V	ENSP00000311051:A78V	A	-	2	0	DUSP13	76525500	0.981000	0.34729	0.126000	0.21872	0.401000	0.30781	2.524000	0.45589	-0.319000	0.08652	-0.150000	0.13652	GCC	DUSP13-007	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000048789.2		-	ENST00000464872.1	Missense_Mutation	SNP	10 : 76855494 - 76855494 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	747	6
ECT2L	345930	broad.mit.edu	37	6	139206663	139206663	+	Silent	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:139206663A>C	ENST00000423192.1	+	16	2210	c.2049A>C	c.(2047-2049)gcA>gcC	p.A683A	ECT2L_ENST00000541398.1_Intron|ECT2L_ENST00000367682.2_Silent_p.A683A			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	683	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGATACCAGCATTCCGAACTT	0.443		NA	N, Splice, Mis		ETP ALL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													110	104	106			NA	NA	6		NA											NA				139206663		1918	4121	6039	SO:0001819	synonymous_variant				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734	345930	345930		Rho guanine nucleotide exchange factors, F-boxes /  other	21118	protein-coding gene	gene with protein product	lung specific F-box and DH domain containing protein, F-box protein 49		chromosome 6 open reading frame 91, epithelial cell transforming sequence 2 oncogene-like	C6orf91	NA		Standard	NM_001077706	NM_001077706	NA	Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.2049A>C	6.37:g.139206663A>C		NA	B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	37	CCDS43508.1																																																																																			ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000042441.3		+	ENST00000423192.1	Silent	SNP	6 : 139206663 - 139206663 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	376	6
EFTUD2	9343	broad.mit.edu	37	17	42953434	42953434	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42953434G>A	ENST00000426333.2	-	10	1034	c.737C>T	c.(736-738)gCg>gTg	p.A246V	EFTUD2_ENST00000592576.1_Missense_Mutation_p.A236V|EFTUD2_ENST00000402521.3_Missense_Mutation_p.A211V|EFTUD2_ENST00000591382.1_Missense_Mutation_p.A246V	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	246						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTCCTGCACCGCATGCTTGAT	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(10;65 485 10258 29980 30707)							NA				0													134	118	123			NA	NA	17		NA											NA				42953434		2203	4300	6503	SO:0001583	missense			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883	9343	9343			30858	protein-coding gene	gene with protein product	U5 snRNP specific protein, 116 kD	603892			NA	9233818	Standard	NM_004247	NM_004247	NA	Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.737C>T	17.37:g.42953434G>A	ENSP00000392094:p.Ala246Val	NA	D3DX58|Q9BUR0	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	G	33	5.247992	0.95305	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.74632	-0.86;-0.86	4.96	4.96	0.65561	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	D	0.89266	0.6666	M	0.92219	3.285	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.68353	0.957;0.957	D	0.91833	0.5477	10	0.87932	D	0	-9.0248	18.401	0.90516	0.0:0.0:1.0:0.0	.	236;246	B4DMC0;Q15029	.;U5S1_HUMAN	V	246;236;211	ENSP00000392094:A246V;ENSP00000385873:A211V	ENSP00000262414:A236V	A	-	2	0	EFTUD2	40308960	1.000000	0.71417	0.438000	0.26821	0.968000	0.65278	9.591000	0.98241	2.589000	0.87451	0.591000	0.81541	GCG	EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448672.1		-	ENST00000426333.2	Missense_Mutation	SNP	17 : 42953434 - 42953434 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	778	7
ENAM	10117	broad.mit.edu	37	4	71508260	71508260	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:71508260C>A	ENST00000396073.3	+	9	1398	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	373					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACAAGTAGCTCGTCCAGGAAA	0.438		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													109	114	112			NA	NA	4		NA											NA				71508260		2203	4300	6503	SO:0001583	missense			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464	10117	10117			3344	protein-coding gene	gene with protein product		606585	amelogenesis imperfecta 2, hypocalcification (autosomal dominant)	AIH2	NA	11978766	Standard	NM_031889	NM_031889	NA	Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1117C>A	4.37:g.71508260C>A	ENSP00000379383:p.Arg373Ser	NA	Q17RI5|Q9H3D1	37	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	9.070	0.996778	0.19043	.	.	ENSG00000132464	ENST00000396073	T	0.31510	1.49	5.93	1.05	0.20165	.	0.946121	0.08814	N	0.889824	T	0.37489	0.1005	M	0.69358	2.11	0.09310	N	1	P	0.43024	0.798	P	0.48488	0.579	T	0.24083	-1.0170	10	0.48119	T	0.1	0.5722	4.3221	0.11022	0.4017:0.3948:0.1299:0.0735	.	373	Q9NRM1	ENAM_HUMAN	S	373	ENSP00000379383:R373S	ENSP00000379383:R373S	R	+	1	0	ENAM	71727124	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.768000	0.26590	-0.116000	0.11893	-0.182000	0.12963	CGT	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252166.3		+	ENST00000396073.3	Missense_Mutation	SNP	4 : 71508260 - 71508260 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	898	183
ERBB2IP	55914	broad.mit.edu	37	5	65288599	65288599	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:65288599G>A	ENST00000511297.1	+	3	190	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R18Q|ERBB2IP_ENST00000284037.5_Missense_Mutation_p.R18Q			Q96RT1	LAP2_HUMAN	erbb2 interacting protein	18					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CGCTGTCTACGAGGGGAAGAG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	134	134			NA	NA	5		NA											NA				65288599		2203	4300	6503	SO:0001583	missense				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851	55914	55914			15842	protein-coding gene	gene with protein product	densin-180-like protein, ERBB2-interacting protein	606944	erbb2-interacting protein		NA	10574462, 10878805	Standard	NM_018695	NM_001253697	NA	Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000511297.1:c.53G>A	5.37:g.65288599G>A	ENSP00000422766:p.Arg18Gln	NA	Q86W38|Q9NR18|Q9NW48|Q9ULJ5	37	CCDS58951.1	.	.	.	.	.	.	.	.	.	.	G	35	5.516152	0.96402	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000416865;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T;T	0.40476	1.23;1.23;1.39;1.23;1.42;1.03;1.3;1.22;1.26;1.03	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62085	0.2399	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D	0.85130	0.922;0.997;0.934;0.996;0.99;0.992;0.983;0.994	T	0.64437	-0.6408	10	0.66056	D	0.02	.	18.6235	0.91330	0.0:0.0:1.0:0.0	.	18;18;18;18;18;18;18;18	B4DIP2;Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;.;LAP2_HUMAN;.;.	Q	18	ENSP00000284037:R18Q;ENSP00000370330:R18Q;ENSP00000397833:R18Q;ENSP00000370326:R18Q;ENSP00000370323:R18Q;ENSP00000370322:R18Q;ENSP00000370325:R18Q;ENSP00000422766:R18Q;ENSP00000426632:R18Q;ENSP00000422015:R18Q	ENSP00000284037:R18Q	R	+	2	0	ERBB2IP	65324355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.756000	0.98918	2.388000	0.81334	0.655000	0.94253	CGA	ERBB2IP-006	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000368829.1		+	ENST00000511297.1	Missense_Mutation	SNP	5 : 65288599 - 65288599 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	588	104
FAM135A	57579	broad.mit.edu	37	6	71232278	71232278	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:71232278C>T	ENST00000505769.1	+	12	1499	c.1092C>T	c.(1090-1092)taC>taT	p.Y364Y	FAM135A_ENST00000505868.1_Silent_p.Y364Y|FAM135A_ENST00000418814.2_Silent_p.Y364Y|FAM135A_ENST00000370479.3_Silent_p.Y347Y|FAM135A_ENST00000361499.3_Silent_p.Y364Y|FAM135A_ENST00000457062.2_Silent_p.Y347Y			Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	364										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCATTGCATACCAGGAACTTC	0.333		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	117	115			NA	NA	6		NA											NA				71232278		2203	4300	6503	SO:0001819	synonymous_variant			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269	57579	57579			21084	protein-coding gene	gene with protein product			KIAA1411	KIAA1411	NA	10718198	Standard	NM_020819	NM_001105531	NA	Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000505769.1:c.1092C>T	6.37:g.71232278C>T		NA	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	37																																																																																				FAM135A-004	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000360643.1		+	ENST00000505769.1	Silent	SNP	6 : 71232278 - 71232278 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	509	122
FBXW2	26190	broad.mit.edu	37	9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:123527025G>A	ENST00000608872.1	-	8	1364	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	NA					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CTCTCTGTCCGCAAGTCCATG	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	105	105			NA	NA	9		NA											NA				123527025		1948	4154	6102	SO:0001583	missense			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402	NA	26190		F-boxes / WD-40 domains, WD repeat domain containing	13608	protein-coding gene	gene with protein product		609071	F-box and WD-40 domain protein 2		NA	10531035, 10828603	Standard		NM_012164	NA	Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1177C>T	9.37:g.123527025G>A	ENSP00000476369:p.Arg393Trp	NA	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	37	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972103	0.34754	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.19250	2.16;2.16	4.95	0.397	0.16314	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	L	0.47716	1.5	0.58432	D	0.999996	B;D;D	0.89917	0.107;1.0;0.999	B;D;D	0.75020	0.009;0.985;0.985	T	0.09443	-1.0674	10	0.72032	D	0.01	-9.1372	13.1259	0.59354	0.0:0.0:0.4582:0.5418	.	328;393;393	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	W	393;328;393	ENSP00000363036:R393W;ENSP00000341161:R328W	ENSP00000341161:R328W	R	-	1	2	FBXW2	122566846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	0.155000	0.19261	0.563000	0.77884	CGG	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000053834.2		-	ENST00000608872.1	Missense_Mutation	SNP	9 : 123527025 - 123527025 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	572	7
FIBCD1	84929	broad.mit.edu	37	9	133779512	133779512	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:133779512C>T	ENST00000372338.4	-	7	1567	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D	FIBCD1_ENST00000448616.1_Missense_Mutation_p.G442D|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Missense_Mutation_p.G284D	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	442	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GTACTGCCAGCCGGTCCAGGA	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	71	72			NA	NA	9		NA											NA				133779512		2203	4300	6503	SO:0001583	missense			AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720	84929	84929		Fibrinogen C domain containing	25922	protein-coding gene	gene with protein product		613357			NA	12975309	Standard	NM_032843	NM_001145106	NA	Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1325G>A	9.37:g.133779512C>T	ENSP00000361413:p.Gly442Asp	NA	A3KFK0|Q6UXK6|Q96SJ7	37	CCDS6937.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702186	0.88924	.	.	ENSG00000130720	ENST00000448616;ENST00000372338;ENST00000372337	D;D;D	0.82619	-1.63;-1.63;-1.63	4.66	4.66	0.58398	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92390	0.5920	10	0.66056	D	0.02	.	16.1061	0.81223	0.0:1.0:0.0:0.0	.	442	Q8N539	FBCD1_HUMAN	D	442;442;284	ENSP00000414501:G442D;ENSP00000361413:G442D;ENSP00000361412:G284D	ENSP00000361412:G284D	G	-	2	0	FIBCD1	132769333	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.967000	0.70403	2.138000	0.66242	0.455000	0.32223	GGC	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000054687.2		-	ENST00000372338.4	Missense_Mutation	SNP	9 : 133779512 - 133779512 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	413	5
FOXD4L1	200350	broad.mit.edu	37	2	114257073	114257073	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:114257073C>T	ENST00000306507.5	+	1	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	80					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C		1,4309		0,1,2154	45	65	59		240	-1	0	2		59	4,8362		0,4,4179	no	coding-synonymous	FOXD4L1	NM_012184.4		0,5,6333	TT,TC,CC	NA	0.0478,0.0232,0.0394		80/409	114257073	5,12671	2155	4183	6338	SO:0001819	synonymous_variant			AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492	200350	200350			18521	protein-coding gene	gene with protein product		611084			NA	12421752, 15233989	Standard	NM_012184	NM_012184	NA	Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.240C>T	2.37:g.114257073C>T		NA	B3KWN1|B9EGF3	37	CCDS2117.1																																																																																			FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254148.1		+	ENST00000306507.5	Silent	SNP	2 : 114257073 - 114257073 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	433	6
GABRA5	2558	broad.mit.edu	37	15	27128316	27128316	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:27128316G>A	ENST00000335625.5	+	5	1100	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R71H|GABRA5_ENST00000355395.5_Missense_Mutation_p.R71H	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	71					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTCAGAGCGCATCACTCAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	80	77			NA	NA	15		NA											NA				27128316		2147	4228	6375	SO:0001583	missense				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297	2558	2558		GABA receptors, Ligand-gated ion channels / GABA(A) receptors	4079	protein-coding gene	gene with protein product	GABA(A) receptor, alpha 5	137142			NA	1321750	Standard		NM_000810	NA	Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.212G>A	15.37:g.27128316G>A	ENSP00000335592:p.Arg71His	NA	A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	37	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426900	0.83667	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000555182;ENST00000400081;ENST00000554038;ENST00000554596;ENST00000554599;ENST00000554083	T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.13;-1.26;-1.26;-1.26	5.39	4.47	0.54385	Neurotransmitter-gated ion-channel ligand-binding (3);	0.318671	0.37857	N	0.001907	T	0.81054	0.4743	L	0.55481	1.735	0.36586	D	0.873815	D	0.58268	0.982	P	0.54372	0.75	D	0.86010	0.1500	10	0.72032	D	0.01	.	13.2492	0.60041	0.0765:0.0:0.9235:0.0	.	71	P31644	GBRA5_HUMAN	H	71;71;39;71;71;71;71;39	ENSP00000335592:R71H;ENSP00000347557:R71H;ENSP00000450653:R39H;ENSP00000382953:R71H;ENSP00000451527:R71H;ENSP00000450806:R71H;ENSP00000450717:R71H;ENSP00000450529:R39H	ENSP00000335592:R71H	R	+	2	0	GABRA5	24679409	0.996000	0.38824	0.989000	0.46669	0.806000	0.45545	3.505000	0.53356	1.405000	0.46838	0.555000	0.69702	CGC	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000415234.1		+	ENST00000335625.5	Missense_Mutation	SNP	15 : 27128316 - 27128316 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	223	4
GFAP	2670	broad.mit.edu	37	17	42990738	42990738	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:42990738C>T	ENST00000253408.5	-	4	744	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000435360.2_Missense_Mutation_p.A227T|GFAP_ENST00000586793.1_Missense_Mutation_p.A227T	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	227	Linker 12.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCTGGCTTGGCCACGTCAAGC	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	72	79			NA	NA	17		NA											NA				42990738		2203	4300	6503	SO:0001583	missense			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16					2670	2670		Intermediate filaments type III	4235	protein-coding gene	gene with protein product	intermediate filament protein	137780			NA	9693047	Standard	NM_002055	NM_002055	NA	Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.679G>A	17.37:g.42990738C>T	ENSP00000253408:p.Ala227Thr	NA	B2RD44|D3DX59|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	37	CCDS11491.1	.	.	.	.	.	.	.	.	.	.	C	6.948	0.544765	0.13312	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360	D;D	0.95853	-3.83;-3.83	4.93	2.92	0.33932	Filament (1);	0.204172	0.43110	D	0.000602	D	0.88644	0.6492	N	0.17674	0.51	0.30072	N	0.809996	B;B	0.13594	0.008;0.001	B;B	0.16289	0.015;0.007	T	0.82680	-0.0337	10	0.66056	D	0.02	.	4.7956	0.13270	0.4228:0.4185:0.0:0.1588	.	227;227	E9PAX3;P14136	.;GFAP_HUMAN	T	227;202;227	ENSP00000253408:A227T;ENSP00000403962:A227T	ENSP00000253408:A227T	A	-	1	0	GFAP	40346264	0.009000	0.17119	0.653000	0.29593	0.053000	0.15095	0.375000	0.20518	0.788000	0.33755	-0.181000	0.13052	GCC	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000448701.1		-	ENST00000253408.5	Missense_Mutation	SNP	17 : 42990738 - 42990738 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	406	5
