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
ABCB5	340273	broad.mit.edu	37	7	20768012	20768012	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:20768012C>T	ENST00000404938.2	+	23	3453	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	ABCB5_ENST00000258738.6_Missense_Mutation_p.A489V	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	489					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.A489V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTGCCTATGCGGCAGGGTTT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	large_intestine(1)						C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	129	129	129		2801,1466	3.9	0.9	7		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABCB5	NM_001163941.1,NM_178559.5	64,64	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	probably-damaging,probably-damaging	934/1258,489/813	20768012	1,13005	2203	4300	6503	SO:0001583	missense			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846	340273	340273		ATP binding cassette transporters / subfamily B	46	protein-coding gene	gene with protein product	P-glycoprotein ABCB5, ATP-binding cassette protein	611785			NA	8894702, 12960149	Standard	NM_178559	NM_001163942	NA	Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2801C>T	7.37:g.20768012C>T	ENSP00000384881:p.Ala934Val	NA	A4D131|B7WPL1|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306909	0.81247	0.0	1.16E-4	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90133	-2.62;-2.62	3.91	3.91	0.45181	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.52532	D	0.000062	D	0.95689	0.8598	M	0.91300	3.195	0.51012	D	0.999903	D;D;D	0.89917	0.999;1.0;0.995	D;P;P	0.67103	0.949;0.904;0.899	D	0.96323	0.9238	10	0.87932	D	0	.	14.2264	0.65863	0.0:1.0:0.0:0.0	.	934;112;489	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	V	934;489	ENSP00000384881:A934V;ENSP00000258738:A489V	ENSP00000258738:A489V	A	+	2	0	ABCB5	20734537	1.000000	0.71417	0.943000	0.38184	0.979000	0.70002	5.943000	0.70211	2.472000	0.83506	0.655000	0.94253	GCG	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000326736.2		+	ENST00000404938.2	Missense_Mutation	SNP	7 : 20768012 - 20768012 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	627	56
ALDH4A1	8659	broad.mit.edu	37	1	19212958	19212958	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:19212958C>A	ENST00000375341.3	-	4	554	c.297G>T	c.(295-297)aaG>aaT	p.K99N	ALDH4A1_ENST00000538839.1_Splice_Site_p.K99N|ALDH4A1_ENST00000538309.1_Splice_Site_p.K39N|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Splice_Site_p.K99N	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	99					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	GCTCACTCACCTTGTCTGCAT	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													172	128	143			NA	NA	1		NA											NA				19212958		2203	4300	6503	SO:0001630	splice_region_variant			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	8659	8659	1.5.1.12	Aldehyde dehydrogenases	406	protein-coding gene	gene with protein product		606811		ALDH4	NA	8621661	Standard		NM_003748	NA	Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.297+1G>T	1.37:g.19212958C>A		NA	A8K1Q7|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	37	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006620	0.93287	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375334	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.046947	0.85682	D	0.000000	D	0.87676	0.6237	M	0.83852	2.665	0.80722	D	1	D	0.59357	0.985	P	0.61477	0.889	D	0.88178	0.2869	9	.	.	.	-28.641	16.5735	0.84631	0.0:1.0:0.0:0.0	.	99	P30038	AL4A1_HUMAN	N	99;99;99;39;39	ENSP00000290597:K99N;ENSP00000364490:K99N;ENSP00000446071:K99N;ENSP00000442988:K39N	.	K	-	3	2	ALDH4A1	19085545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.798000	0.75155	2.686000	0.91538	0.655000	0.94253	AAG	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000006954.1	Missense_Mutation	-	ENST00000375341.3	Splice_Site	SNP	1 : 19212958 - 19212958 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	260	27
ANXA11	311	broad.mit.edu	37	10	81930573	81930573	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:81930573C>A	ENST00000438331.1	-	5	636	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	ANXA11_ENST00000535999.1_Missense_Mutation_p.D52Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D19Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D52Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D52Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	52					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GAGAGATAGTCCTGGTTGAAC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	69	74			NA	NA	10		NA											NA				81930573		2203	4300	6503	SO:0001583	missense			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359	311	311		Annexins	535	protein-coding gene	gene with protein product		602572		ANX11	NA	7508441, 9503022	Standard	NM_145869	NM_001157	NA	Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.154G>T	10.37:g.81930573C>A	ENSP00000398610:p.Asp52Tyr	NA		37	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.29|12.29	1.893491|1.893491	0.33442|0.33442	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799|ENST00000424188	T;T;T;T;T;T;T|.	0.02140|.	4.5;4.5;4.5;4.5;4.5;4.5;4.43|.	4.69|4.69	3.77|3.77	0.43336|0.43336	.|.	1.397770|.	0.04356|.	N|.	0.356611|.	T|T	0.38612|0.38612	0.1047|0.1047	L|L	0.36672|0.36672	1.1|1.1	0.27665|0.27665	N|N	0.946935|0.946935	D;P;P|.	0.58970|.	0.984;0.826;0.826|.	P;B;B|.	0.54372|.	0.75;0.367;0.367|.	T|T	0.31971|0.31971	-0.9924|-0.9924	10|6	0.52906|0.87932	T|D	0.07|0	.|.	7.2398|7.2398	0.26090|0.26090	0.0:0.7252:0.1762:0.0986|0.0:0.7252:0.1762:0.0986	.|.	152;52;52|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	Y|S	52;52;52;52;52;52;52;19;52;52|7	ENSP00000361305:D52Y;ENSP00000404412:D52Y;ENSP00000398610:D52Y;ENSP00000353827:D52Y;ENSP00000265447:D52Y;ENSP00000441748:D52Y;ENSP00000441400:D19Y|.	ENSP00000265447:D52Y|ENSP00000410826:R7S	D|R	-|-	1|3	0|2	ANXA11|ANXA11	81920553|81920553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	1.595000|1.595000	0.36708|0.36708	2.326000|2.326000	0.78906|0.78906	0.443000|0.443000	0.29094|0.29094	GAC|AGG	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000049044.1		-	ENST00000438331.1	Missense_Mutation	SNP	10 : 81930573 - 81930573 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	411	22
ARX	170302	broad.mit.edu	37	X	25033684	25033684	+	Silent	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:25033684G>A	ENST00000379044.4	-	1	381	c.171C>T	c.(169-171)cgC>cgT	p.R57R		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	57						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CCGGGTCGGCGCGGCTGGTCA	0.627		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													25	23	24			NA	NA	X		NA											NA				25033684		2202	4300	6502	SO:0001819	synonymous_variant			AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848	170302	170302		Homeoboxes / PRD class	18060	protein-coding gene	gene with protein product	cancer/testis antigen 121	300382	mental retardation, X-linked 54, mental retardation, X-linked 43, mental retardation, X-linked 36, mental retardation, X-linked 29, mental retardation, X-linked 32, mental retardation, X-linked 33, mental retardation, X-linked 38, mental retardation, X-linked 87, mental retardation, X-linked 76	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87	NA	11889467, 15850492, 17480217	Standard		NM_139058	NA	Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.171C>T	X.37:g.25033684G>A		NA		37	CCDS14215.1																																																																																			ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000056109.1		-	ENST00000379044.4	Silent	SNP	X : 25033684 - 25033684 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	107	15
BEX2	84707	broad.mit.edu	37	X	102564742	102564742	+	Missense_Mutation	SNP	G	G	A	rs149711551	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:102564742G>A	ENST00000372677.3	-	3	430	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	BEX2_ENST00000536889.1_Missense_Mutation_p.R87W|BEX2_ENST00000372674.1_Missense_Mutation_p.R55W	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	55					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						ACGCGGAACCGCCTACGGTTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													133	119	124			NA	NA	X		NA											NA				102564742		2203	4300	6503	SO:0001583	missense			BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134	84707	84707			30933	protein-coding gene	gene with protein product		300691			NA	16221301	Standard	NM_032621	NM_001168399	NA	Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.163C>T	X.37:g.102564742G>A	ENSP00000361762:p.Arg55Trp	NA	B2R574|D3DXA2|Q5JVV9	37	CCDS14505.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672757	0.47781	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674;ENST00000449185	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	4.01	-1.23	0.09465	.	0.689247	0.12748	N	0.442385	T	0.26810	0.0656	M	0.81497	2.545	0.09310	N	1	D;D	0.76494	0.999;0.999	P;D	0.63488	0.828;0.915	T	0.18713	-1.0328	10	0.87932	D	0	.	0.4238	0.00460	0.2149:0.1628:0.2858:0.3364	.	55;87	Q9BXY8;F5H7H5	BEX2_HUMAN;.	W	55;87;55;55	ENSP00000361762:R55W;ENSP00000442521:R87W;ENSP00000361759:R55W;ENSP00000394915:R55W	ENSP00000361759:R55W	R	-	1	2	BEX2	102451398	0.766000	0.28496	0.031000	0.17742	0.715000	0.41141	0.716000	0.25836	-0.425000	0.07371	0.600000	0.82982	CGG	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057702.1		-	ENST00000372677.3	Missense_Mutation	SNP	X : 102564742 - 102564742 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	926	43
