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
ADAMTS7	11173	broad.mit.edu	37	15	79090455	79090455	+	Splice_Site	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:79090455T>C	ENST00000388820.4	-	3	667	c.457A>G	c.(457-459)Aaa>Gaa	p.K153E	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	153					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AACACACCTTTCTGGGGAAGA	0.652		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	67	68			NA	NA	15		NA											NA				79090455		2196	4293	6489	SO:0001630	splice_region_variant			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378	11173	11173		ADAM metallopeptidases with thrombospondin type 1 motif	223	protein-coding gene	gene with protein product	COMPase, a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein	605009	a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7		NA	10464288	Standard	NM_014272	NM_014272	NA	Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.457-1A>G	15.37:g.79090455T>C		NA	Q14F51|Q6P7J9	37	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.722889	0.48728	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.05786	3.39	4.5	3.36	0.38483	Peptidase M12B, propeptide (1);	0.255369	0.38492	N	0.001670	T	0.08802	0.0218	M	0.68317	2.08	0.36372	D	0.861369	B;B;P	0.35527	0.24;0.24;0.507	B;B;B	0.37731	0.253;0.232;0.257	T	0.23511	-1.0186	10	0.17369	T	0.5	.	10.1068	0.42539	0.0:0.0:0.1867:0.8133	.	153;153;153	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	E	153	ENSP00000373472:K153E	ENSP00000373472:K153E	K	-	1	0	ADAMTS7	76877510	1.000000	0.71417	0.999000	0.59377	0.620000	0.37586	3.905000	0.56333	0.671000	0.31185	0.260000	0.18958	AAA	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000421331.1	Missense_Mutation	-	ENST00000388820.4	Splice_Site	SNP	15 : 79090455 - 79090455 C PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	357	190
AHNAK	79026	broad.mit.edu	37	11	62303520	62303521	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:62303520_62303521insC	ENST00000378024.4	-	3	324_325	c.50_51insG	c.(49-51)ggtfs	p.G17fs	AHNAK_ENST00000530124.1_Frame_Shift_Ins_p.G17fs|AHNAK_ENST00000257247.7_Frame_Shift_Ins_p.G17fs	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	17	PDZ.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGAGCCACTACCCTGCCAGTT	0.639		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001589	frameshift_variant			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942	79026	79026			347	protein-coding gene	gene with protein product	desmoyokin	103390	AHNAK nucleoprotein (desmoyokin)		NA	7987395, 12153988	Standard	NM_024060	NM_024060	NA	Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.51dupG	11.37:g.62303523_62303523dupC	ENSP00000367263:p.Gly17fs	NA		37	CCDS31584.1																																																																																			AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000395572.1		-	ENST00000378024.4	Frame_Shift_Ins	INS	11 : 62303520 - 62303521 C PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	566	194
AQP7	364	broad.mit.edu	37	9	33386077	33386077	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:33386077C>T	ENST00000537089.1	-	5	565	c.247G>A	c.(247-249)Gag>Aag	p.E83K	AQP7_ENST00000377425.4_Missense_Mutation_p.E118K|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.E175K			O14520	AQP7_HUMAN	aquaporin 7	175					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACTGACCTCATTCAGGAAG	0.592		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	46	48			NA	NA	9		NA											NA				33386077		2203	4300	6503	SO:0001583	missense			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269	364	364		Ion channels / Aquaporins	640	protein-coding gene	gene with protein product		602974		AQP7L	NA	9252401	Standard	NM_001170	NM_001170	NA	Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.247G>A	9.37:g.33386077C>T	ENSP00000441619:p.Glu83Lys	NA	Q5T5L9|Q8NHM3	37		.	.	.	.	.	.	.	.	.	.	N	24.0	4.485614	0.84854	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	3.98	3.98	0.46160	Aquaporin-like (2);	0.106561	0.64402	D	0.000003	T	0.67618	0.2912	H	0.98238	4.18	0.44789	D	0.997793	P;D;P;D	0.63046	0.9;0.992;0.948;0.982	P;D;P;P	0.70227	0.643;0.968;0.771;0.752	T	0.78526	-0.2170	10	0.87932	D	0	-26.5908	11.903	0.52694	0.0:1.0:0.0:0.0	.	174;175;118;175	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	K	83;174;43;175;118;83;174;175;111	ENSP00000441619:E83K;ENSP00000368821:E174K;ENSP00000412868:E43K;ENSP00000297988:E175K;ENSP00000396111:E118K;ENSP00000410138:E83K;ENSP00000368820:E174K;ENSP00000439534:E175K;ENSP00000368817:E111K	ENSP00000297988:E175K	E	-	1	0	AQP7	33376077	0.998000	0.40836	0.999000	0.59377	0.984000	0.73092	1.723000	0.38053	2.507000	0.84556	0.645000	0.84053	GAG	AQP7-202	KNOWN	basic	protein_coding	NA	protein_coding			-	ENST00000537089.1	Missense_Mutation	SNP	9 : 33386077 - 33386077 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	369	9
ARMC12	221481	broad.mit.edu	37	6	35705825	35705825	+	Missense_Mutation	SNP	G	G	A	rs138730820	by1000genomes	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:35705825G>A	ENST00000373866.3	+	2	207	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	ARMC12_ENST00000373869.3_Missense_Mutation_p.R62Q|ARMC12_ENST00000288065.2_Missense_Mutation_p.R89Q			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	62							binding				NA						GAGCGAGAGCGGCACGGGCGG	0.587		NA									OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													60	64	62			NA	NA	6		NA											NA				35705825		2203	4300	6503	SO:0001583	missense			AK058119	CCDS4809.1, CCDS69093.1, CCDS69094.1	6p21.31	2013-02-14	2011-12-14	2011-12-14	ENSG00000157343	ENSG00000157343	221481	221481		Armadillo repeat containing	21099	protein-coding gene	gene with protein product			chromosome 6 open reading frame 81	C6orf81	NA		Standard	NM_145028	XM_005248920	NA	Approved	FLJ25390	uc003ola.3	Q5T9G4	OTTHUMG00000014577	ENST00000373866.3:c.185G>A	6.37:g.35705825G>A	ENSP00000362973:p.Arg62Gln	857	Q8NEB2|Q96LL8	37		.	.	.	.	.	.	.	.	.	.	G	27.9	4.874396	0.91664	.	.	ENSG00000157343	ENST00000373869;ENST00000288065;ENST00000373866	T;T;T	0.45668	0.89;0.89;0.89	5.58	4.71	0.59529	.	0.000000	0.50627	D	0.000115	T	0.25975	0.0633	L	0.32530	0.975	0.32988	D	0.524529	B;D	0.76494	0.366;0.999	B;P	0.55871	0.05;0.786	T	0.05178	-1.0901	10	0.14252	T	0.57	.	10.851	0.46769	0.0879:0.0:0.9121:0.0	.	62;89	Q5T9G4-3;Q5T9G4-2	.;.	Q	62;89;62	ENSP00000362976:R62Q;ENSP00000288065:R89Q;ENSP00000362973:R62Q	ENSP00000288065:R89Q	R	+	2	0	C6orf81	35813803	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.731000	0.38135	1.353000	0.45828	0.558000	0.71614	CGG	ARMC12-002	KNOWN	basic|appris_principal	protein_coding	NA	protein_coding	OTTHUMT00000040311.2		+	ENST00000373866.3	Missense_Mutation	SNP	6 : 35705825 - 35705825 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	626	263
ATP8A1	10396	broad.mit.edu	37	4	42580334	42580334	+	Silent	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr4:42580334G>A	ENST00000381668.5	-	12	1302	c.1071C>T	c.(1069-1071)atC>atT	p.I357I	ATP8A1_ENST00000264449.10_Silent_p.I357I	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	357					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CCAATAAGCTGATAGGAATGA	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													112	113	113			NA	NA	4		NA											NA				42580334		2203	4300	6503	SO:0001819	synonymous_variant			AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406	10396	10396		ATPases / P-type	13531	protein-coding gene	gene with protein product		609542	ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1		NA	10198212, 9548971	Standard	NM_006095	NM_006095	NA	Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1071C>T	4.37:g.42580334G>A		NA	Q32M36|Q4W5J7|Q4W5P2	37	CCDS3466.1																																																																																			ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000216861.2		-	ENST00000381668.5	Silent	SNP	4 : 42580334 - 42580334 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	577	231
ATXN2L	11273	broad.mit.edu	37	16	28841310	28841310	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr16:28841310C>T	ENST00000564304.1	+	8	1130	c.965C>T	c.(964-966)aCt>aTt	p.T322I	ATXN2L_ENST00000395547.2_Missense_Mutation_p.T322I|ATXN2L_ENST00000325215.6_Missense_Mutation_p.T322I|ATXN2L_ENST00000336783.4_Missense_Mutation_p.T322I|ATXN2L_ENST00000570200.1_Missense_Mutation_p.T322I|ATXN2L_ENST00000340394.8_Missense_Mutation_p.T322I|ATXN2L_ENST00000382686.4_Missense_Mutation_p.T322I			Q8WWM7	ATX2L_HUMAN	ataxin 2-like	322						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GATGGGCGCACTGAAGAGGAG	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													50	44	46			NA	NA	16		NA											NA				28841310		2197	4300	6497	SO:0001583	missense				CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488	11273	11273			31326	protein-coding gene	gene with protein product		607931			NA	11784712, 14769358	Standard	NM_007245	NM_007245	NA	Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000564304.1:c.965C>T	16.37:g.28841310C>T	ENSP00000457613:p.Thr322Ile	NA	B9EGM2|O95135|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	37		.	.	.	.	.	.	.	.	.	.	.	23.5	4.424961	0.83667	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000359153;ENST00000382686;ENST00000325215	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.84;0.83	5.7	5.7	0.88788	LsmAD domain (1);	0.000000	0.85682	D	0.000000	T	0.63271	0.2497	L	0.43152	1.355	0.52099	D	0.999944	D;D;D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D;D;D	0.72338	0.961;0.961;0.977;0.977;0.961;0.961;0.977;0.961	T	0.64292	-0.6442	10	0.87932	D	0	-12.0156	18.5887	0.91200	0.0:1.0:0.0:0.0	.	322;322;322;322;322;322;322;322	Q8WWM7-6;Q8WWM7-5;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;.;ATX2L_HUMAN;.;.;.;.	I	322	ENSP00000341459:T322I;ENSP00000378917:T322I;ENSP00000338718:T322I;ENSP00000372133:T322I;ENSP00000315650:T322I	ENSP00000315650:T322I	T	+	2	0	ATXN2L	28748811	0.877000	0.30153	0.994000	0.49952	0.990000	0.78478	1.577000	0.36515	2.702000	0.92279	0.491000	0.48974	ACT	ATXN2L-008	NOVEL	basic|appris_candidate|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000432048.1		+	ENST00000564304.1	Missense_Mutation	SNP	16 : 28841310 - 28841310 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	212	128