GORASP2	26003	broad.mit.edu	37	2	171818252	171818252	+	Silent	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:171818252A>C	ENST00000234160.4	+	8	1718	c.903A>C	c.(901-903)acA>acC	p.T301T	GORASP2_ENST00000452526.2_Silent_p.T313T|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	301	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						CAGCTACTACATTACCAGGTA	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													231	195	207			NA	NA	2		NA											NA				171818252		2203	4300	6503	SO:0001819	synonymous_variant				CCDS33325.1	2q31.1	2012-09-20	2002-08-29		ENSG00000115806	ENSG00000115806	26003	26003			17500	protein-coding gene	gene with protein product		608693	golgi reassembly stacking protein 2, 55 kDa		NA	10487747	Standard		NM_015530	NA	Approved	GRASP55, GRS2, GOLPH6	uc002ugj.3	Q9H8Y8	OTTHUMG00000154072	ENST00000234160.4:c.903A>C	2.37:g.171818252A>C		NA	Q53TE3|Q96I74|Q96K84|Q9H946|Q9UFW4	37	CCDS33325.1																																																																																			GORASP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000333719.2		+	ENST00000234160.4	Silent	SNP	2 : 171818252 - 171818252 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	663	125
GPR133	283383	broad.mit.edu	37	12	131487822	131487822	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:131487822C>T	ENST00000376682.4	+	2	432	c.177C>T	c.(175-177)acC>acT	p.T59T	GPR133_ENST00000261654.5_Silent_p.T373T|GPR133_ENST00000535015.1_Silent_p.T405T			Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	373					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	76	81			NA	NA	12		NA											NA				131487822		2203	4300	6503	SO:0001819	synonymous_variant			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452	283383	283383		-, GPCR / Class B : Orphans	19893	protein-coding gene	gene with protein product		613639			NA		Standard	NM_198827	NM_198827	NA	Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000376682.4:c.177C>T	12.37:g.131487822C>T		NA	Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	37																																																																																				GPR133-005	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000399364.1		+	ENST00000376682.4	Silent	SNP	12 : 131487822 - 131487822 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	472	98
GPR149	344758	broad.mit.edu	37	3	154056055	154056055	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:154056055G>A	ENST00000389740.2	-	4	1728	c.1629C>T	c.(1627-1629)tcC>tcT	p.S543S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	543						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GGGCATAACCGGAACGCTGGG	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	81	81			NA	NA	3		NA											NA				154056055		1879	4100	5979	SO:0001819	synonymous_variant			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948	344758	344758		GPCR / Class A : Orphans	23627	protein-coding gene	gene with protein product					NA	12679517	Standard	XM_293580	NM_001038705	NA	Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1629C>T	3.37:g.154056055G>A		NA		37	CCDS43162.1																																																																																			GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000353430.1		-	ENST00000389740.2	Silent	SNP	3 : 154056055 - 154056055 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	585	5
ILF3	3609	broad.mit.edu	37	19	10793838	10793838	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:10793838G>A	ENST00000592763.1	+	13	1586	c.1586G>A	c.(1585-1587)gGc>gAc	p.G529D	ILF3_ENST00000407004.3_Missense_Mutation_p.G529D|ILF3_ENST00000250241.8_Missense_Mutation_p.G525D|ILF3_ENST00000590261.1_Missense_Mutation_p.G525D|ILF3_ENST00000449870.1_Missense_Mutation_p.G529D|ILF3_ENST00000589998.1_Missense_Mutation_p.G525D|ILF3_ENST00000588657.1_Missense_Mutation_p.G529D|ILF3_ENST00000420083.1_Missense_Mutation_p.G525D|ILF3_ENST00000318511.3_Missense_Mutation_p.G525D			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	525	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAAAGCACGGCAAGAACCCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	98	97			NA	NA	19		NA											NA				10793838		2203	4300	6503	SO:0001583	missense			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351	3609	3609			6038	protein-coding gene	gene with protein product	M-phase phosphoprotein 4	603182	interleukin enhancer binding factor 3, 90kD		NA	7519613, 8885239	Standard		NM_012218	NA	Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000592763.1:c.1586G>A	19.37:g.10793838G>A	ENSP00000465515:p.Gly529Asp	NA	A8K6F2|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	37		.	.	.	.	.	.	.	.	.	.	G	33	5.288199	0.95517	.	.	ENSG00000129351	ENST00000336059;ENST00000449870;ENST00000318511;ENST00000420083;ENST00000407004;ENST00000250241	T;T;T;T;T	0.18174	2.28;2.23;2.26;2.31;2.26	5.83	5.83	0.93111	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.113792	0.64402	D	0.000011	T	0.39572	0.1083	L	0.49126	1.545	0.80722	D	1	D;D;D;D;B;D	0.89917	1.0;0.998;0.999;0.999;0.176;0.992	D;D;D;D;B;P	0.91635	0.999;0.943;0.941;0.968;0.191;0.906	T	0.04467	-1.0949	10	0.87932	D	0	.	18.8865	0.92379	0.0:0.0:1.0:0.0	.	529;529;525;529;525;525	Q12906-4;G5E9M5;Q12906;Q12906-6;Q12906-2;Q12906-5	.;.;ILF3_HUMAN;.;.;.	D	525;529;525;525;529;525	ENSP00000404121:G529D;ENSP00000315205:G525D;ENSP00000405436:G525D;ENSP00000384660:G529D;ENSP00000250241:G525D	ENSP00000250241:G525D	G	+	2	0	ILF3	10654838	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.771000	0.98977	2.761000	0.94854	0.650000	0.86243	GGC	ILF3-004	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000452072.1		+	ENST00000592763.1	Missense_Mutation	SNP	19 : 10793838 - 10793838 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	594	5
IRS2	8660	broad.mit.edu	37	13	110434482	110434482	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:110434482C>T	ENST00000375856.3	-	1	4433	c.3919G>A	c.(3919-3921)Ggg>Agg	p.G1307R		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1307					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCGGCCCCCCGCACCCGCCG	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(100;613 2409 40847)							NA				0													7	11	10			NA	NA	13		NA											NA				110434482		2019	4064	6083	SO:0001583	missense			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950	8660	8660		Pleckstrin homology (PH) domain containing	6126	protein-coding gene	gene with protein product		600797			NA	9312143	Standard	NM_003749	NM_003749	NA	Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3919G>A	13.37:g.110434482C>T	ENSP00000365016:p.Gly1307Arg	NA	Q96RR2|Q9BZG0|Q9Y6I5	37	CCDS9510.1	.	.	.	.	.	.	.	.	.	.	C	10.84	1.464796	0.26335	.	.	ENSG00000185950	ENST00000375856	T	0.59906	0.23	4.12	3.25	0.37280	.	0.226724	0.22451	U	0.059897	T	0.35128	0.0921	N	0.24115	0.695	0.09310	N	0.999996	P	0.42961	0.795	B	0.28709	0.093	T	0.19257	-1.0311	10	0.51188	T	0.08	-15.5233	10.7615	0.46268	0.1915:0.8085:0.0:0.0	.	1307	Q9Y4H2	IRS2_HUMAN	R	1307	ENSP00000365016:G1307R	ENSP00000365016:G1307R	G	-	1	0	IRS2	109232483	0.998000	0.40836	0.189000	0.23252	0.049000	0.14656	1.090000	0.30902	0.910000	0.36722	0.462000	0.41574	GGG	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000045755.1		-	ENST00000375856.3	Missense_Mutation	SNP	13 : 110434482 - 110434482 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	149	26
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				7	Substitution - Missense(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)											112	104	107			NA	NA	13		NA											NA				41705440		2203	4300	6503	SO:0001583	missense			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572	89890	89890		BTB/POZ domain containing	25340	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_152903	NM_152903	NA	Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	NA	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000044657.1		-	ENST00000379485.1	Missense_Mutation	SNP	13 : 41705440 - 41705440 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	686	6
KIR2DL1	3802	broad.mit.edu	37	19	55284925	55284925	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:55284925C>T	ENST00000336077.6	+	3	251	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.R71C|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	71	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CGACACTTTGCGCCTCATTGG	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(72;624 1217 3963 34152 38303)							NA				0								A	CYS/ARG	0,4350		0,0,2175	103	92	96		211	-1.5	0	19		96	3,8387		1,1,4193	no	missense	KIR2DL1	NM_014218.2	180	1,1,6368	TT,TC,CC	NA	0.0358,0.0,0.0235		71/349	55284925	3,12737	2175	4195	6370	SO:0001583	missense			L41267	CCDS12904.1	19q13.4	2013-01-29			ENSG00000125498	ENSG00000125498	3802	3802		Killer cell immunoglobulin-like receptors, CD molecules, Immunoglobulin superfamily / Immunoglobulin-like domain containing	6329	protein-coding gene	gene with protein product		604936			NA	7749980, 7716543	Standard		NM_014218	NA	Approved	cl-42, nkat1, 47.11, p58.1, CD158A	uc002qhb.1	P43626	OTTHUMG00000065885	ENST00000336077.6:c.211C>T	19.37:g.55284925C>T	ENSP00000336769:p.Arg71Cys	NA	O43470	37	CCDS12904.1	.	.	.	.	.	.	.	.	.	.	C	4.125	0.021358	0.08006	0.0	3.58E-4	ENSG00000125498	ENST00000336077;ENST00000291633	T;T	0.22539	1.95;1.95	1.24	-1.49	0.08718	.	.	.	.	.	T	0.17408	0.0418	L	0.52126	1.63	0.09310	N	1	B;B	0.15473	0.013;0.004	B;B	0.19666	0.026;0.02	T	0.31251	-0.9950	9	0.59425	D	0.04	.	5.28	0.15670	0.0:0.6946:0.0:0.3054	.	71;71	Q6IST4;Q6H2H3	.;.	C	71	ENSP00000336769:R71C;ENSP00000291633:R71C	ENSP00000291633:R71C	R	+	1	0	KIR2DL1	59976737	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.387000	0.02535	-0.432000	0.07297	-0.745000	0.03516	CGC	KIR2DL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000141148.2		+	ENST00000336077.6	Missense_Mutation	SNP	19 : 55284925 - 55284925 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	899	7
KPRP	448834	broad.mit.edu	37	1	152732580	152732580	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:152732580C>T	ENST00000606109.1	+	1	544	c.516C>T	c.(514-516)tgC>tgT	p.C172C	KPRP_ENST00000368773.1_Silent_p.C172C			Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	172	Gln-rich.					cytoplasm		p.C172C(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCAGTGTGCCAGCCTCAGG	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)											119	121	120			NA	NA	1		NA											NA				152732580		2203	4300	6503	SO:0001819	synonymous_variant			AY960854	CCDS30862.1	1q21.3	2008-02-05	2007-02-02	2006-12-07	ENSG00000203786	ENSG00000203786	448834	448834			31823	protein-coding gene	gene with protein product		613260	chromosome 1 open reading frame 45	C1orf45	NA	16297201	Standard	NM_001025231	NM_001025231	NA	Approved		uc001fal.1	Q5T749	OTTHUMG00000012402	ENST00000606109.1:c.516C>T	1.37:g.152732580C>T		NA		37	CCDS30862.1																																																																																			KPRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000034522.2		+	ENST00000606109.1	Silent	SNP	1 : 152732580 - 152732580 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	590	5
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	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-HV-A7OL-Tumor-SM-5437C	133	33
KRT14	3861	broad.mit.edu	37	17	39740094	39740094	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:39740094C>T	ENST00000167586.6	-	4	931	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	282	Linker 12.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTTCAGAATGCGGCTCAGGTC	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4406		0,0,2203	183	153	163		845	3	1	17		163	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT14	NM_000526.4	29	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging	282/473	39740094	1,13005	2203	4300	6503	SO:0001583	missense			BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847	3861	3861		-, Intermediate filaments type I, keratins (acidic)	6416	protein-coding gene	gene with protein product	epidermolysis bullosa simplex, Dowling-Meara, Koebner	148066	keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)	EBS3, EBS4	NA	1717157, 16831889	Standard	NM_000526	NM_000526	NA	Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.845G>A	17.37:g.39740094C>T	ENSP00000167586:p.Arg282His	NA	Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	37	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195700	0.58126	0.0	1.16E-4	ENSG00000186847	ENST00000167586	T	0.77750	-1.12	5.04	3.04	0.35103	Prefoldin (1);Filament (1);	0.000000	0.49916	D	0.000135	D	0.83649	0.5300	M	0.74546	2.27	0.29322	N	0.867318	D	0.76494	0.999	D	0.73708	0.981	T	0.76589	-0.2904	10	0.62326	D	0.03	.	4.864	0.13598	0.156:0.612:0.0:0.2321	.	282	P02533	K1C14_HUMAN	H	282	ENSP00000167586:R282H	ENSP00000167586:R282H	R	-	2	0	KRT14	36993620	0.000000	0.05858	0.997000	0.53966	0.504000	0.33889	0.450000	0.21762	1.258000	0.44101	-0.119000	0.15052	CGC	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000257289.1		-	ENST00000167586.6	Missense_Mutation	SNP	17 : 39740094 - 39740094 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	763	6
LGMN	5641	broad.mit.edu	37	14	93199026	93199026	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:93199026C>T	ENST00000557434.1	-	2	291	c.106G>A	c.(106-108)Ggt>Agt	p.G36S	LGMN_ENST00000393218.2_Missense_Mutation_p.G36S|LGMN_ENST00000334869.4_Missense_Mutation_p.G36S|LGMN_ENST00000555699.1_Missense_Mutation_p.G36S			Q99538	LGMN_HUMAN	legumain	36					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		CCATTTGAACCTGCCACGATC	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	152	156			NA	NA	14		NA											NA				93199026		2203	4300	6503	SO:0001583	missense			D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600	5641	5641			9472	protein-coding gene	gene with protein product		602620	protease, cysteine, 1 (legumain)	PRSC1	NA	8893817, 9065484	Standard	NM_005606	NM_001008530	NA	Approved	LGMN1	uc001yaw.3	Q99538		ENST00000557434.1:c.106G>A	14.37:g.93199026C>T	ENSP00000452572:p.Gly36Ser	NA	O00123|Q9BTY1	37		.	.	.	.	.	.	.	.	.	.	C	19.46	3.832172	0.71258	.	.	ENSG00000100600	ENST00000555699;ENST00000334869;ENST00000557434;ENST00000334864;ENST00000262004;ENST00000393218;ENST00000539531;ENST00000535855;ENST00000553802;ENST00000554397;ENST00000554919;ENST00000554080;ENST00000553371	T;T;T;T;T;T;T;T;T	0.72942	0.48;0.4;0.52;0.4;0.51;0.38;0.38;-0.34;-0.7	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.87059	0.6083	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.999;0.996	D	0.90096	0.4181	10	0.62326	D	0.03	-23.6576	16.0812	0.81005	0.0:1.0:0.0:0.0	.	36;36;36	Q99538;Q86TV2;Q86TV3	LGMN_HUMAN;.;.	S	36;36;36;36;36;36;13;36;36;36;36;36;36	ENSP00000451861:G36S;ENSP00000334052:G36S;ENSP00000452572:G36S;ENSP00000376911:G36S;ENSP00000450854:G36S;ENSP00000450677:G36S;ENSP00000451916:G36S;ENSP00000452268:G36S;ENSP00000451797:G36S	ENSP00000262004:G36S	G	-	1	0	LGMN	92268779	1.000000	0.71417	0.146000	0.22360	0.387000	0.30353	6.348000	0.73009	2.086000	0.62901	0.313000	0.20887	GGT	LGMN-002	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000412287.1		-	ENST00000557434.1	Missense_Mutation	SNP	14 : 93199026 - 93199026 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	981	8
LUZP1	7798	broad.mit.edu	37	1	23418504	23418504	+	Missense_Mutation	SNP	G	G	A	rs146031719	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:23418504G>A	ENST00000302291.4	-	4	3052	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	LUZP1_ENST00000374623.3_Missense_Mutation_p.R751W|LUZP1_ENST00000314174.5_Missense_Mutation_p.R751W|LUZP1_ENST00000418342.1_Missense_Mutation_p.R751W			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	751						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GCTCTAGACCGCAACGCCTCT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	135	143	140		2251,2251	3.4	1	1	dbSNP_134	140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LUZP1	NM_001142546.1,NM_033631.3	101,101	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	probably-damaging,probably-damaging	751/1077,751/1077	23418504	2,13004	2203	4300	6503	SO:0001583	missense			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641	7798	7798			14985	protein-coding gene	gene with protein product		601422			NA	8812416	Standard	NM_033631	NM_033631	NA	Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2251C>T	1.37:g.23418504G>A	ENSP00000303758:p.Arg751Trp	NA	Q5TH93|Q8N4X3|Q8TEH1	37	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461067	0.63513	2.27E-4	1.16E-4	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	T;T;T;T	0.19105	2.37;2.37;2.37;2.17	5.27	3.37	0.38596	.	0.158849	0.29707	N	0.011415	T	0.19287	0.0463	L	0.57536	1.79	0.28033	N	0.93406	B;B	0.26876	0.083;0.162	B;B	0.21917	0.027;0.037	T	0.12604	-1.0541	10	0.51188	T	0.08	.	7.6254	0.28210	0.0802:0.0:0.6097:0.31	.	751;751	Q86V48-2;Q86V48	.;LUZP1_HUMAN	W	751	ENSP00000393460:R751W;ENSP00000363752:R751W;ENSP00000303758:R751W;ENSP00000313705:R751W	ENSP00000303758:R751W	R	-	1	2	LUZP1	23291091	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	2.382000	0.44345	1.211000	0.43351	0.485000	0.47835	CGG	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000008900.3		-	ENST00000302291.4	Missense_Mutation	SNP	1 : 23418504 - 23418504 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	882	6