C3	718	broad.mit.edu	37	19	6710823	6710823	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:6710823G>A	ENST00000245907.6	-	13	1605	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	505					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)		CGCACCTGGCGTCCCGCCTTC	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													44	46	45			NA	NA	19		NA											NA				6710823		2203	4300	6503	SO:0001583	missense			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.1513C>T	19.37:g.6710823G>A	ENSP00000245907:p.Arg505Cys	NA	A7E236	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976535	0.53720	.	.	ENSG00000125730	ENST00000245907	T	0.65178	-0.14	5.31	3.14	0.36123	Alpha-2-macroglobulin, N-terminal 2 (1);	0.050520	0.85682	N	0.000000	T	0.78477	0.4289	M	0.92026	3.265	0.19300	N	0.999976	D	0.89917	1.0	D	0.97110	1.0	T	0.68085	-0.5502	10	0.59425	D	0.04	.	3.8203	0.08833	0.082:0.1398:0.5074:0.2707	.	505	P01024	CO3_HUMAN	C	505	ENSP00000245907:R505C	ENSP00000245907:R505C	R	-	1	0	C3	6661823	0.662000	0.27439	0.008000	0.14137	0.008000	0.06430	1.347000	0.33975	0.608000	0.30000	0.655000	0.94253	CGC	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Missense_Mutation	SNP	19 : 6710823 - 6710823 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	357	13
C3	718	broad.mit.edu	37	19	6718398	6718398	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:6718398G>C	ENST00000245907.6	-	3	385	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	98					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)		CCCCTTTTCTGACTTGAACTC	0.617		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													127	111	116			NA	NA	19		NA											NA				6718398		2203	4300	6503	SO:0001587	stop_gained			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.293C>G	19.37:g.6718398G>C	ENSP00000245907:p.Ser98*	NA	A7E236	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921397	0.52653	.	.	ENSG00000125730	ENST00000245907	.	.	.	4.91	-2.07	0.07276	.	0.977062	0.08245	U	0.975475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	5.0519	0.14513	0.1702:0.0:0.4561:0.3737	.	.	.	.	X	98	.	ENSP00000245907:S98X	S	-	2	0	C3	6669398	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.382000	0.20635	0.117000	0.18138	-0.396000	0.06452	TCA	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000317636.2		-	ENST00000245907.6	Nonsense_Mutation	SNP	19 : 6718398 - 6718398 C PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	563	26
CD44	960	broad.mit.edu	37	11	35227738	35227738	+	Silent	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:35227738C>T	ENST00000352818.4	+	6	667				CD44_ENST00000437706.2_Silent_p.F454F|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Silent_p.F411F|CD44_ENST00000526669.2_Intron|CD44_ENST00000428726.2_Silent_p.F454F|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000433354.2_Silent_p.F455F|CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Silent_p.F411F			P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	NA					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CTGATTTCTTCAACCCAATCT	0.468		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													222	182	196			NA	NA	11		NA											NA				35227738		2202	4298	6500	SO:0001627	intron_variant			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508	960	960		CD molecules, Blood group antigens, Proteoglycans / Cell surface : Other	1681	protein-coding gene	gene with protein product	hematopoietic cell E- and L-selectin ligand, chondroitin sulfate proteoglycan 8	107269	CD44 antigen (homing function and Indian blood group system)	MIC4, MDU2, MDU3	NA	2454887	Standard	NM_000610	NM_001202555	NA	Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000352818.4:c.668-13125C>T	11.37:g.35227738C>T		NA	A5YRN9|D3DR12|D3DR13|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	37	CCDS55755.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427132	0.01117	.	.	ENSG00000026508	ENST00000526553	.	.	.	4.76	-4.84	0.03151	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.0397	6.5665	0.22515	0.0:0.3178:0.3143:0.3678	.	.	.	.	X	107	.	.	Q	+	1	0	CD44	35184314	0.015000	0.18098	0.007000	0.13788	0.000000	0.00434	-1.469000	0.02348	-1.229000	0.02564	-0.797000	0.03246	CAA	CD44-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388932.1		+	ENST00000352818.4	Intron	SNP	11 : 35227738 - 35227738 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	689	52
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:21971003C>T	ENST00000479692.2	-	2	216	c.202G>A	c.(202-204)Gag>Aag	p.E68K	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Silent_p.*133*|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000361570.3_Silent_p.*174*|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E119K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000579755.1_Silent_p.*133*|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119K			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).		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.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(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)		CCCAGCTCCTCAGCCAGGTCC	0.726		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				1369	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(4)|Substitution - Missense(2)|Deletion - Frameshift(1)|Complex - frameshift(1)|Nonstop extension(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)											24	26	25			NA	NA	9		NA											NA				21971003		2202	4298	6500	SO:0001583	missense			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.202G>A	9.37:g.21971003C>T	ENSP00000466887:p.Glu68Lys	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37		.	.	.	.	.	.	.	.	.	.	C	9.497	1.102324	0.20632	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.64085	-0.08;-0.08	5.93	2.91	0.33838	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.69504	0.3118	.	.	.	0.21220	N	0.999751	D	0.71674	0.998	D	0.74023	0.982	T	0.56498	-0.7969	8	0.20519	T	0.43	-4.2732	8.4897	0.33093	0.0:0.4925:0.4233:0.0842	.	119	P42771	CD2A1_HUMAN	K	119	ENSP00000307101:E119K;ENSP00000394932:E119K	ENSP00000307101:E119K	E	-	1	0	CDKN2A	21961003	0.002000	0.14202	0.998000	0.56505	0.865000	0.49528	0.628000	0.24522	0.816000	0.34421	0.655000	0.94253	GAG	CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	Missense_Mutation	SNP	9 : 21971003 - 21971003 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	242	25
CEP70	80321	broad.mit.edu	37	3	138289266	138289266	+	Missense_Mutation	SNP	T	T	C	rs143423470		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:138289266T>C	ENST00000264982.3	-	6	625	c.359A>G	c.(358-360)gAa>gGa	p.E120G	CEP70_ENST00000484888.1_Missense_Mutation_p.E120G|CEP70_ENST00000464035.1_Missense_Mutation_p.E120G|CEP70_ENST00000542237.1_Missense_Mutation_p.E100G|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000481834.1_Missense_Mutation_p.E120G	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	120					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTCACACTTTCCATAATTTG	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								T	GLY/GLU	0,4406		0,0,2203	154	144	147		359	3.8	1	3	dbSNP_134	147	1,8599		0,1,4299	no	missense	CEP70	NM_024491.2	98	0,1,6502	CC,CT,TT	NA	0.0116,0.0,0.0077	benign	120/598	138289266	1,13005	2203	4300	6503	SO:0001583	missense			AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107	80321	80321			29972	protein-coding gene	gene with protein product		614310			NA	14654843	Standard	NM_024491	XM_005247802	NA	Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.359A>G	3.37:g.138289266T>C	ENSP00000264982:p.Glu120Gly	NA	D3DNE9|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	37	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563176	0.27915	0.0	1.16E-4	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035	T;T;T;T;T;T;T;T	0.55052	1.18;1.19;1.18;1.19;1.17;0.6;0.59;0.54	4.98	3.83	0.44106	.	0.414678	0.25897	N	0.027597	T	0.42086	0.1187	L	0.47716	1.5	0.27515	N	0.95157	P;P;P	0.42692	0.787;0.787;0.787	B;B;B	0.39379	0.23;0.298;0.23	T	0.33979	-0.9847	10	0.41790	T	0.15	-4.5495	7.2698	0.26250	0.0:0.0985:0.0:0.9015	.	100;120;120	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	G	120;100;120;102;120;99;100;120	ENSP00000264982:E120G;ENSP00000444128:E100G;ENSP00000419231:E120G;ENSP00000419833:E102G;ENSP00000417465:E120G;ENSP00000418131:E99G;ENSP00000417819:E100G;ENSP00000419743:E120G	ENSP00000264982:E120G	E	-	2	0	CEP70	139771956	1.000000	0.71417	0.999000	0.59377	0.202000	0.24057	4.295000	0.59049	0.932000	0.37266	-0.256000	0.11100	GAA	CEP70-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000358001.1		-	ENST00000264982.3	Missense_Mutation	SNP	3 : 138289266 - 138289266 C PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	685	114
CKAP5	9793	broad.mit.edu	37	11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	p.R1453C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGTCCCTTGCGTAACATGTTG	0.483		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(4;85 273 2202 4844 13323)							NA				1	Substitution - Missense(1)	kidney(1)											239	197	211			NA	NA	11		NA											NA				46782199		2201	4299	6500	SO:0001583	missense				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216	9793	9793			28959	protein-coding gene	gene with protein product		611142			NA	7788527, 8536682	Standard	NM_014756	NM_014756	NA	Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4357C>T	11.37:g.46782199G>A	ENSP00000432768:p.Arg1453Cys	NA	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	37	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.036557|4.036557	0.75617|0.75617	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.51071|.	0.72;0.74;0.74;0.74|.	6.03|6.03	5.12|5.12	0.69794|0.69794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.89917|.	1.0;0.004;0.002|.	D;B;B|.	0.72625|.	0.978;0.001;0.0|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.59425|.	D|.	0.04|.	-10.0088|-10.0088	15.5956|15.5956	0.76578|0.76578	0.0658:0.0:0.9342:0.0|0.0658:0.0:0.9342:0.0	.|.	1453;1453;1453|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	C|M	1453;1453;1453;1453;176|1	ENSP00000432768:R1453C;ENSP00000395302:R1453C;ENSP00000310227:R1453C;ENSP00000346566:R1453C|.	ENSP00000310227:R1453C|.	R|T	-|-	1|2	0|0	CKAP5|CKAP5	46738775|46738775	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.997000|0.997000	0.91878|0.91878	5.506000|5.506000	0.66993|0.66993	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	CGC|ACG	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000390679.1		-	ENST00000529230.1	Missense_Mutation	SNP	11 : 46782199 - 46782199 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	385	40