BAI2	576	broad.mit.edu	37	1	32196436	32196436	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:32196436C>T	ENST00000373658.3	-	29	4686	c.4345G>A	c.(4345-4347)Gtg>Atg	p.V1449M	BAI2_ENST00000373655.2_Missense_Mutation_p.V1449M|BAI2_ENST00000398547.1_Missense_Mutation_p.V1382M|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Missense_Mutation_p.V1058M|BAI2_ENST00000257070.4_Missense_Mutation_p.V1416M|BAI2_ENST00000398556.3_Missense_Mutation_p.V1364M|BAI2_ENST00000527361.1_Missense_Mutation_p.V1416M|BAI2_ENST00000398538.1_Missense_Mutation_p.V1437M|BAI2_ENST00000398542.1_Missense_Mutation_p.V1349M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1449					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GAGCCGGGCACGGTGCGAGGC	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													41	50	47			NA	NA	1		NA											NA				32196436		2201	4298	6499	SO:0001583	missense			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753	576	576		-, GPCR / Class B : Orphans	944	protein-coding gene	gene with protein product		602683			NA	9533023	Standard	NM_001703	XM_006710783	NA	Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4345G>A	1.37:g.32196436C>T	ENSP00000362762:p.Val1449Met	NA	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	37	CCDS346.2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061905	0.76187	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538	T;T;T;T;T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45;3.45;3.45;3.45;3.45	5.74	5.74	0.90152	.	0.000000	0.38897	N	0.001528	T	0.19248	0.0462	L	0.43152	1.355	0.39977	D	0.974866	D;D;P;D;D;D;D	0.89917	0.997;0.996;0.454;1.0;0.997;0.993;1.0	D;P;B;D;D;P;D	0.65233	0.933;0.85;0.072;0.925;0.933;0.713;0.925	T	0.00057	-1.2171	10	0.54805	T	0.06	.	19.9066	0.97010	0.0:1.0:0.0:0.0	.	1416;1437;1058;1364;1449;1449;1437	O60241-4;O60241-3;B4DKC3;A2A3C6;O60241-2;O60241;A2A3C2	.;.;.;.;.;BAI2_HUMAN;.	M	1364;1382;1449;1449;1349;1416;1416;1058;1437	ENSP00000381564:V1364M;ENSP00000381555:V1382M;ENSP00000362762:V1449M;ENSP00000362759:V1449M;ENSP00000381550:V1349M;ENSP00000257070:V1416M;ENSP00000435397:V1416M;ENSP00000391071:V1058M;ENSP00000381548:V1437M	ENSP00000257070:V1416M	V	-	1	0	BAI2	31969023	0.999000	0.42202	0.997000	0.53966	0.975000	0.68041	4.281000	0.58965	2.884000	0.98904	0.655000	0.94253	GTG	BAI2-015	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381838.1		-	ENST00000373658.3	Missense_Mutation	SNP	1 : 32196436 - 32196436 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	533	103
C1orf87	127795	broad.mit.edu	37	1	60491098	60491098	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:60491098C>G	ENST00000371201.3	-	8	1209	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	C1orf87_ENST00000450089.2_Missense_Mutation_p.D139H	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	368							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TAACCCAAATCTTGATGGTTA	0.363		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		NSCLC(75;811 1386 4923 13371 51772)							NA				0													114	117	116			NA	NA	1		NA											NA				60491098		2203	4300	6503	SO:0001583	missense			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598	127795	127795			28547	protein-coding gene	gene with protein product	carcinoma-related EF-hand protein				NA	12477932	Standard	NM_152377	NM_152377	NA	Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.1102G>C	1.37:g.60491098C>G	ENSP00000360244:p.Asp368His	NA	Q6ZU07|Q8IVS0	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935246	0.52866	.	.	ENSG00000162598	ENST00000371201;ENST00000450089	T	0.61158	0.13	5.09	2.2	0.27929	EF-hand-like domain (1);	0.584662	0.16488	N	0.212227	T	0.47820	0.1466	L	0.56769	1.78	0.80722	D	1	B	0.31931	0.347	B	0.29176	0.099	T	0.44065	-0.9352	10	0.72032	D	0.01	-3.802	5.065	0.14578	0.0:0.6433:0.1715:0.1851	.	368	Q8N0U7	CA087_HUMAN	H	368;139	ENSP00000360244:D368H	ENSP00000360244:D368H	D	-	1	0	C1orf87	60263686	0.912000	0.30974	0.991000	0.47740	0.886000	0.51366	1.044000	0.30329	0.322000	0.23283	0.555000	0.69702	GAT	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000024943.1		-	ENST00000371201.3	Missense_Mutation	SNP	1 : 60491098 - 60491098 G PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	338	110
CD44	960	broad.mit.edu	37	11	35218359	35218359	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:35218359T>G	ENST00000352818.4	+	5	667				CD44_ENST00000437706.2_Missense_Mutation_p.F245C|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000428726.2_Missense_Mutation_p.F245C|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.F245C|CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.F245C			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)	TGGGATTGGTTTTCATGGTTG	0.378		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													121	104	110			NA	NA	11		NA											NA				35218359		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.667+6747T>G	11.37:g.35218359T>G		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	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.77|12.77	2.039051|2.039051	0.35989|0.35989	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726|ENST00000525685	T;T;T;T|T	0.18502|0.20463	2.34;2.21;2.33;2.41|2.07	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.497457|0.497457	0.17058|0.17058	N|N	0.188655|0.188655	T|T	0.22475|0.22475	0.0542|0.0542	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	P|.	0.52710|.	0.707|.	T|T	0.02950|0.02950	-1.1090|-1.1090	10|8	0.35671|0.34782	T|T	0.21|0.22	-0.253|-0.253	11.1936|11.1936	0.48700|0.48700	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	245|.	P16070|.	CD44_HUMAN|.	C|V	245|113	ENSP00000414567:F245C;ENSP00000391008:F245C;ENSP00000403990:F245C;ENSP00000398632:F245C|ENSP00000436623:F113V	ENSP00000398632:F245C|ENSP00000436623:F113V	F|F	+|+	2|1	0|0	CD44|CD44	35174935|35174935	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.132000|0.132000	0.20833|0.20833	3.427000|3.427000	0.52785|0.52785	1.873000|1.873000	0.54277|0.54277	0.533000|0.533000	0.62120|0.62120	TTT|TTT	CD44-007	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388932.1		+	ENST00000352818.4	Intron	SNP	11 : 35218359 - 35218359 G PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	240	84
CDKN2A	1029	broad.mit.edu	37	9	21971063	21971068	+	In_Frame_Del	DEL	GGTGCA	GGTGCA	-	rs34886500		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	GGTGCA	GGTGCA	-	-	GGTGCA	GGTGCA	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:21971063_21971068delGGTGCA	ENST00000479692.2	-	2	151_156	c.137_142delTGCACC	c.(136-144)ctgcaccgg>cgg	p.LH46del	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_In_Frame_Del_p.AP112del|CDKN2A_ENST00000578845.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000498628.2_In_Frame_Del_p.LH46del|CDKN2A_ENST00000446177.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000361570.3_In_Frame_Del_p.AP153del|CDKN2A_ENST00000579122.1_In_Frame_Del_p.LH97del|CDKN2A_ENST00000494262.1_In_Frame_Del_p.LH46del|CDKN2A_ENST00000304494.5_In_Frame_Del_p.LH97del|CDKN2A_ENST00000497750.1_In_Frame_Del_p.LH46del|CDKN2A_ENST00000579755.1_In_Frame_Del_p.AP112del|CDKN2A_ENST00000498124.1_In_Frame_Del_p.LH97del			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	97					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.L97R(5)|p.L97P(4)|p.H98P(3)|p.H98R(2)|p.H83fs*2(2)|p.R99W(2)|p.H98Y(1)|p.A153A(1)|p.H98H(1)|p.0(1)|p.L97fs*21(1)|p.T93_D105del(1)|p.R137fs*48(1)|p.A68fs*3(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)		GCCCCGGCCCGGTGCAGCACCACCAG	0.748		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				1385	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(17)|Deletion - Frameshift(5)|Substitution - coding silent(2)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(284)|skin(181)|central_nervous_system(168)|lung(148)|urinary_tract(91)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(55)|oesophagus(52)|pleura(51)|ovary(36)|kidney(32)|pancreas(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CM045408|CM056555|CM980329	CDKN2A	M	rs34886500						NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001651	inframe_deletion			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.137_142delTGCACC	9.37:g.21971063_21971068delGGTGCA	ENSP00000466887:p.Leu46_His47del	NA	D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	37																																																																																				CDKN2A-008	PUTATIVE	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000051922.3		-	ENST00000479692.2	In_Frame_Del	DEL	9 : 21971063 - 21971068 - PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	162	71