LZTS1	11178	broad.mit.edu	37	8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D|LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													94	88	90			NA	NA	8		NA											NA				20112535		2203	4300	6503	SO:0001583	missense			AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337	11178	11178			13861	protein-coding gene	gene with protein product		606551	F37/Esophageal cancer-related gene-coding leucine-zipper motif		NA	10097140, 17349584	Standard	NM_021020	NM_021020	NA	Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.158G>A	8.37:g.20112535C>T	ENSP00000370981:p.Gly53Asp	NA	D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	37	CCDS6015.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.830957|2.830957	0.50845|0.50845	.|.	.|.	ENSG00000061337|ENSG00000061337	ENST00000334294|ENST00000381569;ENST00000265801;ENST00000522290;ENST00000360248	.|T;T;T	.|0.24151	.|2.2;2.2;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.457888	.|0.25601	.|N	.|0.029548	.|T	.|0.17577	.|0.0422	N|N	0.14661|0.14661	0.345|0.345	0.42195|0.42195	D|D	0.991743|0.991743	.|P;P	.|0.41366	.|0.589;0.747	.|B;B	.|0.39258	.|0.295;0.255	.|T	.|0.02844	.|-1.1103	.|10	.|0.62326	.|D	.|0.03	.|-41.4352	13.5254|13.5254	0.61593|0.61593	0.0:0.8439:0.1561:0.0|0.0:0.8439:0.1561:0.0	.|.	.|53;53	.|Q9Y250-4;Q9Y250	.|.;LZTS1_HUMAN	.|D	-1|53	.|ENSP00000370981:G53D;ENSP00000265801:G53D;ENSP00000429263:G53D	.|ENSP00000265801:G53D	.|G	-|-	.|2	.|0	LZTS1|LZTS1	20156815|20156815	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	2.376000|2.376000	0.44292|0.44292	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	.|GGC	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000214122.1		-	ENST00000381569.1	Missense_Mutation	SNP	8 : 20112535 - 20112535 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	526	5
MAP4K1	11184	broad.mit.edu	37	19	39100239	39100239	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:39100239A>G	ENST00000591517.1	-	13	1031	c.1003T>C	c.(1003-1005)Tgt>Cgt	p.C335R	MAP4K1_ENST00000586296.1_Splice_Site_p.C335R|MAP4K1_ENST00000423454.2_5'UTR|MAP4K1_ENST00000396857.2_Missense_Mutation_p.C335R|MAP4K1_ENST00000589002.1_5'UTR|MAP4K1_ENST00000589130.1_Missense_Mutation_p.C331R	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	335					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TACTCACGACAGCAGTCTGCA	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													52	55	54			NA	NA	19		NA											NA				39100239		1970	4177	6147	SO:0001583	missense			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	11184	11184	2.7.11.1	Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases	6863	protein-coding gene	gene with protein product	hematopoietic progenitor kinase 1	601983			NA	8824585	Standard	NM_001042600	NM_001042600	NA	Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1003T>C	19.37:g.39100239A>G	ENSP00000465039:p.Cys335Arg	NA		37	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	10.01	1.234740	0.22626	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	T	0.71341	-0.56	4.25	0.715	0.18186	Protein kinase-like domain (1);	0.941218	0.09011	N	0.861554	T	0.50769	0.1635	L	0.29908	0.895	0.29651	N	0.843925	B;B	0.21905	0.062;0.057	B;B	0.17979	0.02;0.014	T	0.40251	-0.9573	10	0.11794	T	0.64	.	3.8459	0.08934	0.4194:0.2013:0.0:0.3793	.	335;335	Q92918-2;Q92918	.;M4K1_HUMAN	R	335	ENSP00000380066:C335R	ENSP00000221409:C335R	C	-	1	0	MAP4K1	43792079	0.569000	0.26643	0.816000	0.32577	0.990000	0.78478	0.529000	0.23019	0.176000	0.19873	0.459000	0.35465	TGT	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453390.1		-	ENST00000591517.1	Missense_Mutation	SNP	19 : 39100239 - 39100239 G PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	162	47
MEPCE	56257	broad.mit.edu	37	7	100030663	100030663	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100030663G>A	ENST00000310512.2	+	2	2181	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H	MEPCE_ENST00000414441.1_Missense_Mutation_p.R129H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	598	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTGAAGCGCATGTTTCGC	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	81	84			NA	NA	7		NA											NA				100030663		2203	4300	6503	SO:0001583	missense			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834	56257	56257			20247	protein-coding gene	gene with protein product		611478	bin3, bicoid-interacting 3, homolog (Drosophila)	BCDIN3	NA	12358911, 17643375	Standard		NM_019606	NA	Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.1793G>A	7.37:g.100030663G>A	ENSP00000308546:p.Arg598His	NA	Q9NPD4	37	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	33	5.259612	0.95368	.	.	ENSG00000146834	ENST00000414441;ENST00000425355;ENST00000310512	T;T	0.47528	0.84;0.88	5.15	5.15	0.70609	Bin3-type S-adenosyl-L-methionine binding domain (1);Bicoid-interacting 3 (1);	0.000000	0.64402	D	0.000001	T	0.66665	0.2812	M	0.69248	2.105	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.67405	-0.5679	10	0.51188	T	0.08	-18.4044	16.4721	0.84114	0.0:0.0:1.0:0.0	.	598	Q7L2J0	MEPCE_HUMAN	H	129;129;598	ENSP00000400875:R129H;ENSP00000308546:R598H	ENSP00000308546:R598H	R	+	2	0	MEPCE	99868599	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.992000	0.93519	2.553000	0.86117	0.462000	0.41574	CGC	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339135.1		+	ENST00000310512.2	Missense_Mutation	SNP	7 : 100030663 - 100030663 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	562	6
MIA3	375056	broad.mit.edu	37	1	222802593	222802593	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:222802593C>T	ENST00000344922.5	+	4	2056	c.2031C>T	c.(2029-2031)ctC>ctT	p.L677L	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L677L|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	677					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.L677L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGATAAGGCTCTCTGAGGGAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	pancreas(1)											69	71	70			NA	NA	1		NA											NA				222802593		1929	4124	6053	SO:0001819	synonymous_variant				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305	375056	375056			24008	protein-coding gene	gene with protein product	C219 reactive peptide, transport and golgi organization	613455			NA	15183315	Standard	NM_198551	XM_005273121	NA	Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2031C>T	1.37:g.222802593C>T		NA	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	37	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	2.388	-0.340457	0.05243	.	.	ENSG00000154305	ENST00000354906	T	0.19806	2.12	4.36	-6.82	0.01698	.	.	.	.	.	T	0.06690	0.0171	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.34354	-0.9832	6	0.10111	T	0.7	.	3.8314	0.08876	0.0778:0.2549:0.3136:0.3537	.	.	.	.	F	260	ENSP00000355062:L260F	ENSP00000355062:L260F	L	+	1	0	MIA3	220869216	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-5.357000	0.00128	-2.045000	0.00910	-2.178000	0.00318	CTC	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000091489.4		+	ENST00000344922.5	Silent	SNP	1 : 222802593 - 222802593 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	567	99
MUC4	4585	broad.mit.edu	37	3	195517556	195517556	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:195517556T>A	ENST00000463781.3	-	2	1354	c.895A>T	c.(895-897)Aca>Tca	p.T299S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T299S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	304					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGATCAAATGTTACTAAGGCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													185	173	176			NA	NA	3		NA											NA				195517556		1997	4171	6168	SO:0001583	missense			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113	4585	4585		Mucins	7514	protein-coding gene	gene with protein product		158372	mucin 4, tracheobronchial		NA	1673336	Standard	NM_018406	NM_004532	NA	Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.895A>T	3.37:g.195517556T>A	ENSP00000417498:p.Thr299Ser	NA	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.636	0.485876	0.12641	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.54071	0.59;0.62	3.57	-2.63	0.06133	.	.	.	.	.	T	0.33030	0.0849	L	0.47190	1.495	0.09310	N	1	B;B	0.32781	0.259;0.384	B;B	0.25759	0.063;0.048	T	0.20140	-1.0284	9	0.15066	T	0.55	.	4.0135	0.09632	0.4013:0.1048:0.0:0.4939	.	299;304	E7ESK3;Q99102	.;MUC4_HUMAN	S	299;299;273	ENSP00000417498:T299S;ENSP00000420243:T299S	ENSP00000376209:T273S	T	-	1	0	MUC4	197001951	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.781000	0.04648	-0.425000	0.07371	-0.416000	0.06073	ACA	MUC4-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324081.6		-	ENST00000463781.3	Missense_Mutation	SNP	3 : 195517556 - 195517556 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	459	7
MYO9A	4649	broad.mit.edu	37	15	72338352	72338352	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:72338352C>T	ENST00000564571.1	-	2	712	c.553G>A	c.(553-555)Gtt>Att	p.V185I	MYO9A_ENST00000424560.1_Missense_Mutation_p.V185I|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.V185I|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000356056.5_Missense_Mutation_p.V185I			B2RTY4	MYO9A_HUMAN	myosin IXA	185	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGGTTAATAACTATTAGAATA	0.328		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													64	68	67			NA	NA	15		NA											NA				72338352		2199	4297	6496	SO:0001583	missense			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933	4649	4649		Myosins / Myosin superfamily : Class IX	7608	protein-coding gene	gene with protein product		604875			NA	10409426	Standard	NM_006901	NM_006901	NA	Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000564571.1:c.553G>A	15.37:g.72338352C>T	ENSP00000456192:p.Val185Ile	NA	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	37		.	.	.	.	.	.	.	.	.	.	c	19.42	3.825008	0.71143	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.88201	-2.35;-2.35;-2.35	5.8	5.8	0.92144	Myosin head, motor domain (3);	.	.	.	.	D	0.89037	0.6601	L	0.52573	1.65	0.50171	D	0.999851	P;B;B	0.35139	0.486;0.38;0.268	B;B;B	0.39339	0.268;0.197;0.297	D	0.88674	0.3197	9	0.87932	D	0	.	20.1223	0.97967	0.0:1.0:0.0:0.0	.	185;185;185	B2RTY4-3;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	I	185	ENSP00000348349:V185I;ENSP00000399162:V185I;ENSP00000398250:V185I	ENSP00000261864:V185I	V	-	1	0	MYO9A	70125406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.017000	0.70805	2.749000	0.94314	0.650000	0.86243	GTT	MYO9A-015	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000420905.1		-	ENST00000564571.1	Missense_Mutation	SNP	15 : 72338352 - 72338352 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	440	82
MYOM2	9172	broad.mit.edu	37	8	2041801	2041801	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:2041801G>A	ENST00000262113.4	+	17	2149	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M	MYOM2_ENST00000523438.1_Missense_Mutation_p.V95M	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	670	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCAGGTTCGTGGTGCACGG	0.498		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													141	115	124			NA	NA	8		NA											NA				2041801		2203	4300	6503	SO:0001583	missense				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448	9172	9172		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	7614	protein-coding gene	gene with protein product		603509	myomesin (M-protein) 2 (165kD), myomesin (M-protein) 2, 165kDa		NA		Standard	NM_003970	XM_006716237	NA	Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2008G>A	8.37:g.2041801G>A	ENSP00000262113:p.Val670Met	NA	Q7Z3Y2	37	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095427	0.76870	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.57595	0.39;0.39	5.44	4.57	0.56435	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.065948	0.64402	D	0.000013	T	0.70307	0.3209	M	0.76328	2.33	0.41362	D	0.987435	D	0.76494	0.999	D	0.65443	0.935	T	0.75238	-0.3388	10	0.72032	D	0.01	.	14.5057	0.67750	0.071:0.0:0.929:0.0	.	670	P54296	MYOM2_HUMAN	M	670;95	ENSP00000262113:V670M;ENSP00000428396:V95M	ENSP00000262113:V670M	V	+	1	0	MYOM2	2029208	1.000000	0.71417	0.913000	0.36048	0.847000	0.48162	6.115000	0.71566	1.298000	0.44778	0.655000	0.94253	GTG	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000251249.1		+	ENST00000262113.4	Missense_Mutation	SNP	8 : 2041801 - 2041801 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	429	70
NCAM1	4684	broad.mit.edu	37	11	113078690	113078690	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:113078690C>T	ENST00000533760.1	+	7	1127	c.528C>T	c.(526-528)ggC>ggT	p.G176G	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.G293G|NCAM1_ENST00000316851.7_Silent_p.G284G	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	294	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		ACAAGGCTGGCGAGCAGGATG	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	11		NA											NA				113078690		2067	4214	6281	SO:0001819	synonymous_variant				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294	4684	4684		CD molecules, Immunoglobulin superfamily / I-set domain containing, Fibronectin type III domain containing	7656	protein-coding gene	gene with protein product		116930			NA		Standard	NM_000615	NM_000615	NA	Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.528C>T	11.37:g.113078690C>T		NA	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	37																																																																																				NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000394068.2		+	ENST00000533760.1	Silent	SNP	11 : 113078690 - 113078690 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	103	20
NELFA	7469	broad.mit.edu	37	4	1993351	1993351	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:1993351G>A	ENST00000382882.3	-	2	1452	c.335C>T	c.(334-336)cCg>cTg	p.P112L	NELFA_ENST00000542778.1_Intron|NELFA_ENST00000411638.2_Missense_Mutation_p.P101L					negative elongation factor complex member A	NA											NA						GCCTGTGTCCGGAAAGGACTT	0.522		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	LEU/PRO	0,4406		0,0,2203	115	124	121		335	4.4	0.9	4		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	WHSC2	NM_005663.4	98	0,1,6502	AA,AG,GG	NA	0.0116,0.0,0.0077	probably-damaging	112/540	1993351	1,13005	2203	4300	6503	SO:0001583	missense			AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049	7469	7469			12768	protein-coding gene	gene with protein product		606026	Wolf-Hirschhorn syndrome candidate 2	WHSC2	NA	10409432	Standard	NM_005663	NM_005663	NA	Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000382882.3:c.335C>T	4.37:g.1993351G>A	ENSP00000372335:p.Pro112Leu	NA		37	CCDS3358.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.83|18.83	3.707264|3.707264	0.68615|0.68615	0.0|0.0	1.16E-4|1.16E-4	ENSG00000185049|ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000411638;ENST00000431323;ENST00000455762|ENST00000411649	T;T;T;T|.	0.69926|.	1.63;-0.44;1.63;1.63|.	5.29|5.29	4.45|4.45	0.53987|0.53987	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75287|0.75287	0.3829|0.3829	M|M	0.79926|0.79926	2.475|2.475	0.80722|0.80722	D|D	1|1	P|.	0.50819|.	0.939|.	B|.	0.39027|.	0.288|.	T|T	0.76806|0.76806	-0.2823|-0.2823	10|5	0.41790|.	T|.	0.15|.	-16.7598|-16.7598	13.9996|13.9996	0.64424|0.64424	0.0734:0.0:0.9266:0.0|0.0734:0.0:0.9266:0.0	.|.	101|.	Q9H3P2|.	NELFA_HUMAN|.	L|W	112;105;101;117;31|85	ENSP00000372335:P112L;ENSP00000387647:P105L;ENSP00000399165:P101L;ENSP00000395761:P117L|.	ENSP00000372335:P112L|.	P|R	-|-	2|1	0|2	WHSC2|WHSC2	1963149|1963149	1.000000|1.000000	0.71417|0.71417	0.866000|0.866000	0.34008|0.34008	0.096000|0.096000	0.18686|0.18686	9.651000|9.651000	0.98493|0.98493	1.233000|1.233000	0.43693|0.43693	0.462000|0.462000	0.41574|0.41574	CCG|CGG	NELFA-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000205240.3		-	ENST00000382882.3	Missense_Mutation	SNP	4 : 1993351 - 1993351 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	1134	9
NPIPA5	100288332	broad.mit.edu	37	16	15457755	15457755	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:15457755A>T	ENST00000360151.4	-	8	813	c.814T>A	c.(814-816)Tat>Aat	p.Y272N		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5	NA											NA						GGAAGGGGATAGAGCAGACGC	0.512		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:0001583	missense				CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793	100288332	100288332			41980	protein-coding gene	gene with protein product					NA		Standard		NM_001277325	NA	Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.814T>A	16.37:g.15457755A>T	ENSP00000433597:p.Tyr272Asn	NA		37	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	1.287	-0.608637	0.03717	.	.	ENSG00000183793	ENST00000360151	T	0.40476	1.03	.	.	.	.	.	.	.	.	T	0.20292	0.0488	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.23547	-1.0185	4	0.27785	T	0.31	.	.	.	.	.	.	.	.	N	272	ENSP00000433597:Y272N	ENSP00000433597:Y272N	Y	-	1	0	RP11-82O18.1	15365256	.	.	.	.	.	.	.	.	.	.	.	.	TAT	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389069.1		-	ENST00000360151.4	Missense_Mutation	SNP	16 : 15457755 - 15457755 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	462	6