CLIP4	79745	broad.mit.edu	37	2	29404502	29404502	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:29404502G>A	ENST00000320081.5	+	16	2116	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M	CLIP4_ENST00000404424.1_Missense_Mutation_p.V621M|CLIP4_ENST00000401617.2_Missense_Mutation_p.V514M|CLIP4_ENST00000481628.1_3'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	621										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAGGGAGCGTGAAGCTGCA	0.542		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													91	82	85			NA	NA	2		NA											NA				29404502		2203	4300	6503	SO:0001583	missense			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295	79745	79745		Ankyrin repeat domain containing	26108	protein-coding gene	gene with protein product			restin-like 2	RSNL2	NA		Standard	NM_024692	XM_005264562	NA	Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1861G>A	2.37:g.29404502G>A	ENSP00000327009:p.Val621Met	NA	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	37	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664449	0.88251	.	.	ENSG00000115295	ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T	0.77358	-1.09;-0.82;-0.82	5.6	5.6	0.85130	Cytoskeleton-associated protein, Gly-rich domain (2);	0.206120	0.41097	D	0.000956	T	0.80497	0.4634	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.57846	0.828	T	0.80538	-0.1338	10	0.46703	T	0.11	.	19.6109	0.95606	0.0:0.0:1.0:0.0	.	621	Q8N3C7	CLIP4_HUMAN	M	514;621;623;621;639;581	ENSP00000385148:V514M;ENSP00000385594:V621M;ENSP00000327009:V621M	ENSP00000327009:V621M	V	+	1	0	CLIP4	29258006	1.000000	0.71417	0.904000	0.35570	0.887000	0.51463	7.111000	0.77077	2.653000	0.90120	0.491000	0.48974	GTG	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000215123.2		+	ENST00000320081.5	Missense_Mutation	SNP	2 : 29404502 - 29404502 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	388	11
CNGA4	1262	broad.mit.edu	37	11	6262838	6262838	+	Silent	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:6262838G>A	ENST00000533426.1	+	5	553	c.402G>A	c.(400-402)caG>caA	p.Q134Q	CNGA4_ENST00000379936.2_Silent_p.Q365Q			Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	365					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAGCTGCAGCCCCAGACCT	0.567		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													149	136	140			NA	NA	11		NA											NA				6262838		2201	4296	6497	SO:0001819	synonymous_variant			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259	1262	1262		Voltage-gated ion channels / Cyclic nucleotide-regulated channels	2152	protein-coding gene	gene with protein product		609472	cyclic nucleotide gated channel beta 2	CNCA2, CNGB2	NA	11764791, 16382102	Standard	NM_001037329	NM_001037329	NA	Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000533426.1:c.402G>A	11.37:g.6262838G>A		NA		37																																																																																				CNGA4-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000383763.1		+	ENST00000533426.1	Silent	SNP	11 : 6262838 - 6262838 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	1011	59
COL9A1	1297	broad.mit.edu	37	6	70935662	70935662	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:70935662C>T	ENST00000357250.6	-	37	2712	c.2554G>A	c.(2554-2556)Ggt>Agt	p.G852S	COL9A1_ENST00000370499.4_Missense_Mutation_p.G609S|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.G609S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	852	Triple-helical region (COL1).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGCAAACCGTTGGGACCT	0.428		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													79	74	76			NA	NA	6		NA											NA				70935662		2203	4300	6503	SO:0001583	missense				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280	1297	1297		Proteoglycans / Extracellular Matrix : Collagen proteoglycans, Collagens	2217	protein-coding gene	gene with protein product		120210			NA	1429648	Standard		NM_001851	NA	Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2554G>A	6.37:g.70935662C>T	ENSP00000349790:p.Gly852Ser	NA	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304275	0.81136	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99329	-5.75;-5.75;-5.75	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97485	1.0050	10	0.87932	D	0	.	19.2294	0.93831	0.0:1.0:0.0:0.0	.	852;609;401	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	S	852;609;609	ENSP00000349790:G852S;ENSP00000315252:G609S;ENSP00000359530:G609S	ENSP00000315252:G609S	G	-	1	0	COL9A1	70992383	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.313000	0.78978	2.557000	0.86248	0.591000	0.81541	GGT	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041131.2		-	ENST00000357250.6	Missense_Mutation	SNP	6 : 70935662 - 70935662 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	450	19
CTR9	9646	broad.mit.edu	37	11	10785352	10785352	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:10785352A>C	ENST00000361367.2	+	9	1546	c.1120A>C	c.(1120-1122)Aat>Cat	p.N374H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	374					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCCTAATAATTACGAAAC	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													78	83	81			NA	NA	11		NA											NA				10785352		2200	4293	6493	SO:0001583	missense			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730	9646	9646		Tetratricopeptide (TTC) repeat domain containing	16850	protein-coding gene	gene with protein product		609366	SH2 domain binding protein 1 (tetratricopeptide repeat containing), Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	SH2BP1	NA	8590280, 8636124	Standard	NM_014633	NM_014633	NA	Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1120A>C	11.37:g.10785352A>C	ENSP00000355013:p.Asn374His	NA	D3DQV8|Q15015	37	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294603	0.81025	.	.	ENSG00000198730	ENST00000361367	T	0.52983	0.64	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.74833	-0.3530	10	0.33940	T	0.23	-32.6144	16.1172	0.81314	1.0:0.0:0.0:0.0	.	374	Q6PD62	CTR9_HUMAN	H	374	ENSP00000355013:N374H	ENSP00000355013:N374H	N	+	1	0	CTR9	10741928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.156000	0.94705	2.266000	0.75297	0.533000	0.62120	AAT	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000386215.1		+	ENST00000361367.2	Missense_Mutation	SNP	11 : 10785352 - 10785352 C PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	562	30
DPYS	1807	broad.mit.edu	37	8	105456665	105456665	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:105456665C>T	ENST00000351513.2	-	4	736	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	202					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTTTGCTCCCTAAAAAGAC	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	46	46			NA	NA	8		NA											NA				105456665		2203	4300	6503	SO:0001630	splice_region_variant			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647	1807	1807			3013	protein-coding gene	gene with protein product		613326			NA	8973361	Standard	NM_001385	NM_001385	NA	Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.604-1G>A	8.37:g.105456665C>T		NA		37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578794	0.65878	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.89485	-2.52;-2.15	5.67	5.67	0.87782	Amidohydrolase 1 (1);	0.171294	0.49916	D	0.000126	D	0.84701	0.5530	N	0.16130	0.375	0.58432	D	0.999998	P	0.44816	0.844	P	0.51453	0.67	T	0.81309	-0.0991	10	0.13108	T	0.6	-10.9332	14.9731	0.71249	0.0:0.9298:0.0:0.0702	.	202	Q14117	DPYS_HUMAN	R	202;149	ENSP00000276651:G202R;ENSP00000430246:G149R	ENSP00000276651:G202R	G	-	1	0	DPYS	105525841	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.482000	0.60257	2.666000	0.90696	0.655000	0.94253	GGA	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000380814.1	Missense_Mutation	-	ENST00000351513.2	Splice_Site	SNP	8 : 105456665 - 105456665 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	241	15
EMC8	10328	broad.mit.edu	37	16	85832764	85832764	+	Silent	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:85832764G>A	ENST00000253457.3	-	1	382	c.138C>T	c.(136-138)ggC>ggT	p.G46G	EMC8_ENST00000435200.2_Silent_p.G46G	NM_006067.4	NP_006058.1			ER membrane protein complex subunit 8	NA											NA						GGGCGCCGGGGCCGCCCAGGG	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													15	18	17			NA	NA	16		NA											NA				85832764		2195	4294	6489	SO:0001819	synonymous_variant			AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148	10328	10328			7864	protein-coding gene	gene with protein product	family with sequence similarity 158, member B	604886	chromosome 16 open reading frame 4, neighbor of COX4, chromosome 16 open reading frame 2, COX4 neighbor	C16orf4, NOC4, C16orf2, COX4NB	NA	10337626, 22119785	Standard	NM_006067	NM_006067	NA	Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.138C>T	16.37:g.85832764G>A		NA		37	CCDS10954.1																																																																																			EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000269099.1		-	ENST00000253457.3	Silent	SNP	16 : 85832764 - 85832764 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	93	6
