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
MMP21	118856	broad.mit.edu	37	10	127461268	127461268	+	Missense_Mutation	SNP	G	G	A	rs146859109		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr10:127461268G>A	ENST00000368808.3	-	3	748	c.749C>T	c.(748-750)gCa>gTa	p.A250V		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21			16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)		Marimastat(DB00786)	CCAGGCGTGTGCAAACTCCTG	0.647000																								0							SO:0001583	missense			ENST00000368808.3	0	1	hg19	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195076	0.94960	.	.	ENSG00000154485	ENST00000368808	T	0.37058	1.22	4.51	4.51	0.55191	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.060133	0.64402	D	0.000004	T	0.70474	0.3228	H	0.95294	3.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80555	-0.1330	10	0.87932	D	0	-15.8357	14.7847	0.69793	0.0:0.0:1.0:0.0	.	250	Q8N119	MMP21_HUMAN	V	250	ENSP00000357798:A250V	ENSP00000357798:A250V	A	-	2	0	MMP21	127451258	1.000000	0.71417	0.942000	0.38095	0.896000	0.52359	7.729000	0.84864	2.350000	0.79820	0.561000	0.74099	GCA		TCGA-IB-AAUR-01A-21D-A38G-08	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1	0	0	0	4	212	0	98	0	6.283775e-04	0	2	0	98	2		0	0	0	0	0	2	1	0.884440	4	206	0	97	2		0	0	0	0	98	2	-3.420723	1	1	0	0		1	0	1	1	1.997754	0	0.180000	2.010000	0.177037	0.220000	0.070000	0.480000	0.200000	0.248484	0.220000	0	0.130000	0.350000
CADM1	23705	broad.mit.edu	37	11	115109255	115109255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:115109255G>A	ENST00000452722.3	-	3	409	c.389C>T	c.(388-390)cCc>cTc	p.P130L	CADM1_ENST00000537058.1_Missense_Mutation_p.P130L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000536727.1_Missense_Mutation_p.P130L|CADM1_ENST00000331581.6_Missense_Mutation_p.P130L|CADM1_ENST00000542447.2_Missense_Mutation_p.P130L	NM_014333.3	NP_055148.3			cell adhesion molecule 1			32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)			TTCCTGTGGGGGATCGGTATA	0.448000																								0							SO:0001583	missense			ENST00000452722.3	0	1	hg19	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670276|4.670276	0.88348|0.88348	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249	D;D;D;D;D;D|D	0.83506|0.83419	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73|-1.72	5.38|5.38	5.38|5.38	0.77491|0.77491	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87497|0.87497	0.6192|0.6192	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.992;0.999|.	D|D	0.85876|0.85876	0.1419|0.1419	10|8	0.66056|0.41790	D|T	0.02|0.15	.|.	19.3366|19.3366	0.94322|0.94322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;130;131;130;130|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	L|S	130;130;130;130;89;130;97|114	ENSP00000439176:P130L;ENSP00000395359:P130L;ENSP00000439817:P130L;ENSP00000440322:P130L;ENSP00000329797:P130L;ENSP00000439696:P97L|ENSP00000442227:P114S	ENSP00000329797:P130L|ENSP00000442227:P114S	P|P	-|-	2|1	0|0	CADM1|CADM1	114614465|114614465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.222000|9.222000	0.95196|0.95196	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	CCC|CCC		TCGA-IB-AAUR-01A-21D-A38G-08	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	0	0	0	13	611	1	277	1	5.645568e-02	2	15	1	277	2		0	0	0	0	0	2	0	0.560205	12	602	2	275	13		0	0	0	1	277	2	-2.861041	1	1	0	0		1	0	1	1	1.998163	0	0.180000	2.010000	0.177037	0.230000	0.120000	0.380000	0.230000	0.245755	0.230000	0	0.170000	0.310000
NAALAD2	10003	broad.mit.edu	37	11	89868837	89868837	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:89868837C>T	ENST00000534061.1	+	2	423	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	NAALAD2_ENST00000375944.3_Splice_Site_p.R65C|NAALAD2_ENST00000321955.4_Splice_Site_p.R65C|NAALAD2_ENST00000525171.1_Splice_Site_p.R65C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2			59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)			ATCATTTCTTCGGTAAGTTTA	0.348000																								0							SO:0001630	splice_region_variant			ENST00000534061.1	0	1	hg19	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626242	0.66901	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.50001	0.76;0.96;0.96;0.96;0.96;0.96	5.17	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.87617	2.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.98;0.98;0.965;0.997;0.98	T	0.74372	-0.3687	9	.	.	.	-6.1181	11.0386	0.47816	0.0:0.9137:0.0:0.0863	.	65;65;65;65;65	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	C	65;65;65;65;65;11	ENSP00000431989:R65C;ENSP00000432481:R65C;ENSP00000320083:R65C;ENSP00000435249:R65C;ENSP00000365111:R65C;ENSP00000435670:R11C	.	R	+	1	0	NAALAD2	89508485	0.998000	0.40836	1.000000	0.80357	0.783000	0.44284	1.650000	0.37292	1.425000	0.47237	0.644000	0.83932	CGT		TCGA-IB-AAUR-01A-21D-A38G-08	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	0	0	0	4	208	0	100	0	0	0	1	0	100	2		0	0	0	0	0	2	1	0.884319	4	202	0	98	2		0	0	0	0	100	2	-3.104347	1	1	0	0		1	0	1	1	1.998163	0	0.180000	2.010000	0.177037	0.230000	0.070000	0.490000	0.200000	0.253025	0.230000	0	0.130000	0.360000
STAB2	55576	broad.mit.edu	37	12	104048365	104048365	+	Silent	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:104048365C>A	ENST00000388887.2	+	13	1644	c.1440C>A	c.(1438-1440)ggC>ggA	p.G480G	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2			174					TCCATGGAGGCAAAAAGAAGG	0.398000																								0							SO:0001819	synonymous_variant			ENST00000388887.2	0	1	hg19	CCDS31888.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	0	0	0	6	291	0	122	0	0	0	1	0	122	2		0	0	0	0	0	2	1	0.963522	4	288	0	122	2		0	0	0	0	122	2	-6.720887	1	0	0	0		1	1	2	3	1.999677	0	0.180000	2.010000	0.182941	0.240000	0.090000	1.000000	0.220000	0.278532	0.240000	0	0.150000	0.360000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	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	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	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-AAUR-01A-21D-A38G-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	0	0	15	355	0	145	1	1.517387e-01	6	10	0	145	2	1	9.999763e-01	12	441	0	315	2	1	0.999868	15	351	0	145	2	1	1	393	7627	0	145	2	-4.237758	1	1	0	0		1	1	2	3	2.001217	0	0.180000	2.010000	0.185134	0.460000	0.270000	1.000000	0.440000	0.504453	0.460000	0	0.350000	0.620000
XPO4	64328	broad.mit.edu	37	13	21375026	21375026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr13:21375026A>G	ENST00000255305.6	-	14	1992	c.1921T>C	c.(1921-1923)Ttt>Ctt	p.F641L	XPO4_ENST00000400602.2_Missense_Mutation_p.F641L			Q9C0E2	XPO4_HUMAN	exportin 4			41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)			CGTTTTAAAAACCAAACAATA	0.378000																								0							SO:0001583	missense			ENST00000255305.6	0	1	hg19	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	31	5.062550	0.93898	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.63744	-0.06;-0.06	5.65	4.46	0.54185	Armadillo-type fold (1);	0.043532	0.85682	D	0.000000	T	0.72755	0.3500	M	0.68593	2.085	0.80722	D	1	P	0.52316	0.952	P	0.57911	0.829	T	0.74572	-0.3621	10	0.62326	D	0.03	-16.6373	12.8954	0.58095	0.8641:0.1359:0.0:0.0	.	641	Q9C0E2	XPO4_HUMAN	L	641;511;641	ENSP00000383444:F641L;ENSP00000255305:F641L	ENSP00000255305:F641L	F	-	1	0	XPO4	20273026	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.855000	0.92236	0.954000	0.37851	-0.316000	0.08728	TTT		TCGA-IB-AAUR-01A-21D-A38G-08	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	0	0	0	10	713	0	270	1	2.258422e-02	2	13	0	270	2		0	0	0	0	0	2	1	0.996606	10	700	0	268	2		0	0	0	0	270	2	-3.320403	1	1	0	0		1	0	1	1	1.986619	0	0.180000	2.010000	0.174801	0.150000	0.070000	0.270000	0.150000	0.166428	0.150000	0	0.110000	0.210000
