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	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_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	ACHILLES_Lineage_Results_Top_Genes	CGC_CancerGermlineMut	CGC_CancerMolecularGenetics	CGC_CancerSomaticMut	CGC_CancerSyndrome	CGC_Chr	CGC_ChrBand	CGC_GeneID	CGC_Name	CGC_OtherGermlineMut	CGC_TissueType	COSMIC_n_overlapping_mutations	COSMIC_overlapping_mutation_descriptions	ClinVar_ASSEMBLY	ClinVar_HGMD_ID	ClinVar_SYM	ClinVar_TYPE	ClinVar_rs	Ensembl_so_accession	Ensembl_so_term	Familial_Cancer_Genes_Reference	Familial_Cancer_Genes_Synonym	annotation_transcript	bcgsc	broad	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_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	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	entrez_gene_id	external_id_capture	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	hgsc	igv_bad	ucsc	t_alt_count	t_ref_count	n_alt_count	n_ref_count	validation_judgement_rna	validation_power_rna	validation_tumor_alt_count_rna	validation_tumor_ref_count_rna	validation_normal_alt_count_rna	validation_normal_ref_count_rna	min_val_count_rna	validation_judgement_targeted	validation_power_targeted	validation_tumor_alt_count_targeted	validation_tumor_ref_count_targeted	validation_normal_alt_count_targeted	validation_normal_ref_count_targeted	min_val_count_targeted	validation_judgement_localAssembly	validation_power_localAssembly	t_alt_count_localAssembly	t_ref_count_localAssembly	n_alt_count_localAssembly	n_ref_count_localAssembly	min_val_count_localAssembly	validation_judgement_KRAS	validation_power_KRAS	t_alt_count_KRAS	t_ref_count_KRAS	n_alt_count_KRAS	n_ref_count_KRAS	min_val_count_KRAS	pon_loglike	pon_pass_loglike	localAssembly_detected	ExAC_AN	ExAC_AC	ExAC_LQ	passExAC	SCNA_NA	SCNA_NB	SCNA_q_hat	SCNA_tau	IS_SCNA	purity	ploidy	dna_fraction_in_tumor	CCF_hat	CCF_CI95_low	CCF_CI95_high	CCF_mode	CCF_mean	CCF_median	clonal	CCF_CI_low	CCF_CI_high
FAM8A1	51439	broad.mit.edu	37	6	17605243	17605248	+	In_Frame_Del	DEL	TTAGTT	TTAGTT	-	rs143076391	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			TTAGTT	-	TTAGTT	TTAGTT		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:17605243_17605248delTTAGTT	ENST00000259963.3	+	3	995_1000	c.940_945delTTAGTT	c.(940-945)ttagttdel	p.LV314del		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1			6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)		ATACAGATTATTAGTTTGTTTCTATG	0.301000																								0							SO:0001651	inframe_deletion			ENST00000259963.3	1	1	hg19	CCDS4540.1																																																																																				TCGA-IB-7644-01A-11D-2154-08	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1	1	0	0	61	309	0	32	1	9.995998e-01	8	53	0	32	2	0	0	0	0	0	0		1	0.999841	81	309	1	33	32								-20.000000	1	1	0	0		1	1	2	3	2.085566	0	0.640000	1.910000	0.642289	0.510000	0.400000	0.660000	0.520000	0.528049	0.510000	0	0.450000	0.590000
TACC2	10579	broad.mit.edu	37	10	123844650	123844650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:123844650G>A	ENST00000369005.1	+	4	2975	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.V879M|TACC2_ENST00000334433.3_Missense_Mutation_p.V879M|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.V879M|TACC2_ENST00000515273.1_Missense_Mutation_p.V879M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2			83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)			CCATGTACCTGTGGAACCTCA	0.517000																								0							SO:0001583	missense			ENST00000369005.1	1	1	hg19	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759507	0.49468	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03181	4.04;4.02;4.02;4.04;4.02	5.8	-2.53	0.06326	.	2.125170	0.02510	N	0.091432	T	0.03739	0.0106	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26318	0.146;0.146;0.146	B;B;B	0.24974	0.057;0.057;0.057	T	0.45775	-0.9238	10	0.72032	D	0.01	0.0434	6.166	0.20390	0.3965:0.2437:0.3598:0.0	.	879;879;879	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	M	879;879;879;879;879;869	ENSP00000358001:V879M;ENSP00000424467:V879M;ENSP00000427618:V879M;ENSP00000334280:V879M;ENSP00000395048:V879M	ENSP00000334280:V879M	V	+	1	0	TACC2	123834640	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.237000	0.08990	-0.136000	0.11475	0.549000	0.68633	GTG		TCGA-IB-7644-01A-11D-2154-08	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	1	0	1	96	217	0	48	1	9.664330e-01	5	10	0	48	2		0	0	0	0	0	2	1	1.000000	94	215	0	48	2								-20.000000	1	1	0	0		1	0	0	0	2.060752	0	0.640000	1.910000	0.640000	0.950000	0.790000	1.000000	1.000000	0.943870	0.950000	1	0.870000	1.000000
OPCML	4978	broad.mit.edu	37	11	132307162	132307162	+	Silent	SNP	G	G	A	rs143650226		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:132307162G>A	ENST00000331898.7	-	4	1196	c.618C>T	c.(616-618)aaC>aaT	p.N206N	OPCML_ENST00000524381.1_Silent_p.N199N|OPCML_ENST00000541867.1_Silent_p.N206N|OPCML_ENST00000374778.4_Silent_p.N165N|OPCML_ENST00000529038.1_5'UTR	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like			47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)			CAGCGACATCGTTCAACGCGC	0.552000																								0							SO:0001819	synonymous_variant			ENST00000331898.7	1	1	hg19	CCDS8492.1																																																																																				TCGA-IB-7644-01A-11D-2154-08	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	1	0	1	118	247	0	53	0	0	0	1	0	53	2		0	0	0	0	0	2	1	1.000000	114	243	1	53	21								-20.000000	1	1	121412	2	35	1	1	2	3	2.081875	0	0.640000	1.910000	0.641148	0.990000	0.860000	1.000000	1.000000	0.976348	0.990000	1	0.930000	1.000000