NSDHL	50814	broad.mit.edu	37	X	152037520	152037520	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:152037520C>T	ENST00000370274.3	+	8	1176	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W	NSDHL_ENST00000440023.1_Missense_Mutation_p.R328W	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	328					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CACACCCATGCGGGTCGCACT	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	61	66			NA	NA	X		NA											NA				152037520		2203	4300	6503	SO:0001583	missense			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	50814	50814	1.1.1.170	Short chain dehydrogenase/reductase superfamily / Extended SDR fold	13398	protein-coding gene	gene with protein product	short chain dehydrogenase/reductase family 31E, member 1	300275			NA	10710235, 12837764, 19027726	Standard	NM_015922	NM_015922	NA	Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.982C>T	X.37:g.152037520C>T	ENSP00000359297:p.Arg328Trp	NA	D3DWT6|O00344	37	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	C	13.10	2.136915	0.37728	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.84298	-1.83;-1.83	4.12	3.24	0.37175	.	0.000000	0.85682	D	0.000000	D	0.91284	0.7252	M	0.82323	2.585	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	D	0.90694	0.4615	10	0.87932	D	0	-28.041	9.0154	0.36166	0.3959:0.6041:0.0:0.0	.	328	Q15738	NSDHL_HUMAN	W	328	ENSP00000359297:R328W;ENSP00000391854:R328W	ENSP00000359297:R328W	R	+	1	2	NSDHL	151788176	1.000000	0.71417	0.081000	0.20488	0.248000	0.25809	2.568000	0.45965	0.820000	0.34516	0.544000	0.68410	CGG	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060927.1		+	ENST00000370274.3	Missense_Mutation	SNP	X : 152037520 - 152037520 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	210	4
NUMA1	4926	broad.mit.edu	37	11	71724163	71724163	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:71724163C>T	ENST00000393695.3	-	15	4717	c.4386G>A	c.(4384-4386)cgG>cgA	p.R1462R	NUMA1_ENST00000358965.6_Silent_p.R1462R|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1462					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCAGAAACTGCCGGCCAAGGT	0.622		NA	T	RARA	APL									NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		11	11q13	4926	nuclear mitotic apparatus protein 1		L	0													93	97	95			NA	NA	11		NA											NA				71724163		2200	4293	6493	SO:0001819	synonymous_variant			Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497	NA	4926			8059	protein-coding gene	gene with protein product		164009			NA	8406455	Standard		NM_006185	NA	Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4386G>A	11.37:g.71724163C>T		NA	Q14981	37	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	6.533	0.466673	0.12402	.	.	ENSG00000137497	ENST00000541584	.	.	.	5.14	4.23	0.50019	.	.	.	.	.	T	0.59335	0.2186	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56974	-0.7890	4	.	.	.	.	8.995	0.36048	0.0:0.7729:0.1485:0.0786	.	.	.	.	D	307	.	.	G	-	2	0	NUMA1	71401811	0.917000	0.31117	1.000000	0.80357	0.933000	0.57130	0.333000	0.19768	1.395000	0.46643	0.655000	0.94253	GGC	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395769.1		-	ENST00000393695.3	Silent	SNP	11 : 71724163 - 71724163 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	902	8
ODC1	4953	broad.mit.edu	37	2	10583672	10583672	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:10583672C>T	ENST00000234111.4	-	7	1120	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ODC1_ENST00000405333.1_Missense_Mutation_p.D204N	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	204					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	GTCTCAGGATCGGTACAGCCG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													77	80	79			NA	NA	2		NA											NA				10583672		2203	4300	6503	SO:0001583	missense				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4953	4953	4.1.1.17		8109	protein-coding gene	gene with protein product		165640			NA		Standard		NM_002539	NA	Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.610G>A	2.37:g.10583672C>T	ENSP00000234111:p.Asp204Asn	NA	Q6LDS9	37	CCDS1672.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174909	0.78564	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.52754	0.65;0.65	5.79	4.88	0.63580	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.48447	0.1500	L	0.61218	1.895	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.46512	-0.9186	10	0.51188	T	0.08	.	16.9563	0.86260	0.0:0.873:0.127:0.0	.	204	P11926	DCOR_HUMAN	N	204;204;75	ENSP00000234111:D204N;ENSP00000385333:D204N	ENSP00000234111:D204N	D	-	1	0	ODC1	10501123	1.000000	0.71417	0.912000	0.35992	0.934000	0.57294	4.734000	0.62043	2.746000	0.94184	0.655000	0.94253	GAT	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000206896.2		-	ENST00000234111.4	Missense_Mutation	SNP	2 : 10583672 - 10583672 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	507	89
OR11L1	391189	broad.mit.edu	37	1	248004586	248004586	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248004586C>A	ENST00000355784.2	-	1	668	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A205S(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACAGCACGGCAATTGACAGG	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											90	92	91			NA	NA	1		NA											NA				248004586		2203	4300	6503	SO:0001583	missense			AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591	391189	391189		GPCR / Class A : Olfactory receptors	14998	protein-coding gene	gene with protein product					NA		Standard	NM_001001959	NM_001001959	NA	Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.613G>T	1.37:g.248004586C>A	ENSP00000348033:p.Ala205Ser	NA		37	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399533	0.25291	.	.	ENSG00000197591	ENST00000355784	T	0.37058	1.22	4.27	3.35	0.38373	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34268	U	0.004118	T	0.25494	0.0620	N	0.17312	0.475	0.09310	N	1	P	0.42993	0.797	P	0.47346	0.544	T	0.04495	-1.0947	10	0.46703	T	0.11	.	5.0642	0.14574	0.0:0.5142:0.2962:0.1896	.	205	Q8NGX0	O11L1_HUMAN	S	205	ENSP00000348033:A205S	ENSP00000348033:A205S	A	-	1	0	OR11L1	246071209	0.000000	0.05858	0.013000	0.15412	0.246000	0.25737	-0.791000	0.04599	1.145000	0.42336	0.543000	0.68304	GCC	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096850.1		-	ENST00000355784.2	Missense_Mutation	SNP	1 : 248004586 - 248004586 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	429	18
OR2L2	26246	broad.mit.edu	37	1	248202246	248202246	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:248202246G>A	ENST00000366479.2	+	1	773	c.677G>A	c.(676-678)cGc>cAc	p.R226H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTGTCTACCGCATGCACTCT	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											245	216	226			NA	NA	1		NA											NA				248202246		2203	4300	6503	SO:0001583	missense			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663	26246	26246		GPCR / Class A : Olfactory receptors	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12	NA	1370859	Standard	NM_001004686	NM_001004686	NA	Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.677G>A	1.37:g.248202246G>A	ENSP00000355435:p.Arg226His	NA	Q2M3T5	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	0.602	-0.828549	0.02734	.	.	ENSG00000203663	ENST00000366479	T	0.00262	8.4	1.9	-3.73	0.04398	GPCR, rhodopsin-like superfamily (1);	0.845232	0.09637	N	0.775456	T	0.00144	0.0004	L	0.47716	1.5	0.09310	N	1	B	0.15719	0.014	B	0.17979	0.02	T	0.07121	-1.0789	10	0.13470	T	0.59	.	9.4994	0.39008	0.261:0.0:0.739:0.0	.	226	Q8NH16	OR2L2_HUMAN	H	226	ENSP00000355435:R226H	ENSP00000355435:R226H	R	+	2	0	OR2L2	246268869	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-1.737000	0.01843	-1.044000	0.03254	0.194000	0.17425	CGC	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000096871.1		+	ENST00000366479.2	Missense_Mutation	SNP	1 : 248202246 - 248202246 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	778	7
OSBPL8	114882	broad.mit.edu	37	12	76791663	76791663	+	Silent	SNP	T	T	C	rs35436760	byFrequency	TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:76791663T>C	ENST00000261183.3	-	8	962	c.483A>G	c.(481-483)ctA>ctG	p.L161L	OSBPL8_ENST00000393250.4_Silent_p.L119L|OSBPL8_ENST00000393249.2_Silent_p.L119L	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	161	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TCCAGCTCTTTAGAGTACCAC	0.363		NA											T	2	9e-04	0.002	NA	2184	NA	0.9998	,	,	NA	3e-04	0.0013	NA	NA	8e-04	0.8795	EXOME	NA	NA	5e-04	SNP								NA				0								T	,	32,4374	36.8+/-68.6	0,32,2171	78	71	73		357,483	-4	0.9	12	dbSNP_126	73	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	OSBPL8	NM_001003712.1,NM_020841.4	,	0,36,6467	CC,CT,TT	NA	0.0465,0.7263,0.2768	,	119/848,161/890	76791663	36,12970	2203	4300	6503	SO:0001819	synonymous_variant			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039	114882	114882		Oxysterol binding proteins, Pleckstrin homology (PH) domain containing	16396	protein-coding gene	gene with protein product		606736			NA	1735225, 17991739	Standard	NM_020841	NM_020841	NA	Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.483A>G	12.37:g.76791663T>C		NA	A8K1T2|Q52LQ3|Q8WXP8|Q9P277	37	CCDS31862.1																																																																																			OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406357.1		-	ENST00000261183.3	Silent	SNP	12 : 76791663 - 76791663 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	313	63
PABPC1L	80336	broad.mit.edu	37	20	43545506	43545506	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:43545506G>A	ENST00000217073.2	+	3	497	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PABPC1L_ENST00000537323.1_Missense_Mutation_p.R166H|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R166H|PABPC1L_ENST00000217074.4_Missense_Mutation_p.R166H			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	166	RRM 2.						nucleotide binding|RNA binding	p.R166H(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTGAATGACCGCAAAGTGTGA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)											81	74	76			NA	NA	20		NA											NA				43545506		1568	3582	5150	SO:0001583	missense			AK026760	CCDS42878.1	20q12-q13.1	2013-02-12	2007-11-21	2007-11-21	ENSG00000101104	ENSG00000101104	80336	80336		RNA binding motif (RRM) containing	15797	protein-coding gene	gene with protein product			chromosome 20 open reading frame 119	C20orf119	NA	11549316	Standard		NM_001124756	NA	Approved	dJ1069P2.3, PABPC1L1, ePAB	uc010ggv.1	Q4VXU2	OTTHUMG00000032553	ENST00000217073.2:c.497G>A	20.37:g.43545506G>A	ENSP00000217073:p.Arg166His	NA		37	CCDS42878.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878785	0.72294	.	.	ENSG00000101104	ENST00000217074;ENST00000255136;ENST00000537323;ENST00000217073	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	5.11	4.15	0.48705	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.70787	2.145	0.58432	D	0.999999	P	0.43431	0.807	B	0.28638	0.092	D	0.90597	0.4541	10	0.66056	D	0.02	.	13.9611	0.64180	0.0751:0.0:0.9249:0.0	.	166	Q4VXU2	PAP1L_HUMAN	H	166	ENSP00000217074:R166H;ENSP00000255136:R166H;ENSP00000445661:R166H;ENSP00000217073:R166H	ENSP00000217073:R166H	R	+	2	0	PABPC1L	42978920	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.896000	0.87350	2.375000	0.81037	0.563000	0.77884	CGC	PABPC1L-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000127816.2		+	ENST00000217073.2	Missense_Mutation	SNP	20 : 43545506 - 43545506 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	448	7
PCDH11X	27328	broad.mit.edu	37	X	91090548	91090548	+	Silent	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:91090548A>G	ENST00000373094.1	+	1	890	c.45A>G	c.(43-45)gcA>gcG	p.A15A	PCDH11X_ENST00000373088.1_Silent_p.A15A|PCDH11X_ENST00000298274.8_Silent_p.A15A|PCDH11X_ENST00000361655.2_Silent_p.A15A|PCDH11X_ENST00000504220.2_Silent_p.A15A|PCDH11X_ENST00000361724.1_Silent_p.A15A|PCDH11X_ENST00000406881.1_Silent_p.A15A|PCDH11X_ENST00000373097.1_Silent_p.A15A|PCDH11X_ENST00000395337.2_Silent_p.A15A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	15					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCTGCTAGCATGCGTGGTGT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(38;925 1092 2571 38200 45895)							NA				0													139	108	119			NA	NA	X		NA											NA				91090548		2203	4300	6503	SO:0001819	synonymous_variant			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290	27328	27328		Cadherins / Protocadherins : Non-clustered	8656	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 119	300246	protocadherin 11	PCDH11	NA	10644456	Standard	NM_032969	NM_001168360	NA	Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.45A>G	X.37:g.91090548A>G		NA	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	37	CCDS14461.1																																																																																			PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057436.1		+	ENST00000373094.1	Silent	SNP	X : 91090548 - 91090548 G PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	208	6
PCDHGA6	56109	broad.mit.edu	37	5	140755802	140755802	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:140755802C>T	ENST00000517434.1	+	1	2152	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1			protocadherin gamma subfamily A, 6	NA										breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACTGCAGCGCTGGCACAA	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													85	94	91			NA	NA	5		NA											NA				140755802		2203	4300	6503	SO:0001583	missense			AF152513	CCDS54926.1, CCDS75335.1	5q31	2010-01-26				ENSG00000253731	56109	56109		Cadherins / Protocadherins : Clustered	8704	other	protocadherin		606293			NA	10380929	Standard	NM_018919	NM_018919	NA	Approved	PCDH-GAMMA-A6		Q9Y5G7		ENST00000517434.1:c.2152C>T	5.37:g.140755802C>T	ENSP00000429601:p.Arg718Cys	NA		37	CCDS54926.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.632413	0.29068	.	.	ENSG00000253731	ENST00000517434	T	0.23147	1.92	5.15	3.22	0.36961	.	2.171190	0.04336	U	0.353247	T	0.40448	0.1117	M	0.86651	2.83	0.28148	N	0.929514	B;B	0.32010	0.351;0.047	B;B	0.29176	0.099;0.066	T	0.49679	-0.8914	10	0.72032	D	0.01	.	12.5336	0.56131	0.3755:0.6245:0.0:0.0	.	718;718	Q9Y5G7-2;Q9Y5G7	.;PCDG6_HUMAN	C	718	ENSP00000429601:R718C	ENSP00000429601:R718C	R	+	1	0	PCDHGA6	140735986	0.000000	0.05858	0.961000	0.40146	0.199000	0.23934	0.469000	0.22067	1.511000	0.48818	0.655000	0.94253	CGC	PCDHGA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000374743.1		+	ENST00000517434.1	Missense_Mutation	SNP	5 : 140755802 - 140755802 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	726	142
PCOLCE	5118	broad.mit.edu	37	7	100204241	100204241	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:100204241C>T	ENST00000223061.5	+	6	1208	c.928C>T	c.(928-930)Cct>Tct	p.P310S		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	310					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGAGGAATCTCCTTCAGCCCC	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	32	31			NA	NA	7		NA											NA				100204241		2203	4300	6503	SO:0001583	missense			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333	5118	5118			8738	protein-coding gene	gene with protein product	procollagen, type 1, COOH-terminal proteinase enhancer, procollagen C-proteinase enhancer 1	600270			NA	8824813, 9799793	Standard	NM_002593	NM_002593	NA	Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.928C>T	7.37:g.100204241C>T	ENSP00000223061:p.Pro310Ser	NA	B2R9E1|O14550	37	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429560	0.25726	.	.	ENSG00000106333	ENST00000223061	T	0.19938	2.11	4.69	3.78	0.43462	.	0.932278	0.09080	N	0.851413	T	0.11580	0.0282	N	0.08118	0	0.18873	N	0.999988	B	0.23937	0.094	B	0.16722	0.016	T	0.22800	-1.0206	10	0.48119	T	0.1	-3.7786	7.9145	0.29810	0.0:0.8816:0.0:0.1184	.	310	Q15113	PCOC1_HUMAN	S	310	ENSP00000223061:P310S	ENSP00000223061:P310S	P	+	1	0	PCOLCE	100042177	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	1.043000	0.30316	1.134000	0.42165	0.407000	0.27541	CCT	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345285.1		+	ENST00000223061.5	Missense_Mutation	SNP	7 : 100204241 - 100204241 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	182	34
PEPD	5184	broad.mit.edu	37	19	33991872	33991872	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:33991872G>A	ENST00000244137.7	-	4	398	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PEPD_ENST00000436370.3_Intron|PEPD_ENST00000397032.4_Missense_Mutation_p.A122V	NM_000285.3	NP_000276.2	P12955	PEPD_HUMAN	peptidase D	NA					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity	p.A122V(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					GTCGTCCACGGCATACTTCTC	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											137	144	142			NA	NA	19		NA											NA				33991872		2042	4206	6248	SO:0001583	missense			BC015027	CCDS42544.1, CCDS54244.1, CCDS54245.1	19q13.11	2008-02-05				ENSG00000124299	5184	5184	3.4.13.9		8840	protein-coding gene	gene with protein product	prolidase	613230			NA	2925654, 1972707	Standard	NM_000285	NM_000285	NA	Approved		uc002nur.4	P12955		ENST00000244137.7:c.365C>T	19.37:g.33991872G>A	ENSP00000244137:p.Ala122Val	NA	Q8TBN9|Q9BT75	37	CCDS42544.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.068639	0.36470	.	.	ENSG00000124299	ENST00000244137;ENST00000397032	T;T	0.77098	-1.07;-1.07	5.39	5.39	0.77823	Peptidase M24B, X-Pro dipeptidase/aminopeptidase P N-terminal (1);	0.148969	0.64402	D	0.000010	T	0.74427	0.3715	L	0.58925	1.835	0.80722	D	1	B;B	0.17038	0.02;0.017	B;B	0.19666	0.026;0.009	T	0.69450	-0.5142	10	0.32370	T	0.25	-26.8327	14.6656	0.68904	0.0:0.0:1.0:0.0	.	122;122	A8MX47;P12955	.;PEPD_HUMAN	V	122	ENSP00000244137:A122V;ENSP00000380226:A122V	ENSP00000244137:A122V	A	-	2	0	PEPD	38683712	1.000000	0.71417	0.503000	0.27626	0.454000	0.32378	5.746000	0.68681	2.510000	0.84645	0.462000	0.41574	GCC	PEPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451432.3		-	ENST00000244137.7	Missense_Mutation	SNP	19 : 33991872 - 33991872 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	680	6