ACOT4	122970	broad.mit.edu	37	14	74058829	74058829	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:74058829G>A	ENST00000326303.4	+	1	420	c.166G>A	c.(166-168)Gcc>Acc	p.A56T		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4			8					CTGCGCCGACGCCCGCGGCGA	0.771000																								0							SO:0001583	missense			ENST00000326303.4	0	1	hg19	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	8.751	0.921355	0.17982	.	.	ENSG00000177465	ENST00000326303	T	0.70869	-0.52	4.93	1.98	0.26296	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.977348	0.08421	N	0.948373	T	0.53642	0.1809	L	0.27975	0.815	0.21355	N	0.999717	B	0.12013	0.005	B	0.04013	0.001	T	0.35176	-0.9799	10	0.25106	T	0.35	-7.8875	5.3086	0.15817	0.2258:0.0:0.6288:0.1454	.	56	Q8N9L9	ACOT4_HUMAN	T	56	ENSP00000323071:A56T	ENSP00000323071:A56T	A	+	1	0	ACOT4	73128582	0.000000	0.05858	0.174000	0.22961	0.010000	0.07245	0.021000	0.13489	0.179000	0.19938	-0.448000	0.05591	GCC		TCGA-IB-AAUR-01A-21D-A38G-08	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	0	0	0	3	27	0	11		0	0	0	0	11	2		0	0	0	0	0	2	1	0.777512	3	24	0	11	2		0	0	0	0	11	2	-8.755823	1	1	0	0		1	1	2	3	2.005844	0	0.180000	2.010000	0.184404	0.990000	0.350000	1.000000	1.000000	0.881897	0.990000	1	0.660000	1.000000
CCDC88C	440193	broad.mit.edu	37	14	91791261	91791261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:91791261C>T	ENST00000389857.6	-	12	1290	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C			24		all_cancers(154;0.0468)			TTATCTGTGTCCCGGTCCTGG	0.542000																								0							SO:0001583	missense			ENST00000389857.6	0	1	hg19	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022353	0.93462	.	.	ENSG00000015133	ENST00000389857	T	0.57436	0.4	5.76	5.76	0.90799	.	0.000000	0.51477	U	0.000096	T	0.74756	0.3758	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78209	-0.2293	10	0.72032	D	0.01	-45.0551	14.7623	0.69614	0.1445:0.8555:0.0:0.0	.	402	Q9P219	DAPLE_HUMAN	N	402	ENSP00000374507:D402N	ENSP00000374507:D402N	D	-	1	0	CCDC88C	90861014	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.568000	0.67385	2.728000	0.93425	0.555000	0.69702	GAC		TCGA-IB-AAUR-01A-21D-A38G-08	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	0	0	0	5	259	0	92	1	2.224399e-01	3	36	0	92	2		0	0	0	0	0	2	1	0.935597	5	255	0	91	2		0	0	0	0	92	2	-6.103509	1	1	0	0		1	1	2	3	2.005844	0	0.180000	2.010000	0.184404	0.230000	0.080000	1.000000	0.210000	0.283103	0.230000	0	0.140000	0.370000
MGA	23269	broad.mit.edu	37	15	42041764	42041764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:42041764G>T	ENST00000570161.1	+	16	5959	c.5959G>T	c.(5959-5961)Gag>Tag	p.E1987*	MGA_ENST00000545763.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E1948*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000219905.7_Nonsense_Mutation_p.E1987*			O43451	MGA_HUMAN	MGA, MAX dimerization protein			95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATAAAAAGAGAGCAAGAAAC	0.428000																								0							SO:0001587	stop_gained			ENST00000570161.1	0	1	hg19	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011840	0.75046	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	4.89	2.96	0.34315	.	0.000000	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	5.9914	0.19465	0.1012:0.1952:0.7036:0.0	.	.	.	.	X	1987;1948;1778	.	ENSP00000219905:E1987X	E	+	1	0	MGA	39829056	1.000000	0.71417	0.994000	0.49952	0.636000	0.38137	2.731000	0.47343	1.383000	0.46405	0.563000	0.77884	GAG		TCGA-IB-AAUR-01A-21D-A38G-08	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	0	0	0	5	268	0	110	0	1.742258e-02	0	9	0	110	2		0	0	0	0	0	2	1	0.934398	5	262	0	110	2		0	0	0	0	110	2	-3.221538	1	1	0	0		1	1	2	3	1.999302	0	0.180000	2.010000	0.182941	0.220000	0.080000	1.000000	0.200000	0.261226	0.220000	0	0.140000	0.350000
NARG2	0	broad.mit.edu	37	15	60720749	60720749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:60720749G>A	ENST00000261520.4	-	15	2933	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	NARG2_ENST00000439632.1_Missense_Mutation_p.S763F	NM_024611.4	NP_078887.2						32					TGAGAGACTGGAAGGTACACC	0.423000																								0							SO:0001583	missense			ENST00000261520.4	0	1	hg19	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467917	0.84533	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.96	5.96	0.96718	NMDA receptor-regulated gene protein 2 (1);	0.305688	0.36374	N	0.002621	T	0.67757	0.2927	L	0.44542	1.39	0.34937	D	0.749928	D	0.54397	0.966	P	0.58331	0.837	T	0.74945	-0.3491	9	0.87932	D	0	-3.8481	18.5997	0.91244	0.0:0.0:1.0:0.0	.	900	Q659A1	NARG2_HUMAN	F	900;763	.	ENSP00000261520:S900F	S	-	2	0	NARG2	58508041	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	6.152000	0.71812	2.831000	0.97527	0.650000	0.86243	TCC		TCGA-IB-AAUR-01A-21D-A38G-08	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	0	0	0	7	280	0	128	1	5.861910e-01	6	69	0	128	2		0	0	0	0	0	2	1	0.979455	7	274	0	125	2		0	0	0	0	128	2	-8.056598	1	1	0	0		1	1	2	3	1.999302	0	0.180000	2.010000	0.182941	0.290000	0.120000	1.000000	0.270000	0.323931	0.290000	0	0.190000	0.420000
ADAMTSL3	57188	broad.mit.edu	37	15	84651305	84651305	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:84651305C>T	ENST00000286744.5	+	21	3149	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	ADAMTSL3_ENST00000567476.1_Silent_p.P975P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3			130			BRCA - Breast invasive adenocarcinoma(143;0.211)		TTGCTGCCCCCGACATCGGCG	0.567000																								0							SO:0001819	synonymous_variant			ENST00000286744.5	1	1	hg19	CCDS10326.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	0	0	0	14	398	0	157	0	1.396892e-03	0	2	0	157	2		0	0	0	0	0	2	1	0.999725	13	390	0	157	2		0	0	0	0	157	2	-2.412163	0	1	0	0		1	1	2	3	1.999302	0	0.180000	2.010000	0.182941	0.390000	0.220000	1.000000	0.370000	0.416937	0.390000	0	0.290000	0.510000
IGF1R	3480	broad.mit.edu	37	15	99454671	99454671	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:99454671G>A	ENST00000268035.6	+	7	2200		c.e7+1		IGF1R_ENST00000558762.1_Splice_Site	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor			63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)	"""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"	ACAAGGAAGCGTGAGTTTCTG	0.537000																								0							SO:0001630	splice_region_variant			ENST00000268035.6	1	1	hg19	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005527	0.93287	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGF1R	97272194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.778000	0.99011	2.837000	0.97791	0.655000	0.94253	.		TCGA-IB-AAUR-01A-21D-A38G-08	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	0	0	0	9	347	0	157	0	0	1	0	0	157	2		0	0	0	0	0	2	1	0.993585	9	339	0	156	2		0	0	0	0	157	2	-3.167142	1	1	121412	2	34	1	1	2	3	1.999302	0	0.180000	2.010000	0.182941	0.290000	0.140000	1.000000	0.280000	0.327517	0.290000	0	0.200000	0.410000