GGTLC1	92086	broad.mit.edu	37	20	23966551	23966551	+	Missense_Mutation	SNP	C	C	T	rs143742821	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:23966551C>T	ENST00000335694.4	-	4	569	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	GGTLC1_ENST00000278765.4_Missense_Mutation_p.R122Q|GGTLC1_ENST00000286890.4_Missense_Mutation_p.R122Q	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	122							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CACCACCATCCGGACCTGGCC	0.662		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG,GLN/ARG	18,3004		0,18,1493	86	96	93		365,365	0.8	0.2	20	dbSNP_134	93	0,5418		0,0,2709	no	missense,missense	GGTLC1	NM_178311.2,NM_178312.2	43,43	0,18,4202	TT,TC,CC	NA	0.0,0.5956,0.2133	possibly-damaging,possibly-damaging	122/226,122/226	23966551	18,8422	1511	2709	4220	SO:0001583	missense			AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435	92086	92086		Gamma-glutamyltransferases	16437	protein-coding gene	gene with protein product		612338	gamma-glutamyltransferase-like activity 4, gamma-glutamyltransferase-like activity 3	GGTLA4, GGTLA3	NA	10843999, 18357469	Standard	NM_178311.2	NM_178311	NA	Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.365G>A	20.37:g.23966551C>T	ENSP00000337587:p.Arg122Gln	NA	D3DW43|Q08246	37	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	12.08	1.830751	0.32329	0.005956	0.0	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.08370	3.1;3.1;3.1	0.844	0.844	0.18943	.	0.384153	0.26627	N	0.023330	T	0.04815	0.0130	M	0.62016	1.91	0.27078	N	0.96317	B	0.31581	0.329	B	0.25291	0.059	T	0.22347	-1.0219	10	0.38643	T	0.18	-48.6079	3.7845	0.08694	0.0:0.6622:0.0:0.3378	.	122	Q9BX51	GGTL1_HUMAN	Q	122	ENSP00000286890:R122Q;ENSP00000278765:R122Q;ENSP00000337587:R122Q	ENSP00000278765:R122Q	R	-	2	0	GGTLC1	23914551	1.000000	0.71417	0.178000	0.23040	0.195000	0.23768	1.410000	0.34691	0.088000	0.17205	0.089000	0.15464	CGG	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078366.2		-	ENST00000335694.4	Missense_Mutation	SNP	20 : 23966551 - 23966551 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	1062	65
HECTD4	283450	broad.mit.edu	37	12	112681218	112681218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:112681218G>A	ENST00000550722.1	-	32	4854	c.4459C>T	c.(4459-4461)Cga>Tga	p.R1487*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R1461*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.R1211*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4	NA											NA						CCCCCGACTCGTACGGCAGCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													39	41	40			NA	NA	12		NA											NA				112681218		2128	4248	6376	SO:0001587	stop_gained			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064	283450	283450			26611	protein-coding gene	gene with protein product			chromosome 12 open reading frame 51	C12orf51	NA	21270382	Standard	NM_173813	NM_001109662	NA	Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000550722.1:c.4459C>T	12.37:g.112681218G>A	ENSP00000449784:p.Arg1487*	NA		37		.	.	.	.	.	.	.	.	.	.	G	49	15.254624	0.99827	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.85	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4987	0.84252	0.0:0.0:0.868:0.1319	.	.	.	.	X	1461;1211;1487	.	ENSP00000366783:R1461X	R	-	1	2	C12orf51	111165601	1.000000	0.71417	0.976000	0.42696	0.039000	0.13416	4.200000	0.58433	1.462000	0.47948	-0.152000	0.13540	CGA	HECTD4-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000405222.1		-	ENST00000550722.1	Nonsense_Mutation	SNP	12 : 112681218 - 112681218 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	120	5
INSL4	3641	broad.mit.edu	37	9	5233847	5233847	+	Silent	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:5233847C>T	ENST00000239316.4	+	2	495	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	130					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TAATTTGTGACGATGGAACTT	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	70	72			NA	NA	9		NA											NA				5233847		2203	4300	6503	SO:0001819	synonymous_variant				CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211	3641	3641			6087	protein-coding gene	gene with protein product		600910			NA	8666396, 9730618	Standard	NM_002195	NM_002195	NA	Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.390C>T	9.37:g.5233847C>T		NA	A8K678|Q5W127	37	CCDS6459.1																																																																																			INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000051616.2		+	ENST00000239316.4	Silent	SNP	9 : 5233847 - 5233847 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	232	13
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91	81	85			NA	NA	12		NA											NA				25398284		2203	4300	6503	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703	3845	3845			6407	protein-coding gene	gene with protein product		190070	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog, v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	KRAS2	NA		Standard	NM_033360	NM_004985	NA	Approved	KRAS1	uc001rgp.1	P01116		ENST00000311936.3:c.35G>A	12.37:g.25398284C>T	ENSP00000308495:p.Gly12Asp	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000412230.1		-	ENST00000311936.3	Missense_Mutation	SNP	12 : 25398284 - 25398284 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	160	13
LACE1	246269	broad.mit.edu	37	6	108768484	108768484	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:108768484G>T	ENST00000368977.4	+	8	1061	c.875G>T	c.(874-876)gGa>gTa	p.G292V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	292							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCTGCTGCAGGAAAACTCTAC	0.323		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	99	98			NA	NA	6		NA											NA				108768484		2203	4300	6503	SO:0001583	missense			AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537	246269	246269			16411	protein-coding gene	gene with protein product	ATPase family gene 1 homolog (S. cerevisiae)				NA	12079282	Standard	NM_145315	XM_005266885	NA	Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.875G>T	6.37:g.108768484G>T	ENSP00000357973:p.Gly292Val	NA	Q8N6A3	37	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.55|13.55	2.270717|2.270717	0.40194|0.40194	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.44582	.|0.1300	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|P	.|0.36837	.|0.571	.|B	.|0.38921	.|0.285	.|T	.|0.53844	.|-0.8381	.|9	.|0.66056	.|D	.|0.02	-13.3981|-13.3981	13.1411|13.1411	0.59436|0.59436	0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0	.|.	.|292	.|Q8WV93	.|LACE1_HUMAN	X|V	160|292	.|.	.|ENSP00000357973:G292V	E|G	+|+	1|2	0|0	LACE1|LACE1	108875177|108875177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.690000|4.690000	0.61731|0.61731	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GAA|GGA	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041719.4		+	ENST00000368977.4	Missense_Mutation	SNP	6 : 108768484 - 108768484 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	326	27
LIG1	3978	broad.mit.edu	37	19	48654515	48654515	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:48654515G>A	ENST00000263274.7	-	7	967	c.548C>T	c.(547-549)aCg>aTg	p.T183M	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	183					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGGGAGGCGTGGTGGGCTG	0.567		NA						Nucleotide excision repair (NER)						NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													154	143	147			NA	NA	19		NA											NA				48654515		2203	4300	6503	SO:0001583	missense				CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	3978	3978	6.5.1.1		6598	protein-coding gene	gene with protein product		126391			NA		Standard	NM_000234	XM_005258934	NA	Approved		uc002pia.1	P18858		ENST00000263274.7:c.548C>T	19.37:g.48654515G>A	ENSP00000263274:p.Thr183Met	NA	B2RAI8|Q32P23	37	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070591	0.20147	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000542460	T;T;T	0.58060	0.49;0.36;3.03	4.54	-0.526	0.11913	.	1.498560	0.03481	N	0.215059	T	0.47600	0.1454	L	0.51422	1.61	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.39231	-0.9624	10	0.52906	T	0.07	-0.0148	7.3598	0.26739	0.4529:0.0:0.5471:0.0	.	152;183	B4DTU4;P18858	.;DNLI1_HUMAN	M	183;214;152;151	ENSP00000263274:T183M;ENSP00000442841:T152M;ENSP00000445928:T151M	ENSP00000263274:T183M	T	-	2	0	LIG1	53346327	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.139000	0.16036	-0.084000	0.12595	-0.254000	0.11334	ACG	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000465575.1		-	ENST00000263274.7	Missense_Mutation	SNP	19 : 48654515 - 48654515 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	1426	85
LRRK2	120892	broad.mit.edu	37	12	40677757	40677757	+	Silent	SNP	G	G	A	rs146103273	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:40677757G>A	ENST00000298910.7	+	19	2380	c.2322G>A	c.(2320-2322)gcG>gcA	p.A774A	LRRK2_ENST00000343742.2_Silent_p.A774A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	774					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TACGAAAAGCGTTGACGATAA	0.433		NA											G	2	9e-04	NA	0.0028	2184	NA	1	,	,	NA	2e-04	0.0013	NA	NA	9e-04	0.9756	EXOME	NA	NA	9e-04	SNP								NA				0								G		3,4403	6.2+/-15.9	0,3,2200	154	145	148		2322	-10.3	0	12	dbSNP_134	148	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	LRRK2	NM_198578.3		0,9,6494	AA,AG,GG	NA	0.0698,0.0681,0.0692		774/2528	40677757	9,12997	2203	4300	6503	SO:0001819	synonymous_variant			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906	120892	120892		Parkinson disease	18618	protein-coding gene	gene with protein product		609007	Parkinson disease (autosomal dominant) 8	PARK8	NA	15541308	Standard	XM_058513	NM_198578	NA	Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2322G>A	12.37:g.40677757G>A		NA	A6NJU2|Q6ZS50|Q8NCX9	37	CCDS31774.1																																																																																			LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000277179.1		+	ENST00000298910.7	Silent	SNP	12 : 40677757 - 40677757 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	675	73
MACF1	23499	broad.mit.edu	37	1	39749752	39749752	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:39749752G>T	ENST00000372915.3	+	9	1032	c.945G>T	c.(943-945)agG>agT	p.R315S	MACF1_ENST00000317713.7_Missense_Mutation_p.R315S|MACF1_ENST00000539005.1_Missense_Mutation_p.R315S|MACF1_ENST00000545844.1_Missense_Mutation_p.R315S|MACF1_ENST00000361689.2_Missense_Mutation_p.R315S|MACF1_ENST00000564288.1_Missense_Mutation_p.R310S|MACF1_ENST00000567887.1_Missense_Mutation_p.R347S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	315					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGACTCCAGGTGGCAAGAAT	0.443		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													110	106	107			NA	NA	1		NA											NA				39749752		2203	4300	6503	SO:0001583	missense			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603	23499	23499		EF-hand domain containing	13664	protein-coding gene	gene with protein product	actin cross-linking factor, 620 kDa actin binding protein, macrophin 1, trabeculin-alpha, actin cross-linking family protein 7	608271			NA	7635207, 10529403	Standard	NM_033044	NM_012090	NA	Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.945G>T	1.37:g.39749752G>T	ENSP00000362006:p.Arg315Ser	NA	E9PJT0|O75053|Q5VW20|Q8WXY2|Q9H540|Q9UKP0|Q9ULG9	37		.	.	.	.	.	.	.	.	.	.	G	16.69	3.192152	0.58017	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.4	4.48	0.54585	.	.	.	.	.	T	0.64516	0.2605	L	0.35249	1.045	0.80722	D	1	B;D	0.62365	0.066;0.991	B;P	0.54026	0.041;0.74	T	0.66995	-0.5782	9	0.87932	D	0	.	9.0036	0.36097	0.0793:0.1485:0.7721:0.0	.	315;280	F8W8Q1;Q9UPN3-3	.;.	S	315;315;315;331;315;315;273;464;475	ENSP00000439537:R315S;ENSP00000362006:R315S;ENSP00000354573:R315S;ENSP00000313438:R315S;ENSP00000444364:R315S;ENSP00000435070:R273S;ENSP00000437059:R464S	ENSP00000313438:R315S	R	+	3	2	MACF1	39522339	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.617000	0.24359	1.249000	0.43950	0.561000	0.74099	AGG	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392096.1		+	ENST00000372915.3	Missense_Mutation	SNP	1 : 39749752 - 39749752 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	631	29