PFKM	5213	broad.mit.edu	37	12	48536575	48536575	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr12:48536575G>A	ENST00000340802.6	+	20	2101	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	PFKM_ENST00000359794.5_Missense_Mutation_p.R555H|PFKM_ENST00000547587.1_Missense_Mutation_p.R555H|PFKM_ENST00000312352.7_Missense_Mutation_p.R555H|PFKM_ENST00000551804.1_Missense_Mutation_p.R524H|PFKM_ENST00000395233.2_Missense_Mutation_p.R524H	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	555					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTGTGACCGCATCAAGCAG	0.488		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													130	117	121			NA	NA	12		NA											NA				48536575		2203	4300	6503	SO:0001583	missense			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					5213	5213	2.7.1.11		8877	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 122	610681	phosphofructokinase, polypeptide X	PFKX	NA		Standard	NM_000289	NM_001166686	NA	Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000340802.6:c.1877G>A	12.37:g.48536575G>A	ENSP00000345771:p.Arg626His	NA	Q16814|Q16815	37	CCDS53786.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.795504	0.90453	.	.	ENSG00000152556	ENST00000340802;ENST00000359794;ENST00000395233;ENST00000551804;ENST00000547587;ENST00000312352;ENST00000546465	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.21	4.31	0.51392	Phosphofructokinase domain (2);	0.049858	0.85682	D	0.000000	D	0.91462	0.7305	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72982	0.979;0.953;0.933	D	0.93406	0.6764	10	0.62326	D	0.03	-12.3227	15.1275	0.72494	0.0:0.0:0.8573:0.1427	.	524;555;626	P08237-2;P08237;Q6ZTT1	.;K6PF_HUMAN;.	H	626;555;524;524;555;555;170	ENSP00000345771:R626H;ENSP00000352842:R555H;ENSP00000378656:R524H;ENSP00000448177:R524H;ENSP00000449426:R555H;ENSP00000309438:R555H;ENSP00000446519:R170H	ENSP00000309438:R555H	R	+	2	0	PFKM	46822842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.758000	0.85224	1.541000	0.49316	0.655000	0.94253	CGC	PFKM-001	PUTATIVE	downstream_ATG|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000406484.1		+	ENST00000340802.6	Missense_Mutation	SNP	12 : 48536575 - 48536575 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	615	7
POM121L12	285877	broad.mit.edu	37	7	53104235	53104235	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr7:53104235G>T	ENST00000408890.4	+	1	887	c.871G>T	c.(871-873)Gct>Tct	p.A291S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	291										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CACCCAGTCTGCTGGCCCCTT	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													42	46	45			NA	NA	7		NA											NA				53104235		1997	4169	6166	SO:0001583	missense				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900	285877	285877			25369	protein-coding gene	gene with protein product			POM121 membrane glycoprotein-like 12		NA		Standard	NM_182595	NM_182595	NA	Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.871G>T	7.37:g.53104235G>T	ENSP00000386133:p.Ala291Ser	NA	Q8NDI9	37	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	9.797	1.179487	0.21787	.	.	ENSG00000221900	ENST00000408890	T	0.26810	1.71	1.78	0.86	0.19042	.	.	.	.	.	T	0.24122	0.0584	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.66602	0.945	T	0.12578	-1.0542	9	0.87932	D	0	.	6.0476	0.19768	0.0:0.3261:0.6739:0.0	.	291	Q8N7R1	P1L12_HUMAN	S	291	ENSP00000386133:A291S	ENSP00000386133:A291S	A	+	1	0	POM121L12	53071729	0.000000	0.05858	0.018000	0.16275	0.002000	0.02628	-0.523000	0.06230	0.316000	0.23135	-0.304000	0.09214	GCT	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342656.1		+	ENST00000408890.4	Missense_Mutation	SNP	7 : 53104235 - 53104235 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	461	67
PRUNE2	158471	broad.mit.edu	37	9	79438590	79438590	+	Silent	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr9:79438590T>C	ENST00000376718.3	-	6	837	c.714A>G	c.(712-714)ggA>ggG	p.G238G	PRUNE2_ENST00000376713.3_Silent_p.G238G|PRUNE2_ENST00000428286.1_5'UTR	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	238					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTTTATTTCTCCATCTGACA	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													162	134	144			NA	NA	9		NA											NA				79438590		2203	4300	6503	SO:0001819	synonymous_variant			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772	158471	158471			25209	protein-coding gene	gene with protein product	olfaxin	610691	chromosome 9 open reading frame 65, KIAA0367	C9orf65, KIAA0367	NA	16288218	Standard	NM_138818	NM_015225	NA	Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.714A>G	9.37:g.79438590T>C		NA	B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	37	CCDS47982.1																																																																																			PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000052730.2		-	ENST00000376718.3	Silent	SNP	9 : 79438590 - 79438590 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	650	102
PSME4	23198	broad.mit.edu	37	2	54120082	54120082	+	Missense_Mutation	SNP	A	A	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:54120082A>T	ENST00000404125.1	-	36	4109	c.4054T>A	c.(4054-4056)Ttt>Att	p.F1352I	PSME4_ENST00000421748.2_Missense_Mutation_p.F496I	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1352					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.F1238V(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCATCATCAAAATTCCTGAAT	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	pancreas(1)											69	70	69			NA	NA	2		NA											NA				54120082		2203	4300	6503	SO:0001583	missense			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878	23198	23198		Proteasome (prosome, macropain) subunits	20635	protein-coding gene	gene with protein product		607705			NA	7584044, 12093752	Standard	XM_040158	NM_014614	NA	Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4054T>A	2.37:g.54120082A>T	ENSP00000384211:p.Phe1352Ile	NA	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	A	23.4	4.417319	0.83449	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.64438	-0.1;-0.1	5.51	5.51	0.81932	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73233	0.3561	M	0.72118	2.19	0.80722	D	1	D;D;P	0.59357	0.985;0.959;0.954	P;P;P	0.59357	0.856;0.647;0.721	T	0.70230	-0.4929	10	0.15952	T	0.53	.	15.6258	0.76855	1.0:0.0:0.0:0.0	.	727;496;1352	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	I	496;1352	ENSP00000410830:F496I;ENSP00000384211:F1352I	ENSP00000384211:F1352I	F	-	1	0	PSME4	53973586	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.339000	0.96797	2.105000	0.64084	0.454000	0.30748	TTT	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000324163.1		-	ENST00000404125.1	Missense_Mutation	SNP	2 : 54120082 - 54120082 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	329	59
RASSF2	9770	broad.mit.edu	37	20	4771183	4771183	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:4771183G>A	ENST00000379400.3	-	7	646	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.R151C	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	151					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TTGCCACGGCGACGCACCCCA	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(158;1891 3343 50738)							NA				0													101	76	84			NA	NA	20		NA											NA				4771183		2203	4300	6503	SO:0001583	missense			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265	9770	9770			9883	protein-coding gene	gene with protein product	centromere protein 34	609492			NA	8724849, 15806169	Standard	NM_014737	NM_014737	NA	Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.451C>T	20.37:g.4771183G>A	ENSP00000368710:p.Arg151Cys	NA	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097623	0.76870	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.16897	2.31;2.31	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.44329	0.1288	M	0.85041	2.73	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.45381	-0.9265	10	0.87932	D	0	.	12.5495	0.56218	0.0:0.0:0.8336:0.1664	.	151	P50749	RASF2_HUMAN	C	151	ENSP00000368710:R151C;ENSP00000368684:R151C	ENSP00000368684:R151C	R	-	1	0	RASSF2	4719183	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.709000	0.61867	2.706000	0.92434	0.563000	0.77884	CGC	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000077828.1		-	ENST00000379400.3	Missense_Mutation	SNP	20 : 4771183 - 4771183 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	214	56
RFPL1	5988	broad.mit.edu	37	22	29834846	29834846	+	Silent	SNP	C	C	T	rs61734572		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr22:29834846C>T	ENST00000354373.2	+	1	275	c.66C>T	c.(64-66)tgC>tgT	p.C22C	RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	22							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TTCCCTTGTGCACTTTTCCCC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													104	100	102			NA	NA	22		NA											NA				29834846		2203	4300	6503	SO:0001819	synonymous_variant			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250	5988	5988		RING-type (C3HC4) zinc fingers	9977	protein-coding gene	gene with protein product		605968			NA	10508838	Standard	NM_021026	NM_021026	NA	Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.66C>T	22.37:g.29834846C>T		NA	Q6IC06|Q9UJ97	37	CCDS13857.2																																																																																			RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000318719.1		+	ENST00000354373.2	Silent	SNP	22 : 29834846 - 29834846 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	503	6
RGPD3	653489	broad.mit.edu	37	2	107032411	107032411	+	Missense_Mutation	SNP	T	T	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:107032411T>G	ENST00000409886.3	-	21	5046	c.4959A>C	c.(4957-4959)gaA>gaC	p.E1653D	RGPD3_ENST00000304514.7_Missense_Mutation_p.E1653D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1653					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAACCAATTCTTCTTTAGTAA	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													101	77	85			NA	NA	2		NA											NA				107032411		670	1543	2213	SO:0001583	missense				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165	653489	653489		Tetratricopeptide (TTC) repeat domain containing	32416	protein-coding gene	gene with protein product		612706			NA	15710750, 15815621	Standard	XM_929931	NM_001144013	NA	Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.4959A>C	2.37:g.107032411T>G	ENSP00000386588:p.Glu1653Asp	NA	B8ZZM4	37	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	4.697	0.129520	0.08981	.	.	ENSG00000153165	ENST00000541826;ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.47869	0.83;0.83	0.701	0.701	0.18104	.	.	.	.	.	T	0.35335	0.0928	N	0.08118	0	0.23016	N	0.998425	P	0.52463	0.953	P	0.53988	0.739	T	0.16276	-1.0408	9	0.62326	D	0.03	-0.566	5.6646	0.17689	0.0:0.0:0.0:1.0	.	1653	A6NKT7	RGPD3_HUMAN	D	27;1653;1020;1653	ENSP00000386588:E1653D;ENSP00000303659:E1653D	ENSP00000303659:E1653D	E	-	3	2	RGPD3	106398843	1.000000	0.71417	0.997000	0.53966	0.156000	0.22039	0.557000	0.23454	0.561000	0.29186	0.138000	0.15974	GAA	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329975.1		-	ENST00000409886.3	Missense_Mutation	SNP	2 : 107032411 - 107032411 G PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	296	47
RNF43	54894	broad.mit.edu	37	17	56448270	56448270	+	Splice_Site	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:56448270A>G	ENST00000584437.1	-	2	2331		c.e2+1		BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Splice_Site|RNF43_ENST00000577716.1_Splice_Site|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000407977.2_Splice_Site|RNF43_ENST00000581868.1_Splice_Site|RNF43_ENST00000583753.1_Intron			Q68DV7	RNF43_HUMAN	ring finger protein 43	NA						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGTGAGTCTACCTTGCTAGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													53	49	51			NA	NA	17		NA											NA				56448270		2203	4300	6503	SO:0001630	splice_region_variant				CCDS11607.1	17q23.2	2013-01-09					54894	54894		RING-type (C3HC4) zinc fingers	18505	protein-coding gene	gene with protein product		612482			NA		Standard	NM_017763	NM_017763	NA	Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.375+1T>C	17.37:g.56448270A>G		NA	A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	37	CCDS11607.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384458	0.82792	.	.	ENSG00000108375	ENST00000407977	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6985	0.69139	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RNF43	53803269	1.000000	0.71417	0.997000	0.53966	0.837000	0.47467	5.913000	0.69957	2.066000	0.61787	0.533000	0.62120	.	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000444713.1	Intron	-	ENST00000584437.1	Splice_Site	SNP	17 : 56448270 - 56448270 G PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	403	129
RRAGD	58528	broad.mit.edu	37	6	90097155	90097155	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr6:90097155G>A	ENST00000369415.4	-	2	579	c.303C>T	c.(301-303)tgC>tgT	p.C101C	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	101					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	p.C101C(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		CATCTTCCCGGCATATCTTAT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	large_intestine(1)											158	174	169			NA	NA	6		NA											NA				90097155		2203	4300	6503	SO:0001819	synonymous_variant			AF272036	CCDS5022.1	6q15-q16	2008-02-05			ENSG00000025039	ENSG00000025039	58528	58528			19903	protein-coding gene	gene with protein product		608268			NA	11073942	Standard	NM_021244	NM_021244	NA	Approved	DKFZP761H171, bA11D8.2.1	uc003pnd.4	Q9NQL2	OTTHUMG00000015200	ENST00000369415.4:c.303C>T	6.37:g.90097155G>A		NA	A8K184|Q7L8F9|Q9NPG0	37	CCDS5022.1																																																																																			RRAGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041484.1		-	ENST00000369415.4	Silent	SNP	6 : 90097155 - 90097155 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	990	8
RYR3	6263	broad.mit.edu	37	15	33954961	33954961	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:33954961C>T	ENST00000389232.4	+	35	5300	c.5230C>T	c.(5230-5232)Cgg>Tgg	p.R1744W	RYR3_ENST00000415757.3_Missense_Mutation_p.R1744W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1744	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R1744R(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATGATGTTCGGCAGATCCT	0.552		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - coding silent(1)	lung(1)						T	TRP/ARG	1,4261		0,1,2130	131	139	136		5230	3.5	0.9	15		136	0,8502		0,0,4251	no	missense	RYR3	NM_001036.3	101	0,1,6381	TT,TC,CC	NA	0.0,0.0235,0.0078	probably-damaging	1744/4871	33954961	1,12763	2131	4251	6382	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5230C>T	15.37:g.33954961C>T	ENSP00000373884:p.Arg1744Trp	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	c	15.06	2.720660	0.48728	2.35E-4	0.0	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.74421	-0.84;-0.84	5.41	3.54	0.40534	.	0.359807	0.23604	N	0.046403	T	0.74030	0.3663	L	0.38175	1.15	0.09310	N	0.999998	D;D	0.61697	0.988;0.99	P;P	0.57502	0.766;0.822	T	0.65030	-0.6267	10	0.87932	D	0	.	8.8635	0.35272	0.3151:0.6124:0.0:0.0724	.	1744;1744	Q15413-2;Q15413	.;RYR3_HUMAN	W	1744	ENSP00000373884:R1744W;ENSP00000399610:R1744W	ENSP00000354735:R1744W	R	+	1	2	RYR3	31742253	0.938000	0.31826	0.868000	0.34077	0.894000	0.52154	1.918000	0.40006	0.862000	0.35528	-0.119000	0.15052	CGG	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 33954961 - 33954961 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	419	66
RYR3	6263	broad.mit.edu	37	15	34130099	34130099	+	Missense_Mutation	SNP	T	T	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr15:34130099T>C	ENST00000389232.4	+	89	11988	c.11918T>C	c.(11917-11919)aTg>aCg	p.M3973T	RYR3_ENST00000415757.3_Missense_Mutation_p.M3968T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3973					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGAATGACATGTTTAATTAC	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													138	137	138			NA	NA	15		NA											NA				34130099		1962	4145	6107	SO:0001583	missense				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838	6263	6263		Ion channels / Ryanodine receptors, EF-hand domain containing	10485	protein-coding gene	gene with protein product		180903			NA	8276408	Standard		NM_001036	NA	Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.11918T>C	15.37:g.34130099T>C	ENSP00000373884:p.Met3973Thr	NA	O15175|Q15412	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	13.01	2.109599	0.37242	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.81739	-1.53	5.4	5.4	0.78164	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	N	0.12831	0.26	0.53005	D	0.99996	P;B	0.52316	0.952;0.012	P;B	0.54499	0.754;0.014	T	0.76389	-0.2977	10	0.30854	T	0.27	.	15.5941	0.76566	0.0:0.0:0.0:1.0	.	3968;3973	Q15413-2;Q15413	.;RYR3_HUMAN	T	3973;3969	ENSP00000373884:M3973T	ENSP00000354735:M3969T	M	+	2	0	RYR3	31917391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.871000	0.69628	2.272000	0.75746	0.450000	0.29827	ATG	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000417514.1		+	ENST00000389232.4	Missense_Mutation	SNP	15 : 34130099 - 34130099 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	796	154