COL24A1	255631	broad.mit.edu	37	1	86497562	86497562	+	Splice_Site	SNP	C	C	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:86497562C>G	ENST00000370571.2	-	14	2414	c.2048G>C	c.(2047-2049)aGa>aCa	p.R683T	COL24A1_ENST00000436319.1_Splice_Site_p.R683T	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	683	Collagen-like 3.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GATACTCACTCTAAGCCCAGG	0.338		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	83	82			NA	NA	1		NA											NA				86497562		1825	4067	5892	SO:0001630	splice_region_variant			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502	255631	255631		Collagens	20821	protein-coding gene	gene with protein product		610025			NA		Standard	NM_152890	NM_152890	NA	Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.2049+1G>C	1.37:g.86497562C>G		NA	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	37	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.843508	0.32606	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.94330	-3.4;-3.4	5.87	3.98	0.46160	.	0.392618	0.18587	N	0.136858	D	0.84737	0.5538	L	0.49256	1.55	0.46631	D	0.999131	B	0.10296	0.003	B	0.10450	0.005	T	0.79497	-0.1779	10	0.10902	T	0.67	.	16.8292	0.85939	0.0:0.758:0.242:0.0	.	683	Q17RW2	COOA1_HUMAN	T	683	ENSP00000359603:R683T;ENSP00000392531:R683T	ENSP00000359603:R683T	R	-	2	0	COL24A1	86270150	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.828000	0.48120	0.912000	0.36772	0.655000	0.94253	AGA	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000029335.4	Missense_Mutation	-	ENST00000370571.2	Splice_Site	SNP	1 : 86497562 - 86497562 G PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	576	238
COL4A5	1287	broad.mit.edu	37	X	107925082	107925082	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:107925082G>T	ENST00000328300.6	+	47	4424	c.4180G>T	c.(4180-4182)Ggt>Tgt	p.G1394C	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1388C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1388	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGCTAAAGGGTCTACCAGG	0.458		NA							Alport syndrome with Diffuse Leiomyomatosis					NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													80	68	72			NA	NA	X		NA											NA				107925082		2203	4300	6503	SO:0001583	missense	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153	1287	1287		Collagens	2207	protein-coding gene	gene with protein product		303630	Alport syndrome	ASLN, ATS	NA		Standard		NM_000495	NA	Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000328300.6:c.4180G>T	X.37:g.107925082G>T	ENSP00000331902:p.Gly1394Cys	NA	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	37	CCDS35366.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.549782	0.65311	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.97089	-4.24;-4.24	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	H	0.97587	4.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99236	1.0883	10	0.87932	D	0	.	17.7015	0.88296	0.0:0.0:1.0:0.0	.	1391;1388	E7EVY4;P29400	.;CO4A5_HUMAN	C	1394;1388;1394	ENSP00000331902:G1394C;ENSP00000354505:G1388C	ENSP00000331902:G1394C	G	+	1	0	COL4A5	107811738	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	8.937000	0.92936	2.196000	0.70406	0.506000	0.49869	GGT	COL4A5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000360023.1		+	ENST00000328300.6	Missense_Mutation	SNP	X : 107925082 - 107925082 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	186	119
COMMD4	54939	broad.mit.edu	37	15	75631625	75631625	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:75631625C>T	ENST00000267935.8	+	6	521	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	COMMD4_ENST00000338995.6_Missense_Mutation_p.R108C|COMMD4_ENST00000564815.1_Missense_Mutation_p.R86C|COMMD4_ENST00000562789.1_Missense_Mutation_p.R114C|COMMD4_ENST00000567195.1_Intron	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	108						cytoplasm	protein binding	p.R108C(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCCTGTGCCGCTGTTATGA	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				1	Substitution - Missense(1)	kidney(1)						C	CYS/ARG	0,4394		0,0,2197	30	32	31		322	4.6	1	15		31	3,8583	3.0+/-9.4	0,3,4290	no	missense	COMMD4	NM_017828.3	180	0,3,6487	TT,TC,CC	NA	0.0349,0.0,0.0231	benign	108/200	75631625	3,12977	2197	4293	6490	SO:0001583	missense			AY542160	CCDS10277.1, CCDS66834.1, CCDS66835.1, CCDS73764.1	15q24.2	2012-09-20			ENSG00000140365	ENSG00000140365	54939	54939			26027	protein-coding gene	gene with protein product					NA	15799966	Standard	NM_017828	XM_005254511	NA	Approved	FLJ20452	uc002azy.3	Q9H0A8	OTTHUMG00000142823	ENST00000267935.8:c.322C>T	15.37:g.75631625C>T	ENSP00000267935:p.Arg108Cys	NA	B2RBN4|Q7L637|Q9NX43	37	CCDS10277.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.034546	0.54896	0.0	3.49E-4	ENSG00000140365	ENST00000267935;ENST00000338995	T;T	0.11169	2.8;2.8	4.58	4.58	0.56647	.	0.059165	0.64402	D	0.000002	T	0.19725	0.0474	M	0.81341	2.54	0.80722	D	1	B;B	0.32425	0.125;0.371	B;B	0.34093	0.024;0.175	T	0.04900	-1.0919	10	0.59425	D	0.04	.	16.78	0.85561	0.0:1.0:0.0:0.0	.	108;108	Q9H0A8-2;Q9H0A8	.;COMD4_HUMAN	C	108	ENSP00000267935:R108C;ENSP00000340867:R108C	ENSP00000267935:R108C	R	+	1	0	COMMD4	73418678	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.077000	0.50089	2.275000	0.75901	0.597000	0.82753	CGC	COMMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000286414.1		+	ENST00000267935.8	Missense_Mutation	SNP	15 : 75631625 - 75631625 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	154	10
CXorf57	55086	broad.mit.edu	37	X	105879775	105879775	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:105879775G>A	ENST00000372548.4	+	7	1415	c.1306G>A	c.(1306-1308)Gca>Aca	p.A436T	CXorf57_ENST00000372544.2_Missense_Mutation_p.A436T	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	436										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTCTAGTGGCATATTTTGT	0.343		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													150	134	140			NA	NA	X		NA											NA				105879775		2203	4299	6502	SO:0001583	missense			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231	55086	55086			25486	protein-coding gene	gene with protein product					NA		Standard	NM_018015	NM_018015	NA	Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1306G>A	X.37:g.105879775G>A	ENSP00000361628:p.Ala436Thr	NA	Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9NWA6	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.666538	0.00765	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.39592	1.11;1.12;1.07	4.33	-2.71	0.05986	.	0.272597	0.40640	N	0.001042	T	0.08626	0.0214	N	0.00436	-1.5	0.21020	N	0.999809	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.35475	-0.9787	10	0.02654	T	1	-0.2914	9.5053	0.39042	0.5012:0.0:0.4988:0.0	.	436;436;436	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	T	436;436;244	ENSP00000361623:A436T;ENSP00000361628:A436T;ENSP00000405866:A244T	ENSP00000361623:A436T	A	+	1	0	CXorf57	105766431	0.999000	0.42202	0.066000	0.19879	0.273000	0.26683	1.543000	0.36147	-0.798000	0.04444	-0.444000	0.05651	GCA	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000057800.2		+	ENST00000372548.4	Missense_Mutation	SNP	X : 105879775 - 105879775 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	269	6
CYB5R4	51167	broad.mit.edu	37	6	84649843	84649843	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:84649843C>T	ENST00000369681.5	+	13	1317	c.1177C>T	c.(1177-1179)Ctc>Ttc	p.L393F	CYB5R4_ENST00000479164.1_3'UTR	NM_016230.3	NP_057314.2	Q7L1T6	NB5R4_HUMAN	cytochrome b5 reductase 4	NA					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTAGAAGATCTCTTTTTGTT	0.348		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		Esophageal Squamous(86;1289 1332 25971 40349 52675)							NA				0													104	109	107			NA	NA	6		NA											NA				84649843		2203	4300	6503	SO:0001583	missense			AF169803	CCDS5000.2	6q14.2	2012-09-19		2005-07-13	ENSG00000065615	ENSG00000065615	51167	51167	1.6.2.2		20147	protein-coding gene	gene with protein product		608343	NADPH cytochrome B5 oxidoreductase	NCB5OR	NA	10611283	Standard	NM_016230	NM_016230	NA	Approved	b5+b5R, dJ676J13.1	uc003pkf.3	Q7L1T6	OTTHUMG00000015118	ENST00000369681.5:c.1177C>T	6.37:g.84649843C>T	ENSP00000358695:p.Leu393Phe	NA	B1AEM2|Q5TGI9|Q9NUE4|Q9UHI9	37	CCDS5000.2	.	.	.	.	.	.	.	.	.	.	C	20.0	3.930026	0.73327	.	.	ENSG00000065615	ENST00000369681	D	0.95412	-3.7	5.93	5.93	0.95920	.	0.057149	0.64402	D	0.000001	D	0.95146	0.8427	M	0.78344	2.41	0.80722	D	1	P	0.48294	0.908	P	0.46885	0.53	D	0.95436	0.8521	10	0.72032	D	0.01	.	15.4232	0.75031	0.0:0.8614:0.1385:0.0	.	393	Q7L1T6	NB5R4_HUMAN	F	393	ENSP00000358695:L393F	ENSP00000358695:L393F	L	+	1	0	CYB5R4	84706562	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.088000	0.41663	2.805000	0.96524	0.655000	0.94253	CTC	CYB5R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000041362.4		+	ENST00000369681.5	Missense_Mutation	SNP	6 : 84649843 - 84649843 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	416	226
DLEC1	9940	broad.mit.edu	37	3	38087134	38087134	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:38087134T>C	ENST00000308059.6	+	2	533	c.512T>C	c.(511-513)aTg>aCg	p.M171T	DLEC1_ENST00000346219.3_Missense_Mutation_p.M171T|DLEC1_ENST00000452631.2_Missense_Mutation_p.M171T			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	171					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAGCGGGTCATGAGCCAGGCT	0.532		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	66	65			NA	NA	3		NA											NA				38087134		1942	4139	6081	SO:0001583	missense			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226	9940	9940			2899	protein-coding gene	gene with protein product	cilia and flagella associated protein 81	604050			NA	10213508	Standard	NM_007337	XM_005265630	NA	Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.512T>C	3.37:g.38087134T>C	ENSP00000308597:p.Met171Thr	NA	Q9NSW0|Q9NTG5	37	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	T	3.529	-0.096060	0.07010	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.04454	3.64;3.62;3.86	4.8	1.09	0.20402	.	0.831243	0.11038	N	0.606427	T	0.03520	0.0101	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.47824	-0.9087	10	0.21540	T	0.41	-1.8806	6.245	0.20811	0.0:0.3221:0.0:0.6779	.	171;171;171	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	171	ENSP00000308597:M171T;ENSP00000315914:M171T;ENSP00000410427:M171T	ENSP00000308597:M171T	M	+	2	0	DLEC1	38062138	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.141000	0.10327	0.040000	0.15660	0.533000	0.62120	ATG	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253745.3		+	ENST00000308059.6	Missense_Mutation	SNP	3 : 38087134 - 38087134 C PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	466	204