NR4A2	4929	broad.mit.edu	37	2	157186342	157186342	+	Silent	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:157186342C>T	ENST00000339562.4	-	3	719	c.357G>A	c.(355-357)tcG>tcA	p.S119S	NR4A2_ENST00000426264.1_Silent_p.S56S|NR4A2_ENST00000409572.1_Silent_p.S119S|NR4A2_ENST00000539077.1_Silent_p.S130S|NR4A2_ENST00000409108.2_Silent_p.S119S|NR4A2_ENST00000429376.1_Silent_p.S56S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	119	Gln-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGTAGTAAACCGACCCGGAGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													68	73	71			NA	NA	2		NA											NA				157186342		2203	4300	6503	SO:0001819	synonymous_variant			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234	NA	4929		Nuclear hormone receptors	7981	protein-coding gene	gene with protein product		601828		NURR1	NA	7706727	Standard		NM_006186	NA	Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.357G>A	2.37:g.157186342C>T		NA	Q16311|Q53RZ2	37	CCDS2201.1																																																																																			NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000254909.2		-	ENST00000339562.4	Silent	SNP	2 : 157186342 - 157186342 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	643	50
PAX1	5075	broad.mit.edu	37	20	21689881	21689881	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:21689881G>A	ENST00000398485.2	+	4	1135	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	PAX1_ENST00000444366.2_Missense_Mutation_p.V337M|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	361					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCTCTCTGCCGTGGGCGGCTT	0.697		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	69	65			NA	NA	20		NA											NA				21689881		2198	4281	6479	SO:0001583	missense				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813	5075	5075		Paired boxes	8615	protein-coding gene	gene with protein product		167411	paired box gene 1		NA	1358810	Standard		NM_006192	NA	Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1081G>A	20.37:g.21689881G>A	ENSP00000381499:p.Val361Met	NA	B4E0D6|Q642X9|Q6NTC0|Q9Y558	37	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491158	0.44249	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98862	-4.78;-5.19	5.66	4.71	0.59529	.	0.070054	0.64402	D	0.000019	D	0.97704	0.9247	M	0.73962	2.25	0.37476	D	0.915822	D;P;D	0.57257	0.968;0.852;0.979	B;B;P	0.44518	0.332;0.079;0.452	D	0.97965	1.0340	10	0.54805	T	0.06	.	11.8979	0.52665	0.1451:0.0:0.8549:0.0	.	337;267;361	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	M	361;337	ENSP00000381499:V361M;ENSP00000410355:V337M	ENSP00000381499:V361M	V	+	1	0	PAX1	21637881	0.998000	0.40836	0.888000	0.34837	0.476000	0.33039	3.037000	0.49775	1.392000	0.46585	0.462000	0.41574	GTG	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000078282.3		+	ENST00000398485.2	Missense_Mutation	SNP	20 : 21689881 - 21689881 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	1309	47
PDE10A	10846	broad.mit.edu	37	6	165832222	165832222	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:165832222A>T	ENST00000366882.1	-	12	1023	c.869T>A	c.(868-870)tTc>tAc	p.F290Y	PDE10A_ENST00000539869.2_Missense_Mutation_p.F300Y|PDE10A_ENST00000354448.4_Missense_Mutation_p.F290Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	290	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTCCACCTGGAAAAGCGCACA	0.388		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(22;308 615 5753 12038 40624)							NA				0													95	87	90			NA	NA	6		NA											NA				165832222		2203	4300	6503	SO:0001583	missense			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	10846	10846	3.1.4.17	Phosphodiesterases	8772	protein-coding gene	gene with protein product		610652			NA	10373451	Standard		NM_001130690	NA	Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.869T>A	6.37:g.165832222A>T	ENSP00000355847:p.Phe290Tyr	NA	Q6FHX1|Q9HCP9|Q9NTV4|Q9Y5T1	37		.	.	.	.	.	.	.	.	.	.	A	26.7	4.762878	0.89932	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69561	-0.41;-0.41	5.03	5.03	0.67393	GAF (2);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.63428	1.95	0.80722	D	1	D;D	0.62365	0.991;0.988	D;D	0.76071	0.982;0.987	T	0.76887	-0.2793	10	0.54805	T	0.06	.	14.784	0.69787	1.0:0.0:0.0:0.0	.	300;290	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Y	290;318;300;290;289	ENSP00000355847:F290Y;ENSP00000346435:F290Y	ENSP00000341187:F300Y	F	-	2	0	PDE10A	165752212	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	8.749000	0.91619	1.903000	0.55091	0.459000	0.35465	TTC	PDE10A-001	PUTATIVE	basic	protein_coding	NA	protein_coding	OTTHUMT00000043031.1		-	ENST00000366882.1	Missense_Mutation	SNP	6 : 165832222 - 165832222 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	323	35
PRAME	23532	broad.mit.edu	37	22	22892513	22892513	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr22:22892513A>C	ENST00000398741.1	-	5	894	c.588T>G	c.(586-588)atT>atG	p.I196M	PRAME_ENST00000398743.2_Missense_Mutation_p.I196M|PRAME_ENST00000405655.3_Missense_Mutation_p.I196M|PRAME_ENST00000424204.2_Missense_Mutation_p.I180M|PRAME_ENST00000539862.1_Missense_Mutation_p.I180M|PRAME_ENST00000402697.1_Missense_Mutation_p.I196M|PRAME_ENST00000543184.1_Missense_Mutation_p.I196M	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	196					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCACTTTCTCAATGAGGTAGG	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Melanoma(73;1707 1838 15168 27201)							NA				0													153	146	148			NA	NA	22		NA											NA				22892513		2203	4300	6503	SO:0001583	missense			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686	23532	23532		-	9336	protein-coding gene	gene with protein product	cancer/testis antigen 130	606021		MAPE	NA	9047241, 10591208	Standard	NM_206953	XM_006725402	NA	Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.588T>G	22.37:g.22892513A>C	ENSP00000381726:p.Ile196Met	NA	B2R6Y7|O43481|Q8IXN8	37	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	.	4.313	0.057476	0.08339	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106	T;T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45	3.24	-5.23	0.02798	.	1.278720	0.05507	N	0.559414	T	0.10337	0.0253	N	0.17800	0.525	0.09310	N	1	B	0.28208	0.203	B	0.28465	0.09	T	0.30119	-0.9989	10	0.39692	T	0.17	.	7.634	0.28255	0.3112:0.508:0.1808:0.0	.	196	P78395	PRAME_HUMAN	M	196;196;196;196;180;196;180;196	ENSP00000381728:I196M;ENSP00000445675:I196M;ENSP00000381726:I196M;ENSP00000384343:I196M;ENSP00000445097:I180M;ENSP00000385198:I196M;ENSP00000407342:I180M;ENSP00000407320:I196M	ENSP00000381726:I196M	I	-	3	3	PRAME	21222513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.489000	0.02306	-2.030000	0.00929	-1.256000	0.01477	ATT	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321644.1		-	ENST00000398741.1	Missense_Mutation	SNP	22 : 22892513 - 22892513 C PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	883	59
PSG8	440533	broad.mit.edu	37	19	43268187	43268187	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:43268187T>C	ENST00000404209.4	-	2	407	c.311A>G	c.(310-312)aAt>aGt	p.N104S	PSG8_ENST00000401467.2_Missense_Mutation_p.N104S|PSG8_ENST00000306511.4_Missense_Mutation_p.N104S|PSG8_ENST00000406636.3_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	104	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CAGGGATGCATTGGAATATAT	0.423		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													370	375	373			NA	NA	19		NA											NA				43268187		2203	4299	6502	SO:0001583	missense			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467	NA	440533		Immunoglobulin superfamily / V-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing	9525	protein-coding gene	gene with protein product		176397			NA	1672663, 1572651	Standard		NM_182707	NA	Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000404209.4:c.311A>G	19.37:g.43268187T>C	ENSP00000385869:p.Asn104Ser	NA	B2RPL4|B4DTI6|O60410|Q68CR6	37	CCDS46091.1	.	.	.	.	.	.	.	.	.	.	t	12.62	1.993629	0.35131	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.01963	4.53;4.53;4.53	1.35	1.35	0.21983	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11965	0.0291	M	0.89534	3.04	0.09310	N	1	D;D;D;P;P	0.71674	0.998;0.971;0.963;0.908;0.925	D;P;D;P;P	0.75020	0.985;0.831;0.945;0.716;0.813	T	0.06356	-1.0831	9	0.87932	D	0	.	4.8841	0.13694	0.0:0.0:0.0:1.0	.	104;104;104;104;104	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	S	104	ENSP00000385869:N104S;ENSP00000386090:N104S;ENSP00000305005:N104S	ENSP00000305005:N104S	N	-	2	0	PSG8	47960027	0.108000	0.22018	0.088000	0.20740	0.189000	0.23516	0.679000	0.25291	0.879000	0.35944	0.155000	0.16302	AAT	PSG8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000321407.3		-	ENST00000404209.4	Missense_Mutation	SNP	19 : 43268187 - 43268187 C PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	3175	266