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chrX:17770059C>T	ENST00000380043.3	+	6	1075	c.747C>T	c.(745-747)tgC>tgT	p.C249C	SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													377	317	337			NA	NA	X		NA											NA				17770059		2203	4300	6503	SO:0001819	synonymous_variant				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634	6322	6322		Sterile alpha motif (SAM) domain containing	10580	protein-coding gene	gene with protein product		300227	sex comb on midleg (Drosophila)-like 1		NA	9570953	Standard	NM_006746	XM_005274578	NA	Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380043.3:c.747C>T	X.37:g.17770059C>T		NA	B0FZN6|B2RA08|Q5H968|Q5H969	37	CCDS14182.2																																																																																			SCML1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000060493.1		+	ENST00000380043.3	Silent	SNP	X : 17770059 - 17770059 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	961	7
SFTPC	6440	broad.mit.edu	37	8	22019355	22019355	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr8:22019355G>A	ENST00000524255.1	+	1	36	c.14G>A	c.(13-15)aGc>aAc	p.S5N	SFTPC_ENST00000521315.1_Missense_Mutation_p.S5N|SFTPC_ENST00000318561.3_Missense_Mutation_p.S5N|SFTPC_ENST00000520605.1_Missense_Mutation_p.S5N|SFTPC_ENST00000437090.2_Missense_Mutation_p.S5N|SFTPC_ENST00000522109.1_Missense_Mutation_p.S5N			P11686	PSPC_HUMAN	surfactant protein C	5					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GATGTGGGCAGCAAAGAGGTC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													164	188	180			NA	NA	8		NA											NA				22019355		2168	4261	6429	SO:0001583	missense				CCDS43722.1, CCDS55209.1	8p21	2012-10-10	2008-08-26		ENSG00000168484	ENSG00000168484	6440	6440		BRICHOS domain containing	10802	protein-coding gene	gene with protein product	BRICHOS domain containing 6	178620	surfactant, pulmonary-associated protein C	SFTP2	NA	1859376, 16709565	Standard	NM_003018	NM_003018	NA	Approved	SP-C, PSP-C, SMDP2, BRICD6	uc003xay.4	P11686	OTTHUMG00000163775	ENST00000524255.1:c.14G>A	8.37:g.22019355G>A	ENSP00000429552:p.Ser5Asn	NA	A6XNE4|B2RE00|P11687|Q12793|Q7Z5D0	37		.	.	.	.	.	.	.	.	.	.	G	21.8	4.206747	0.79127	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296;ENST00000518615	D;D;D;T;D;T;T;D	0.94723	-3.5;-3.5;-3.5;0.36;-3.5;0.93;0.44;-3.5	4.96	4.05	0.47172	Surfactant protein C, N-terminal propeptide (1);	0.110508	0.41396	D	0.000900	D	0.95214	0.8448	L	0.51422	1.61	0.26652	N	0.97208	P;P;P;D;D	0.69078	0.873;0.939;0.896;0.978;0.997	P;P;P;P;D	0.79108	0.599;0.795;0.649;0.795;0.992	D	0.88648	0.3180	10	0.39692	T	0.17	-2.5092	10.3782	0.44094	0.0:0.2154:0.7846:0.0	.	5;5;5;5;5	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	N	5	ENSP00000316152:S5N;ENSP00000430410:S5N;ENSP00000407931:S5N;ENSP00000430266:S5N;ENSP00000429496:S5N;ENSP00000429552:S5N;ENSP00000429619:S5N;ENSP00000428817:S5N	ENSP00000316152:S5N	S	+	2	0	SFTPC	22075300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.198000	0.42705	2.564000	0.86499	0.655000	0.94253	AGC	SFTPC-007	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000375370.1		+	ENST00000524255.1	Missense_Mutation	SNP	8 : 22019355 - 22019355 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	535	6
SFXN4	119559	broad.mit.edu	37	10	120914629	120914629	+	Missense_Mutation	SNP	G	G	A	rs151157939		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr10:120914629G>A	ENST00000355697.2	-	11	696	c.677C>T	c.(676-678)gCg>gTg	p.A226V	SFXN4_ENST00000330036.6_Missense_Mutation_p.A217V|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	226					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GTCCATGACCGCAATCCCCTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	148	124	132		677	2.4	0.8	10	dbSNP_134	132	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFXN4	NM_213649.1	64	0,2,6501	AA,AG,GG	NA	0.0116,0.0227,0.0154	possibly-damaging	226/338	120914629	2,13004	2203	4300	6503	SO:0001583	missense				CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605	119559	119559		Sideroflexins	16088	protein-coding gene	gene with protein product		615564			NA	14756423	Standard	XM_058406	NM_213649	NA	Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.677C>T	10.37:g.120914629G>A	ENSP00000347924:p.Ala226Val	NA	Q6WSU4|Q86TD9	37	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	9.568	1.120310	0.20877	2.27E-4	1.16E-4	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T;T	0.30714	1.52;1.52;1.52	4.77	2.38	0.29361	.	0.608708	0.17108	N	0.186736	T	0.19005	0.0456	L	0.36672	1.1	0.09310	N	1	P	0.47677	0.899	B	0.38755	0.281	T	0.08806	-1.0704	10	0.33940	T	0.23	-8.9942	5.8839	0.18870	0.0:0.0913:0.1753:0.7334	.	226	Q6P4A7	SFXN4_HUMAN	V	226;217;109;110	ENSP00000347924:A226V;ENSP00000333200:A217V;ENSP00000358127:A110V	ENSP00000333200:A217V	A	-	2	0	SFXN4	120904619	0.189000	0.23263	0.799000	0.32177	0.166000	0.22503	0.232000	0.17891	0.867000	0.35654	-0.281000	0.10026	GCG	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000050642.3		-	ENST00000355697.2	Missense_Mutation	SNP	10 : 120914629 - 120914629 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	417	5
SHANK2	22941	broad.mit.edu	37	11	70332955	70332955	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:70332955G>A	ENST00000409161.1	-	9	1654	c.1655C>T	c.(1654-1656)gCc>gTc	p.A552V	SHANK2_ENST00000449833.2_Missense_Mutation_p.A553V|SHANK2_ENST00000338508.4_Missense_Mutation_p.A1149V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A769V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	769					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTGGGCGTGGCACTCGGCAT	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													31	36	34			NA	NA	11		NA											NA				70332955		2200	4289	6489	SO:0001583	missense			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105	22941	22941		Sterile alpha motif (SAM) domain containing, Ankyrin repeat domain containing	14295	protein-coding gene	gene with protein product		603290	cortactin binding protein 1	CORTBP1	NA	10506216	Standard	NM_012309	XM_005277930	NA	Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000409161.1:c.1655C>T	11.37:g.70332955G>A	ENSP00000386491:p.Ala552Val	NA	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	37		.	.	.	.	.	.	.	.	.	.	G	0.003	-2.403109	0.00195	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	4.93	4.01	0.46588	.	0.553055	0.21123	N	0.079793	T	0.27489	0.0675	L	0.27053	0.805	0.28455	N	0.916148	B;B;B	0.14012	0.0;0.003;0.009	B;B;B	0.13407	0.004;0.006;0.009	T	0.15378	-1.0439	10	0.22109	T	0.4	.	9.1801	0.37136	0.1649:0.0:0.8351:0.0	.	769;1148;553	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	V	553;552;427;1149;769;787;772	ENSP00000399423:A553V;ENSP00000386491:A552V;ENSP00000402944:A427V;ENSP00000345193:A1149V;ENSP00000394536:A769V;ENSP00000294018:A772V	ENSP00000294018:A772V	A	-	2	0	SHANK2	70010603	0.876000	0.30132	0.002000	0.10522	0.013000	0.08279	4.880000	0.63107	1.070000	0.40811	0.561000	0.74099	GCC	SHANK2-001	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000259184.1		-	ENST00000409161.1	Missense_Mutation	SNP	11 : 70332955 - 70332955 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	446	5
SLC12A7	10723	broad.mit.edu	37	5	1081769	1081769	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr5:1081769C>T	ENST00000264930.5	-	9	1263	c.1220G>A	c.(1219-1221)aGc>aAc	p.S407N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	407					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGGCAGTGCGCTGGCACGGCT	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	87	91			NA	NA	5		NA											NA				1081769		2203	4300	6503	SO:0001583	missense			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504	10723	10723		Solute carriers	10915	protein-coding gene	gene with protein product		604879			NA	10347194	Standard	NM_006598	NM_006598	NA	Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1220G>A	5.37:g.1081769C>T	ENSP00000264930:p.Ser407Asn	NA	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	37	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	4.580	0.107775	0.08780	.	.	ENSG00000113504	ENST00000264930	D	0.84442	-1.85	4.09	1.77	0.24775	.	1.016290	0.07831	N	0.961315	T	0.77765	0.4179	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58713	-0.7588	10	0.15066	T	0.55	.	8.0261	0.30438	0.0:0.5903:0.3043:0.1054	.	407	Q9Y666	S12A7_HUMAN	N	407	ENSP00000264930:S407N	ENSP00000264930:S407N	S	-	2	0	SLC12A7	1134769	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.155000	0.16362	0.686000	0.31488	0.491000	0.48974	AGC	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000366446.2		-	ENST00000264930.5	Missense_Mutation	SNP	5 : 1081769 - 1081769 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	412	5
SLC52A3	113278	broad.mit.edu	37	20	744268	744268	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:744268C>T	ENST00000381944.3	-	3	1188	c.947G>A	c.(946-948)gGc>gAc	p.G316D	SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.G316D			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	316					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity				NA						GGGCAGCATGCCGTTGGTGAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													137	111	120			NA	NA	20		NA											NA				744268		2203	4300	6503	SO:0001583	missense			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276	113278	113278		Solute carriers	16187	protein-coding gene	gene with protein product	hypothetical protein LOC113278	613350	chromosome 20 open reading frame 54	C20orf54	NA	11780052, 19122205	Standard	NM_033409	NM_033409	NA	Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000381944.3:c.947G>A	20.37:g.744268C>T	ENSP00000371370:p.Gly316Asp	NA	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	37		.	.	.	.	.	.	.	.	.	.	C	26.7	4.764578	0.89932	.	.	ENSG00000101276	ENST00000217254;ENST00000381944	T;T	0.80909	-1.43;-1.43	5.07	5.07	0.68467	.	0.046804	0.85682	D	0.000000	D	0.91012	0.7173	M	0.90542	3.125	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.65773	0.897;0.938	D	0.92984	0.6409	10	0.87932	D	0	-18.2595	17.0351	0.86473	0.0:1.0:0.0:0.0	.	316;316	Q9NQ40-2;Q9NQ40	.;RFT2_HUMAN	D	316	ENSP00000217254:G316D;ENSP00000371370:G316D	ENSP00000217254:G316D	G	-	2	0	C20orf54	692268	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	5.995000	0.70631	2.359000	0.80004	0.561000	0.74099	GGC	SLC52A3-004	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000077485.2		-	ENST00000381944.3	Missense_Mutation	SNP	20 : 744268 - 744268 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	584	5
SPHKAP	80309	broad.mit.edu	37	2	228855826	228855826	+	Missense_Mutation	SNP	G	G	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:228855826G>T	ENST00000392056.3	-	11	4895	c.4849C>A	c.(4849-4851)Cca>Aca	p.P1617T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1588T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1617						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGACACTCTGGCTCCAGGTCA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													47	49	48			NA	NA	2		NA											NA				228855826		2203	4300	6503	SO:0001583	missense				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820	80309	80309		A-kinase anchor proteins	30619	protein-coding gene	gene with protein product	sphingosine kinase type 1-interacting protein	611646			NA	12080051, 11214970	Standard	NM_030623	NM_030623	NA	Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4849C>A	2.37:g.228855826G>T	ENSP00000375909:p.Pro1617Thr	NA	Q68DA3|Q68DR8|Q9C0I5	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.053706	0.75960	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.05996	3.36;3.36	6.17	6.17	0.99709	A-kinase anchor 110kDa, C-terminal (1);	0.167578	0.52532	D	0.000066	T	0.24353	0.0590	M	0.78049	2.395	0.48341	D	0.999631	D;D	0.76494	0.999;0.999	D;D	0.74674	0.961;0.984	T	0.00043	-1.2223	10	0.44086	T	0.13	.	13.0796	0.59107	0.0723:0.0:0.9277:0.0	.	1617;1588	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1617;1588	ENSP00000375909:P1617T;ENSP00000339886:P1588T	ENSP00000339886:P1588T	P	-	1	0	SPHKAP	228564070	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	4.992000	0.63889	2.941000	0.99782	0.655000	0.94253	CCA	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000331750.1		-	ENST00000392056.3	Missense_Mutation	SNP	2 : 228855826 - 228855826 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	349	71
ST6GAL1	6480	broad.mit.edu	37	3	186769122	186769122	+	Silent	SNP	G	G	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:186769122G>C	ENST00000169298.3	+	5	1367	c.693G>C	c.(691-693)ctG>ctC	p.L231L	ST6GAL1_ENST00000457772.2_5'UTR|ST6GAL1_ENST00000448044.1_Silent_p.L231L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	231					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCATTCGCCTGATGAACTCTC	0.453		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													107	95	99			NA	NA	3		NA											NA				186769122		2203	4300	6503	SO:0001819	synonymous_variant			X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	6480	6480	2.4.99.1		10860	protein-coding gene	gene with protein product	ST6Gal I	109675	sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)	SIAT1	NA	2408023	Standard	NM_173216	NM_003032	NA	Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.693G>C	3.37:g.186769122G>C		NA	A8KA14|D3DNV3	37	CCDS3285.1																																																																																			ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000344399.1		+	ENST00000169298.3	Silent	SNP	3 : 186769122 - 186769122 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	267	26
STAB1	23166	broad.mit.edu	37	3	52551596	52551596	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52551596G>A	ENST00000321725.6	+	44	4670	c.4594G>A	c.(4594-4596)Ggg>Agg	p.G1532R		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1532	EGF-like 12.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGTTACAGCGGGGATGGCAT	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	51	50			NA	NA	3		NA											NA				52551596		2202	4299	6501	SO:0001583	missense			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327	23166	23166			18628	protein-coding gene	gene with protein product	MS-1 antigen, fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1, common lymphatic endothelial and vascular endothelial receptor-1	608560			NA	11829752, 12077138	Standard	NM_015136	XM_005264973	NA	Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4594G>A	3.37:g.52551596G>A	ENSP00000312946:p.Gly1532Arg	NA	A7E297|Q8IUH0|Q8IUH1|Q93072	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.965659	0.74131	.	.	ENSG00000010327	ENST00000321725	D	0.93953	-3.32	4.81	4.81	0.61882	EGF domain, merozoite surface protein 1-like (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.485095	0.20593	N	0.089304	D	0.96445	0.8840	M	0.81942	2.565	0.46336	D	0.998995	D	0.89917	1.0	D	0.72982	0.979	D	0.96640	0.9473	10	0.62326	D	0.03	.	14.9699	0.71226	0.0:0.0:1.0:0.0	.	1532	Q9NY15	STAB1_HUMAN	R	1532	ENSP00000312946:G1532R	ENSP00000312946:G1532R	G	+	1	0	STAB1	52526636	1.000000	0.71417	0.984000	0.44739	0.352000	0.29268	3.707000	0.54838	2.380000	0.81148	0.655000	0.94253	GGG	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000351380.2		+	ENST00000321725.6	Missense_Mutation	SNP	3 : 52551596 - 52551596 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	392	71
STON2	85439	broad.mit.edu	37	14	81743580	81743580	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:81743580G>A	ENST00000555447.1	-	6	2487	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	STON2_ENST00000267540.2_Missense_Mutation_p.T692M	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	692	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ACTTGTGGCCGTCCTGAGTGT	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116	114	115		2075	6.1	1	14		115	0,8600		0,0,4300	yes	missense	STON2	NM_033104.2	81	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	probably-damaging	692/906	81743580	1,13005	2203	4300	6503	SO:0001583	missense			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022	85439	85439			30652	protein-coding gene	gene with protein product	stoned B homolog 2 (Drosophila)	608467			NA	11381094, 11454741	Standard	NM_033104	NM_033104	NA	Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000555447.1:c.2075C>T	14.37:g.81743580G>A	ENSP00000450857:p.Thr692Met	NA	Q17R24|Q6NT47|Q96RI7|Q96RU6	37	CCDS58332.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572943	0.45798	2.27E-4	0.0	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.19105	2.17;2.17	6.06	6.06	0.98353	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.45054	0.1323	M	0.65498	2.005	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	T	0.27054	-1.0085	10	0.87932	D	0	-17.0297	14.7345	0.69406	0.0685:0.0:0.9315:0.0	.	692;692	Q8WXE9;G3V2T7	STON2_HUMAN;.	M	692;704;692	ENSP00000450857:T692M;ENSP00000267540:T692M	ENSP00000267540:T692M	T	-	2	0	STON2	80813333	1.000000	0.71417	0.972000	0.41901	0.371000	0.29859	8.029000	0.88807	2.879000	0.98667	0.650000	0.86243	ACG	STON2-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000413314.1		-	ENST00000555447.1	Missense_Mutation	SNP	14 : 81743580 - 81743580 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	714	6