GAK	2580	broad.mit.edu	37	4	864531	864531	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr4:864531C>T	ENST00000314167.4	-	19	2326	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.R660Q	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	739					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGCTCCTCCCGGCTGGAAAA	0.562		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								C	GLN/ARG	0,4406		0,0,2203	103	96	98		2216	5.6	1	4		98	1,8599	1.2+/-3.3	0,1,4299	no	missense	GAK	NM_005255.2	43	0,1,6502	TT,TC,CC	NA	0.0116,0.0,0.0077	possibly-damaging	739/1312	864531	1,13005	2203	4300	6503	SO:0001583	missense			D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950	2580	2580		Heat shock proteins / DNAJ (HSP40)	4113	protein-coding gene	gene with protein product	auxilin-2	602052			NA	9299234	Standard	NM_005255	NM_005255	NA	Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.2216G>A	4.37:g.864531C>T	ENSP00000314499:p.Arg739Gln	NA	Q9BVY6	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037804	0.75617	0.0	1.16E-4	ENSG00000178950	ENST00000314167;ENST00000511163	T;T	0.77358	-0.65;-1.09	5.62	5.62	0.85841	.	0.125201	0.56097	D	0.000034	T	0.75700	0.3885	L	0.57536	1.79	0.80722	D	1	P;P;P;P	0.51791	0.791;0.948;0.791;0.898	B;P;B;B	0.44897	0.126;0.463;0.126;0.27	T	0.72567	-0.4254	10	0.12103	T	0.63	-23.5808	17.155	0.86788	0.0:1.0:0.0:0.0	.	660;660;739;635	Q5U4P5;E9PGR2;O14976;Q59HA5	.;.;GAK_HUMAN;.	Q	739;660	ENSP00000314499:R739Q;ENSP00000421361:R660Q	ENSP00000314499:R739Q	R	-	2	0	GAK	854531	1.000000	0.71417	0.965000	0.40720	0.997000	0.91878	7.656000	0.83736	2.643000	0.89663	0.655000	0.94253	CGG	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000239188.1		-	ENST00000314167.4	Missense_Mutation	SNP	4 : 864531 - 864531 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	472	17
IFT122	55764	broad.mit.edu	37	3	129195581	129195581	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:129195581C>T	ENST00000296266.3	+	12	1429	c.1237C>T	c.(1237-1239)Cgc>Tgc	p.R413C	IFT122_ENST00000349441.2_Missense_Mutation_p.R251C|IFT122_ENST00000504021.1_Missense_Mutation_p.R256C|IFT122_ENST00000347300.2_Missense_Mutation_p.R303C|IFT122_ENST00000348417.2_Missense_Mutation_p.R362C|IFT122_ENST00000431818.2_Missense_Mutation_p.R212C|IFT122_ENST00000440957.2_Missense_Mutation_p.R153C|IFT122_ENST00000507564.1_Missense_Mutation_p.R354C	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	362					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TTACAAGGACCGCTATGCCTA	0.537		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													92	90	91			NA	NA	3		NA											NA				129195581		2203	4300	6503	SO:0001583	missense			AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913	55764	55764		WD repeat domain containing, Intraflagellar transport homologs	13556	protein-coding gene	gene with protein product		606045	WD repeat domain 10, intraflagellar transport 122 homolog (Chlamydomonas)	WDR10	NA	11242542	Standard	NM_018262	NM_052985	NA	Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000296266.3:c.1237C>T	3.37:g.129195581C>T	ENSP00000296266:p.Arg413Cys	NA	Q53G36|Q9HAT9|Q9UF80	37	CCDS3060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.043912|5.043912	0.93685|0.93685	.|.	.|.	ENSG00000163913|ENSG00000163913	ENST00000512157;ENST00000515783|ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957	.|T;T;T;D;T;T;T;D	.|0.90261	.|0.5;-0.16;-0.04;-2.64;0.65;0.63;0.47;-2.64	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96012|0.96012	0.8701|0.8701	M|M	0.86178|0.86178	2.8|2.8	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.997;0.986;0.986;0.992;1.0;1.0	.|D;D;P;P;P;P;D;D	.|0.85130	.|0.997;0.988;0.755;0.568;0.568;0.805;0.993;0.997	D|D	0.95987|0.95987	0.8982|0.8982	5|10	.|0.66056	.|D	.|0.02	-24.8899|-24.8899	19.7278|19.7278	0.96172|0.96172	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|153;354;256;202;251;303;362;413	.|E9PDG2;E7EQF4;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.|.;.;.;.;.;.;IF122_HUMAN;.	L|C	240;188|303;413;354;303;212;256;251;362;202;153	.|ENSP00000323973:R303C;ENSP00000296266:R413C;ENSP00000425536:R354C;ENSP00000410946:R212C;ENSP00000422179:R256C;ENSP00000324165:R251C;ENSP00000324005:R362C;ENSP00000401569:R153C	.|ENSP00000296266:R413C	P|R	+|+	2|1	0|0	IFT122|IFT122	130678271|130678271	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.950000|0.950000	0.60333|0.60333	7.440000|7.440000	0.80464|0.80464	2.656000|2.656000	0.90262|0.90262	0.591000|0.591000	0.81541|0.81541	CCG|CGC	IFT122-002	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000355851.1		+	ENST00000296266.3	Missense_Mutation	SNP	3 : 129195581 - 129195581 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	469	197
KCNA6	3742	broad.mit.edu	37	12	4920057	4920057	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:4920057G>A	ENST00000280684.3	+	1	1716	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	KCNA6_ENST00000433855.1_Missense_Mutation_p.A284T			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	284						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						GCGCTTCTCCGCCTGCCCTAG	0.542		NA								HNSCC(72;0.22)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													90	84	86			NA	NA	12		NA											NA				4920057		2203	4300	6503	SO:0001583	missense			X17622	CCDS8534.1	12p13	2014-06-12					3742	3742		Potassium channels, Voltage-gated ion channels / Potassium channels	6225	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 96	176257			NA	16382104	Standard	NM_002235	NM_002235	NA	Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.850G>A	12.37:g.4920057G>A	ENSP00000280684:p.Ala284Thr	NA		37	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102426	0.76983	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.99023	-5.34;-5.34	5.28	5.28	0.74379	Ion transport (1);	0.108992	0.64402	D	0.000010	D	0.96756	0.8941	N	0.21142	0.635	0.53688	D	0.999972	P	0.47910	0.902	B	0.43155	0.41	D	0.96581	0.9430	10	0.56958	D	0.05	.	13.4363	0.61086	0.0772:0.0:0.9228:0.0	.	284	P17658	KCNA6_HUMAN	T	284	ENSP00000408321:A284T;ENSP00000280684:A284T	ENSP00000280684:A284T	A	+	1	0	KCNA6	4790318	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.736000	0.84948	2.746000	0.94184	0.655000	0.94253	GCC	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000398909.1		+	ENST00000280684.3	Missense_Mutation	SNP	12 : 4920057 - 4920057 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	719	287
KCNT1	57582	broad.mit.edu	37	9	138641963	138641963	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr9:138641963G>A	ENST00000371757.2	+	3	341	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	KCNT1_ENST00000488444.2_Missense_Mutation_p.V73I|KCNT1_ENST00000487664.1_Missense_Mutation_p.V44I|KCNT1_ENST00000490355.2_Missense_Mutation_p.V73I|KCNT1_ENST00000486577.2_Missense_Mutation_p.V53I|KCNT1_ENST00000491806.2_Missense_Mutation_p.V59I|KCNT1_ENST00000298480.5_Missense_Mutation_p.V92I|KCNT1_ENST00000263604.3_Missense_Mutation_p.V73I	NM_020822.2	NP_065873.2	B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	92						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGAGTTCTACGTCAACGAGAA	0.607		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													82	68	73			NA	NA	9		NA											NA				138641963		2203	4300	6503	SO:0001583	missense			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147	57582	57582		Potassium channels, Voltage-gated ion channels / Potassium channels, calcium-activated	18865	protein-coding gene	gene with protein product		608167			NA	10718198, 16382103	Standard	NM_020822	NM_020822	NA	Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000371757.2:c.274G>A	9.37:g.138641963G>A	ENSP00000360822:p.Val92Ile	NA		37	CCDS35175.2	.	.	.	.	.	.	.	.	.	.	g	22.2	4.255822	0.80135	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T;T	0.50548	1.75;1.66;1.66;0.74;1.72	4.18	4.18	0.49190	.	0.000000	0.64402	D	0.000002	T	0.59622	0.2207	M	0.72353	2.195	0.80722	D	1	D;D	0.58268	0.97;0.982	P;P	0.53006	0.522;0.715	T	0.66630	-0.5875	10	0.59425	D	0.04	-9.5267	15.8483	0.78907	0.0:0.0:1.0:0.0	.	92;44	B9EGP2;G5E9V0	.;.	I	44;92;92;39;53;59;73;73;73	ENSP00000417851:V44I;ENSP00000298480:V92I;ENSP00000360822:V92I;ENSP00000420764:V39I;ENSP00000263604:V73I	ENSP00000263604:V73I	V	+	1	0	KCNT1	137781784	1.000000	0.71417	0.951000	0.38953	0.904000	0.53231	9.449000	0.97603	2.053000	0.61076	0.561000	0.74099	GTC	KCNT1-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000055021.2		+	ENST00000371757.2	Missense_Mutation	SNP	9 : 138641963 - 138641963 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	223	5
KLHL38	340359	broad.mit.edu	37	8	124664070	124664070	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr8:124664070C>T	ENST00000325995.7	-	1	1120	c.1097G>A	c.(1096-1098)gGg>gAg	p.G366E	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	366										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CATGGGCTCCCCCAGCCTCCA	0.572		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	65	64			NA	NA	8		NA											NA				124664070		2017	4186	6203	SO:0001583	missense				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946	340359	340359		Kelch-like, BTB/POZ domain containing	34435	protein-coding gene	gene with protein product			kelch-like 38 (Drosophila)		NA		Standard		NM_001081675	NA	Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.1097G>A	8.37:g.124664070C>T	ENSP00000321475:p.Gly366Glu	NA	A0PK12	37	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924416	0.52653	.	.	ENSG00000175946	ENST00000325995	T	0.67345	-0.26	5.18	4.3	0.51218	Kelch-type beta propeller (1);	0.153290	0.56097	D	0.000021	T	0.67411	0.2890	M	0.83012	2.62	0.33365	D	0.572771	B	0.17268	0.021	B	0.17098	0.017	T	0.72988	-0.4124	10	0.51188	T	0.08	.	10.1655	0.42877	0.1802:0.6871:0.1327:0.0	.	366	Q2WGJ6	KLH38_HUMAN	E	366	ENSP00000321475:G366E	ENSP00000321475:G366E	G	-	2	0	KLHL38	124733251	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	3.244000	0.51399	1.278000	0.44430	0.561000	0.74099	GGG	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000381288.1		-	ENST00000325995.7	Missense_Mutation	SNP	8 : 124664070 - 124664070 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	739	224