VPS29	51699	broad.mit.edu	37	12	110933972	110933972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:110933972G>A	ENST00000549578.1	-	2	105	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	VPS29_ENST00000360579.7_Missense_Mutation_p.R18W|VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000551655.1_5'Flank|SNORD50_ENST00000365465.1_RNA|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.R46W	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)			4					CTGTTGCACCGGTGTGGGATG	0.398000																								0							SO:0001583	missense			ENST00000549578.1	1	1	hg19	CCDS41832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.801141|4.801141	0.90538|0.90538	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000360579|ENST00000549578;ENST00000397678;ENST00000546588	.|T;T	.|0.19250	.|2.16;2.16	5.91|5.91	4.09|4.09	0.47781|0.47781	.|Calcineurin-like phosphoesterase superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57695|0.57695	0.2071|0.2071	H|H	0.96015|0.96015	3.755|3.755	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.99	T|T	0.69068|0.69068	-0.5243|-0.5243	5|10	.|0.87932	.|D	.|0	-7.1853|-7.1853	11.8427|11.8427	0.52364|0.52364	0.0657:0.1233:0.811:0.0|0.0657:0.1233:0.811:0.0	.|.	.|14;18	.|Q9UBQ0;Q9UBQ0-2	.|VPS29_HUMAN;.	L|W	30|14;18;46	.|ENSP00000447058:R14W;ENSP00000449044:R46W	.|ENSP00000380795:R18W	P|R	-|-	2|1	0|2	VPS29|VPS29	109418355|109418355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.756000|9.756000	0.98918|0.98918	0.837000|0.837000	0.34925|0.34925	0.655000|0.655000	0.94253|0.94253	CCG|CGG		TCGA-IB-7644-01A-11D-2154-08	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1	1	0	1	104	260	0	71	1	1	100	183	0	71	2		0	0	0	0	0	2	1	1.000000	101	254	0	70	2								-6.928920	1	1	0	0		1	0	0	0	2.008958	0	0.640000	1.910000	0.630542	0.860000	0.720000	1.000000	0.870000	0.870893	0.860000	1	0.790000	0.940000
SLCO1C1	53919	broad.mit.edu	37	12	20854386	20854386	+	Silent	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:20854386T>C	ENST00000266509.2	+	3	632	c.264T>C	c.(262-264)ttT>ttC	p.F88F	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Silent_p.F88F|SLCO1C1_ENST00000381552.1_Silent_p.F88F|SLCO1C1_ENST00000540354.1_Silent_p.F88F	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1			60	Esophageal squamous(101;0.149)			Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATGGTAGTTTTGAAATTGGTA	0.418000																								0							SO:0001819	synonymous_variant			ENST00000266509.2	1	1	hg19	CCDS8683.1																																																																																				TCGA-IB-7644-01A-11D-2154-08	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	1	0	1	176	310	0	84		0	0	0	0	84	2		0	0	0	0	0	2	1	1.000000	174	303	0	84	2								-20.000000	1	1	0	0		1	0	0	0	2.008958	0	0.640000	1.910000	0.630542	0.990000	0.960000	1.000000	1.000000	0.998373	0.990000	1	0.990000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	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)	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	0.348000	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)			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)						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	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	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		TCGA-IB-7644-01A-11D-2154-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	15	77	0	17	1	9.986983e-01	25	37	0	17	2	1	1	102	343	0	449	2	1	0.999896	15	74	0	17	2								-11.057920	1	1	0	0		1	0	0	0	2.008958	0	0.640000	1.910000	0.630542	0.500000	0.300000	0.740000	0.500000	0.515025	0.500000	0	0.390000	0.630000
CENPJ	55835	broad.mit.edu	37	13	25480645	25480645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:25480645C>A	ENST00000381884.4	-	7	1716	c.1531G>T	c.(1531-1533)Gat>Tat	p.D511Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.D511Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J			47		Lung SC(185;0.0225)|Breast(139;0.0602)			CAGCCAGTATCGCAAGGTTTT	0.458000																								0							SO:0001583	missense			ENST00000381884.4	1	1	hg19	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741708	0.30865	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.20598	2.06;2.06	5.93	5.09	0.68999	.	0.383824	0.26680	N	0.023049	T	0.40815	0.1132	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	P	0.60117	0.869	T	0.31998	-0.9923	10	0.72032	D	0.01	.	13.7989	0.63188	0.0:0.9259:0.0:0.0741	.	511	Q9HC77	CENPJ_HUMAN	Y	511	ENSP00000371308:D511Y;ENSP00000441090:D511Y	ENSP00000371308:D511Y	D	-	1	0	CENPJ	24378645	0.005000	0.15991	0.021000	0.16686	0.032000	0.12392	0.409000	0.21082	1.521000	0.48983	0.655000	0.94253	GAT		TCGA-IB-7644-01A-11D-2154-08	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	1	0	1	195	401	0	63	1	8.469623e-01	2	7	0	63	2		0	0	0	0	0	2	1	1.000000	193	397	0	62	2								-16.120830	1	1	0	0		1	1	2	3	2.087239	0	0.640000	1.910000	0.642289	0.990000	0.900000	1.000000	1.000000	0.988034	0.990000	1	0.960000	1.000000