PTPRT	11122	broad.mit.edu	37	20	41101179	41101179	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:41101179C>T	ENST00000373198.4	-	8	1412	c.1177G>A	c.(1177-1179)Gtg>Atg	p.V393M	PTPRT_ENST00000373193.3_Missense_Mutation_p.V393M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V393M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373187.1_Missense_Mutation_p.V393M	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	NA	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGATTTCCACGTTCTGTGGG	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													48	55	53			NA	NA	20		NA											NA				41101179		2049	4214	6263	SO:0001583	missense			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090	11122	11122		Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	9682	protein-coding gene	gene with protein product		608712			NA	9486824, 9602027	Standard		NM_133170	NA	Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373198.4:c.1177G>A	20.37:g.41101179C>T	ENSP00000362294:p.Val393Met	NA	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	37		.	.	.	.	.	.	.	.	.	.	C	24.9	4.577402	0.86645	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.71	5.71	0.89125	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.51422	1.61	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.61722	0.893;0.674	T	0.67684	-0.5607	10	0.66056	D	0.02	.	19.8432	0.96699	0.0:1.0:0.0:0.0	.	393;393	O14522-1;O14522	.;PTPRT_HUMAN	M	393	ENSP00000362286:V393M;ENSP00000362283:V393M;ENSP00000362289:V393M;ENSP00000348408:V393M;ENSP00000362294:V393M;ENSP00000362280:V393M;ENSP00000362297:V393M	ENSP00000348408:V393M	V	-	1	0	PTPRT	40534593	0.998000	0.40836	0.965000	0.40720	0.815000	0.46073	3.895000	0.56258	2.700000	0.92200	0.462000	0.41574	GTG	PTPRT-005	KNOWN	basic|appris_candidate_longest	protein_coding	NA	protein_coding	OTTHUMT00000080318.2		-	ENST00000373198.4	Missense_Mutation	SNP	20 : 41101179 - 41101179 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	333	14
RP11-108K14.8	0	broad.mit.edu	37	10	135215660	135215660	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:135215660A>G	ENST00000468317.2	+	9	851	c.596A>G	c.(595-597)gAg>gGg	p.E199G	MTG1_ENST00000477902.2_Missense_Mutation_p.E153G|MTG1_ENST00000317502.6_Missense_Mutation_p.E194G						NA											NA						CAGGTCTCTGAGCGGCCCCTG	0.657		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	94	94			NA	NA	10		NA											NA				135215660		2203	4300	6503	SO:0001583	missense											NA	NA			NA							NA					NA						ENST00000468317.2:c.596A>G	10.37:g.135215660A>G	ENSP00000436767:p.Glu199Gly	NA		37		.	.	.	.	.	.	.	.	.	.	a	15.43	2.831567	0.50845	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508	T;T;T	0.14144	3.04;3.04;2.53	5.59	5.59	0.84812	GTP-binding domain, HSR1-related (1);	0.099558	0.64402	D	0.000002	T	0.15392	0.0371	L	0.35854	1.095	0.58432	D	0.999995	B;B	0.29136	0.008;0.234	B;B	0.37451	0.037;0.25	T	0.10154	-1.0642	10	0.29301	T	0.29	-25.2729	13.7015	0.62611	1.0:0.0:0.0:0.0	.	143;194	E7EVK2;Q9BT17	.;MTG1_HUMAN	G	199;194;143	ENSP00000436767:E199G;ENSP00000323047:E194G;ENSP00000393480:E143G	ENSP00000323047:E194G	E	+	2	0	AL360181.1;MTG1	135065650	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	5.721000	0.68477	2.126000	0.65437	0.366000	0.22137	GAG	RP11-108K14.8-001	PUTATIVE	non_canonical_U12|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000390432.1		+	ENST00000468317.2	Missense_Mutation	SNP	10 : 135215660 - 135215660 G PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	1057	64
RTN3	10313	broad.mit.edu	37	11	63486571	63486571	+	Silent	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:63486571G>A	ENST00000377819.5	+	3	751	c.597G>A	c.(595-597)ttG>ttA	p.L199L	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.L180L|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Silent_p.L87L	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	199					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAACTGCATTGGATGCTGATG	0.413		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													84	87	86			NA	NA	11		NA											NA				63486571		2201	4298	6499	SO:0001819	synonymous_variant			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318	10313	10313			10469	protein-coding gene	gene with protein product	neuroendocrine-specific protein-like 2, NSP-like protein II, isoforme III, ASY interacting protein, homolog of ASY protein	604249			NA	10331947	Standard	NM_006054	NM_006054	NA	Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.597G>A	11.37:g.63486571G>A		NA	B3KQS2|B7Z308|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	37	CCDS58141.1																																																																																			RTN3-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000397846.1		+	ENST00000377819.5	Silent	SNP	11 : 63486571 - 63486571 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	387	8
S1PR2	9294	broad.mit.edu	37	19	10334708	10334708	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:10334708T>C	ENST00000590320.1	-	2	984	c.874A>G	c.(874-876)Agc>Ggc	p.S292G		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	292					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGTCCCGGCTGCGCCACGTG	0.687		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Pancreas(194;229 3020 15179 45747)							NA				0													36	38	37			NA	NA	19		NA											NA				10334708		2202	4300	6502	SO:0001583	missense			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534	9294	9294		GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate	3169	protein-coding gene	gene with protein product		605111	endothelial differentiation, sphingolipid G-protein-coupled receptor, 5	EDG5	NA	8087418, 8878560	Standard	NM_004230	NM_004230	NA	Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.874A>G	19.37:g.10334708T>C	ENSP00000466933:p.Ser292Gly	NA	Q86UN8	37	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.765117	0.90020	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.69412	-0.5152	9	0.66056	D	0.02	.	14.5692	0.68200	0.0:0.0:0.0:1.0	.	292	O95136	S1PR2_HUMAN	G	292	.	ENSP00000322049:S292G	S	-	1	0	S1PR2	10195708	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.091000	0.63221	0.454000	0.30748	AGC	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000451194.1		-	ENST00000590320.1	Missense_Mutation	SNP	19 : 10334708 - 10334708 C PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	236	10
SH3BP4	23677	broad.mit.edu	37	2	235949561	235949561	+	Missense_Mutation	SNP	A	A	C	rs138775253		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:235949561A>C	ENST00000409212.1	+	4	655	c.148A>C	c.(148-150)Aac>Cac	p.N50H	SH3BP4_ENST00000344528.4_Missense_Mutation_p.N50H|SH3BP4_ENST00000392011.2_Missense_Mutation_p.N50H			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	50					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCTCGTAGACAACCCCACACC	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													115	115	115			NA	NA	2		NA											NA				235949561		2203	4300	6503	SO:0001583	missense			AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147	23677	23677			10826	protein-coding gene	gene with protein product		605611			NA	10644451	Standard		NM_014521	NA	Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.148A>C	2.37:g.235949561A>C	ENSP00000386862:p.Asn50His	NA	O95082|Q309A3|Q53QD0|Q53TD1	37	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481890	0.44147	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.44	4.25	0.50352	Src homology-3 domain (1);	0.509628	0.23624	N	0.046211	T	0.17704	0.0425	N	0.14661	0.345	0.39020	D	0.959721	P;P	0.41041	0.736;0.604	B;B	0.36885	0.235;0.235	T	0.06303	-1.0834	10	0.54805	T	0.06	0.9174	10.559	0.45133	0.8552:0.0:0.0:0.1448	.	50;50	A8K594;Q9P0V3	.;SH3B4_HUMAN	H	50	ENSP00000375867:N50H;ENSP00000403251:N50H;ENSP00000386862:N50H;ENSP00000340237:N50H;ENSP00000415391:N50H	ENSP00000340237:N50H	N	+	1	0	SH3BP4	235614300	0.997000	0.39634	0.976000	0.42696	0.823000	0.46562	3.448000	0.52943	0.859000	0.35456	0.533000	0.62120	AAC	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000329763.1		+	ENST00000409212.1	Missense_Mutation	SNP	2 : 235949561 - 235949561 C PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	621	38
SLIT3	6586	broad.mit.edu	37	5	168199801	168199801	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:168199801T>C	ENST00000519560.1	-	14	1863	c.1444A>G	c.(1444-1446)Aag>Gag	p.K482E	SLIT3_ENST00000332966.8_Missense_Mutation_p.K482E|SLIT3_ENST00000404867.3_Missense_Mutation_p.K482E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	482	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGAACTTCTTGCTCTTG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Ovarian(29;311 847 10864 17279 24903)							NA				0													49	49	49			NA	NA	5		NA											NA				168199801		2203	4300	6503	SO:0001583	missense			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347	6586	6586			11087	protein-coding gene	gene with protein product		603745	slit (Drosophila) homolog 3	SLIL2	NA	9693030, 9813312	Standard	NM_003062	NM_001271946	NA	Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1444A>G	5.37:g.168199801T>C	ENSP00000430333:p.Lys482Glu	NA	A6H8U9|O95804|Q9UFH5	37	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135148	0.77662	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76060	-0.99;-0.97;-0.97	5.49	5.49	0.81192	Cysteine-rich flanking region, C-terminal (2);	0.091877	0.64402	D	0.000001	T	0.66277	0.2773	L	0.28608	0.87	0.80722	D	1	P;P;P	0.50528	0.936;0.738;0.627	B;B;B	0.42245	0.381;0.195;0.369	T	0.71906	-0.4451	10	0.66056	D	0.02	.	15.5931	0.76554	0.0:0.0:0.0:1.0	.	482;482;482	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	E	482	ENSP00000430333:K482E;ENSP00000332164:K482E;ENSP00000384890:K482E	ENSP00000332164:K482E	K	-	1	0	SLIT3	168132379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.033000	0.88852	2.075000	0.62263	0.459000	0.35465	AAG	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000252792.4		-	ENST00000519560.1	Missense_Mutation	SNP	5 : 168199801 - 168199801 C PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	363	10