SYT12	91683	broad.mit.edu	37	11	66807334	66807334	+	Missense_Mutation	SNP	G	G	A	rs34985365		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:66807334G>A	ENST00000393946.2	+	7	1443	c.281G>A	c.(280-282)cGc>cAc	p.R94H	SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000525457.1_Missense_Mutation_p.R94H|SYT12_ENST00000527043.1_Missense_Mutation_p.R94H			Q8IV01	SYT12_HUMAN	synaptotagmin XII	94						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCACCCAGCCGCAAAGGCAGT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(65;2862 3307)							NA				0													78	83	81			NA	NA	11		NA											NA				66807334		2200	4295	6495	SO:0001583	missense			AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227	91683	91683		Synaptotagmins	18381	protein-coding gene	gene with protein product		606436			NA	8987811	Standard	NM_177963	NM_177963	NA	Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.281G>A	11.37:g.66807334G>A	ENSP00000377520:p.Arg94His	NA		37	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.840495	0.71488	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043;ENST00000533427	T;T;T	0.14391	2.51;2.51;2.51	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.27053	0.805	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.00787	-1.1566	10	0.52906	T	0.07	.	13.8906	0.63736	0.0:0.0:1.0:0.0	rs34985365	94	Q8IV01	SYT12_HUMAN	H	94	ENSP00000377520:R94H;ENSP00000431400:R94H;ENSP00000435316:R94H	ENSP00000377520:R94H	R	+	2	0	SYT12	66563910	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	9.228000	0.95250	2.655000	0.90218	0.462000	0.41574	CGC	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393129.1		+	ENST00000393946.2	Missense_Mutation	SNP	11 : 66807334 - 66807334 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	776	6
TBL3	10607	broad.mit.edu	37	16	2024605	2024605	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:2024605C>T	ENST00000568546.1	+	5	432	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	102					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CAGCGTTACCCGCCTGTGGAA	0.672		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(118;616 1651 35077 38081 48633)							NA				0													30	33	32			NA	NA	16		NA											NA				2024605		2198	4298	6496	SO:0001583	missense			U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751	10607	10607		WD repeat domain containing	11587	protein-coding gene	gene with protein product		605915			NA	8307582	Standard	NM_006453	NM_006453	NA	Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.304C>T	16.37:g.2024605C>T	ENSP00000454836:p.Arg102Cys	NA	Q59GD6|Q8IVB7|Q96A78	37	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674507	0.29693	.	.	ENSG00000183751	ENST00000332704	.	.	.	4.97	3.0	0.34707	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.237542	0.39146	N	0.001458	T	0.53642	0.1809	M	0.86651	2.83	0.80722	D	1	P	0.42757	0.789	B	0.25614	0.062	T	0.60949	-0.7161	9	0.72032	D	0.01	-15.7473	10.7503	0.46205	0.0:0.8435:0.0:0.1565	.	102	Q12788	TBL3_HUMAN	C	102	.	ENSP00000331815:R102C	R	+	1	0	TBL3	1964606	0.998000	0.40836	0.556000	0.28293	0.678000	0.39670	3.772000	0.55325	0.505000	0.28104	-0.291000	0.09656	CGC	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000250615.3		+	ENST00000568546.1	Missense_Mutation	SNP	16 : 2024605 - 2024605 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	294	53
TLR9	54106	broad.mit.edu	37	3	52257640	52257640	+	Missense_Mutation	SNP	C	C	T	rs147300053		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:52257640C>T	ENST00000494383.1	-	5	1151	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	TLR9_ENST00000360658.2_Missense_Mutation_p.R231H|TLR9_ENST00000597542.1_Missense_Mutation_p.R255H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTTGACGATGCGGTTGTAGGA	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	HIS/ARG	0,4406		0,0,2203	40	30	33		692	-8.8	0.2	3	dbSNP_134	33	3,8597	2.2+/-6.3	0,3,4297	no	missense	TLR9	NM_017442.3	29	0,3,6500	TT,TC,CC	NA	0.0349,0.0,0.0231	benign	231/1033	52257640	3,13003	2203	4300	6503	SO:0001819	synonymous_variant			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732	54106	54106		CD molecules	15633	protein-coding gene	gene with protein product		605474			NA	11022119	Standard		NM_017442	NA	Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000494383.1:c.1152G>A	3.37:g.52257640C>T		NA	B3Y661|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	37		.	.	.	.	.	.	.	.	.	.	C	8.690	0.907217	0.17833	0.0	3.49E-4	ENSG00000239732	ENST00000360658	T	0.58210	0.35	5.38	-8.75	0.00834	.	0.955010	0.08543	N	0.930202	T	0.34337	0.0894	L	0.35288	1.05	0.09310	N	0.999997	B;B	0.11235	0.002;0.004	B;B	0.06405	0.002;0.002	T	0.22347	-1.0219	10	0.25106	T	0.35	.	12.031	0.53397	0.1005:0.6148:0.0:0.2847	.	328;231	B4E0A1;Q9NR96	.;TLR9_HUMAN	H	231	ENSP00000353874:R231H	ENSP00000353874:R231H	R	-	2	0	TLR9	52232680	0.003000	0.15002	0.245000	0.24217	0.163000	0.22366	-0.725000	0.04942	-1.469000	0.01890	-0.982000	0.02568	CGC	TLR9-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000367019.1		-	ENST00000494383.1	Silent	SNP	3 : 52257640 - 52257640 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	187	4
TP53	7157	broad.mit.edu	37	17	7578538	7578538	+	Missense_Mutation	SNP	T	T	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr17:7578538T>A	ENST00000420246.2	-	5	524	c.392A>T	c.(391-393)aAc>aTc	p.N131I	TP53_ENST00000445888.2_Missense_Mutation_p.N131I|TP53_ENST00000413465.2_Missense_Mutation_p.N131I|TP53_ENST00000359597.4_Missense_Mutation_p.N131I|TP53_ENST00000455263.2_Missense_Mutation_p.N131I|TP53_ENST00000269305.4_Missense_Mutation_p.N131I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	131	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (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.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(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)		AAACATCTTGTTGAGGGCAGG	0.557		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	47	Deletion - In frame(21)|Substitution - Missense(12)|Whole gene deletion(8)|Deletion - Frameshift(6)	breast(8)|central_nervous_system(7)|upper_aerodigestive_tract(4)|large_intestine(4)|bone(4)|liver(4)|lung(3)|adrenal_gland(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|stomach(1)|biliary_tract(1)|pancreas(1)											46	46	46			NA	NA	17		NA											NA				7578538		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.392A>T	17.37:g.7578538T>A	ENSP00000391127:p.Asn131Ile	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	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405466	0.83230	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99804	-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83;-6.83	5.48	5.48	0.80851	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	0.99757	0.9902	M	0.87547	2.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.998;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.998;0.992;0.974;0.999;1.0;1.0	D	0.97125	0.9814	10	0.87932	D	0	-30.8858	13.8301	0.63375	0.0:0.0:0.0:1.0	.	92;131;131;38;131;131;131	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	I	131;131;131;131;131;131;120;38;38;131	ENSP00000410739:N131I;ENSP00000352610:N131I;ENSP00000269305:N131I;ENSP00000398846:N131I;ENSP00000391127:N131I;ENSP00000391478:N131I;ENSP00000423862:N38I;ENSP00000424104:N131I	ENSP00000269305:N131I	N	-	2	0	TP53	7519263	1.000000	0.71417	0.998000	0.56505	0.771000	0.43674	7.993000	0.88291	2.206000	0.71126	0.533000	0.62120	AAC	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7578538 - 7578538 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	187	53
TRPM4	54795	broad.mit.edu	37	19	49671336	49671336	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:49671336C>T	ENST00000252826.5	+	4	556	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R144W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	144					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGGCTGGTGCGGGCTGCCCA	0.731		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	TRP/ARG,TRP/ARG	1,4399		0,1,2199	28	33	31		430,430	2	1	19		31	0,8590		0,0,4295	no	missense,missense	TRPM4	NM_001195227.1,NM_017636.3	101,101	0,1,6494	TT,TC,CC	NA	0.0,0.0227,0.0077	probably-damaging,probably-damaging	144/1070,144/1215	49671336	1,12989	2200	4295	6495	SO:0001583	missense			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529	54795	54795		Voltage-gated ion channels / Transient receptor potential cation channels	17993	protein-coding gene	gene with protein product		606936			NA	11535825, 16382100	Standard	NM_017636	NM_017636	NA	Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.430C>T	19.37:g.49671336C>T	ENSP00000252826:p.Arg144Trp	NA	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	37	CCDS33073.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880335	0.72294	2.27E-4	0.0	ENSG00000130529	ENST00000252826;ENST00000427978	T;T	0.03301	3.98;3.98	4.33	1.96	0.26148	.	0.086004	0.46442	D	0.000284	T	0.12050	0.0293	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72625	0.978;0.952	T	0.01537	-1.1330	10	0.87932	D	0	-31.9032	10.4113	0.44294	0.5303:0.4697:0.0:0.0	.	144;144	Q8TD43-3;Q8TD43	.;TRPM4_HUMAN	W	144	ENSP00000252826:R144W;ENSP00000407492:R144W	ENSP00000252826:R144W	R	+	1	2	TRPM4	54363148	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.336000	0.43938	1.142000	0.42291	0.491000	0.48974	CGG	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465543.2		+	ENST00000252826.5	Missense_Mutation	SNP	19 : 49671336 - 49671336 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	474	5
TTC17	55761	broad.mit.edu	37	11	43471655	43471655	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:43471655C>T	ENST00000039989.4	+	20	2824	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	937							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ATAGATTTTGCCACCCCTATA	0.473		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	112	115			NA	NA	11		NA											NA				43471655		2203	4300	6503	SO:0001583	missense			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841	55761	55761		Tetratricopeptide (TTC) repeat domain containing	25596	protein-coding gene	gene with protein product					NA	12477932	Standard	NM_018259	NM_018259	NA	Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.2810C>T	11.37:g.43471655C>T	ENSP00000039989:p.Ala937Val	NA		37	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470025	0.84533	.	.	ENSG00000052841	ENST00000039989	T	0.34667	1.35	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.39145	0.1067	L	0.47716	1.5	0.80722	D	1	P	0.50443	0.935	B	0.43194	0.411	T	0.12116	-1.0560	10	0.42905	T	0.14	-13.769	20.1392	0.98050	0.0:1.0:0.0:0.0	.	937	Q96AE7	TTC17_HUMAN	V	937	ENSP00000039989:A937V	ENSP00000039989:A937V	A	+	2	0	TTC17	43428231	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.438000	0.80431	2.751000	0.94390	0.591000	0.81541	GCC	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000389577.2		+	ENST00000039989.4	Missense_Mutation	SNP	11 : 43471655 - 43471655 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	684	6
UMODL1	89766	broad.mit.edu	37	21	43543258	43543258	+	Missense_Mutation	SNP	A	A	C			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr21:43543258A>C	ENST00000400424.2	+	17	3325	c.2929A>C	c.(2929-2931)Agc>Cgc	p.S977R	UMODL1_ENST00000408910.2_Missense_Mutation_p.S1049R|UMODL1_ENST00000400427.1_Missense_Mutation_p.S1105R|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408989.2_Missense_Mutation_p.S1177R	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1	NA						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCTCATGCAGAGCGTAAGACC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)							NA				0													37	39	38			NA	NA	21		NA											NA				43543258		2103	4211	6314	SO:0001583	missense				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398	89766	89766			12560	protein-coding gene	gene with protein product	olfactorin	613859			NA	16026467	Standard		NM_173568	NA	Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000400424.2:c.2929A>C	21.37:g.43543258A>C	ENSP00000383276:p.Ser977Arg	NA	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	37	CCDS56214.1	.	.	.	.	.	.	.	.	.	.	A	13.74	2.328296	0.41197	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	3.13	3.13	0.36017	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.506608	0.16330	N	0.219167	D	0.84772	0.5546	L	0.52266	1.64	0.38979	D	0.958909	D;D	0.76494	0.999;0.999	D;D	0.73708	0.976;0.981	D	0.83927	0.0304	9	.	.	.	-11.4154	10.9262	0.47191	1.0:0.0:0.0:0.0	.	1177;1049	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	R	1105;977;1177;1049	ENSP00000383279:S1105R;ENSP00000383276:S977R;ENSP00000386126:S1177R;ENSP00000386147:S1049R	.	S	+	1	0	UMODL1	42416327	1.000000	0.71417	0.959000	0.39883	0.192000	0.23643	4.772000	0.62324	1.674000	0.50907	0.260000	0.18958	AGC	UMODL1-004	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000195294.2		+	ENST00000400424.2	Missense_Mutation	SNP	21 : 43543258 - 43543258 C PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	216	36
UNC50	25972	broad.mit.edu	37	2	99226304	99226304	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr2:99226304G>A	ENST00000409975.1	+	1	1263	c.133G>A	c.(133-135)Gga>Aga	p.G45R	UNC50_ENST00000357765.2_Missense_Mutation_p.G28R|UNC50_ENST00000409347.1_Missense_Mutation_p.G45R			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	28					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACACACAGCCGGAGCGAAACG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													168	168	168			NA	NA	2		NA											NA				99226304		2203	4300	6503	SO:0001583	missense				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446	25972	25972			16046	protein-coding gene	gene with protein product					NA	10980252	Standard	NM_014044	NM_014044	NA	Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000409975.1:c.133G>A	2.37:g.99226304G>A	ENSP00000387146:p.Gly45Arg	NA	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	37		.	.	.	.	.	.	.	.	.	.	G	32	5.111883	0.94339	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.62684	0.2448	L	0.40543	1.245	0.80722	D	1	D	0.71674	0.998	P	0.58077	0.832	T	0.55309	-0.8161	9	0.13853	T	0.58	-9.4319	18.0646	0.89387	0.0:0.0:1.0:0.0	.	28	Q53HI1	UNC50_HUMAN	R	28;45;45	.	ENSP00000350409:G28R	G	+	1	0	UNC50	98592736	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.343000	0.79319	2.505000	0.84491	0.591000	0.81541	GGA	UNC50-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000329560.1		+	ENST00000409975.1	Missense_Mutation	SNP	2 : 99226304 - 99226304 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	932	8
UPF1	5976	broad.mit.edu	37	19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:18960909G>A	ENST00000262803.5	+	4	759	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000599848.1_Missense_Mutation_p.A163T|UPF1_ENST00000600310.1_3'UTR	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	lung(1)											89	88	88			NA	NA	19		NA											NA				18960909		2203	4300	6503	SO:0001583	missense			AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007	5976	5976			9962	protein-coding gene	gene with protein product	UP Frameshift 1, smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)	601430	regulator of nonsense transcripts 1	RENT1	NA	8855285, 9064659	Standard	NM_002911	XM_005260015	NA	Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000262803.5:c.487G>A	19.37:g.18960909G>A	ENSP00000262803:p.Ala163Thr	NA	O00239|O43343|Q86Z25|Q92842	37	CCDS12386.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014153	0.93404	.	.	ENSG00000005007	ENST00000262803	D	0.91237	-2.81	4.51	4.51	0.55191	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94142	0.8121	M	0.86805	2.84	0.80722	D	1	P;P	0.41159	0.74;0.695	P;B	0.49301	0.606;0.415	D	0.95400	0.8489	10	0.87932	D	0	-16.0301	16.5553	0.84483	0.0:0.0:1.0:0.0	.	163;163	Q92900;Q92900-2	RENT1_HUMAN;.	T	163	ENSP00000262803:A163T	ENSP00000262803:A163T	A	+	1	0	UPF1	18821909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.374000	0.97172	2.221000	0.72209	0.591000	0.81541	GCA	UPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464683.1		+	ENST00000262803.5	Missense_Mutation	SNP	19 : 18960909 - 18960909 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	545	6