UGGT2	55757	broad.mit.edu	37	13	96651510	96651510	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:96651510T>C	ENST00000376747.3	-	6	782	c.712A>G	c.(712-714)Att>Gtt	p.I238V	UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000397618.3_Missense_Mutation_p.I238V|UGGT2_ENST00000376714.3_Missense_Mutation_p.I238V|UGGT2_ENST00000376712.4_Missense_Mutation_p.I238V	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2			60					GTACTCTTAATTGCTAGCTCC	0.348000																								0							SO:0001583	missense			ENST00000376747.3	1	1	hg19	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995825	0.54147	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.37584	2.84;1.19	5.12	5.12	0.69794	.	0.097816	0.64402	D	0.000002	T	0.47857	0.1468	M	0.77712	2.385	0.50313	D	0.999861	P;P;P	0.42010	0.681;0.681;0.768	B;B;P	0.45232	0.442;0.442;0.474	T	0.55798	-0.8084	10	0.87932	D	0	-18.197	14.246	0.65988	0.0:0.0:0.0:1.0	.	238;238;238	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	V	238	ENSP00000365938:I238V;ENSP00000380743:I238V	ENSP00000365902:I238V	I	-	1	0	UGGT2	95449511	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.186000	0.65082	2.071000	0.62044	0.397000	0.26171	ATT		TCGA-IB-7644-01A-11D-2154-08	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	1	0	1	172	379	0	67	1	9.998195e-01	18	13	0	67	2		0	0	0	0	0	2	1	1.000000	167	373	0	67	2								-20.000000	1	1	121408	4	36	1	1	2	3	2.087239	0	0.640000	1.910000	0.642289	0.970000	0.850000	1.000000	1.000000	0.965888	0.970000	1	0.910000	1.000000
FLRT2	23768	broad.mit.edu	37	14	86089482	86089482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:86089482C>A	ENST00000330753.4	+	2	2391	c.1624C>A	c.(1624-1626)Ctg>Atg	p.L542M	FLRT2_ENST00000554746.1_Missense_Mutation_p.L542M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2			73					CTCCCCCTTTCTGCTGGCGGG	0.587000																								0							SO:0001583	missense			ENST00000330753.4	1	1	hg19	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613533	0.46631	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.59224	0.28;0.28	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.70448	0.3225	L	0.47716	1.5	0.52099	D	0.999943	D	0.76494	0.999	D	0.64042	0.921	T	0.63734	-0.6570	10	0.34782	T	0.22	-12.2962	20.8794	0.99867	0.0:1.0:0.0:0.0	.	542	O43155	FLRT2_HUMAN	M	542;542;195	ENSP00000332879:L542M;ENSP00000451050:L542M	ENSP00000332879:L542M	L	+	1	2	FLRT2	85159235	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.930000	0.56522	2.941000	0.99782	0.655000	0.94253	CTG		TCGA-IB-7644-01A-11D-2154-08	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	1	0	1	229	485	0	96	0	9.990756e-01	0	25	0	96	2		0	0	0	0	0	2	1	1.000000	226	472	0	95	2								-20.000000	1	1	0	0		1	0	0	0	2.066055	0	0.640000	1.910000	0.640000	0.990000	0.890000	1.000000	1.000000	0.979564	0.990000	1	0.940000	1.000000
MYO9A	4649	broad.mit.edu	37	15	72208758	72208758	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:72208758G>C	ENST00000356056.5	-	19	3110	c.2638C>G	c.(2638-2640)Cat>Gat	p.H880D	MYO9A_ENST00000444904.1_Missense_Mutation_p.H861D|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.H880D|MYO9A_ENST00000564571.1_Missense_Mutation_p.H880D|MYO9A_ENST00000566885.1_Missense_Mutation_p.H500D	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA			88					TTGTGTAAATGAAGAAGAGAC	0.353000																								0							SO:0001583	missense			ENST00000356056.5	1	1	hg19	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845130	0.91197	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71341	-0.56;-0.56;-0.56	5.24	5.24	0.73138	Myosin head, motor domain (1);	.	.	.	.	T	0.77844	0.4191	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.994	T	0.74228	-0.3733	9	0.30078	T	0.28	.	17.7426	0.88411	0.0:0.0:1.0:0.0	.	861;861;880	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	D	880;880;861;861	ENSP00000348349:H880D;ENSP00000399162:H880D;ENSP00000398250:H861D	ENSP00000261864:H861D	H	-	1	0	MYO9A	69995812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.112000	0.94314	2.709000	0.92574	0.655000	0.94253	CAT		TCGA-IB-7644-01A-11D-2154-08	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	1	0	1	98	153	0	40	1	9.925988e-01	4	11	0	40	2		0	0	0	0	0	2	1	1.000000	97	150	0	40	2								-20.000000	1	1	0	0		1	0	1	1	1.709338	1	0.640000	1.910000	0.568138	0.990000	0.850000	1.000000	1.000000	0.975731	0.990000	1	0.930000	1.000000
IGFALS	3483	broad.mit.edu	37	16	1842049	1842049	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:1842049G>A	ENST00000215539.3	-	2	480	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	IGFALS_ENST00000568221.1_3'UTR|IGFALS_ENST00000415638.3_Silent_p.L162L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit			8					AGGTGGCACAGGTTCTCTAGG	0.692000																								0							SO:0001819	synonymous_variant			ENST00000215539.3	1	1	hg19	CCDS10446.1																																																																																				TCGA-IB-7644-01A-11D-2154-08	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2	1	0	1	29	62	0	12	0	3.885778e-01	0	4	0	12	2		0	0	0	0	0	2	1	1.000000	29	61	0	11	2								-20.000000	1	1	0	0		1	1	2	3	2.084790	0	0.640000	1.910000	0.642289	0.990000	0.720000	1.000000	1.000000	0.944444	0.990000	1	0.850000	1.000000