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:25398284C>A	ENST00000311936.3	-	2	226	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	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>T	12.37:g.25398284C>A	ENSP00000308495:p.Gly12Val	NA	A8K8Z5|B0LPF9|P01118|Q96D10	37	CCDS8702.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	128	46
MECP2	4204	broad.mit.edu	37	X	153296531	153296531	+	Missense_Mutation	SNP	G	G	A	rs61750225	byFrequency	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:153296531G>A	ENST00000303391.6	-	4	997	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	MECP2_ENST00000453960.2_Missense_Mutation_p.R262C|MECP2_ENST00000407218.1_3'UTR	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2	250					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCCGGGGCGTTTGATCACC	0.642		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0			GRCh37	CM023415	MECP2	M	rs141382970	G	CYS/ARG,CYS/ARG	0,3835		0,0,0,1632,571	68	70	70		784,748	5.5	1	X	dbSNP_134	70	1,6727		0,0,1,2428,1871	no	missense,missense	MECP2	NM_001110792.1,NM_004992.3	180,180	0,0,1,4060,2442	AA,AG,A,GG,G	NA	0.0149,0.0,0.0095	probably-damaging,probably-damaging	262/499,250/487	153296531	1,10562	2203	4300	6503	SO:0001583	missense			AF158180	CCDS14741.1, CCDS48193.1	Xq28	2014-09-17	2014-06-18		ENSG00000169057	ENSG00000169057	4204	4204			6990	protein-coding gene	gene with protein product		300005	mental retardation, X-linked 16, mental retardation, X-linked 79, Rett syndrome, methyl CpG binding protein 2 (Rett syndrome)	RTT, MRX16, MRX79	NA	1606614, 10508514	Standard	NM_004992	NM_004992	NA	Approved		uc004fjw.2	P51608	OTTHUMG00000024229	ENST00000303391.6:c.748C>T	X.37:g.153296531G>A	ENSP00000301948:p.Arg250Cys	NA	O15233|Q6QHH9|Q7Z384	37	CCDS14741.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305397	0.60305	0.0	1.49E-4	ENSG00000169057	ENST00000303391;ENST00000545451;ENST00000453960;ENST00000369964	D;D	0.93019	-3.13;-3.15	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.94089	0.8105	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.94482	0.7694	10	0.87932	D	0	-14.0476	12.1758	0.54184	0.0:0.0:0.8291:0.1709	.	262;250	P51608-2;P51608	.;MECP2_HUMAN	C	250;250;262;250	ENSP00000301948:R250C;ENSP00000395535:R262C	ENSP00000301948:R250C	R	-	1	0	MECP2	152949725	1.000000	0.71417	0.988000	0.46212	0.974000	0.67602	4.846000	0.62860	2.285000	0.76669	0.600000	0.82982	CGC	MECP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000061144.1		-	ENST00000303391.6	Missense_Mutation	SNP	X : 153296531 - 153296531 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	686	34
MST1	4485	broad.mit.edu	37	3	49723069	49723069	+	Silent	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:49723069G>A	ENST00000449682.2	-	11	1708	c.1347C>T	c.(1345-1347)gaC>gaT	p.D449D	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	435					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGGTCCTTGGGTCCATCGTGT	0.612		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA		GBM(110;181 1524 8005 22865 46297)							NA				0													37	37	37			NA	NA	3		NA											NA				49723069		2203	4298	6501	SO:0001819	synonymous_variant			M74178	CCDS33757.2	3p21	2008-09-05			ENSG00000173531	ENSG00000173531	4485	4485			7380	protein-coding gene	gene with protein product	hepatocyte growth factor-like protein homolog	142408		D3F15S2, HGFL, DNF15S2	NA	2902784, 8393443	Standard	NM_020998	NM_020998	NA	Approved	MSP, NF15S2	uc003cxg.3	P26927	OTTHUMG00000155918	ENST00000449682.2:c.1347C>T	3.37:g.49723069G>A		NA	A6NLA3|A8MSX3|Q13350|Q14870|Q6GTN4	37	CCDS33757.2																																																																																			MST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000342315.3		-	ENST00000449682.2	Silent	SNP	3 : 49723069 - 49723069 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	378	138
MST1R	4486	broad.mit.edu	37	3	49936017	49936017	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:49936017C>T	ENST00000296474.3	-	4	1680	c.1653G>A	c.(1651-1653)atG>atA	p.M551I	MST1R_ENST00000344206.4_Missense_Mutation_p.M551I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	551					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCTGGCCGCACATGTTCCCAC	0.602		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													72	71	71			NA	NA	3		NA											NA				49936017		2203	4300	6503	SO:0001583	missense			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078	4486	4486		CD molecules	7381	protein-coding gene	gene with protein product		600168	PTK8 protein tyrosine kinase 8	RON, PTK8	NA	8386824	Standard		NM_002447	NA	Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1653G>A	3.37:g.49936017C>T	ENSP00000296474:p.Met551Ile	NA	B5A944|B5A945|B5A946|B5A947	37	CCDS2807.1	.	.	.	.	.	.	.	.	.	.	C	6.278	0.419493	0.11928	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.40476	1.03;3.05	5.78	2.89	0.33648	.	0.728645	0.13917	N	0.353825	T	0.26122	0.0637	N	0.26042	0.785	0.23572	N	0.997382	B;B;B;B	0.19817	0.039;0.012;0.004;0.003	B;B;B;B	0.14023	0.009;0.01;0.007;0.001	T	0.13335	-1.0513	10	0.54805	T	0.06	-3.2634	3.9856	0.09514	0.1046:0.5013:0.2391:0.155	.	445;551;551;551	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	I	551	ENSP00000296474:M551I;ENSP00000341325:M551I	ENSP00000296474:M551I	M	-	3	0	MST1R	49911021	0.000000	0.05858	0.890000	0.34922	0.746000	0.42486	-0.224000	0.09164	1.452000	0.47756	0.491000	0.48974	ATG	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000345403.1		-	ENST00000296474.3	Missense_Mutation	SNP	3 : 49936017 - 49936017 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	602	230
NTRK3	4916	broad.mit.edu	37	15	88483870	88483870	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr15:88483870A>G	ENST00000542733.2	-	13	1565	c.1406T>C	c.(1405-1407)aTg>aCg	p.M469T	NTRK3_ENST00000557856.1_Missense_Mutation_p.M559T|NTRK3_ENST00000394480.2_Missense_Mutation_p.M567T|NTRK3_ENST00000558676.1_Missense_Mutation_p.M559T|NTRK3_ENST00000355254.2_Missense_Mutation_p.M567T|NTRK3_ENST00000360948.2_Missense_Mutation_p.M567T|NTRK3_ENST00000357724.2_Missense_Mutation_p.M559T			Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	567					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCACAAGCATCTTGTCCTT	0.592		NA	T	ETV6	congenital fibrosarcoma, Secretory breast 					TSP Lung(13;0.10)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA				Dom	yes		15	15q25	4916	neurotrophic tyrosine kinase, receptor, type 3		E, M	0													125	104	111			NA	NA	15		NA											NA				88483870		2201	4299	6500	SO:0001583	missense			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	4916	4916	2.7.10.1	Immunoglobulin superfamily / I-set domain containing	8033	protein-coding gene	gene with protein product		191316			NA	7806211	Standard		NM_001012338	NA	Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000542733.2:c.1406T>C	15.37:g.88483870A>G	ENSP00000437773:p.Met469Thr	NA	O75682|Q12827|Q16289	37		.	.	.	.	.	.	.	.	.	.	A	15.52	2.858456	0.51376	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000343782	D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35	5.29	5.29	0.74685	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74458	0.3719	N	0.01473	-0.845	0.80722	D	1	B;B;B;B;B	0.33919	0.253;0.432;0.236;0.213;0.115	B;B;B;B;B	0.41466	0.208;0.358;0.241;0.14;0.115	T	0.75584	-0.3267	10	0.02654	T	1	.	14.3918	0.66983	1.0:0.0:0.0:0.0	.	469;559;559;567;567	B7Z7U4;E9PG56;B7Z4C5;Q16288-3;Q16288	.;.;.;.;NTRK3_HUMAN	T	567;567;559;567;469;63	ENSP00000377990:M567T;ENSP00000354207:M567T;ENSP00000350356:M559T;ENSP00000347397:M567T;ENSP00000437773:M469T	ENSP00000342792:M63T	M	-	2	0	NTRK3	86284874	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.020000	0.93667	2.004000	0.58718	0.533000	0.62120	ATG	NTRK3-003	NOVEL	basic|exp_conf	protein_coding	NA	protein_coding	OTTHUMT00000415277.1		-	ENST00000542733.2	Missense_Mutation	SNP	15 : 88483870 - 88483870 G PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	506	234