USP2	9099	broad.mit.edu	37	11	119230302	119230302	+	Missense_Mutation	SNP	C	C	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:119230302C>A	ENST00000260187.2	-	4	1188	c.894G>T	c.(892-894)agG>agT	p.R298S	USP2_ENST00000525735.1_Missense_Mutation_p.R89S|USP2_ENST00000455332.2_Missense_Mutation_p.R55S	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	298					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GCATGTAGAGCCTCTGGAGGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													99	84	89			NA	NA	11		NA											NA				119230302		2199	4295	6494	SO:0001583	missense			AF079564	CCDS8422.1, CCDS8423.1, CCDS58189.1	11q23.3	2008-02-05	2005-08-08			ENSG00000036672	9099	9099		Ubiquitin-specific peptidases	12618	protein-coding gene	gene with protein product		604725	ubiquitin specific protease 2		NA	12838346	Standard	NM_171997	NM_004205	NA	Approved	UBP41	uc001pwm.4	O75604		ENST00000260187.2:c.894G>T	11.37:g.119230302C>A	ENSP00000260187:p.Arg298Ser	NA	B0YJB8|Q8IUM2|Q8IW04|Q96MB9|Q9BQ21	37	CCDS8422.1	.	.	.	.	.	.	.	.	.	.	C	12.02	1.811636	0.32053	.	.	ENSG00000036672	ENST00000455332;ENST00000260187;ENST00000392808;ENST00000525735	T;T;T	0.29655	1.56;1.56;1.56	5.28	2.31	0.28768	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.196121	0.52532	D	0.000067	T	0.17109	0.0411	N	0.25201	0.72	0.27590	N	0.949293	B;B;B	0.26483	0.15;0.048;0.0	B;B;B	0.28991	0.097;0.057;0.004	T	0.12760	-1.0535	10	0.34782	T	0.22	-7.6172	3.7498	0.08562	0.1619:0.4776:0.0:0.3605	.	55;298;89	E9PPM2;O75604;O75604-4	.;UBP2_HUMAN;.	S	55;298;45;89	ENSP00000407842:R55S;ENSP00000260187:R298S;ENSP00000436952:R89S	ENSP00000260187:R298S	R	-	3	2	USP2	118735512	0.993000	0.37304	0.995000	0.50966	0.905000	0.53344	1.262000	0.32992	0.339000	0.23719	-0.345000	0.07892	AGG	USP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388361.2		-	ENST00000260187.2	Missense_Mutation	SNP	11 : 119230302 - 119230302 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	235	4
VGLL3	389136	broad.mit.edu	37	3	87017871	87017871	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr3:87017871G>A	ENST00000398399.2	-	3	1169	c.806C>T	c.(805-807)gCg>gTg	p.A269V	VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial-like family member 3	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AATCCTGGCCGCATGCACTGA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	VAL/ALA	0,4276		0,0,2138	69	70	70		806	5.7	0.5	3		70	1,8499		0,1,4249	no	missense	VGLL3	NM_016206.2	64	0,1,6387	AA,AG,GG	NA	0.0118,0.0,0.0078	possibly-damaging	269/327	87017871	1,12775	2138	4250	6388	SO:0001583	missense			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538	389136	389136			24327	protein-coding gene	gene with protein product		609980	vestigial like 3 (Drosophila)		NA	12376544	Standard	NM_016206	NM_016206	NA	Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.806C>T	3.37:g.87017871G>A	ENSP00000381436:p.Ala269Val	NA	D3DU37|Q504T7	37	CCDS43110.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945134	0.73672	0.0	1.18E-4	ENSG00000206538	ENST00000398399;ENST00000383698	T;T	0.52754	0.82;0.65	5.71	5.71	0.89125	.	0.486738	0.20579	N	0.089580	T	0.44953	0.1318	L	0.54323	1.7	0.47949	D	0.99955	P	0.45428	0.858	B	0.35655	0.207	T	0.48917	-0.8992	10	0.45353	T	0.12	-0.046	19.446	0.94847	0.0:0.0:1.0:0.0	.	269	A8MV65	VGLL3_HUMAN	V	269	ENSP00000381436:A269V;ENSP00000373199:A269V	ENSP00000373199:A269V	A	-	2	0	VGLL3	87100561	0.956000	0.32656	0.475000	0.27278	0.820000	0.46376	6.223000	0.72257	2.709000	0.92574	0.561000	0.74099	GCG	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000352805.1		-	ENST00000398399.2	Missense_Mutation	SNP	3 : 87017871 - 87017871 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	214	4
VIPAS39	63894	broad.mit.edu	37	14	77917637	77917637	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:77917637C>T	ENST00000553888.1	-	4	746	c.236G>A	c.(235-237)gGc>gAc	p.G79D	VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	NA											NA						GTGGGTTGAGCCGCTATTACC	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													259	204	222			NA	NA	14		NA											NA				77917637		2203	4300	6503	SO:0001583	missense			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445	63894	63894			20347	protein-coding gene	gene with protein product	VPS33B interacting protein, apical-basolateral polarity regulator	613401	chromosome 14 open reading frame 133	C14orf133	NA	20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067	NM_022067	NA	Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.236G>A	14.37:g.77917637C>T	ENSP00000452181:p.Gly79Asp	NA		37	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757142	0.15846	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.49	3.61	0.41365	.	0.314327	0.39341	N	0.001386	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B	0.30563	0.285	B	0.25614	0.062	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.793	11.3804	0.49754	0.2533:0.6245:0.1221:0.0	.	79	Q9H9C1	VIPAR_HUMAN	D	79;79;79;79;105	ENSP00000339122:G79D;ENSP00000452181:G79D;ENSP00000313098:G79D;ENSP00000452191:G79D;ENSP00000451857:G105D	ENSP00000313098:G79D	G	-	2	0	VIPAR	76987390	0.000000	0.05858	0.098000	0.21074	0.017000	0.09413	0.922000	0.28734	0.635000	0.30488	0.563000	0.77884	GGC	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000414008.1		-	ENST00000553888.1	Missense_Mutation	SNP	14 : 77917637 - 77917637 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	830	7
WDFY3	23001	broad.mit.edu	37	4	85715780	85715780	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr4:85715780G>A	ENST00000295888.4	-	21	3786	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C	WDFY3_ENST00000322366.6_Missense_Mutation_p.R1127C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1127						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTGCTCGGCGCACAACAGTA	0.448		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													131	132	132			NA	NA	4		NA											NA				85715780		2203	4300	6503	SO:0001583	missense			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625	23001	23001		Zinc fingers, FYVE domain containing, WD repeat domain containing	20751	protein-coding gene	gene with protein product					NA	10231032	Standard	NM_014991	NM_014991	NA	Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3379C>T	4.37:g.85715780G>A	ENSP00000295888:p.Arg1127Cys	NA	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133401	0.56828	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.58940	0.3;0.3	5.16	5.16	0.70880	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75013	-0.3467	10	0.46703	T	0.11	.	12.6981	0.57016	0.0:0.0:0.7124:0.2876	.	1127	Q8IZQ1	WDFY3_HUMAN	C	1127	ENSP00000318466:R1127C;ENSP00000295888:R1127C	ENSP00000295888:R1127C	R	-	1	0	WDFY3	85934804	1.000000	0.71417	0.965000	0.40720	0.278000	0.26855	5.903000	0.69877	2.563000	0.86464	0.650000	0.86243	CGC	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252811.2		-	ENST00000295888.4	Missense_Mutation	SNP	4 : 85715780 - 85715780 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	641	6
WDR90	197335	broad.mit.edu	37	16	703653	703653	+	Silent	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr16:703653C>T	ENST00000549091.1	+	12	1454	c.1362C>T	c.(1360-1362)caC>caT	p.H454H	WDR90_ENST00000293879.4_Silent_p.H454H	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	454										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCCCAATGCACGTTGTCTGCT	0.637		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	60	58			NA	NA	16		NA											NA				703653		2069	4192	6261	SO:0001819	synonymous_variant			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996	197335	197335		WD repeat domain containing	26960	protein-coding gene	gene with protein product			chromosome 16 open reading frame 17, chromosome 16 open reading frame 15, chromosome 16 open reading frame 16, chromosome 16 open reading frame 19, chromosome 16 open reading frame 18	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18	NA	11572484, 11157797	Standard	NM_145294	XM_005255160	NA	Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000549091.1:c.1362C>T	16.37:g.703653C>T		NA	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	37																																																																																				WDR90-001	NOVEL	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000109343.3		+	ENST00000549091.1	Silent	SNP	16 : 703653 - 703653 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	355	73
YLPM1	56252	broad.mit.edu	37	14	75230759	75230759	+	Silent	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr14:75230759G>A	ENST00000552421.1	+	1	691	c.567G>A	c.(565-567)ccG>ccA	p.P189P	YLPM1_ENST00000325680.7_Silent_p.P189P|YLPM1_ENST00000238571.3_Silent_p.P189P			P49750	YLPM1_HUMAN	YLP motif containing 1	189	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTGCTCAGCCGTCCCCTTCGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													69	77	74			NA	NA	14		NA											NA				75230759		2073	4196	6269	SO:0001819	synonymous_variant			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596	56252	56252			17798	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 169		chromosome 14 open reading frame 170	C14orf170	NA	7596406	Standard	NM_019589	NM_019589	NA	Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.567G>A	14.37:g.75230759G>A		NA	P49752|Q96I64|Q9P1V7	37																																																																																				YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000404450.1		+	ENST00000552421.1	Silent	SNP	14 : 75230759 - 75230759 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	461	5
ZC3H12A	80149	broad.mit.edu	37	1	37947303	37947303	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr1:37947303A>G	ENST00000373087.6	+	4	801	c.685A>G	c.(685-687)Att>Gtt	p.I229V		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	229					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			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)				CGACAGATTCATTGTGAAGCT	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													281	243	256			NA	NA	1		NA											NA				37947303		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.685A>G	1.37:g.37947303A>G	ENSP00000362179:p.Ile229Val	NA	D3DPT0|Q6I9Z1|Q9H5P1	37	CCDS417.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753618	0.89753	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.56776	0.44	5.8	5.8	0.92144	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	M	0.66939	2.045	0.80722	D	1	P	0.51351	0.944	D	0.64042	0.921	T	0.71258	-0.4646	10	0.54805	T	0.06	-24.1349	16.1549	0.81657	1.0:0.0:0.0:0.0	.	229	Q5D1E8	ZC12A_HUMAN	V	229	ENSP00000362179:I229V	ENSP00000362174:I229V	I	+	1	0	ZC3H12A	37719890	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.281000	0.95811	2.209000	0.71365	0.533000	0.62120	ATT	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000012154.2		+	ENST00000373087.6	Missense_Mutation	SNP	1 : 37947303 - 37947303 G PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	557	108
ZDHHC5	25921	broad.mit.edu	37	11	57466302	57466302	+	Missense_Mutation	SNP	A	A	G			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr11:57466302A>G	ENST00000287169.3	+	11	2756	c.1394A>G	c.(1393-1395)aAt>aGt	p.N465S	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.N412S	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	465						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CAGACACGCAATGGAAGCCTA	0.557		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								A	SER/ASN	0,4402		0,0,2201	96	75	82		1394	5.1	1	11		82	1,8591	1.2+/-3.3	0,1,4295	no	missense	ZDHHC5	NM_015457.2	46	0,1,6496	GG,GA,AA	NA	0.0116,0.0,0.0077	possibly-damaging	465/716	57466302	1,12993	2201	4296	6497	SO:0001583	missense			AB051535	CCDS7965.1	11q13.1	2008-05-02			ENSG00000156599	ENSG00000156599	25921	25921		Zinc fingers, DHHC-type	18472	protein-coding gene	gene with protein product		614586			NA	11214970	Standard	NM_015457	NM_015457	NA	Approved	KIAA1748, ZNF375	uc001nkx.1	Q9C0B5	OTTHUMG00000167198	ENST00000287169.3:c.1394A>G	11.37:g.57466302A>G	ENSP00000287169:p.Asn465Ser	NA	Q6ZMF0|Q8TAK8|Q9H923|Q9UFI7	37	CCDS7965.1	.	.	.	.	.	.	.	.	.	.	A	19.93	3.918245	0.73098	0.0	1.16E-4	ENSG00000156599	ENST00000527985;ENST00000287169;ENST00000529447	T;T;D	0.85013	-0.09;0.89;-1.93	5.09	5.09	0.68999	.	0.269487	0.37219	N	0.002189	D	0.84224	0.5425	L	0.37561	1.115	0.80722	D	1	P	0.42827	0.791	P	0.48873	0.593	D	0.85335	0.1092	10	0.52906	T	0.07	-19.2371	14.709	0.69215	1.0:0.0:0.0:0.0	.	465	Q9C0B5	ZDHC5_HUMAN	S	412;465;299	ENSP00000432202:N412S;ENSP00000287169:N465S;ENSP00000435722:N299S	ENSP00000287169:N465S	N	+	2	0	ZDHHC5	57222878	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	8.502000	0.90505	2.146000	0.66826	0.460000	0.39030	AAT	ZDHHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000393694.1		+	ENST00000287169.3	Missense_Mutation	SNP	11 : 57466302 - 57466302 G PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	323	50
ZNF217	7764	broad.mit.edu	37	20	52198591	52198591	+	Missense_Mutation	SNP	G	G	A			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr20:52198591G>A	ENST00000371471.2	-	2	1200	c.775C>T	c.(775-777)Ccg>Tcg	p.P259S	ZNF217_ENST00000302342.3_Missense_Mutation_p.P259S			O75362	ZN217_HUMAN	zinc finger protein 217	259					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTCGAGGACGGCATTCCTCCT	0.512		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													102	97	99			NA	NA	20		NA											NA				52198591		2203	4300	6503	SO:0001583	missense			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940	7764	7764		Zinc fingers, C2H2-type	13009	protein-coding gene	gene with protein product		602967			NA	9671742	Standard	NM_006526	NM_006526	NA	Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.775C>T	20.37:g.52198591G>A	ENSP00000360526:p.Pro259Ser	NA	E1P5Y6|Q14DB8	37	CCDS13443.1	.	.	.	.	.	.	.	.	.	.	G	1.632	-0.518688	0.04171	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.08634	3.07;3.07	5.46	-0.716	0.11212	.	0.952709	0.08770	N	0.896438	T	0.05686	0.0149	L	0.33485	1.01	0.09310	N	1	B	0.12630	0.006	B	0.15052	0.012	T	0.43734	-0.9373	10	0.33141	T	0.24	-5.7251	2.3642	0.04315	0.1675:0.1085:0.1954:0.5286	.	259	O75362	ZN217_HUMAN	S	259	ENSP00000360526:P259S;ENSP00000304308:P259S	ENSP00000304308:P259S	P	-	1	0	ZNF217	51631998	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.254000	0.08781	0.235000	0.21160	0.591000	0.81541	CCG	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079757.2		-	ENST00000371471.2	Missense_Mutation	SNP	20 : 52198591 - 52198591 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	731	6
ZNF581	51545	broad.mit.edu	37	19	56156512	56156512	+	Missense_Mutation	SNP	C	C	T			TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:56156512C>T	ENST00000587252.1	+	2	848	c.575C>T	c.(574-576)aCg>aTg	p.T192M	ZNF581_ENST00000588537.1_Missense_Mutation_p.T192M|ZNF581_ENST00000270451.5_Missense_Mutation_p.T192M			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CAGAAACACACGCGGTGGAAG	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	40	40			NA	NA	19		NA											NA				56156512		2203	4300	6503	SO:0001583	missense			AK026203	CCDS12932.1	19q13.42	2013-09-20			ENSG00000171425	ENSG00000171425	51545	51545		Zinc fingers, C2H2-type	25017	protein-coding gene	gene with protein product					NA	11042152	Standard	NM_016535	NM_016535	NA	Approved	HSPC189, FLJ22550	uc002qlq.3	Q9P0T4	OTTHUMG00000180869	ENST00000587252.1:c.575C>T	19.37:g.56156512C>T	ENSP00000466047:p.Thr192Met	NA	B2RDM6	37	CCDS12932.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.800114	0.31869	.	.	ENSG00000171425	ENST00000270451	T	0.09538	2.97	3.5	0.0648	0.14354	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05547	0.0146	N	0.00760	-1.21	0.24781	N	0.992819	D	0.67145	0.996	P	0.53649	0.731	T	0.36432	-0.9748	9	0.87932	D	0	.	6.9073	0.24315	0.0:0.4032:0.0:0.5968	.	192	Q9P0T4	ZN581_HUMAN	M	192	ENSP00000270451:T192M	ENSP00000270451:T192M	T	+	2	0	ZNF581	60848324	0.000000	0.05858	0.014000	0.15608	0.453000	0.32348	-0.054000	0.11826	-0.004000	0.14419	0.407000	0.27541	ACG	ZNF581-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000453430.1		+	ENST00000587252.1	Missense_Mutation	SNP	19 : 56156512 - 56156512 T PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	445	5
ZNF677	342926	broad.mit.edu	37	19	53740485	53740485	+	Missense_Mutation	SNP	G	G	A	rs140137479		TCGA-HV-A7OL-01A-11D-A33T-08	TCGA-HV-A7OL-10A-01D-A33W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	0760de9f-10f1-43db-a96a-7c82c37d4cf3	306b21fa-27e2-44ab-8b5b-583be65a9182	g.chr19:53740485G>A	ENST00000598513.1	-	5	1645	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	ZNF677_ENST00000333952.4_Missense_Mutation_p.R499C	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AGATTTGAACGTTCAGTAAAG	0.383		NA											G	1	5e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0013	NA	NA	4e-04	0.95	EXOME	NA	NA	6e-04	SNP								NA				0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	87	85	86		1495	1.2	0.1	19	dbSNP_134	86	1,8597	1.2+/-3.3	0,1,4298	no	missense	ZNF677	NM_182609.2	180	0,2,6500	AA,AG,GG	NA	0.0116,0.0227,0.0154	possibly-damaging	499/585	53740485	2,13002	2203	4299	6502	SO:0001583	missense			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928	342926	342926		Zinc fingers, C2H2-type, -	28730	protein-coding gene	gene with protein product	hypothetical protein MGC48625				NA	12477932	Standard	NM_182609	NM_182609	NA	Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1495C>T	19.37:g.53740485G>A	ENSP00000469391:p.Arg499Cys	NA		37	CCDS12861.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.966	0.747973	0.15710	2.27E-4	1.16E-4	ENSG00000197928	ENST00000333952	T	0.36157	1.27	2.21	1.17	0.20885	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.501906	0.15110	N	0.279990	T	0.26774	0.0655	L	0.49513	1.565	0.09310	N	1	B	0.27192	0.171	B	0.15052	0.012	T	0.13548	-1.0505	10	0.36615	T	0.2	.	6.8941	0.24247	0.1513:0.0:0.8487:0.0	.	499	Q86XU0	ZN677_HUMAN	C	499	ENSP00000334394:R499C	ENSP00000334394:R499C	R	-	1	0	ZNF677	58432297	0.000000	0.05858	0.082000	0.20525	0.912000	0.54170	-2.309000	0.01130	0.506000	0.28125	0.655000	0.94253	CGT	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000464189.1		-	ENST00000598513.1	Missense_Mutation	SNP	19 : 53740485 - 53740485 A PAAD-TCGA-HV-A7OL-Tumor-SM-5437C	438	5