VTN	7448	broad.mit.edu	37	17	26696428	26696428	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:26696428T>C	ENST00000226218.4	-	4	1169	c.551A>G	c.(550-552)gAc>gGc	p.D184G	CTB-96E2.3_ENST00000591482.1_RNA|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank|VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin			13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			Abciximab(DB00054)	TGCCTTTTCGTCCAGTTCATA	0.617000																								0							SO:0001583	missense			ENST00000226218.4	0	1	hg19	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403826	0.83230	.	.	ENSG00000255604	ENST00000226218	T	0.03689	3.84	5.79	5.79	0.91817	Hemopexin/matrixin (2);	0.042633	0.85682	D	0.000000	T	0.19406	0.0466	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00153	-1.1982	10	0.59425	D	0.04	-27.9352	16.1189	0.81329	0.0:0.0:0.0:1.0	.	184	P04004	VTNC_HUMAN	G	184	ENSP00000226218:D184G	ENSP00000226218:D184G	D	-	2	0	AC002094.1	23720555	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.649000	0.83500	2.208000	0.71279	0.459000	0.35465	GAC		TCGA-IB-7644-01A-11D-2154-08	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	0	0	0	8	296	0	48	0	3.568345e-02	0	10	0	48	2		0	0	0	0	0	2	1	0.988264	8	287	0	48	2								-9.049258	1	0	0	0		1	1	2	3	2.077463	0	0.640000	1.910000	0.641148	0.080000	0.030000	0.160000	0.080000	0.092039	0.080000	0	0.050000	0.120000
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GAAGCCCAGACGGAAACCGTA	0.612000		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)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	GRCh37	CM984590	TP53	M	rs11540654	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;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		TCGA-IB-7644-01A-11D-2154-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1	125	167	0	68	1	1	57	41	0	68	2	1	1	74	57	0	171	2	1	1.000000	122	163	0	68	2								-20.000000	1	1	121412	6	41	1	0	1	1	1.431822	1	0.640000	1.910000	0.473068	0.900000	0.780000	1.000000	0.910000	0.904147	0.900000	1	0.840000	0.960000
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.S144*(5)|p.?(4)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			TAAGATCTCTCAGGATTAACA	0.294000																								45	Whole gene deletion(36)|Substitution - Nonsense(5)|Unknown(4)						SO:0001587	stop_gained			ENST00000342988.3	0	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.517242	0.99193	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.1014	0.93275	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000341551:S144X	S	+	2	0	SMAD4	46829669	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.885000	0.63142	2.810000	0.96702	0.585000	0.79938	TCA		TCGA-IB-7644-01A-11D-2154-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1	30	49	0	24	1	1	14	43	0	24	2	1	9.994285e-01	8	16	0	61	2	1	1.000000	30	49	0	24	2								-7.280753	1	1	0	0		1	0	1	1	1.418826	1	0.640000	1.910000	0.470588	0.780000	0.580000	0.970000	0.800000	0.791332	0.780000	0	0.680000	0.900000
SERPINB5	5268	broad.mit.edu	37	18	61156680	61156680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:61156680T>C	ENST00000382771.4	+	4	699	c.407T>C	c.(406-408)aTt>aCt	p.I136T	SERPINB5_ENST00000489441.1_Missense_Mutation_p.I136T	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5			12					AACAACTCAATTAAGGATCTC	0.388000																								0							SO:0001583	missense			ENST00000382771.4	1	1	hg19	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383613	0.61845	.	.	ENSG00000206075	ENST00000382771	D	0.85088	-1.94	5.75	5.75	0.90469	Serpin domain (3);	0.290065	0.34411	N	0.003991	D	0.87657	0.6232	M	0.72894	2.215	0.42662	D	0.993484	P;P	0.39847	0.531;0.691	B;P	0.44921	0.349;0.464	D	0.89171	0.3537	10	0.87932	D	0	.	16.0154	0.80434	0.0:0.0:0.0:1.0	.	136;136	P36952;P36952-2	SPB5_HUMAN;.	T	136	ENSP00000372221:I136T	ENSP00000372221:I136T	I	+	2	0	SERPINB5	59307660	1.000000	0.71417	0.944000	0.38274	0.984000	0.73092	5.559000	0.67326	2.323000	0.78572	0.533000	0.62120	ATT		TCGA-IB-7644-01A-11D-2154-08	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	1	0	1	93	92	0	33	1	1	229	0	0	33	2		0	0	0	0	0	2	1	1.000000	90	90	0	33	2								-20.000000	1	1	0	0		1	0	1	1	1.418826	1	0.640000	1.910000	0.470588	0.960000	0.860000	1.000000	0.990000	0.959677	0.960000	1	0.910000	0.990000
CACNA1A	773	broad.mit.edu	37	19	13445253	13445253	+	Silent	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:13445253C>T	ENST00000360228.5	-	8	1136	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	CACNA1A_ENST00000573710.2_Silent_p.L379L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit			42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)	Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGCCGCCTCAGCTTCAGAA	0.517000																								0							SO:0001819	synonymous_variant			ENST00000360228.5	1	1	hg19	CCDS45998.1																																																																																				TCGA-IB-7644-01A-11D-2154-08	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	1	0	1	131	280	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	1.000000	130	274	0	46	2								-11.117480	1	1	0	0		1	1	2	3	2.074461	0	0.640000	1.910000	0.641148	0.990000	0.850000	1.000000	1.000000	0.971519	0.990000	1	0.920000	1.000000
SPTBN4	57731	broad.mit.edu	37	19	41063285	41063285	+	Silent	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:41063285T>C	ENST00000352632.3	+	26	5732	c.5646T>C	c.(5644-5646)caT>caC	p.H1882H	SPTBN4_ENST00000392023.1_Silent_p.H558H|SPTBN4_ENST00000598249.1_Silent_p.H1882H|SPTBN4_ENST00000338932.3_Silent_p.H1882H|SPTBN4_ENST00000392025.1_Silent_p.H625H|SPTBN4_ENST00000595535.1_Silent_p.H1882H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4			73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		CCTTTGAGCATGACCTGCAGC	0.667000																								0							SO:0001819	synonymous_variant			ENST00000352632.3	1	1	hg19	CCDS12559.1																																																																																				TCGA-IB-7644-01A-11D-2154-08	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	1	0	0	134	267	0	45	0	0	1	0	0	45	2		0	0	0	0	0	2	1	1.000000	133	264	0	41	2								-20.000000	1	1	121126	3	40	1	1	2	3	2.074461	0	0.640000	1.910000	0.641148	0.990000	0.900000	1.000000	1.000000	0.988869	0.990000	1	0.970000	1.000000