PCDH15	65217	broad.mit.edu	37	10	55616938	55616938	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr10:55616938G>T	ENST00000373965.2	-	29	4218	c.3824C>A	c.(3823-3825)aCa>aAa	p.T1275K	PCDH15_ENST00000414778.1_Missense_Mutation_p.T1273K|PCDH15_ENST00000395445.1_Missense_Mutation_p.T1275K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.T1268K|PCDH15_ENST00000395438.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1268K|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1246K|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1268K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.T879K|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1197K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1231K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1268					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAATTACTCTGTAAGATCTTC	0.313		NA								HNSCC(58;0.16)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													56	56	56			NA	NA	10		NA											NA				55616938		2203	4297	6500	SO:0001583	missense			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275	65217	65217		Cadherins / Cadherin-related	14674	protein-coding gene	gene with protein product	cadherin-related family member 15	605514	deafness, autosomal recessive 23, protocadherin 15	USH1F, DFNB23	NA	11398101, 14570705	Standard	NM_033056	NM_033056	NA	Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.3824C>A	10.37:g.55616938G>T	ENSP00000363076:p.Thr1275Lys	NA	A6NL19|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.210653	0.79240	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.57273	0.5;0.55;0.49;0.48;0.46;0.44;0.42;0.46;0.44;0.42;0.41	5.17	4.26	0.50523	.	.	.	.	.	T	0.42108	0.1188	N	0.14661	0.345	0.33977	D	0.647511	D;D;D;P;D;D;D;P;P;P;P;P;D	0.54397	0.966;0.959;0.959;0.932;0.958;0.959;0.966;0.59;0.926;0.926;0.814;0.729;0.959	P;P;B;B;P;P;P;B;B;B;B;B;B	0.53035	0.716;0.544;0.424;0.326;0.69;0.544;0.716;0.315;0.424;0.424;0.315;0.315;0.424	T	0.51505	-0.8697	9	0.42905	T	0.14	.	5.2011	0.15264	0.2905:0.0:0.7095:0.0	.	1246;1268;1268;1273;1197;1231;1268;1268;1275;1275;1268;1273;1268	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	K	1275;1273;1268;1268;879;1275;1231;1268;1246;1268;1268;1273;1197	ENSP00000363076:T1275K;ENSP00000410304:T1273K;ENSP00000378826:T1268K;ENSP00000386693:T879K;ENSP00000378832:T1275K;ENSP00000378820:T1231K;ENSP00000354950:T1268K;ENSP00000378821:T1246K;ENSP00000322604:T1268K;ENSP00000378818:T1268K;ENSP00000412628:T1197K	ENSP00000322604:T1268K	T	-	2	0	PCDH15	55286944	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.204000	0.77872	2.418000	0.82041	0.655000	0.94253	ACA	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	NA	protein_coding	OTTHUMT00000291336.1		-	ENST00000373965.2	Missense_Mutation	SNP	10 : 55616938 - 55616938 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	205	104
QSER1	79832	broad.mit.edu	37	11	32955744	32955744	+	Silent	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr11:32955744A>G	ENST00000399302.2	+	4	2888	c.2553A>G	c.(2551-2553)gtA>gtG	p.V851V	QSER1_ENST00000527788.1_Silent_p.V612V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	851										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TATCAAATGTAGATGATATCT	0.383		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													96	93	94			NA	NA	11		NA											NA				32955744		1887	4099	5986	SO:0001819	synonymous_variant			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749	79832	79832			26154	protein-coding gene	gene with protein product					NA		Standard	NM_024774	XM_006718323	NA	Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2553A>G	11.37:g.32955744A>G		NA	Q6ZU30|Q6ZUR5	37	CCDS41631.1																																																																																			QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000388448.1		+	ENST00000399302.2	Silent	SNP	11 : 32955744 - 32955744 G PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	966	471
SATB1	6304	broad.mit.edu	37	3	18462359	18462359	+	Missense_Mutation	SNP	T	T	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr3:18462359T>G	ENST00000417717.2	-	2	1071	c.101A>C	c.(100-102)gAg>gCg	p.E34A	SATB1_ENST00000454909.2_Missense_Mutation_p.E34A|SATB1_ENST00000338745.6_Missense_Mutation_p.E34A|SATB1_ENST00000493952.2_Missense_Mutation_p.E34A|TBC1D5_ENST00000414318.2_Intron	NM_001195470.1	NP_001182399.1	Q01826	SATB1_HUMAN	SATB homeobox 1	34					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCGTTCTGCTCCAGGCGGGC	0.507		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													135	139	138			NA	NA	3		NA											NA				18462359		2203	4300	6503	SO:0001583	missense				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568	6304	6304		Homeoboxes / CUT class	10541	protein-coding gene	gene with protein product		602075	special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)		NA	1505028	Standard	NM_001131010	NM_002971	NA	Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000417717.2:c.101A>C	3.37:g.18462359T>G	ENSP00000399518:p.Glu34Ala	NA	B3KXF1|C9JTR6|Q59EQ0	37	CCDS56242.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.796438	0.90453	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717;ENST00000440737;ENST00000452260;ENST00000415069;ENST00000457005;ENST00000414509;ENST00000444341	T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69142	0.962;0.955	T	0.73616	-0.3926	10	0.87932	D	0	-13.3153	16.2147	0.82198	0.0:0.0:0.0:1.0	.	34;34	Q01826-2;Q01826	.;SATB1_HUMAN	A	34	ENSP00000341024:E34A;ENSP00000399708:E34A;ENSP00000399518:E34A;ENSP00000402982:E34A;ENSP00000406727:E34A;ENSP00000390529:E34A;ENSP00000398072:E34A;ENSP00000408871:E34A;ENSP00000391344:E34A	ENSP00000341024:E34A	E	-	2	0	SATB1	18437363	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.698000	0.84413	2.231000	0.72958	0.460000	0.39030	GAG	SATB1-004	KNOWN	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000339360.2		-	ENST00000417717.2	Missense_Mutation	SNP	3 : 18462359 - 18462359 G PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	951	401
SOX5	6660	broad.mit.edu	37	12	24048945	24048945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:24048945G>A	ENST00000546136.1	-	1	15	c.13C>T	c.(13-15)Cga>Tga	p.R5*	SOX5_ENST00000541847.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000309359.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000545921.1_Nonsense_Mutation_p.R8*|SOX5_ENST00000441133.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000451604.2_Nonsense_Mutation_p.R18*|SOX5_ENST00000541536.1_Nonsense_Mutation_p.R5*|SOX5_ENST00000537393.1_Nonsense_Mutation_p.R18*|SOX5_ENST00000381381.2_Nonsense_Mutation_p.R5*			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	18					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GAGGCTGGTCGCTTGGAAGAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													119	116	117			NA	NA	12		NA											NA				24048945		2203	4300	6503	SO:0001587	stop_gained			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532	6660	6660		SRY (sex determining region Y)-boxes	11201	protein-coding gene	gene with protein product		604975			NA	8812465	Standard	NM_006940	NM_006940	NA	Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000546136.1:c.13C>T	12.37:g.24048945G>A	ENSP00000437487:p.Arg5*	NA	Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	37	CCDS44844.1	.	.	.	.	.	.	.	.	.	.	G	40	8.211190	0.98706	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000441133;ENST00000538083	.	.	.	5.88	5.88	0.94601	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	.	.	.	X	5;5;5;18;5;18;5;8;8;18;5	.	ENSP00000308927:R5X	R	-	1	2	SOX5	23940212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.069000	0.93967	2.792000	0.96026	0.557000	0.71058	CGA	SOX5-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000402005.2		-	ENST00000546136.1	Nonsense_Mutation	SNP	12 : 24048945 - 24048945 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	876	403
SPANXD	64648	broad.mit.edu	37	X	140785784	140785784	+	Silent	SNP	T	T	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chrX:140785784T>A	ENST00000370515.3	-	2	465	c.132A>T	c.(130-132)acA>acT	p.T44T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D	NA										breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AGGACTCAGATGTTTTTAGTT	0.478		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													260	180	207			NA	NA	X		NA											NA				140785784		2199	4274	6473	SO:0001819	synonymous_variant			AJ457791	CCDS14675.1	Xq27.2	2014-06-19			ENSG00000196406	ENSG00000196406	64648	64648			14332	protein-coding gene	gene with protein product	cancer/testis antigen family 11, member 4	300670, 300671	SPANX family, member E	SPANXE	NA		Standard		NM_032417	NA	Approved	CT11.4		Q9BXN6	OTTHUMG00000022563	ENST00000370515.3:c.132A>T	X.37:g.140785784T>A		NA		37	CCDS14675.1																																																																																			SPANXD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000058598.1		-	ENST00000370515.3	Silent	SNP	X : 140785784 - 140785784 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	1116	27
SPATA17	128153	broad.mit.edu	37	1	217947827	217947827	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:217947827G>A	ENST00000366933.4	+	7	726	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	224						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACAAGCGCCCGTTCTTTTCCT	0.403		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0								G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73	70	71		671	1.4	0.1	1		71	0,8600		0,0,4300	no	missense	SPATA17	NM_138796.2	29	0,1,6502	AA,AG,GG	NA	0.0,0.0227,0.0077	benign	224/362	217947827	1,13005	2203	4300	6503	SO:0001583	missense			AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814	128153	128153			25184	protein-coding gene	gene with protein product	IQ motif containing H	611032			NA	16395525	Standard	NM_138796	NM_138796	NA	Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.671G>A	1.37:g.217947827G>A	ENSP00000355900:p.Arg224His	NA		37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	9.603	1.129341	0.21041	2.27E-4	0.0	ENSG00000162814	ENST00000366933	T	0.46451	0.87	5.45	1.39	0.22231	.	0.436237	0.24820	N	0.035323	T	0.20618	0.0496	N	0.25890	0.77	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.10177	-1.0641	10	0.15499	T	0.54	-12.9268	1.6448	0.02759	0.3165:0.1634:0.4025:0.1176	.	224	Q96L03	SPT17_HUMAN	H	224	ENSP00000355900:R224H	ENSP00000355900:R224H	R	+	2	0	SPATA17	216014450	0.000000	0.05858	0.053000	0.19242	0.387000	0.30353	-0.047000	0.11963	0.339000	0.23719	0.563000	0.77884	CGT	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000092433.2		+	ENST00000366933.4	Missense_Mutation	SNP	1 : 217947827 - 217947827 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	374	157