ITGAD	3681	broad.mit.edu	37	16	31409124	31409124	+	Silent	SNP	C	C	T	rs12922480		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:31409124C>T	ENST00000389202.2	+	5	370	c.321C>T	c.(319-321)ggC>ggT	p.G107G		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D			71					AGGCCTGTGGCCCGACCCTGC	0.657000																								0							SO:0001819	synonymous_variant			ENST00000389202.2	0	1	hg19	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671698	0.29693	.	.	ENSG00000156886	ENST00000316569	.	.	.	4.19	-0.494	0.12034	.	.	.	.	.	T	0.29914	0.0748	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09314	-1.0680	5	0.11182	T	0.66	.	2.1072	0.03694	0.1557:0.4917:0.153:0.1996	.	.	.	.	V	15	.	ENSP00000323325:A15V	A	+	2	0	ITGAD	31316625	0.950000	0.32346	0.969000	0.41365	0.636000	0.38137	-0.193000	0.09573	0.131000	0.18576	-0.136000	0.14681	GCC		TCGA-IB-AAUR-01A-21D-A38G-08	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	0	0	0	4	178	0	59	0	0	0	1	0	59	2		0	0	0	0	0	2	1	0.887359	4	175	0	59	2		0	0	0	0	59	2	-3.588737	1	1	0	0		1	1	2	3	2.005912	0	0.180000	2.010000	0.184404	0.280000	0.090000	1.000000	0.240000	0.329271	0.280000	0	0.160000	0.450000
PPL	5493	broad.mit.edu	37	16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin			62					GGGTCTGGCCGCACGATCTCC	0.627000																								0							SO:0001583	missense			ENST00000345988.2	0	1	hg19	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222315	0.79464	.	.	ENSG00000118898	ENST00000345988	T	0.56941	0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76473	-0.2946	10	0.87932	D	0	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1179	O60437	PEPL_HUMAN	W	1179	ENSP00000340510:R1179W	ENSP00000340510:R1179W	R	-	1	2	PPL	4875122	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.493000	0.66899	2.677000	0.91161	0.561000	0.74099	CGG		TCGA-IB-AAUR-01A-21D-A38G-08	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	0	0	0	5	402	0	178	0	2.022539e-01	0	56	0	178	2		0	0	0	0	0	2	1	0.935859	5	397	0	176	2		0	0	0	0	178	2	-2.417390	0	1	0	0		1	1	2	3	2.016558	0	0.180000	2.010000	0.186589	0.150000	0.050000	1.000000	0.140000	0.223463	0.150000	0	0.090000	0.250000
CDH11	1009	broad.mit.edu	37	16	64981668	64981668	+	Silent	SNP	G	G	A	rs145843219	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:64981668G>A	ENST00000268603.4	-	13	2844	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y	CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.Y617Y	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)			88		Ovarian(137;0.0973)			CTTCATAACCGTAGATTTGAA	0.537000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)					Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0							SO:0001819	synonymous_variant			ENST00000268603.4	0	1	hg19	CCDS10803.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	0	0	0	10	449	0	155	0	9.256557e-01	0	205	0	155	2		0	0	0	0	0	2	1	0.996549	10	438	0	153	2		0	0	0	0	155	2	-3.055596	1	1	121412	92	53	1	1	2	3	2.005912	0	0.180000	2.010000	0.184404	0.250000	0.120000	1.000000	0.240000	0.298561	0.250000	0	0.180000	0.360000
GPR179	440435	broad.mit.edu	37	17	36491506	36491506	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:36491506G>A	ENST00000342292.4	-	6	1394	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179			60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)			TGCCGTAGACGATGGCAAAAC	0.547000																								0							SO:0001819	synonymous_variant			ENST00000342292.4	0	1	hg19	CCDS42308.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2	0	0	0	4	231	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	0.889116	4	229	0	84	2		0	0	0	0	85	2	-5.250736	1	1	0	0		1	1	2	3	2.006374	0	0.180000	2.010000	0.184404	0.210000	0.070000	1.000000	0.190000	0.267364	0.210000	0	0.120000	0.350000
KRT25	147183	broad.mit.edu	37	17	38907438	38907438	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38907438C>T	ENST00000312150.4	-	4	870	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_181534.3	NP_853512.1			keratin 25			16		Breast(137;0.00526)			ACCAGGCCTCCGCGTCCCTGC	0.532000																								0							SO:0001819	synonymous_variant			ENST00000312150.4	0	1	hg19	CCDS11373.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	0	0	0	5	291	0	121		0	0	0	0	121	2		0	0	0	0	0	2	1	0.936946	5	289	0	121	2		0	0	0	0	121	2	-3.224497	1	1	0	0		1	1	2	3	2.006374	0	0.180000	2.010000	0.184404	0.210000	0.070000	1.000000	0.190000	0.258131	0.210000	0	0.130000	0.330000
HDAC5	10014	broad.mit.edu	37	17	42157539	42157539	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:42157539G>A	ENST00000393622.2	-	23	3211	c.2880C>T	c.(2878-2880)tcC>tcT	p.S960S	HDAC5_ENST00000225983.6_Silent_p.S961S|HDAC5_ENST00000336057.5_Silent_p.S875S|HDAC5_ENST00000586802.1_Silent_p.S960S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5			21		Breast(137;0.00637)|Prostate(33;0.0313)			CAAACCCGGCGGAGACTAGGA	0.577000																								0							SO:0001819	synonymous_variant			ENST00000393622.2	0	1	hg19	CCDS45696.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	0	0	0	4	201	0	71	1	8.531890e-01	12	166	0	71	2		0	0	0	0	0	2	1	0.884128	4	195	0	71	2		0	0	0	0	71	2	-3.601169	1	1	0	0		1	1	2	3	2.006374	0	0.180000	2.010000	0.184404	0.240000	0.080000	1.000000	0.210000	0.298603	0.240000	0	0.140000	0.400000
CCDC47	57003	broad.mit.edu	37	17	61833870	61833870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:61833870G>A	ENST00000225726.5	-	7	1178	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	CCDC47_ENST00000582252.1_Missense_Mutation_p.R266W|CCDC47_ENST00000403162.3_Missense_Mutation_p.R266W	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47			18					AAGGCTTTCCGTGTGCCAACA	0.378000																								0							SO:0001583	missense			ENST00000225726.5	0	1	hg19	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054915	0.36277	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.77	5.77	0.91146	.	0.052964	0.64402	D	0.000001	T	0.69396	0.3106	L	0.52573	1.65	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	P;D	0.66084	0.859;0.941	T	0.71087	-0.4694	9	0.87932	D	0	-10.161	14.4629	0.67465	0.0:0.0:0.8437:0.1562	.	266;266	Q96A33-2;Q96A33	.;CCD47_HUMAN	W	266	.	ENSP00000225726:R266W	R	-	1	2	CCDC47	59187602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.753000	0.55180	2.730000	0.93505	0.655000	0.94253	CGG		TCGA-IB-AAUR-01A-21D-A38G-08	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	0	0	0	5	439	0	193	1	6.250828e-01	13	159	0	193	2		0	0	0	0	0	2	1	0.933267	5	427	0	190	2		0	0	0	0	193	2	-2.688071	1	0	121412	3	35	1	1	2	3	2.002225	0	0.180000	2.010000	0.183673	0.130000	0.040000	1.000000	0.120000	0.180978	0.130000	0	0.080000	0.220000
CACNG4	27092	broad.mit.edu	37	17	65021069	65021069	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65021069G>A	ENST00000262138.3	+	3	400	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4			19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		ATCTACAGCCGCAAGAACAAC	0.672000																								0							SO:0001583	missense			ENST00000262138.3	0	1	hg19	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668071	0.47677	.	.	ENSG00000075461	ENST00000262138	D	0.88664	-2.41	4.81	3.83	0.44106	.	0.294943	0.41097	D	0.000949	T	0.80486	0.4632	N	0.16368	0.405	0.40796	D	0.983295	P	0.49961	0.93	B	0.40741	0.339	T	0.80165	-0.1496	10	0.32370	T	0.25	-3.4274	15.337	0.74266	0.0:0.1405:0.8595:0.0	.	133	Q9UBN1	CCG4_HUMAN	H	133	ENSP00000262138:R133H	ENSP00000262138:R133H	R	+	2	0	CACNG4	62451531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.572000	0.36461	1.136000	0.42199	0.561000	0.74099	CGC		TCGA-IB-AAUR-01A-21D-A38G-08	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	0	0	0	5	329	0	131	0	1.088772e-03	0	3	0	131	2		0	0	0	0	0	2	1	0.933948	5	322	0	131	2		0	0	0	0	131	2	-2.425944	0	1	121412	2	38	1	1	2	3	2.002225	0	0.180000	2.010000	0.183673	0.180000	0.060000	1.000000	0.160000	0.227167	0.180000	0	0.110000	0.290000