ADNP	23394	broad.mit.edu	37	20	49510730	49510730	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:49510730T>A	ENST00000396029.3	-	5	1088	c.521A>T	c.(520-522)gAt>gTt	p.D174V	ADNP_ENST00000349014.3_Missense_Mutation_p.D174V|ADNP_ENST00000396032.3_Missense_Mutation_p.D174V|ADNP_ENST00000371602.4_Missense_Mutation_p.D174V	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox			39					ATAAAGAGGATCTCGGTAAGT	0.398000																								0							SO:0001583	missense			ENST00000396029.3	1	1	hg19	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.491473	0.64074	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82088	-0.0630	10	0.41790	T	0.15	-7.5506	16.27	0.82612	0.0:0.0:0.0:1.0	.	174	Q9H2P0	ADNP_HUMAN	V	174	ENSP00000360662:D174V;ENSP00000342905:D174V;ENSP00000379346:D174V;ENSP00000379349:D174V	ENSP00000342905:D174V	D	-	2	0	ADNP	48944137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.248000	0.74166	0.533000	0.62120	GAT		TCGA-IB-7644-01A-11D-2154-08	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	1	0	1	271	612	0	113	1	1	28	54	0	113	2		0	0	0	0	0	2	1	1.000000	267	602	0	113	2								-20.000000	1	1	0	0		1	0	0	0	2.058632	0	0.640000	1.910000	0.640000	0.950000	0.850000	1.000000	1.000000	0.954046	0.950000	1	0.900000	1.000000
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B			19		Ovarian(80;0.00965)|all_neural(38;0.0416)			GGCAGCCTCACGGCTCCCTGC	0.701000																								0							SO:0001583	missense			ENST00000339464.4	1	1	hg19	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	WNT7B	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT		TCGA-IB-7644-01A-11D-2154-08	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	1	0	1	59	62	0	23	0	2.399685e-01	0	2	0	23	2		0	0	0	0	0	2	1	1.000000	59	61	0	23	2								-20.000000	1	1	0	0		1	0	1	1	1.444865	1	0.640000	1.910000	0.475524	0.950000	0.810000	1.000000	1.000000	0.949981	0.950000	1	0.890000	1.000000
ZNF513	130557	broad.mit.edu	37	2	27601875	27601875	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:27601875G>A	ENST00000323703.6	-	3	456	c.258C>T	c.(256-258)gaC>gaT	p.D86D	ZNF513_ENST00000407879.1_Silent_p.D24D|ZNF513_ENST00000491924.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513			17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CAGACTCATCGTCGCTCAGCC	0.622000																								0							SO:0001819	synonymous_variant			ENST00000323703.6	0	1	hg19	CCDS1751.1																																																																																				TCGA-IB-7644-01A-11D-2154-08	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	1	0	0	9	196	0	21	1	8.048645e-01	4	64	0	21	2		0	0	0	0	0	2	1	0.993584	9	189	0	21	2								-11.217740	1	1	120588	4	34	1	1	2	3	2.071992	0	0.640000	1.910000	0.641148	0.140000	0.060000	0.260000	0.140000	0.151038	0.140000	0	0.090000	0.200000
ULK4	54986	broad.mit.edu	37	3	41795926	41795926	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:41795926C>T	ENST00000301831.4	-	22	2710	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4			22					AAGGCTTTTGCTCTAATGCAT	0.358000																								0							SO:0001583	missense			ENST00000301831.4	1	1	hg19	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821567	0.71028	.	.	ENSG00000168038	ENST00000301831	T	0.65178	-0.14	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (2);	0.064020	0.64402	U	0.000010	T	0.76133	0.3945	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78321	-0.2249	10	0.87932	D	0	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	750	Q96C45	ULK4_HUMAN	T	750	ENSP00000301831:A750T	ENSP00000301831:A750T	A	-	1	0	ULK4	41770930	1.000000	0.71417	0.998000	0.56505	0.359000	0.29487	5.711000	0.68400	2.466000	0.83321	0.591000	0.81541	GCA		TCGA-IB-7644-01A-11D-2154-08	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	0	0	0	10	328	0	51	0	3.329006e-03	0	3	0	51	2		0	0	0	0	0	2	1	0.996803	10	324	0	51	2								-3.579879	1	1	0	0		1	1	2	3	2.072867	0	0.640000	1.910000	0.641148	0.090000	0.040000	0.170000	0.100000	0.101261	0.090000	0	0.060000	0.130000
CELSR3	1951	broad.mit.edu	37	3	48680455	48680455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:48680455G>A	ENST00000164024.4	-	29	8631	c.8351C>T	c.(8350-8352)cCa>cTa	p.P2784L	CELSR3_ENST00000544264.1_Missense_Mutation_p.P2789L|MIR4793_ENST00000577502.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3			83					CAGACAGGCTGGCATCCAGGC	0.637000																								0							SO:0001583	missense			ENST00000164024.4	1	1	hg19	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364421	0.24684	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.35973	1.28;1.28	5.67	4.79	0.61399	.	.	.	.	.	T	0.08223	0.0205	N	0.00268	-1.735	0.39506	D	0.96828	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.33137	-0.9880	9	0.11485	T	0.65	.	6.3622	0.21435	0.192:0.0:0.808:0.0	.	2789;2784;2882	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	L	2784;2789	ENSP00000164024:P2784L;ENSP00000445694:P2789L	ENSP00000164024:P2784L	P	-	2	0	CELSR3	48655459	0.991000	0.36638	1.000000	0.80357	0.735000	0.41995	5.747000	0.68689	2.686000	0.91538	0.561000	0.74099	CCA		TCGA-IB-7644-01A-11D-2154-08	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	1	0	1	113	229	0	43		0	0	0	0	43	2	1	1	259	576	0	641	2	1	1.000000	110	224	0	42	2								-20.000000	1	1	0	0		1	1	2	3	2.072867	0	0.640000	1.910000	0.641148	0.990000	0.870000	1.000000	1.000000	0.983580	0.990000	1	0.950000	1.000000