SPDYE3	441272	broad.mit.edu	37	7	99912180	99912180	+	Silent	SNP	G	G	A	rs858635		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr7:99912180G>A	ENST00000332397.6	+	6	1192	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	SPDYE3_ENST00000437326.2_5'UTR	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	336								p.P336P(10)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						CCAGCCCCCCGCGTAGGTCCC	0.577		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				10	Substitution - coding silent(10)	endometrium(8)|kidney(2)											NA	NA	NA			NA	NA			NA											NA				NA		NA	NA	NA	SO:0001819	synonymous_variant			BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300	441272	441272		Speedy homologs	35462	protein-coding gene	gene with protein product			speedy homolog E3 (Xenopus laevis)		NA		Standard	NM_001004351	NM_001004351	NA	Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1008G>A	7.37:g.99912180G>A		NA	Q495Y9|Q6PHC4	37	CCDS47658.2																																																																																			SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000340224.2		+	ENST00000332397.6	Silent	SNP	7 : 99912180 - 99912180 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	371	7
SYNE1	23345	broad.mit.edu	37	6	152749494	152749494	+	Missense_Mutation	SNP	C	C	T	rs138617999	byFrequency	TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr6:152749494C>T	ENST00000367255.5	-	37	5423	c.4822G>A	c.(4822-4824)Gcg>Acg	p.A1608T	SYNE1_ENST00000367253.4_Missense_Mutation_p.A1608T|SYNE1_ENST00000448038.1_Missense_Mutation_p.A1615T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A1678T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A1615T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A1608T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1608					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCAGTGATCGCGCTGCTCAGT	0.537		NA								HNSCC(10;0.0054)			C	2	9e-04	NA	NA	2184	NA	1	,	,	NA	3e-04	0.0026	NA	NA	9e-04	0.9756	EXOME	NA	NA	5e-04	SNP								NA				0								C	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	72	71	71		4843,4822	-1.3	0	6	dbSNP_134	71	14,8586	10.5+/-38.8	0,14,4286	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	58,58	0,16,6487	TT,TC,CC	NA	0.1628,0.0454,0.123	benign,benign	1615/8750,1608/8798	152749494	16,12990	2203	4300	6503	SO:0001583	missense			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018	23345	23345			17089	protein-coding gene	gene with protein product	myocyte nuclear envelope protein 1, nuclear envelope spectrin repeat-1	608441	chromosome 6 open reading frame 98	C6orf98	NA	9872452, 10878022	Standard	NM_182961	NM_182961	NA	Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4822G>A	6.37:g.152749494C>T	ENSP00000356224:p.Ala1608Thr	NA	O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	37	CCDS5236.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	10.50	1.367421	0.24771	4.54E-4	0.001628	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.6	-1.26	0.09376	.	0.776537	0.11457	N	0.562214	T	0.02533	0.0077	N	0.00368	-1.59	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.001	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.001	T	0.36456	-0.9747	10	0.12766	T	0.61	.	1.0993	0.01680	0.2093:0.1854:0.113:0.4924	.	1591;1608;1608;1608;1615	B3W695;Q8NF91;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	T	1608;1615;1608;1615;1678;1608	ENSP00000356224:A1608T;ENSP00000396024:A1615T;ENSP00000265368:A1608T;ENSP00000390975:A1615T;ENSP00000341887:A1678T;ENSP00000356222:A1608T	ENSP00000265368:A1608T	A	-	1	0	SYNE1	152791187	0.108000	0.22018	0.000000	0.03702	0.000000	0.00434	0.318000	0.19504	-0.424000	0.07382	-1.145000	0.01858	GCG	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000334755.2		-	ENST00000367255.5	Missense_Mutation	SNP	6 : 152749494 - 152749494 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	504	261
TMEM132D	121256	broad.mit.edu	37	12	130184677	130184677	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr12:130184677C>T	ENST00000422113.2	-	2	972	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	216						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGCTGGTCCACGGACTTCCTC	0.692		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													33	36	35			NA	NA	12		NA											NA				130184677		2203	4300	6503	SO:0001583	missense			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952	121256	121256			29411	protein-coding gene	gene with protein product	protein phosphatase 1, regulatory subunit 153	611257			NA	11853319, 12966072	Standard	NM_133448	NM_133448	NA	Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.646G>A	12.37:g.130184677C>T	ENSP00000408581:p.Val216Met	NA	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	3.487	-0.104728	0.06967	.	.	ENSG00000151952	ENST00000422113	T	0.12039	2.72	5.35	-1.38	0.09027	.	1.295410	0.05175	N	0.500234	T	0.04815	0.0130	N	0.01482	-0.84	0.09310	N	1	B	0.21225	0.053	B	0.09377	0.004	T	0.39461	-0.9613	9	.	.	.	-2.439	9.4725	0.38851	0.0:0.1393:0.6062:0.2545	.	216	Q14C87	T132D_HUMAN	M	216	ENSP00000408581:V216M	.	V	-	1	0	TMEM132D	128750630	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.785000	0.04628	0.059000	0.16252	0.650000	0.86243	GTG	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000399592.1		-	ENST00000422113.2	Missense_Mutation	SNP	12 : 130184677 - 130184677 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	338	140
TMEM198	130612	broad.mit.edu	37	2	220414568	220414568	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:220414568C>T	ENST00000344458.2	+	6	1660	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	TMEM198_ENST00000373883.3_Missense_Mutation_p.R359W			Q66K66	TM198_HUMAN	transmembrane protein 198	359						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCCCCAGTGCGGGTATAGCC	0.622		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													49	55	53			NA	NA	2		NA											NA				220414568		2203	4300	6503	SO:0001583	missense			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760	130612	130612			33704	protein-coding gene	gene with protein product					NA		Standard	NM_001005209	NM_001005209	NA	Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.1075C>T	2.37:g.220414568C>T	ENSP00000343507:p.Arg359Trp	NA		37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757344	0.69648	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.1	5.1	0.69264	.	0.070539	0.56097	D	0.000030	T	0.34978	0.0916	N	0.14661	0.345	0.53005	D	0.999966	B	0.33022	0.394	B	0.25291	0.059	T	0.37267	-0.9713	9	0.87932	D	0	-11.0301	14.7067	0.69198	0.1454:0.8546:0.0:0.0	.	359	Q66K66	TM198_HUMAN	W	359	.	ENSP00000343507:R359W	R	+	1	2	TMEM198	220122812	1.000000	0.71417	1.000000	0.80357	0.744000	0.42396	2.741000	0.47426	2.824000	0.97209	0.655000	0.94253	CGG	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000131063.1		+	ENST00000344458.2	Missense_Mutation	SNP	2 : 220414568 - 220414568 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	703	217
TOX2	84969	broad.mit.edu	37	20	42635419	42635419	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr20:42635419G>T	ENST00000358131.5	+	3	633	c.425G>T	c.(424-426)gGc>gTc	p.G142V	TOX2_ENST00000341197.4_Missense_Mutation_p.G133V|TOX2_ENST00000423191.2_Missense_Mutation_p.G91V|TOX2_ENST00000372999.1_Missense_Mutation_p.G91V	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CTGCTGTCGGGCCAGCTGCCC	0.587		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													54	42	46			NA	NA	20		NA											NA				42635419		2203	4300	6503	SO:0001583	missense			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20			84969	84969			16095	protein-coding gene	gene with protein product	granulosa cell HMG box 1	611163	chromosome 20 open reading frame 100	C20orf100	NA	14764631	Standard		NM_001098796	NA	Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.425G>T	20.37:g.42635419G>T	ENSP00000350849:p.Gly142Val	NA	Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	37	CCDS42875.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.391733	0.42410	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	5.61	5.61	0.85477	.	0.440984	0.25575	N	0.029739	T	0.19805	0.0476	L	0.29908	0.895	0.80722	D	1	P;B;B;B	0.39480	0.675;0.151;0.058;0.115	B;B;B;B	0.41988	0.372;0.045;0.022;0.033	T	0.01476	-1.1345	10	0.40728	T	0.16	.	13.8806	0.63680	0.0:0.1528:0.8472:0.0	.	133;91;142;91	G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;TOX2_HUMAN;.	V	133;91;91;91;142	ENSP00000344724:G133V;ENSP00000396584:G91V;ENSP00000390278:G91V;ENSP00000362090:G91V;ENSP00000350849:G142V	ENSP00000344724:G133V	G	+	2	0	TOX2	42068833	0.999000	0.42202	0.981000	0.43875	0.998000	0.95712	4.475000	0.60210	2.631000	0.89168	0.655000	0.94253	GGC	TOX2-001	KNOWN	basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000079329.2		+	ENST00000358131.5	Missense_Mutation	SNP	20 : 42635419 - 42635419 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	205	61
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65	56	59			NA	NA	17		NA											NA				7577121		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.817C>T	17.37:g.7577121G>A	ENSP00000391127:p.Arg273Cys	NA	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	37	CCDS45606.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT	TP53-005	KNOWN	NMD_exception|basic|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000367401.1		-	ENST00000420246.2	Missense_Mutation	SNP	17 : 7577121 - 7577121 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	168	91