BPTF	2186	broad.mit.edu	37	17	65882284	65882284	+	Silent	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65882284T>C	ENST00000321892.4	+	6	2155	c.2094T>C	c.(2092-2094)gcT>gcC	p.A698A	BPTF_ENST00000335221.5_Silent_p.A698A|BPTF_ENST00000424123.3_Silent_p.A559A|BPTF_ENST00000306378.6_Intron			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor			78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		ACACTAGTGCTACCACTACCT	0.383000																								0							SO:0001819	synonymous_variant			ENST00000321892.4	1	1	hg19																																																																																					TCGA-IB-AAUR-01A-21D-A38G-08	BPTF-201	KNOWN	basic	protein_coding	protein_coding		0	0	0	16	494	0	209	0	7.918387e-02	0	14	0	209	2		0	0	0	0	0	2	1	0.999926	16	486	0	208	2		0	0	0	0	209	2	-3.453258	1	1	0	0		1	1	2	3	2.002225	0	0.180000	2.010000	0.183673	0.360000	0.210000	1.000000	0.350000	0.391386	0.360000	0	0.270000	0.470000
TTYH2	94015	broad.mit.edu	37	17	72248384	72248384	+	Silent	SNP	C	C	T	rs139944691		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:72248384C>T	ENST00000269346.4	+	11	1202	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	TTYH2_ENST00000441391.2_Silent_p.D55D|TTYH2_ENST00000529107.1_Silent_p.D355D	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2			36					ATTATCTGGACGCTCTTGCTG	0.622000																								0							SO:0001819	synonymous_variant			ENST00000269346.4	0	1	hg19	CCDS32717.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1	0	0	0	5	438	0	173	0	6.270494e-02	0	29	0	173	2		0	0	0	0	0	2	1	0.934061	6	427	0	172	2		0	0	0	0	173	2	-2.964025	1	1	121412	4	41	1	1	2	3	2.002225	0	0.180000	2.010000	0.183673	0.130000	0.040000	1.000000	0.120000	0.181297	0.130000	0	0.080000	0.220000
AANAT	15	broad.mit.edu	37	17	74464914	74464914	+	Missense_Mutation	SNP	G	G	A	rs141006262	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:74464914G>A	ENST00000392492.3	+	2	320	c.86G>A	c.(85-87)cGc>cAc	p.R29H	AANAT_ENST00000250615.3_Missense_Mutation_p.R74H	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase			1					TGTCAGCGGCGCCACACACTC	0.662000																								0							SO:0001583	missense			ENST00000392492.3	0	1	hg19	CCDS11745.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	22.0	4.226616	0.79576	0.003177	0.0	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.55930	0.49;0.6	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79429	-0.1807	10	0.72032	D	0.01	-6.0846	16.7956	0.85601	0.0:0.0:1.0:0.0	.	29	Q16613	SNAT_HUMAN	H	74;29	ENSP00000250615:R74H;ENSP00000376282:R29H	ENSP00000250615:R74H	R	+	2	0	AANAT	71976509	1.000000	0.71417	0.987000	0.45799	0.752000	0.42762	9.117000	0.94347	1.942000	0.56320	0.462000	0.41574	CGC		TCGA-IB-AAUR-01A-21D-A38G-08	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	0	0	0	4	161	0	74	0	3.119290e-03	0	3	0	74	2		0	0	0	0	0	2	1	0.886995	4	158	0	73	2		0	0	0	0	74	2	-6.113579	1	1	0	0		1	1	2	3	2.002225	0	0.180000	2.010000	0.183673	0.300000	0.100000	1.000000	0.270000	0.350812	0.300000	0	0.180000	0.490000
SMAD4	4089	broad.mit.edu	37	18	48591901	48591901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:48591901A>G	ENST00000342988.3	+	9	1602	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	SMAD4_ENST00000588745.1_Missense_Mutation_p.D259G|SMAD4_ENST00000398417.2_Missense_Mutation_p.D355G	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)			GGATACGTGGACCCTTCTGGA	0.428000																								41	Whole gene deletion(36)|Substitution - Missense(3)|Unknown(2)						SO:0001583	missense			ENST00000342988.3	1	1	hg19	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.016245	0.93404	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98060	-4.69;-4.69	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	355	Q13485	SMAD4_HUMAN	G	355	ENSP00000341551:D355G;ENSP00000381452:D355G	ENSP00000341551:D355G	D	+	2	0	SMAD4	46845899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAC		TCGA-IB-AAUR-01A-21D-A38G-08	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	0	0	18	412	0	201	1	6.243859e-01	4	45	0	201	2	1	1	25	1163	0	938	2	1	0.999979	18	403	0	201	2		0	0	0	0	201	2	-4.335683	1	1	0	0		1	0	0	0	1.980701	0	0.180000	2.010000	0.169536	0.460000	0.280000	0.690000	0.450000	0.477039	0.460000	0	0.360000	0.580000
SLC27A1	376497	broad.mit.edu	37	19	17611112	17611112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:17611112G>A	ENST00000252595.7	+	8	1329	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	SLC27A1_ENST00000598424.1_Missense_Mutation_p.R232H|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R411H	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1			23					TTCAACAGCCGCATCCTGCCC	0.612000																								0							SO:0001583	missense			ENST00000252595.7	0	1	hg19	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.49432	0.78;0.78	4.55	2.24	0.28232	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.84511	2.7	0.58432	D	0.999997	B;P	0.38455	0.211;0.632	B;B	0.37989	0.117;0.262	T	0.34625	-0.9821	10	0.15952	T	0.53	-4.3707	6.518	0.22258	0.1:0.0:0.7209:0.179	.	232;411	B7Z662;Q6PCB7	.;S27A1_HUMAN	H	411	ENSP00000413424:R411H;ENSP00000252595:R411H	ENSP00000252595:R411H	R	+	2	0	SLC27A1	17472112	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.243000	0.78219	0.898000	0.36418	0.555000	0.69702	CGC		TCGA-IB-AAUR-01A-21D-A38G-08	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	0	0	0	6	318	0	117	0	2.148430e-01	0	40	0	117	2		0	0	0	0	0	2	1	0.963986	7	313	0	116	2		0	0	0	0	117	2	-2.409692	0	1	0	0		1	1	2	3	2.019462	0	0.180000	2.010000	0.187314	0.230000	0.090000	1.000000	0.210000	0.299201	0.230000	0	0.140000	0.370000
TFPT	29844	broad.mit.edu	37	19	54617951	54617951	+	Silent	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:54617951A>G	ENST00000391759.1	-	2	558	c.153T>C	c.(151-153)ggT>ggC	p.G51G	TFPT_ENST00000391758.1_Silent_p.G42G|PRPF31_ENST00000419967.1_5'Flank|PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391757.1_Silent_p.G51G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)			4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				AGCCGCCCAGACCACCTGACA	0.637000			T	TCF3	pre-B ALL										Dom	yes		19	19q13	29844	TCF3 (E2A) fusion partner (in childhood Leukemia)		L	0							SO:0001819	synonymous_variant			ENST00000391759.1	0	1	hg19	CCDS12878.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	0	0	1	14	865	0	315	1	4.454979e-01	9	80	0	315	2		0	0	0	0	0	2	1	0.999689	13	838	0	310	2		0	0	0	0	315	2	-3.020231	1	0	0	0		1	1	2	3	2.019462	0	0.180000	2.010000	0.187314	0.180000	0.100000	1.000000	0.180000	0.255476	0.180000	0	0.130000	0.260000
MCOLN1	57192	broad.mit.edu	37	19	7591452	7591452	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:7591452G>A	ENST00000264079.6	+	3	490	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	p.R122L(1)		18					GCCTACACGCGGGAGCAGCTG	0.652000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000264079.6	1	1	hg19	CCDS12180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.949|6.949	0.544986|0.544986	0.13312|0.13312	0.0|0.0	1.16E-4|1.16E-4	ENSG00000090674|ENSG00000090674	ENST00000394321|ENST00000264079	.|T	.|0.44083	.|0.93	5.48|5.48	-4.19|-4.19	0.03835|0.03835	.|.	.|0.427403	.|0.27636	.|N	.|0.018482	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.00275|0.00275	-1.725|-1.725	0.24373|0.24373	N|N	0.994821|0.994821	B|B	0.15473|0.02656	0.013|0.0	B|B	0.09377|0.04013	0.004|0.001	T|T	0.42548|0.42548	-0.9445|-0.9445	8|10	0.87932|0.07325	D|T	0|0.83	.|.	11.4747|11.4747	0.50291|0.50291	0.7257:0.0:0.2743:0.0|0.7257:0.0:0.2743:0.0	.|.	9|122	Q9GZU1-2|Q9GZU1	.|MCLN1_HUMAN	R|Q	9|122	.|ENSP00000264079:R122Q	ENSP00000377856:G9R|ENSP00000264079:R122Q	G|R	+|+	1|2	0|0	MCOLN1|MCOLN1	7497452|7497452	1.000000|1.000000	0.71417|0.71417	0.649000|0.649000	0.29536|0.29536	0.893000|0.893000	0.52053|0.52053	3.092000|3.092000	0.50207|0.50207	-0.447000|-0.447000	0.07138|0.07138	-1.631000|-1.631000	0.00782|0.00782	GGG|CGG		TCGA-IB-AAUR-01A-21D-A38G-08	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	0	0	0	9	318	0	151	1	4.764240e-01	2	52	0	151	2		0	0	0	0	0	2	1	0.993974	9	313	0	148	2		0	0	0	0	151	2	-2.407401	0	1	121412	12	42	1	1	2	3	2.019462	0	0.180000	2.010000	0.187314	0.330000	0.150000	1.000000	0.300000	0.389952	0.330000	0	0.230000	0.490000