LAMB2	3913	broad.mit.edu	37	3	49166233	49166233	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:49166233C>T	ENST00000418109.1	-	15	1915	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R584H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	p.R584H(1)		61					GGTCACCAGGCGCTCCACCAC	0.617000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000418109.1	1	1	hg19	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582871	0.96578	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.37058	1.22;1.22	5.04	5.04	0.67666	Laminin IV (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68334	-0.5436	10	0.49607	T	0.09	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	584	P55268	LAMB2_HUMAN	H	584	ENSP00000388325:R584H;ENSP00000307156:R584H	ENSP00000307156:R584H	R	-	2	0	LAMB2	49141237	0.997000	0.39634	0.992000	0.48379	0.778000	0.44026	3.609000	0.54117	2.348000	0.79779	0.561000	0.74099	CGC		TCGA-IB-7644-01A-11D-2154-08	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	1	0	1	124	272	0	55	1	1	48	198	0	55	2		0	0	0	0	0	2	1	1.000000	122	266	0	53	2								-20.000000	1	1	121410	2	33	1	1	2	3	2.072867	0	0.640000	1.910000	0.641148	0.970000	0.830000	1.000000	1.000000	0.961574	0.970000	1	0.900000	1.000000
PDZRN3	23024	broad.mit.edu	37	3	73438996	73438996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:73438996G>A	ENST00000263666.4	-	7	1501	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120C|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3			69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)			TCTCGGATGCGCCCATCCTTG	0.468000																								0							SO:0001583	missense			ENST00000263666.4	1	1	hg19	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443481	0.83993	0.0	1.16E-4	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.43	5.43	0.79202	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.86441	0.1767	10	0.87932	D	0	.	18.8532	0.92241	0.0:0.0:1.0:0.0	.	185;180;180;463	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	463;185;120;120;180;463;161	ENSP00000263666:R463C;ENSP00000442026:R185C;ENSP00000418168:R120C;ENSP00000418484:R120C;ENSP00000418624:R180C;ENSP00000419250:R161C	ENSP00000263666:R463C	R	-	1	0	PDZRN3	73521686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.496000	0.53288	2.547000	0.85894	0.655000	0.94253	CGC		TCGA-IB-7644-01A-11D-2154-08	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	1	0	1	102	250	0	51	0	9.999322e-01	1	37	0	51	2		0	0	0	0	0	2	1	1.000000	100	248	0	51	2								-20.000000	1	1	121412	4	40	1	1	2	3	2.072867	0	0.640000	1.910000	0.641148	0.900000	0.760000	1.000000	1.000000	0.905982	0.900000	1	0.830000	0.990000
KDM3B	51780	broad.mit.edu	37	5	137756544	137756544	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:137756544G>A	ENST00000314358.5	+	15	4065	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	KDM3B_ENST00000394866.1_Missense_Mutation_p.E945K|KDM3B_ENST00000542866.1_Missense_Mutation_p.E321K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B			65					CAACAAAACCGAAGGGTCTAG	0.547000																								0							SO:0001583	missense			ENST00000314358.5	0	1	hg19	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	35	5.563185	0.96527	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.73047	-0.16;-0.71;-0.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.76575	0.988;0.702	T	0.78043	-0.2358	10	0.34782	T	0.22	-5.7754	19.6582	0.95853	0.0:0.0:1.0:0.0	.	945;1289	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	K	1289;1079;945;321	ENSP00000326563:E1289K;ENSP00000378335:E945K;ENSP00000439462:E321K	ENSP00000326563:E1289K	E	+	1	0	KDM3B	137784443	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.219000	0.95173	2.648000	0.89879	0.561000	0.74099	GAA		TCGA-IB-7644-01A-11D-2154-08	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	0	0	0	10	361	0	56	1	9.469735e-01	4	181	0	56	2		0	0	0	0	0	2	1	0.996527	10	351	0	56	2								-9.647582	1	1	121412	2	38	1	1	2	3	2.077058	0	0.640000	1.910000	0.641148	0.080000	0.030000	0.150000	0.080000	0.092315	0.080000	0	0.050000	0.120000
PCDHA4	56144	broad.mit.edu	37	5	140188477	140188477	+	Missense_Mutation	SNP	C	C	T	rs13189658		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140188477C>T	ENST00000530339.1	+	1	1705	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R569W|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R569W|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4			78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCTAGCGCCTCGGGCGGGTGG	0.687000																								0							SO:0001583	missense			ENST00000530339.1	1	1	hg19	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	1.484	-0.556544	0.03967	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.64085	-0.08;-0.08;-0.08	4.22	2.14	0.27477	Cadherin-like (1);	.	.	.	.	T	0.51686	0.1689	L	0.48877	1.53	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.003	B;B;B	0.13407	0.009;0.002;0.002	T	0.45338	-0.9268	9	0.46703	T	0.11	.	7.1916	0.25828	0.1772:0.4564:0.3664:0.0	rs13189658;rs13189658	569;569;569	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	W	569	ENSP00000423470:R569W;ENSP00000349344:R569W;ENSP00000435300:R569W	ENSP00000349344:R569W	R	+	1	2	PCDHA4	140168661	0.000000	0.05858	0.051000	0.19133	0.146000	0.21551	-0.186000	0.09670	0.874000	0.35823	0.585000	0.79938	CGG		TCGA-IB-7644-01A-11D-2154-08	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	1	0	1	180	346	0	50		0	0	0	0	50	2		0	0	0	0	0	2	1	1.000000	178	340	0	48	2								-16.686500	1	1	121252	4	37	1	1	2	3	2.077058	0	0.640000	1.910000	0.641148	0.990000	0.940000	1.000000	1.000000	0.995945	0.990000	1	0.990000	1.000000