TRIOBP	11078	broad.mit.edu	37	22	38119251	38119251	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:38119251G>A	ENST00000406386.3	+	7	943	c.688G>A	c.(688-690)Ggg>Agg	p.G230R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	230					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GGGAGAAAGCGGGTTGTCCCT	0.647		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													30	35	33			NA	NA	22		NA											NA				38119251		2053	4177	6230	SO:0001583	missense			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106	11078	11078		Pleckstrin homology (PH) domain containing	17009	protein-coding gene	gene with protein product		609761		DFNB28	NA	11148140, 16385457, 16385458	Standard		NM_001039141	NA	Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.688G>A	22.37:g.38119251G>A	ENSP00000384312:p.Gly230Arg	NA	B1AHD4|B1AHD7|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	8.003	0.755843	0.15846	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.29917	1.55	4.74	1.45	0.22620	.	.	.	.	.	T	0.16085	0.0387	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.21109	-1.0255	9	0.66056	D	0.02	.	4.2708	0.10785	0.2696:0.0:0.5734:0.157	.	230	Q9H2D6	TARA_HUMAN	R	230	ENSP00000384312:G230R	ENSP00000384312:G230R	G	+	1	0	TRIOBP	36449197	0.006000	0.16342	0.021000	0.16686	0.137000	0.21094	0.354000	0.20146	0.456000	0.26937	-0.381000	0.06696	GGG	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319439.2		+	ENST00000406386.3	Missense_Mutation	SNP	22 : 38119251 - 38119251 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	269	81
TTN	7273	broad.mit.edu	37	2	179655562	179655562	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:179655562T>C	ENST00000589042.1	-	11	1897	c.1673A>G	c.(1672-1674)gAa>gGa	p.E558G	TTN_ENST00000342992.6_Missense_Mutation_p.E558G|TTN_ENST00000360870.5_Missense_Mutation_p.E558G|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E558G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	558							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCTCAGTTTCCTGTCTTAT	0.393		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													155	143	147			NA	NA	2		NA											NA				179655562		2203	4300	6503	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.1673A>G	2.37:g.179655562T>C	ENSP00000467141:p.Glu558Gly	NA	E7ET18	37	CCDS59435.1	.	.	.	.	.	.	.	.	.	.	T	12.33	1.904601	0.33628	.	.	ENSG00000155657	ENST00000342992;ENST00000360870	T;T	0.79247	-1.25;-1.25	5.07	3.89	0.44902	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.67316	0.2880	N	0.24115	0.695	0.80722	D	1	B;B	0.34329	0.099;0.449	B;B	0.37091	0.112;0.241	T	0.68450	-0.5405	9	0.87932	D	0	.	12.0991	0.53772	0.0:0.0:0.1438:0.8562	.	558;558	Q8WZ42;Q8WZ42-6	TITIN_HUMAN;.	G	558	ENSP00000343764:E558G;ENSP00000354117:E558G	ENSP00000343764:E558G	E	-	2	0	TTN	179363807	0.995000	0.38212	1.000000	0.80357	0.927000	0.56198	2.570000	0.45981	0.921000	0.36994	0.533000	0.62120	GAA	TTN-018	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000450680.2		-	ENST00000589042.1	Missense_Mutation	SNP	2 : 179655562 - 179655562 C PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	612	236
UNC50	25972	broad.mit.edu	37	2	99226308	99226308	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr2:99226308C>T	ENST00000409975.1	+	1	1267	c.137C>T	c.(136-138)gCg>gTg	p.A46V	UNC50_ENST00000357765.2_Missense_Mutation_p.A29V|UNC50_ENST00000409347.1_Missense_Mutation_p.A46V			Q53HI1	UNC50_HUMAN	unc-50 homolog (C. elegans)	29					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						ACAGCCGGAGCGAAACGCTAC	0.493		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													163	163	163			NA	NA	2		NA											NA				99226308		2203	4300	6503	SO:0001583	missense				CCDS2035.1	2q12.2	2008-02-05			ENSG00000115446	ENSG00000115446	25972	25972			16046	protein-coding gene	gene with protein product					NA	10980252	Standard	NM_014044	NM_014044	NA	Approved	URP, UNCL, GMH1	uc002szc.4	Q53HI1	OTTHUMG00000130562	ENST00000409975.1:c.137C>T	2.37:g.99226308C>T	ENSP00000387146:p.Ala46Val	NA	D3DVH4|Q53S98|Q53TD6|Q5U5U2|Q6X7B9|Q9UQF4|Q9Y4S6	37		.	.	.	.	.	.	.	.	.	.	C	27.2	4.810691	0.90707	.	.	ENSG00000115446	ENST00000357765;ENST00000409975;ENST00000409347	.	.	.	5.06	5.06	0.68205	.	0.153865	0.56097	D	0.000026	T	0.70727	0.3257	L	0.58810	1.83	0.80722	D	1	D	0.67145	0.996	P	0.55345	0.774	T	0.69551	-0.5115	9	0.35671	T	0.21	-29.8512	17.7675	0.88482	0.0:1.0:0.0:0.0	.	29	Q53HI1	UNC50_HUMAN	V	29;46;46	.	ENSP00000350409:A29V	A	+	2	0	UNC50	98592740	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	5.595000	0.67563	2.505000	0.84491	0.591000	0.81541	GCG	UNC50-002	KNOWN	basic	protein_coding	NA	protein_coding	OTTHUMT00000329560.1		+	ENST00000409975.1	Missense_Mutation	SNP	2 : 99226308 - 99226308 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	1537	515
USH2A	7399	broad.mit.edu	37	1	215960150	215960150	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr1:215960150C>T	ENST00000307340.3	-	52	10635	c.10249G>A	c.(10249-10251)Gac>Aac	p.D3417N	USH2A_ENST00000366943.2_Missense_Mutation_p.D3417N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3417	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGTTGAAGTCACACCTGCCA	0.493		NA								HNSCC(13;0.011)				NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													65	59	61			NA	NA	1		NA											NA				215960150		2203	4300	6503	SO:0001583	missense			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781	7399	7399		Fibronectin type III domain containing	12601	protein-coding gene	gene with protein product	usherin	608400		USH2	NA	9624053, 10729113	Standard	NM_007123	NM_007123	NA	Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10249G>A	1.37:g.215960150C>T	ENSP00000305941:p.Asp3417Asn	NA	Q5VVM9|Q6S362|Q9NS27	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223870	0.58668	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.16897	2.33;2.31	4.88	3.96	0.45880	Fibronectin, type III (3);	0.000000	0.47455	D	0.000226	T	0.20007	0.0481	M	0.69823	2.125	0.43637	D	0.996032	B	0.19200	0.034	B	0.16722	0.016	T	0.03453	-1.1035	10	0.39692	T	0.17	.	10.8728	0.46894	0.0:0.9128:0.0:0.0872	.	3417	O75445	USH2A_HUMAN	N	3417	ENSP00000305941:D3417N;ENSP00000355910:D3417N	ENSP00000305941:D3417N	D	-	1	0	USH2A	214026773	1.000000	0.71417	0.997000	0.53966	0.930000	0.56654	1.227000	0.32576	2.225000	0.72522	0.655000	0.94253	GAC	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000128138.1		-	ENST00000307340.3	Missense_Mutation	SNP	1 : 215960150 - 215960150 T PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	291	65
ZNF354A	6940	broad.mit.edu	37	5	178139093	178139093	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr5:178139093G>A	ENST00000335815.2	-	5	1983	c.1786C>T	c.(1786-1788)Cat>Tat	p.H596Y		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	596					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATTTTATAATGATTAGTAAGG	0.373		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													63	67	66			NA	NA	5		NA											NA				178139093		2202	4300	6502	SO:0001583	missense			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131	6940	6940		Zinc fingers, C2H2-type, -	11628	protein-coding gene	gene with protein product		602444		TCF17	NA	9465904	Standard	NM_005649	NM_005649	NA	Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1786C>T	5.37:g.178139093G>A	ENSP00000337122:p.His596Tyr	NA	Q9UNJ8	37	CCDS4438.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183252	0.21870	.	.	ENSG00000169131	ENST00000335815	D	0.96168	-3.93	4.47	4.47	0.54385	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.97996	0.9340	M	0.93420	3.415	0.42876	D	0.994154	D	0.76494	0.999	D	0.63703	0.917	D	0.99133	1.0853	9	0.87932	D	0	-12.4023	14.9914	0.71390	0.0:0.0:1.0:0.0	.	596	O60765	Z354A_HUMAN	Y	596	ENSP00000337122:H596Y	ENSP00000337122:H596Y	H	-	1	0	ZNF354A	178071699	.	.	0.998000	0.56505	0.200000	0.23975	.	.	2.477000	0.83638	0.655000	0.94253	CAT	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000253481.1		-	ENST00000335815.2	Missense_Mutation	SNP	5 : 178139093 - 178139093 A PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	270	145
ZNF74	7625	broad.mit.edu	37	22	20760941	20760941	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-A545-01A-11D-A26I-08	TCGA-FB-A545-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	NA	WXS	none	NA	NA	Illumina HiSeq	b6a5fc11-2047-4c23-b325-4cd21131fdf6	01505e81-dfca-433f-80ac-458881d3d217	g.chr22:20760941A>G	ENST00000403682.3	+	0	2033				ZNF74_ENST00000400451.2_Missense_Mutation_p.N540D|ZNF74_ENST00000405993.1_Missense_Mutation_p.N508D|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000356671.5_Missense_Mutation_p.N540D	NM_001256523.1	NP_001243452.1	Q16587	ZNF74_HUMAN	zinc finger protein 74	NA					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTTCAGCCAGAACCACTGTCT	0.547		NA												NA	NA	NA	NA	NA	NA	NA			NA	NA	NA	NA	NA	NA	NA		NA	NA	NA									NA				0													70	79	76			NA	NA	22		NA											NA				20760941		2203	4300	6503	SO:0001624	3_prime_UTR_variant			X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252	7625	7625		Zinc fingers, C2H2-type, -	13144	protein-coding gene	gene with protein product		194548	zinc finger protein 74 (Cos52)		NA	1639391, 10591208	Standard	NM_003426	NM_003426	NA	Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000403682.3:c.*995A>G	22.37:g.20760941A>G		NA	B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	37	CCDS58794.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.343858	0.61073	.	.	ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993	T;T;T	0.28255	1.62;1.62;1.62	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43747	D	0.000526	T	0.25306	0.0615	N	0.17564	0.495	0.21579	N	0.999635	D	0.58268	0.982	P	0.52554	0.702	T	0.05037	-1.0910	10	0.36615	T	0.2	-40.4338	7.9518	0.30019	0.7914:0.2086:0.0:0.0	.	540	Q16587	ZNF74_HUMAN	D	540;540;508	ENSP00000383301:N540D;ENSP00000349098:N540D;ENSP00000385855:N508D	ENSP00000349098:N540D	N	+	1	0	ZNF74	19090941	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	0.322000	0.19576	2.097000	0.63578	0.533000	0.62120	AAC	ZNF74-002	NOVEL	basic|exp_conf|CCDS	protein_coding	NA	protein_coding	OTTHUMT00000319645.2		+	ENST00000403682.3	3'UTR	SNP	22 : 20760941 - 20760941 G PAAD-TCGA-FB-A545-Tumor-SM-47KKQ	429	202