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					TCATGGAAAAAGGGATAGCTG	0.522000																								0							SO:0001819	synonymous_variant			ENST00000397910.4	0	1	hg19	CCDS54212.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	0	0	7	321	0	124	0	0	0	1	0	124	2		0	0	0	0	0	2	1	0.980034	7	317	0	124	2		0	0	0	0	124	2	-2.335865	0	1	0	0		1	1	2	3	2.019462	0	0.180000	2.010000	0.187314	0.260000	0.110000	1.000000	0.230000	0.327403	0.260000	0	0.170000	0.400000
FAM63A	55793	broad.mit.edu	37	1	150971955	150971955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:150971955C>T	ENST00000361936.5	-	8	1825	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	FAM63A_ENST00000493834.2_Missense_Mutation_p.A196T|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000312210.5_Missense_Mutation_p.A149T|FAM63A_ENST00000361738.6_Missense_Mutation_p.A339T	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A			23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		AGCTGGGCCGCGGTGGTCTCC	0.547000																								0							SO:0001583	missense			ENST00000361936.5	1	1	hg19	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556802	0.96514	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.54675	0.63;0.6;0.56;0.66	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.944;0.997	T	0.72846	-0.4169	10	0.56958	D	0.05	-20.127	16.156	0.81666	0.0:1.0:0.0:0.0	.	339;291	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	T	149;291;339;196	ENSP00000310923:A149T;ENSP00000354814:A291T;ENSP00000354669:A339T;ENSP00000437174:A196T	ENSP00000310923:A149T	A	-	1	0	FAM63A	149238579	1.000000	0.71417	0.141000	0.22245	0.816000	0.46133	7.540000	0.82074	2.687000	0.91594	0.655000	0.94253	GCG		TCGA-IB-AAUR-01A-21D-A38G-08	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	0	0	1	16	674	0	277	1	5.249932e-01	9	64	0	277	2		0	0	0	0	0	2	1	0.999916	16	657	0	277	2		0	0	0	0	277	2	-2.773110	1	1	121412	2	40	1	1	2	3	2.077547	0	0.180000	2.010000	0.198749	0.280000	0.160000	1.000000	0.270000	0.410853	0.280000	0	0.210000	1.000000
GATAD2B	57459	broad.mit.edu	37	1	153800794	153800794	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:153800794G>A	ENST00000368655.4	-	2	273	c.30C>T	c.(28-30)cgC>cgT	p.R10R		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B			38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		ACAGATTCAAGCGAAGAGCAT	0.433000																								0							SO:0001819	synonymous_variant			ENST00000368655.4	1	1	hg19	CCDS1054.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	1	0	0	37	515	0	225	1	4.931043e-01	4	20	0	225	2		0	0	0	0	0	2	1	1.000000	38	507	0	224	2		0	0	0	0	225	2	-8.740922	1	1	0	0		1	1	2	3	2.077547	0	0.180000	2.010000	0.198749	0.790000	0.550000	1.000000	1.000000	0.814031	0.790000	0	0.660000	1.000000
TTC13	79573	broad.mit.edu	37	1	231090100	231090100	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:231090100C>T	ENST00000366661.4	-	4	499	c.492G>A	c.(490-492)cgG>cgA	p.R164R	TTC13_ENST00000366662.4_Silent_p.R164R|TTC13_ENST00000414259.1_Silent_p.R164R	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13			39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)			TTGAAAAATGCCGTATTGCTT	0.308000																								0							SO:0001819	synonymous_variant			ENST00000366661.4	0	1	hg19	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201847	0.22121	.	.	ENSG00000143643	ENST00000522821	.	.	.	5.56	-0.919	0.10478	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54316	-0.8312	4	.	.	.	-2.1619	11.0157	0.47687	0.0:0.336:0.0:0.664	.	.	.	.	D	153	.	.	G	-	2	0	TTC13	229156723	0.983000	0.35010	0.997000	0.53966	0.988000	0.76386	-0.017000	0.12590	-0.096000	0.12329	-0.140000	0.14226	GGC		TCGA-IB-AAUR-01A-21D-A38G-08	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	0	0	0	4	232	0	96	0	2.018808e-02	0	10	0	96	2		0	0	0	0	0	2	1	0.890133	4	231	0	95	2		0	0	0	0	96	2	-3.103263	1	1	0	0		1	1	2	3	2.059666	0	0.180000	2.010000	0.195211	0.230000	0.070000	1.000000	0.200000	0.354437	0.230000	0	0.130000	0.610000
PCNXL2	80003	broad.mit.edu	37	1	233152748	233152748	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:233152748C>T	ENST00000258229.9	-	27	4992	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P	PCNXL2_ENST00000344698.2_Silent_p.P238P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)			86		all_cancers(173;0.0347)|Prostate(94;0.137)			CCTGGAGACACGGGACGTAGT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000258229.9	0	1	hg19	CCDS44335.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	0	0	0	10	401	0	172	0	4.125344e-02	1	11	0	172	2		0	0	0	0	0	2	1	0.996726	10	395	0	172	2		0	0	0	0	172	2	-3.318793	1	1	120890	3	36	1	1	2	3	2.059666	0	0.180000	2.010000	0.195211	0.300000	0.140000	1.000000	0.270000	0.409038	0.300000	0	0.210000	0.600000
ARID1A	8289	broad.mit.edu	37	1	27105586	27105586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:27105586G>T	ENST00000324856.7	+	20	5568	c.5197G>T	c.(5197-5199)Gag>Tag	p.E1733*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1350*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E61*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1516*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	p.E1733*(1)	ARID1A/MAST2_ENST00000361297(2)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			CATTTTAAAGGAGTATGAGGT	0.478000			Mis, N, F, S, D		clear cell ovarian carcinoma, RCC										Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)						SO:0001587	stop_gained			ENST00000324856.7	0	1	hg19	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.761334|9.761334	0.99257|0.99257	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74596	.|0.3737	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73119	.|-0.4083	.|4	0.49607|.	T|.	0.09|.	-13.7961|-13.7961	18.7335|18.7335	0.91744|0.91744	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	1733;1516;1350;61|629	.|.	ENSP00000320485:E1733X|.	E|G	+|+	1|2	0|0	ARID1A|ARID1A	26978173|26978173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.084000|9.084000	0.94076|0.94076	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAG|GGA		TCGA-IB-AAUR-01A-21D-A38G-08	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	0	0	0	19	875	0	368	1	6.845876e-01	3	106	0	368	2	1	9.999964e-01	18	969	0	715	2	1	0.999989	18	867	0	366	2		0	0	0	0	368	2	-2.219716	0	1	0	0		1	0	1	1	1.991961	0	0.180000	2.010000	0.175548	0.230000	0.140000	0.350000	0.230000	0.245380	0.230000	0	0.180000	0.300000