SOAT1	6646	broad.mit.edu	37	1	179320574	179320574	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:179320574C>T	ENST00000367619.3	+	15	1716	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	SOAT1_ENST00000540564.1_Missense_Mutation_p.R467C|SOAT1_ENST00000539888.1_Missense_Mutation_p.R460C|SOAT1_ENST00000535686.1_Missense_Mutation_p.R261C	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	525					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATGGTATGCACGTCAGCACTG	0.433		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													203	188	193			NA	NA	1		NA											NA				179320574		2203	4300	6503	SO:0001583	missense			L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	6646	6646	2.3.1.26		11177	protein-coding gene	gene with protein product	acyl-Coenzyme A: cholesterol acyltransferase	102642	sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1	SOAT, STAT	NA	8407899	Standard	NM_003101	NM_003101	NA	Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1573C>T	1.37:g.179320574C>T	ENSP00000356591:p.Arg525Cys	NA	A6NC40|A9Z1V7|Q5T0X4|Q8N1E4	37	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067359	0.93898	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.37058	1.25;1.24;1.31;1.22	5.58	5.58	0.84498	.	0.175782	0.53938	N	0.000049	T	0.61726	0.2370	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.953;0.988	T	0.64753	-0.6333	10	0.87932	D	0	-6.7329	17.0671	0.86562	0.0:1.0:0.0:0.0	.	467;525	A8K3P4;P35610	.;SOAT1_HUMAN	C	460;467;261;525	ENSP00000441356:R460C;ENSP00000445315:R467C;ENSP00000442503:R261C;ENSP00000356591:R525C	ENSP00000356591:R525C	R	+	1	0	SOAT1	177587197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.572000	0.60886	2.618000	0.88619	0.563000	0.77884	CGT	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000085286.2		+	ENST00000367619.3	Missense_Mutation	SNP	1 : 179320574 - 179320574 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	1082	91
SPATC1	375686	broad.mit.edu	37	8	145096207	145096207	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:145096207A>G	ENST00000377470.3	+	4	1483	c.1381A>G	c.(1381-1383)Atc>Gtc	p.I461V	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	461										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGTCCAGCATCTTCCCAGA	0.632		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													81	60	67			NA	NA	8		NA											NA				145096207		2203	4300	6503	SO:0001583	missense			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583	375686	375686			30510	protein-coding gene	gene with protein product		610874			NA	15280373	Standard	NM_198572	NM_198572	NA	Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1381A>G	8.37:g.145096207A>G	ENSP00000366690:p.Ile461Val	NA	Q5U5I8|Q7Z6L7	37	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802272	0.50315	.	.	ENSG00000186583	ENST00000377470	T	0.39056	1.1	4.48	4.48	0.54585	.	0.219834	0.35615	N	0.003091	T	0.40932	0.1137	L	0.42581	1.335	0.80722	D	1	P	0.42584	0.784	P	0.48166	0.569	T	0.12734	-1.0536	10	0.20519	T	0.43	-18.189	10.4401	0.44460	1.0:0.0:0.0:0.0	.	461	Q76KD6	SPERI_HUMAN	V	461	ENSP00000366690:I461V	ENSP00000366690:I461V	I	+	1	0	SPATC1	145168195	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.117000	0.41939	1.794000	0.52575	0.379000	0.24179	ATC	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000346926.1		+	ENST00000377470.3	Missense_Mutation	SNP	8 : 145096207 - 145096207 G PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	231	19
SZT2	23334	broad.mit.edu	37	1	43888232	43888232	+	Silent	SNP	G	G	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:43888232G>T	ENST00000562955.1	+	13	1851	c.1851G>T	c.(1849-1851)ctG>ctT	p.L617L		NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	617						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCCTCCCTGACCTCTCTGC	0.582		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	91	92			NA	NA	1		NA											NA				43888232		876	1991	2867	SO:0001819	synonymous_variant			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198	23334	23334			29040	protein-coding gene	gene with protein product	seizure threshold 2 homolog A (mouse), seizure threshold 2 homolog B (mouse)	615463	chromosome 1 open reading frame 84, KIAA0467	C1orf84, KIAA0467	NA	9455484	Standard	NM_015284	NM_015284	NA	Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.1851G>T	1.37:g.43888232G>T		NA	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	37	CCDS30694.2																																																																																			SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000019517.3		+	ENST00000562955.1	Silent	SNP	1 : 43888232 - 43888232 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	558	32
TM9SF1	10548	broad.mit.edu	37	14	24659700	24659700	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr14:24659700G>A	ENST00000530611.1	-	9	1973	c.1940C>T	c.(1939-1941)gCc>gTc	p.A647V	TM9SF1_ENST00000261789.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A351V|TM9SF1_ENST00000396854.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A647V|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A438V			O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	438					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AAAGGGGCTGGCGTTGTTCTT	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													144	116	126			NA	NA	14		NA											NA				24659700		2203	4300	6503	SO:0001583	missense			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926	10548	10548			11864	protein-coding gene	gene with protein product					NA	9332367	Standard	NM_006405	NM_006405	NA	Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000530611.1:c.1940C>T	14.37:g.24659700G>A	ENSP00000433967:p.Ala647Val	NA	D3DS65|Q96FI8	37		.	.	.	.	.	.	.	.	.	.	G	33	5.206576	0.95033	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.02	5.02	0.67125	.	0.056859	0.64402	D	0.000001	T	0.51381	0.1671	M	0.66297	2.02	0.80722	D	1	P;P	0.43662	0.599;0.814	P;P	0.47346	0.472;0.544	T	0.55909	-0.8066	10	0.56958	D	0.05	-4.0085	15.8364	0.78801	0.0:0.0:1.0:0.0	.	438;438	Q86SZ6;O15321	.;TM9S1_HUMAN	V	438;438;647;351;438;647	ENSP00000261789:A438V;ENSP00000432997:A438V;ENSP00000451949:A647V;ENSP00000434387:A351V;ENSP00000380063:A438V;ENSP00000433967:A647V	ENSP00000433967:A647V	A	-	2	0	TM9SF1;RP11-468E2.1	23729540	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	8.286000	0.89916	2.317000	0.78254	0.655000	0.94253	GCC	TM9SF1-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000392565.1		-	ENST00000530611.1	Missense_Mutation	SNP	14 : 24659700 - 24659700 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	530	47
TMEM145	284339	broad.mit.edu	37	19	42821981	42821981	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:42821981T>A	ENST00000598766.1	+	12	1093	c.1093T>A	c.(1093-1095)Ttt>Att	p.F365I	TMEM145_ENST00000301204.3_Missense_Mutation_p.F341I			Q8NBT3	TM145_HUMAN	transmembrane protein 145	341						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACTGCGACACTTTCCTGAGAA	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													206	163	177			NA	NA	19		NA											NA				42821981		2203	4300	6503	SO:0001583	missense			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619	284339	284339			26912	protein-coding gene	gene with protein product					NA		Standard	NM_173633	NM_173633	NA	Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000598766.1:c.1093T>A	19.37:g.42821981T>A	ENSP00000470827:p.Phe365Ile	NA		37		.	.	.	.	.	.	.	.	.	.	T	19.70	3.875924	0.72180	.	.	ENSG00000167619	ENST00000301204	T	0.42900	0.96	4.55	4.55	0.56014	Rhodopsin-like GPCR transmembrane domain (1);	0.406915	0.23626	N	0.046195	T	0.38639	0.1048	L	0.50333	1.59	0.40337	D	0.978994	B	0.33413	0.411	B	0.37015	0.239	T	0.21690	-1.0238	10	0.23302	T	0.38	-16.4936	12.1572	0.54083	0.0:0.0:0.0:1.0	.	341	Q8NBT3	TM145_HUMAN	I	341	ENSP00000301204:F341I	ENSP00000301204:F341I	F	+	1	0	TMEM145	47513821	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	6.453000	0.73488	1.832000	0.53329	0.482000	0.46254	TTT	TMEM145-004	PUTATIVE	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000463738.1		+	ENST00000598766.1	Missense_Mutation	SNP	19 : 42821981 - 42821981 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	715	66
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCAC	0.552		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	115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	GRCh37	CM076568|CM951234	TP53	M							71	61	64			NA	NA	17		NA											NA				7577114		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.824G>T	17.37:g.7577114C>A	ENSP00000391127:p.Cys275Phe	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	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536533	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	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	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.993;1.0;0.993;0.993	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	275;275;275;275;275;264;143	ENSP00000352610:C275F;ENSP00000269305:C275F;ENSP00000398846:C275F;ENSP00000391127:C275F;ENSP00000391478:C275F;ENSP00000425104:C143F	ENSP00000269305:C275F	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577114 - 7577114 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	224	18
TPP2	7174	broad.mit.edu	37	13	103299607	103299607	+	Silent	SNP	A	A	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr13:103299607A>G	ENST00000376052.3	+	21	2557	c.2541A>G	c.(2539-2541)ttA>ttG	p.L847L	TPP2_ENST00000376065.4_Silent_p.L847L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	847					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAACTATTATATGAATCTG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	71	70			NA	NA	13		NA											NA				103299607		2203	4300	6503	SO:0001819	synonymous_variant			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	7174	7174	3.4.14.10		12016	protein-coding gene	gene with protein product		190470			NA	1670990	Standard		NM_003291	NA	Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376052.3:c.2541A>G	13.37:g.103299607A>G		NA	Q5VZU8	37																																																																																				TPP2-002	NOVEL	basic	protein_coding	NA	protein_coding	OTTHUMT00000045684.2		+	ENST00000376052.3	Silent	SNP	13 : 103299607 - 103299607 G PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	266	23