PCDHGB6	56100	broad.mit.edu	37	5	140788898	140788898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140788898G>A	ENST00000520790.1	+	1	1129	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6			48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		TCTGGATTTCGGAGGAAATGG	0.413000																								0							SO:0001583	missense			ENST00000520790.1	1	1	hg19	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	15.55	2.867883	0.51588	.	.	ENSG00000253305	ENST00000520790	T	0.27890	1.64	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58466	0.2124	M	0.92268	3.29	0.30036	N	0.813014	D;D	0.54964	0.969;0.962	P;P	0.51297	0.665;0.534	T	0.67991	-0.5527	9	0.72032	D	0.01	.	18.7185	0.91685	0.0:0.0:1.0:0.0	.	377;377	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	R	377	ENSP00000428603:G377R	ENSP00000428603:G377R	G	+	1	0	PCDHGB6	140769082	0.998000	0.40836	0.106000	0.21319	0.902000	0.53008	3.463000	0.53050	2.509000	0.84616	0.563000	0.77884	GGA		TCGA-IB-7644-01A-11D-2154-08	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	1	0	1	53	171	0	28	0	7.240969e-01	0	10	0	28	2		0	0	0	0	0	2	1	1.000000	52	170	0	28	2								-20.000000	1	1	0	0		1	1	2	3	2.077058	0	0.640000	1.910000	0.641148	0.730000	0.570000	0.930000	0.740000	0.747098	0.730000	0	0.650000	0.840000
SPARC	6678	broad.mit.edu	37	5	151045924	151045924	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:151045924G>A	ENST00000231061.4	-	8	1045	c.732C>T	c.(730-732)gaC>gaT	p.D244D	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	p.D244D(1)		15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		GGTCTTACCCGTCAATGGGGT	0.572000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000231061.4	1	1	hg19	CCDS4318.1																																																																																				TCGA-IB-7644-01A-11D-2154-08	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	1	0	0	63	229	0	33	1	1	9	7782	0	33	2		0	0	0	0	0	2	1	1.000000	62	229	0	32	2								-20.000000	1	1	121412	3	36	1	1	2	3	2.077058	0	0.640000	1.910000	0.641148	0.670000	0.530000	0.830000	0.680000	0.681144	0.670000	0	0.600000	0.760000
KIAA1244	57221	broad.mit.edu	37	6	138528250	138528250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:138528250C>T	ENST00000251691.4	+	3	375	c.209C>T	c.(208-210)gCa>gTa	p.A70V		NM_020340.4	NP_065073.3			KIAA1244			44	Breast(32;0.135)				CATGCTTTGGCAGGGATGCAG	0.443000																								0							SO:0001583	missense			ENST00000251691.4	0	1	hg19	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035145	0.75617	.	.	ENSG00000112379	ENST00000251691	T	0.18960	2.18	5.58	5.58	0.84498	.	.	.	.	.	T	0.10035	0.0246	N	0.22421	0.69	0.47621	D	0.999476	P	0.42456	0.78	B	0.38106	0.265	T	0.04781	-1.0927	9	0.45353	T	0.12	-5.4118	19.5927	0.95522	0.0:1.0:0.0:0.0	.	70	Q5TH69	BIG3_HUMAN	V	70	ENSP00000251691:A70V	ENSP00000251691:A70V	A	+	2	0	KIAA1244	138569943	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.262000	0.78410	2.618000	0.88619	0.557000	0.71058	GCA		TCGA-IB-7644-01A-11D-2154-08	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	0	0	0	3	37	0	10	0	5.764116e-01	0	22	0	10	2		0	0	0	0	0	2	1	0.812650	3	37	0	10	2								-7.239876	1	0	0	0		1	0	1	1	1.419031	1	0.640000	1.910000	0.470588	0.170000	0.050000	0.390000	0.160000	0.196821	0.170000	0	0.100000	0.280000
SYNJ2	8871	broad.mit.edu	37	6	158490618	158490618	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:158490618C>G	ENST00000355585.4	+	14	1928	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S618C|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S618C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2			46					ATCTCACGCTCTCATAGATAC	0.453000																								0							SO:0001583	missense			ENST00000355585.4	1	1	hg19	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567503	0.86439	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	T;T;T	0.80738	-1.41;-1.41;-1.41	5.45	5.45	0.79879	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.221665	0.32372	N	0.006187	D	0.86251	0.5888	M	0.82433	2.59	0.80722	D	1	D;P	0.61080	0.989;0.915	D;P	0.62955	0.909;0.792	T	0.79617	-0.1729	10	0.87932	D	0	.	19.3673	0.94469	0.0:1.0:0.0:0.0	.	618;618	O15056;O15056-3	SYNJ2_HUMAN;.	C	618	ENSP00000356089:S618C;ENSP00000356088:S618C;ENSP00000347792:S618C	ENSP00000347792:S618C	S	+	2	0	SYNJ2	158410606	1.000000	0.71417	0.383000	0.26132	0.987000	0.75469	4.966000	0.63715	-2.744000	0.00378	-0.298000	0.09462	TCT		TCGA-IB-7644-01A-11D-2154-08	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2	1	0	1	72	81	0	30	1	9.999999e-01	16	18	0	30	2		0	0	0	0	0	2	1	1.000000	71	81	0	30	2								-20.000000	1	1	0	0		1	0	1	1	1.419031	1	0.640000	1.910000	0.470588	0.930000	0.800000	1.000000	0.990000	0.932800	0.930000	1	0.870000	0.990000