PTPRT	11122	broad.mit.edu	37	20	40827887	40827887	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:40827887G>A	ENST00000373187.1	-	16	2483	c.2484C>T	c.(2482-2484)aaC>aaT	p.N828N	PTPRT_ENST00000373198.4_Silent_p.N847N|PTPRT_ENST00000356100.2_Silent_p.N837N|PTPRT_ENST00000373184.1_Silent_p.N818N|PTPRT_ENST00000373201.1_Silent_p.N818N|PTPRT_ENST00000373190.1_Silent_p.N828N|PTPRT_ENST00000373193.3_Silent_p.N831N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T			176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)			TACTGAATCCGTTGACGTCCT	0.562000																								0							SO:0001819	synonymous_variant			ENST00000373187.1	1	1	hg19	CCDS42874.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	0	0	0	45	2210	0	1030	0	0	0	1	0	1030	2		0	0	0	0	0	2	1	1.000000	45	2171	0	1017	2		0	0	0	0	1030	2	-2.775573	1	1	121004	5	43	1	1	2	3	1.999930	0	0.180000	2.010000	0.182941	0.220000	0.150000	1.000000	0.220000	0.249076	0.220000	0	0.180000	0.260000
KRTAP21-1	337977	broad.mit.edu	37	21	32127654	32127654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr21:32127654C>T	ENST00000335093.3	-	1	92	c.43G>A	c.(43-45)Ggc>Agc	p.G15S		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	p.G15S(1)		7					cagccacagccggagccatag	0.537000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000335093.3	0	1	hg19	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910980	0.17833	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.17	3.26	0.37387	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.23739	N	0.996979	D	0.89917	1.0	D	0.75020	0.985	T	0.40813	-0.9543	7	0.45353	T	0.12	.	9.2597	0.37605	0.2151:0.7849:0.0:0.0	.	15	Q3LI58	KR211_HUMAN	S	15	.	ENSP00000335566:G15S	G	-	1	0	KRTAP21-1	31049525	0.000000	0.05858	0.906000	0.35671	0.230000	0.25150	-0.171000	0.09883	1.293000	0.44690	0.609000	0.83330	GGC		TCGA-IB-AAUR-01A-21D-A38G-08	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2	0	0	0	15	730	0	324		0	0	0	0	324	2		0	0	0	0	0	2	1	0.870646	13	711	1	320	10		0	0	0	0	324	2	-1.922110	0	1	121412	1	36	1	0	1	1	1.997522	0	0.180000	2.010000	0.177037	0.220000	0.120000	0.350000	0.220000	0.235654	0.220000	0	0.170000	0.290000
SH3BP1	23616	broad.mit.edu	37	22	38041378	38041378	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr22:38041378C>A	ENST00000357436.4	+	10	1098	c.785C>A	c.(784-786)tCc>tAc	p.S262Y	SH3BP1_ENST00000442465.2_Missense_Mutation_p.S262Y|SH3BP1_ENST00000599616.1_Missense_Mutation_p.S198Y|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.S262Y|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1			13	Melanoma(58;0.0574)				GCAGACCACTCCCCTTCGATG	0.652000																								0							SO:0001583	missense			ENST00000357436.4	0	1	hg19	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	7.442	0.640985	0.14386	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18502	2.27;2.21;2.31	5.16	-0.934	0.10428	Rho GTPase-activating protein domain (1);BAR (1);	0.691929	0.13789	N	0.362651	T	0.08044	0.0201	N	0.22421	0.69	0.19300	N	0.999975	B;P;P;P;P	0.39964	0.164;0.553;0.697;0.553;0.553	B;B;B;B;B	0.35510	0.159;0.13;0.204;0.067;0.13	T	0.23511	-1.0186	10	0.72032	D	0.01	.	2.2795	0.04111	0.1207:0.4325:0.2355:0.2113	.	262;176;198;262;176	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	Y	262;262;262;176	ENSP00000350018:S262Y;ENSP00000337213:S262Y;ENSP00000395126:S262Y	ENSP00000337213:S262Y	S	+	2	0	SH3BP1	36371324	0.000000	0.05858	0.999000	0.59377	0.000000	0.00434	-0.425000	0.07017	0.269000	0.21961	-0.258000	0.10820	TCC		TCGA-IB-AAUR-01A-21D-A38G-08	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	0	0	0	8	369	0	167	1	5.389624e-01	2	77	0	167	2		0	0	0	0	0	2	1	0.988591	8	361	0	163	2		0	0	0	0	167	2	-2.938081	1	1	0	0		1	1	2	3	2.005885	0	0.180000	2.010000	0.184404	0.250000	0.110000	1.000000	0.240000	0.296826	0.250000	0	0.170000	0.370000
PSD4	23550	broad.mit.edu	37	2	113940171	113940171	+	Silent	SNP	C	C	T	rs139939908		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:113940171C>T	ENST00000245796.6	+	2	333	c.138C>T	c.(136-138)ttC>ttT	p.F46F	PSD4_ENST00000441564.3_Silent_p.F46F|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4			29					CGGAGCCTTTCGAGGAGCAAA	0.602000																								0							SO:0001819	synonymous_variant			ENST00000245796.6	1	1	hg19	CCDS33276.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	0	0	0	6	248	0	123	1	8.387521e-01	3	137	0	123	2		0	0	0	0	0	2	1	0.961908	6	240	0	122	2		0	0	0	0	123	2	-3.525781	1	1	121412	2	33	1	1	2	3	2.000787	0	0.180000	2.010000	0.183673	0.280000	0.110000	1.000000	0.260000	0.326455	0.280000	0	0.180000	0.430000
CCDC93	54520	broad.mit.edu	37	2	118677965	118677965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:118677965C>T	ENST00000376300.2	-	24	1987	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.R616H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93			29					CTCGTTCTTGCGGCCCTCCTG	0.502000																								0							SO:0001583	missense			ENST00000376300.2	0	1	hg19	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696565	0.88830	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.65549	-0.16;-0.16	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.61703	1.905	0.48341	D	0.999637	D	0.71674	0.998	P	0.62560	0.904	T	0.74870	-0.3517	10	0.56958	D	0.05	-2.0325	13.8564	0.63529	0.0:1.0:0.0:0.0	.	617	Q567U6	CCD93_HUMAN	H	617;616	ENSP00000365477:R617H;ENSP00000324135:R616H	ENSP00000324135:R616H	R	-	2	0	CCDC93	118394435	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.073000	0.57570	2.629000	0.89072	0.591000	0.81541	CGC		TCGA-IB-AAUR-01A-21D-A38G-08	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	0	0	0	4	245	0	83	0	1.942808e-01	0	40	0	83	2		0	0	0	0	0	2	1	0.887263	4	241	0	81	2		0	0	0	0	83	2	-2.687265	1	1	0	0		1	1	2	3	2.006990	0	0.180000	2.010000	0.184404	0.200000	0.060000	1.000000	0.180000	0.255293	0.200000	0	0.120000	0.340000
GRB14	2888	broad.mit.edu	37	2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000497306.1_5'Flank|GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14			32					TTCTTCAACCGCAACTGAAAG	0.393000																								0							SO:0001583	missense			ENST00000263915.3	0	1	hg19	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400675	0.96030	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.39229	1.67;1.75;1.09	5.81	5.81	0.92471	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.68051	-0.5511	10	0.59425	D	0.04	-15.2997	20.0825	0.97783	0.0:0.0:1.0:0.0	.	312;399	B7Z7F9;Q14449	.;GRB14_HUMAN	V	399;312;354	ENSP00000263915:A399V;ENSP00000443699:A312V;ENSP00000416786:A354V	ENSP00000263915:A399V	A	-	2	0	GRB14	165062155	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCG		TCGA-IB-AAUR-01A-21D-A38G-08	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2	0	0	0	6	562	1	226	0	1.010837e-03	0	4	1	226	2		0	0	0	0	0	2	0	0.157955	6	556	1	223	11		0	0	0	1	226	2	-2.050894	0	1	121412	1	31	1	1	2	3	2.006990	0	0.180000	2.010000	0.184404	0.120000	0.040000	1.000000	0.120000	0.176693	0.120000	0	0.080000	0.200000
PLB1	151056	broad.mit.edu	37	2	28826861	28826861	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:28826861C>T	ENST00000327757.5	+	40	2847	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	PLB1_ENST00000422425.2_Missense_Mutation_p.R924W|PLB1_ENST00000541605.1_Intron	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1			69	Acute lymphoblastic leukemia(172;0.155)				TCTGACCCTGCGGGAGAACTC	0.607000																								0							SO:0001583	missense			ENST00000327757.5	0	1	hg19	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595327	0.66219	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.14144	2.53;2.53	5.42	-2.49	0.06403	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.806235	0.10925	N	0.618969	T	0.29061	0.0722	M	0.74881	2.28	0.21878	N	0.999492	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.12785	-1.0534	10	0.66056	D	0.02	-9.4276	4.5013	0.11865	0.5745:0.2231:0.1199:0.0825	.	924;935	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	W	935;924	ENSP00000330442:R935W;ENSP00000416440:R924W	ENSP00000330442:R935W	R	+	1	2	PLB1	28680365	0.000000	0.05858	0.022000	0.16811	0.993000	0.82548	-0.785000	0.04628	-0.179000	0.10654	0.555000	0.69702	CGG		TCGA-IB-AAUR-01A-21D-A38G-08	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2	0	0	0	4	218	0	77	0	3.425885e-03	0	4	0	77	2		0	0	0	0	0	2	1	0.879993	4	208	0	75	2		0	0	0	0	77	2	-3.895120	1	1	121412	7	38	1	1	2	3	2.000787	0	0.180000	2.010000	0.183673	0.220000	0.070000	1.000000	0.200000	0.272868	0.220000	0	0.130000	0.370000