TTN	7273	broad.mit.edu	37	2	179476557	179476557	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:179476557G>A	ENST00000589042.1	-	268	50703	c.50479C>T	c.(50479-50481)Cgg>Tgg	p.R16827W	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14259W|TTN_ENST00000460472.2_Missense_Mutation_p.R7762W|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7887W|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7954W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R15186W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15186	Ig-like 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R7762W(1)|p.R7954W(1)|p.R14259W(1)|p.R7887W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCAGCCCGAACCTGAAAC	0.458		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				4	Substitution - Missense(4)	large_intestine(4)											130	124	126			NA	NA	2		NA											NA				179476557		1922	4140	6062	SO:0001583	missense			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657	7273	7273		Immunoglobulin superfamily / I-set domain containing, Immunoglobulin superfamily / Immunoglobulin-like domain containing, Fibronectin type III domain containing	12403	protein-coding gene	gene with protein product		188840	cardiomyopathy, dilated 1G (autosomal dominant)	CMD1G	NA	2129545, 10051295	Standard	NM_133378	NM_003319	NA	Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000589042.1:c.50479C>T	2.37:g.179476557G>A	ENSP00000467141:p.Arg16827Trp	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	G	8.954	0.968839	0.18659	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.97	3.08	0.35506	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72285	0.3441	M	0.78801	2.425	0.43988	D	0.996681	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69654	0.965;0.965;0.965;0.965	T	0.73924	-0.3829	9	0.87932	D	0	.	10.0401	0.42153	0.0646:0.0:0.6758:0.2596	.	7762;7887;7954;15186	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	14259;7762;7954;7887;7762	ENSP00000343764:R14259W;ENSP00000434586:R7762W;ENSP00000340554:R7954W;ENSP00000352154:R7887W	ENSP00000340554:R7954W	R	-	1	2	TTN	179184802	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	2.635000	0.46537	0.784000	0.33661	-0.188000	0.12872	CGG	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179476557 - 179476557 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	804	44
USP48	84196	broad.mit.edu	37	1	22030753	22030753	+	Splice_Site	SNP	A	A	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:22030753A>G	ENST00000529637.1	-	20	2585		c.e20+1		USP48_ENST00000400301.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000308271.9_Splice_Site			Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	NA					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATGAAAACTTACTGGGCTCAG	0.368		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													75	75	75			NA	NA	1		NA											NA				22030753		2203	4300	6503	SO:0001630	splice_region_variant			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686	84196	84196		Ubiquitin-specific peptidases	18533	protein-coding gene	gene with protein product			ubiquitin specific protease 31, ubiquitin specific protease 48	USP31	NA	12838346	Standard	NM_032236	XM_005246009	NA	Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000529637.1:c.2551+1T>C	1.37:g.22030753A>G		NA	Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.969098	0.74131	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8242	0.70097	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP48	21903340	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.561000	0.82288	2.094000	0.63399	0.533000	0.62120	.	USP48-009	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000393678.1	Intron	-	ENST00000529637.1	Splice_Site	SNP	1 : 22030753 - 22030753 G PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	521	39
WWP2	11060	broad.mit.edu	37	16	69973005	69973005	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:69973005G>A	ENST00000359154.2	+	22	2520	c.2419G>A	c.(2419-2421)Ggg>Agg	p.G807R	WWP2_ENST00000356003.2_Missense_Mutation_p.G807R|WWP2_ENST00000448661.1_Missense_Mutation_p.G807R|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.G691R|WWP2_ENST00000568684.1_Missense_Mutation_p.G368R	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	807	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGCCCGTCGGGGGATTTGC	0.597		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													76	61	66			NA	NA	16		NA											NA				69973005		2197	4300	6497	SO:0001583	missense			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373	11060	11060			16804	protein-coding gene	gene with protein product		602308			NA	9169421, 12167593	Standard	NM_007014	NM_007014	NA	Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2419G>A	16.37:g.69973005G>A	ENSP00000352069:p.Gly807Arg	NA	A6NEP1|B2R706|Q96CZ2|Q9BWN6	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058259	0.76074	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.16	5.16	0.70880	HECT (4);	0.000000	0.85682	D	0.000000	T	0.81250	0.4783	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84898	0.0840	9	.	.	.	.	18.6562	0.91455	0.0:0.0:1.0:0.0	.	807	O00308	WWP2_HUMAN	R	807;807;807;694;691	ENSP00000352069:G807R;ENSP00000396871:G807R;ENSP00000348283:G807R;ENSP00000445616:G691R	.	G	+	1	0	WWP2	68530506	1.000000	0.71417	0.969000	0.41365	0.092000	0.18411	9.824000	0.99380	2.410000	0.81850	0.561000	0.74099	GGG	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000268954.1		+	ENST00000359154.2	Missense_Mutation	SNP	16 : 69973005 - 69973005 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	91	10
ZC2HC1A	51101	broad.mit.edu	37	8	79627515	79627515	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:79627515G>A	ENST00000263849.4	+	8	866	c.764G>A	c.(763-765)gGt>gAt	p.G255D		NM_016010.2	NP_057094.2	Q96GY0	F164A_HUMAN	zinc finger, C2HC-type containing 1A	255											NA						CCTGCCCCAGGTGTGCTTACA	0.358		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	85	84			NA	NA	8		NA											NA				79627515		2203	4300	6503	SO:0001583	missense				CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427	51101	51101		Zinc fingers, C2HC-type containing	24277	protein-coding gene	gene with protein product			chromosome 8 open reading frame 70, family with sequence similarity 164, member A	C8orf70, FAM164A	NA	10810093	Standard	NM_016010	NM_016010	NA	Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.764G>A	8.37:g.79627515G>A	ENSP00000263849:p.Gly255Asp	NA	Q9Y372	37	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735741	0.30774	.	.	ENSG00000104427	ENST00000263849	T	0.50001	0.76	4.93	2.1	0.27182	.	0.354675	0.30901	N	0.008656	T	0.37945	0.1022	L	0.48642	1.525	0.09310	N	0.999996	B	0.31837	0.342	B	0.36289	0.221	T	0.20075	-1.0286	9	.	.	.	-0.8394	6.5107	0.22220	0.0716:0.131:0.6614:0.136	.	255	Q96GY0	F164A_HUMAN	D	255	ENSP00000263849:G255D	.	G	+	2	0	FAM164A	79790070	0.998000	0.40836	0.130000	0.21974	0.942000	0.58702	1.787000	0.38704	0.252000	0.21531	0.650000	0.86243	GGT	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000379423.2		+	ENST00000263849.4	Missense_Mutation	SNP	8 : 79627515 - 79627515 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	315	16
ZFYVE28	57732	broad.mit.edu	37	4	2341323	2341323	+	Silent	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr4:2341323C>T	ENST00000509171.1	-	3	564	c.237G>A	c.(235-237)ccG>ccA	p.P79P	ZFYVE28_ENST00000515169.1_Silent_p.P56P|ZFYVE28_ENST00000503000.1_Silent_p.P126P|ZFYVE28_ENST00000511071.1_Silent_p.P126P|ZFYVE28_ENST00000290974.2_Silent_p.P126P|ZFYVE28_ENST00000515312.1_Silent_p.P56P	NM_001172658.1	NP_001166129.1	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	126					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTTGGCCAGCGGGCGCATGG	0.692		NA											C	1	5e-04	0.002	NA	2184	NA	0.9998	,	,	NA	3e-04	NA	NA	NA	5e-04	0.8457	EXOME	NA	NA	8e-04	SNP								NA				0													39	36	37			NA	NA	4		NA											NA				2341323		2202	4298	6500	SO:0001819	synonymous_variant			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733	57732	57732		Zinc fingers, FYVE domain containing	29334	protein-coding gene	gene with protein product		614176			NA	10997877	Standard	XM_035371	NM_020972	NA	Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000509171.1:c.237G>A	4.37:g.2341323C>T		NA	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19	37	CCDS54710.1																																																																																			ZFYVE28-008	PUTATIVE	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360085.1		-	ENST00000509171.1	Silent	SNP	4 : 2341323 - 2341323 T PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	80	6
ZKSCAN7	55888	broad.mit.edu	37	3	44611616	44611616	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:44611616C>A	ENST00000273320.3	+	6	1443	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.F338L|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2			zinc finger with KRAB and SCAN domains 7	NA											NA						AAAATGATTTCTTGGAAATAA	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													89	94	92			NA	NA	3		NA											NA				44611616		2203	4300	6503	SO:0001583	missense			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345	55888	55888		Zinc fingers, C2H2-type, -, -, -	12955	protein-coding gene	gene with protein product			zinc finger protein 64, zinc finger protein 448, zinc finger protein 167	ZNF64, ZNF448, ZNF167	NA	7814019, 1505991	Standard	NM_018651	XM_005265323	NA	Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1014C>A	3.37:g.44611616C>A	ENSP00000273320:p.Phe338Leu	NA		37	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163148	0.38217	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.05199	3.48;3.48;3.49	4.4	1.5	0.22942	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.15052	0.012;0.003	T	0.48151	-0.9060	9	0.17369	T	0.5	-2.1889	3.5129	0.07714	0.1811:0.5324:0.0:0.2865	.	208;338	A7MAY2;Q9P0L1	.;ZN167_HUMAN	L	338;338;187	ENSP00000395524:F338L;ENSP00000273320:F338L;ENSP00000405034:F187L	ENSP00000273320:F338L	F	+	3	2	ZNF167	44586620	0.000000	0.05858	0.018000	0.16275	0.086000	0.17979	-0.786000	0.04623	0.482000	0.27582	-0.188000	0.12872	TTC	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000256752.4		+	ENST00000273320.3	Missense_Mutation	SNP	3 : 44611616 - 44611616 A PAAD-TCGA-HZ-A49G-Tumor-SM-47KKO	804	35