WTAP	9589	broad.mit.edu	37	6	160174521	160174521	+	Missense_Mutation	SNP	G	G	A	rs112093927		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:160174521G>A	ENST00000358372.4	+	7	2239	c.482G>A	c.(481-483)tGt>tAt	p.C161Y	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein			18		Breast(66;0.000776)|Ovarian(120;0.0303)			ATGGCGAAGTGTCGAATGCTT	0.423000																								0							SO:0001583	missense			ENST00000358372.4	1	1	hg19	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842459	0.91197	.	.	ENSG00000146457	ENST00000358372	T	0.49720	0.77	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.86028	2.79	0.80722	D	1	B;B	0.18166	0.026;0.008	B;B	0.22601	0.04;0.009	T	0.47142	-0.9140	10	0.52906	T	0.07	0.0359	15.9972	0.80260	0.065:0.0:0.935:0.0	.	161;161	A8K489;Q15007	.;FL2D_HUMAN	Y	161	ENSP00000351141:C161Y	ENSP00000351141:C161Y	C	+	2	0	WTAP	160094511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.986000	0.88173	2.941000	0.99782	0.655000	0.94253	TGT		TCGA-IB-7644-01A-11D-2154-08	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	1	0	1	93	124	0	28	1	1	97	32	0	28	2		0	0	0	0	0	2	1	1.000000	93	120	0	28	2								-20.000000	1	1	0	0		1	0	1	1	1.419031	1	0.640000	1.910000	0.470588	0.890000	0.760000	0.990000	0.910000	0.894412	0.890000	1	0.820000	0.960000
GPR115	221393	broad.mit.edu	37	6	47682152	47682152	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:47682152A>T	ENST00000283303.2	+	6	1429	c.1171A>T	c.(1171-1173)Atg>Ttg	p.M391L	GPR115_ENST00000371220.1_Missense_Mutation_p.M448L|GPR115_ENST00000327753.3_Missense_Mutation_p.M391L|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115			52					TTCCATTCTCATGTCCTCCAA	0.463000													GBM(22;431 510 9010 26644 32828)											0							SO:0001583	missense			ENST00000283303.2	1	1	hg19	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795404	0.70452	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.71579	-0.58;-0.58;-0.58	5.26	5.26	0.73747	GPS domain (2);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	M	0.92507	3.315	0.44611	D	0.997589	D	0.71674	0.998	D	0.85130	0.997	D	0.89126	0.3506	10	0.87932	D	0	-37.4673	14.6574	0.68844	1.0:0.0:0.0:0.0	.	391	Q8IZF3	GP115_HUMAN	L	448;391;391	ENSP00000360264:M448L;ENSP00000328319:M391L;ENSP00000283303:M391L	ENSP00000283303:M391L	M	+	1	0	GPR115	47790111	1.000000	0.71417	0.916000	0.36221	0.583000	0.36354	7.544000	0.82117	2.117000	0.64856	0.533000	0.62120	ATG		TCGA-IB-7644-01A-11D-2154-08	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	1	0	1	89	175	0	35	1	8.974225e-01	10	0	0	35	2		0	0	0	0	0	2	1	1.000000	85	175	0	35	2								-20.000000	1	1	0	0		1	1	2	3	2.085566	0	0.640000	1.910000	0.642289	0.990000	0.880000	1.000000	1.000000	0.986882	0.990000	1	0.960000	1.000000
TRIM73	375593	broad.mit.edu	37	7	75028266	75028266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:75028266C>T	ENST00000437796.1	+	1	68	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000430211.1_Missense_Mutation_p.P17S|TRIM73_ENST00000323819.3_Missense_Mutation_p.P17S|TRIM73_ENST00000447409.2_Missense_Mutation_p.P17S			Q86UV7	TRI73_HUMAN	tripartite motif containing 73			4					GCTTCAGTGTCCCATCTGCCT	0.602000																								0							SO:0001583	missense			ENST00000437796.1	1	1	hg19	CCDS34665.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901498	0.52227	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	2.31	2.31	0.28768	Zinc finger, RING/FYVE/PHD-type (2);Zinc finger, RING-type (4);Zinc finger, C3HC4 RING-type (2);	0.000000	0.64402	D	0.000009	D	0.90242	0.6949	L	0.38838	1.175	0.30113	N	0.806419	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86223	0.1632	10	0.56958	D	0.05	.	12.185	0.54234	0.0:1.0:0.0:0.0	.	17;17	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	S	17	ENSP00000318615:P17S;ENSP00000410121:P17S;ENSP00000407135:P17S;ENSP00000417040:P17S	ENSP00000318615:P17S	P	+	1	0	TRIM73	74866202	0.993000	0.37304	0.999000	0.59377	0.694000	0.40290	1.866000	0.39489	1.612000	0.50221	0.400000	0.26472	CCC		TCGA-IB-7644-01A-11D-2154-08	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342950.1	0	0	1	106	448	1	61		0	0	0	1	61	2		0	0	0	0	0	2	1	1.000000	105	432	1	64	25								-3.389021	1	1	0	0		1	1	2	3	2.068926	0	0.640000	1.910000	0.641148	0.590000	0.490000	0.710000	0.600000	0.602708	0.590000	0	0.540000	0.660000
PRPS1	5631	broad.mit.edu	37	X	106890883	106890883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:106890883G>A	ENST00000372435.4	+	6	874	c.752G>A	c.(751-753)gGa>gAa	p.G251E	PRPS1_ENST00000372418.1_Missense_Mutation_p.G151E|PRPS1_ENST00000543248.1_Missense_Mutation_p.G251E|PRPS1_ENST00000372428.4_Missense_Mutation_p.G184E	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1			23					TTGACTCATGGAATCTTCTCC	0.443000																								0							SO:0001583	missense			ENST00000372435.4	1	1	hg19	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953914	0.73902	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.94391	0.8196	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96295	0.9217	10	0.72032	D	0.01	.	14.6655	0.68904	0.0:0.0:1.0:0.0	.	251;251	Q53FW2;P60891	.;PRPS1_HUMAN	E	251;184;251;151	ENSP00000361512:G251E;ENSP00000361505:G184E;ENSP00000443185:G251E;ENSP00000361495:G151E	ENSP00000361495:G151E	G	+	2	0	PRPS1	106777539	1.000000	0.71417	0.941000	0.38009	0.678000	0.39670	9.145000	0.94634	2.118000	0.64928	0.600000	0.82982	GGA		TCGA-IB-7644-01A-11D-2154-08	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1	1	0	0	42	729	0	95	0	9.806105e-01	0	109	0	95	2		0	0	0	0	0	2	1	1.000000	41	721	0	94	2								-6.797974	1	1	0	0		1	0	1	1			0.640000	1.910000	0.640000	0.160000	0.110000	0.230000	0.170000	0.173693	0.160000	0	0.140000	0.200000