PSME4	23198	broad.mit.edu	37	2	54176304	54176304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:54176304G>A	ENST00000404125.1	-	2	414	c.359C>T	c.(358-360)gCc>gTc	p.A120V	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4			60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		CAAAAGGCGGGCAAATCCCTG	0.358000																								0							SO:0001583	missense			ENST00000404125.1	0	1	hg19	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984407	0.93044	.	.	ENSG00000068878	ENST00000404125	T	0.06768	3.26	5.06	5.06	0.68205	.	0.170005	0.51477	D	0.000094	T	0.15392	0.0371	M	0.83223	2.63	0.80722	D	1	P	0.42078	0.77	B	0.37550	0.253	T	0.14117	-1.0484	10	0.23891	T	0.37	.	18.799	0.92008	0.0:0.0:1.0:0.0	.	120	Q14997	PSME4_HUMAN	V	120	ENSP00000384211:A120V	ENSP00000374643:A120V	A	-	2	0	PSME4	54029808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.882000	0.87258	2.494000	0.84150	0.655000	0.94253	GCC		TCGA-IB-AAUR-01A-21D-A38G-08	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	0	0	0	5	404	0	152	0	2.788575e-02	0	17	0	152	2		0	0	0	0	0	2	1	0.934184	5	395	0	151	2		0	0	0	0	152	2	-2.368921	0	1	0	0		1	1	2	3	2.000787	0	0.180000	2.010000	0.183673	0.150000	0.050000	1.000000	0.140000	0.193023	0.150000	0	0.090000	0.240000
ZBTB20	26137	broad.mit.edu	37	3	114070605	114070605	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:114070605G>A	ENST00000474710.1	-	4	498	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T34M|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T34M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T34M|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T34M	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	p.T34M(1)		48					GATGCGCACCGTTACGTCACA	0.602000													NSCLC(69;748 1344 9802 11203 30933)											1	Substitution - Missense(1)						SO:0001583	missense			ENST00000474710.1	0	1	hg19	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286334	0.80803	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.98	5.98	0.97165	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87050	0.2146	10	0.87932	D	0	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	107	Q9HC78	ZBT20_HUMAN	M	34;34;34;34;107;34;34;34	ENSP00000420324:T34M;ENSP00000377375:T34M;ENSP00000418092:T34M;ENSP00000419902:T34M;ENSP00000419153:T107M;ENSP00000349803:T34M;ENSP00000417307:T34M;ENSP00000420684:T34M	ENSP00000349803:T34M	T	-	2	0	ZBTB20	115553295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.843000	0.97960	0.650000	0.86243	ACG		TCGA-IB-AAUR-01A-21D-A38G-08	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	0	0	0	4	166	0	67	0	5.730284e-03	0	4	0	67	2		0	0	0	0	0	2	1	0.885654	4	162	0	67	2		0	0	0	0	67	2	-3.698915	1	1	0	0		1	0	1	1	1.997363	0	0.180000	2.010000	0.177037	0.280000	0.090000	0.600000	0.250000	0.313067	0.280000	0	0.170000	0.440000
MGLL	11343	broad.mit.edu	37	3	127413957	127413957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:127413957G>A	ENST00000434178.2	-	7	1543	c.647C>T	c.(646-648)gCc>gTc	p.A216V	MGLL_ENST00000398101.3_Missense_Mutation_p.A190V|MGLL_ENST00000453507.2_Missense_Mutation_p.A196V|MGLL_ENST00000398104.1_Missense_Mutation_p.A216V|MGLL_ENST00000265052.5_Missense_Mutation_p.A226V|MGLL_ENST00000476682.1_5'UTR			Q99685	MGLL_HUMAN	monoglyceride lipase			6					CCGTGAGACGGCATTCAGCAG	0.612000																								0							SO:0001583	missense			ENST00000434178.2	0	1	hg19	CCDS43148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.690146|4.690146	0.88735|0.88735	.|.	.|.	ENSG00000074416|ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000536024;ENST00000453507;ENST00000484451|ENST00000496306	T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73164|0.73164	0.3552|0.3552	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.76494|.	0.979;0.999;0.986;0.994|.	P;D;P;D|.	0.67548|.	0.751;0.952;0.789;0.923|.	T|T	0.72218|0.72218	-0.4357|-0.4357	10|5	0.31617|.	T|.	0.26|.	-40.9361|-40.9361	18.335|18.335	0.90285|0.90285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196;216;226;190|.	B7Z9D1;Q99685;B3KRC2;E7EWX8|.	.;MGLL_HUMAN;.;.|.	V|S	216;226;216;190;226;196;110|122	ENSP00000402798:A216V;ENSP00000265052:A226V;ENSP00000381176:A216V;ENSP00000381173:A190V;ENSP00000419340:A110V|.	ENSP00000265052:A226V|.	A|P	-|-	2|1	0|0	MGLL|MGLL	128896647|128896647	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.923000|0.923000	0.55619|0.55619	5.586000|5.586000	0.67503|0.67503	2.317000|2.317000	0.78254|0.78254	0.591000|0.591000	0.81541|0.81541	GCC|CCG		TCGA-IB-AAUR-01A-21D-A38G-08	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	0	0	0	5	263	1	107	0	8.607397e-02	0	94	1	107	5		0	0	0	0	0	2	0	0.142338	5	261	1	107	10		0	0	0	1	107	2	-2.446919	0	1	121046	1	29	1	0	1	1	1.997363	0	0.180000	2.010000	0.177037	0.220000	0.080000	0.450000	0.200000	0.241773	0.220000	0	0.140000	0.330000
MECOM	2122	broad.mit.edu	37	3	168818719	168818719	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:168818719T>C	ENST00000464456.1	-	10	3412	c.2212A>G	c.(2212-2214)Aac>Gac	p.N738D	MECOM_ENST00000472280.1_Missense_Mutation_p.N748D|MECOM_ENST00000392736.3_Missense_Mutation_p.N747D|MECOM_ENST00000460814.1_Missense_Mutation_p.N738D|MECOM_ENST00000494292.1_Missense_Mutation_p.N926D|MECOM_ENST00000433243.2_Missense_Mutation_p.N748D|MECOM_ENST00000264674.3_Missense_Mutation_p.N812D|MECOM_ENST00000468789.1_Missense_Mutation_p.N747D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus			85					CGTGTTAGGTTTGCAGACCTT	0.368000																								0							SO:0001583	missense			ENST00000464456.1	0	1	hg19	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301710	0.60195	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	N	0.16016	0.355	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.563;0.999;0.999;0.999	D;P;D;D;D	0.80764	0.993;0.502;0.994;0.988;0.981	T	0.14755	-1.0461	10	0.52906	T	0.07	-13.5136	15.7017	0.77547	0.0:0.0:0.0:1.0	.	935;739;926;812;747	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	812;747;738;748;926;747;738;748	ENSP00000264674:N812D;ENSP00000376493:N747D;ENSP00000419770:N738D;ENSP00000420048:N748D;ENSP00000417899:N926D;ENSP00000419995:N747D;ENSP00000420466:N738D;ENSP00000394302:N748D	ENSP00000264674:N812D	N	-	1	0	MECOM	170301413	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	AAC		TCGA-IB-AAUR-01A-21D-A38G-08	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	0	0	1	7	276	0	134	1	3.454613e-01	13	31	0	134	2		0	0	0	0	0	2	1	0.980721	7	275	0	134	2		0	0	0	0	134	2	-8.029375	1	1	0	0		1	0	1	1	1.997363	0	0.180000	2.010000	0.177037	0.280000	0.120000	0.520000	0.270000	0.305681	0.280000	0	0.190000	0.410000
PCYT1A	5130	broad.mit.edu	37	3	195966549	195966549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:195966549C>T	ENST00000292823.2	-	9	938	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	PCYT1A_ENST00000419333.1_Missense_Mutation_p.V256M|PCYT1A_ENST00000431016.1_Missense_Mutation_p.V256M	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha			18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	Choline(DB00122)|Lamivudine(DB00709)	TTTTCCTCCACATCTTTCACT	0.383000																								0							SO:0001583	missense			ENST00000292823.2	0	1	hg19	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187860	0.57909	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.65975	2.015	0.80722	D	1	D	0.54772	0.968	P	0.50231	0.635	T	0.72033	-0.4412	9	0.52906	T	0.07	-30.0716	19.545	0.95291	0.0:1.0:0.0:0.0	.	256	P49585	PCY1A_HUMAN	M	256;256;217;256;256	.	ENSP00000292823:V256M	V	-	1	0	PCYT1A	197450946	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GTG		TCGA-IB-AAUR-01A-21D-A38G-08	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	0	0	0	5	434	0	170	0	2.004673e-01	1	59	0	170	2		0	0	0	0	0	2	1	0.932402	5	420	0	167	2		0	0	0	0	170	2	-3.139812	1	1	0	0		1	0	1	1	1.997363	0	0.180000	2.010000	0.177037	0.130000	0.040000	0.280000	0.120000	0.149038	0.130000	0	0.080000	0.210000
CHDH	55349	broad.mit.edu	37	3	53852140	53852140	+	Silent	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:53852140C>A	ENST00000315251.6	-	9	1886	c.1449G>T	c.(1447-1449)ggG>ggT	p.G483G		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase			17		Hepatocellular(537;0.152)		Choline(DB00122)	GGAGCTCTTTCCCTCGGAACG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000315251.6	0	1	hg19	CCDS2873.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	0	0	0	6	315	0	153	0	3.915750e-02	0	14	0	153	2		0	0	0	0	0	2	0	0.286375	6	309	1	153	9		0	0	0	0	153	2	-4.046169	1	1	0	0		1	0	1	1	1.997363	0	0.180000	2.010000	0.177037	0.210000	0.080000	0.420000	0.200000	0.236467	0.210000	0	0.140000	0.320000
FAM107A	11170	broad.mit.edu	37	3	58555477	58555477	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:58555477G>A	ENST00000394481.1	-	3	669	c.111C>T	c.(109-111)ccC>ccT	p.P37P	FAM107A_ENST00000474531.1_Silent_p.P68P|FAM107A_ENST00000447756.2_Silent_p.P65P|FAM107A_ENST00000464064.1_Silent_p.P37P|RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000360997.2_Silent_p.P37P	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A			13					AGGCCTTCACGGGGTTCAGCA	0.622000																								0							SO:0001819	synonymous_variant			ENST00000394481.1	1	1	hg19	CCDS2892.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	0	0	0	8	304	1	149	0	1.422233e-01	0	67	1	149	4		0	0	0	0	0	2	0	0.491883	8	302	1	149	9		0	0	0	1	149	2	-2.359211	0	1	121410	2	34	1	0	1	1	1.997363	0	0.180000	2.010000	0.177037	0.290000	0.130000	0.520000	0.280000	0.312612	0.290000	0	0.200000	0.410000
ARAP3	64411	broad.mit.edu	37	5	141053229	141053229	+	Missense_Mutation	SNP	G	G	A	rs149350776		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:141053229G>A	ENST00000239440.4	-	5	910	c.845C>T	c.(844-846)aCg>aTg	p.T282M	ARAP3_ENST00000508305.1_Missense_Mutation_p.T204M|ARAP3_ENST00000513878.1_5'Flank	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3			53					GCGGTCTGCCGTGAAGGAGAA	0.607000																								0							SO:0001583	missense			ENST00000239440.4	0	1	hg19	CCDS4266.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.85	2.359944	0.41801	9.08E-4	0.0	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.18338	2.49;3.19;2.22	4.87	2.79	0.32731	.	0.832410	0.10688	N	0.645579	T	0.09423	0.0232	L	0.29908	0.895	0.80722	D	1	P;B	0.42584	0.784;0.154	B;B	0.33454	0.164;0.015	T	0.23154	-1.0196	10	0.32370	T	0.25	.	4.4043	0.11402	0.4754:0.0:0.5246:0.0	.	204;282	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	M	201;204;282;282	ENSP00000421826:T204M;ENSP00000239440:T282M;ENSP00000421148:T282M	ENSP00000239440:T282M	T	-	2	0	ARAP3	141033413	0.991000	0.36638	0.904000	0.35570	0.039000	0.13416	2.662000	0.46766	1.040000	0.40099	0.557000	0.71058	ACG		TCGA-IB-AAUR-01A-21D-A38G-08	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	0	0	0	11	558	1	223	0	1.774529e-01	0	36	1	223	2		0	0	0	0	0	2	1	0.556475	11	542	1	223	11		0	0	0	1	223	2	-2.424654	0	1	121412	27	48	1	1	2	3	1.999863	0	0.180000	2.010000	0.182941	0.220000	0.110000	1.000000	0.210000	0.254604	0.220000	0	0.160000	0.310000
NSD1	64324	broad.mit.edu	37	5	176687011	176687011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:176687011G>A	ENST00000439151.2	+	14	5033	c.4988G>A	c.(4987-4989)cGc>cAc	p.R1663H	NSD1_ENST00000361032.4_Missense_Mutation_p.R1560H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1394H|NSD1_ENST00000347982.4_Missense_Mutation_p.R1394H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1			96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)		CGCTGTGTCCGCTGTCCTGTG	0.418000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)					Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0							SO:0001583	missense	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	ENST00000439151.2	0	1	hg19	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530693	0.96446	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.68	5.68	0.88126	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000002	D	0.98065	0.9362	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98376	1.0556	10	0.72032	D	0.01	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	1394;1560;1663	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	1394;1663;1394;1560	ENSP00000346111:R1394H;ENSP00000395929:R1663H;ENSP00000343209:R1394H;ENSP00000354310:R1560H	ENSP00000343209:R1394H	R	+	2	0	NSD1	176619617	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	CGC		TCGA-IB-AAUR-01A-21D-A38G-08	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	0	0	0	6	591	1	232	0	4.007398e-02	0	26	1	232	2		0	0	0	0	0	2	0	0.156637	6	583	1	231	11		0	0	0	1	232	2	-2.074998	0	1	0	0		1	1	2	3	1.999863	0	0.180000	2.010000	0.182941	0.120000	0.040000	1.000000	0.110000	0.154403	0.120000	0	0.070000	0.180000
ZNF366	167465	broad.mit.edu	37	5	71756620	71756620	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:71756620T>C	ENST00000318442.5	-	2	1194	c.704A>G	c.(703-705)aAc>aGc	p.N235S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366			35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)			GATCTGCACGTTCACGTCCAC	0.632000																								0							SO:0001583	missense			ENST00000318442.5	1	1	hg19	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608532	0.46527	.	.	ENSG00000178175	ENST00000318442	T	0.08370	3.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	L	0.42686	1.345	0.47276	D	0.999379	P	0.43750	0.816	B	0.32762	0.152	T	0.12268	-1.0554	10	0.45353	T	0.12	-66.6731	16.3979	0.83621	0.0:0.0:0.0:1.0	.	235	Q8N895	ZN366_HUMAN	S	235	ENSP00000313158:N235S	ENSP00000313158:N235S	N	-	2	0	ZNF366	71792376	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.472000	0.53114	2.279000	0.76181	0.459000	0.35465	AAC		TCGA-IB-AAUR-01A-21D-A38G-08	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3	0	0	0	12	506	0	221	0	5.498849e-02	0	15	0	221	2		0	0	0	0	0	2	1	0.999046	12	499	0	221	2		0	0	0	0	221	2	-3.329295	1	1	0	0		1	1	2	3	1.998519	0	0.180000	2.010000	0.182941	0.260000	0.140000	1.000000	0.260000	0.297207	0.260000	0	0.190000	0.360000
ZDHHC14	79683	broad.mit.edu	37	6	158049518	158049518	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:158049518C>T	ENST00000359775.5	+	4	1592	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Splice_Site_p.R235C			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14			17		Breast(66;0.00586)|Ovarian(120;0.123)			CGTCATTCTTCGTAAGTATGC	0.328000																								0							SO:0001630	splice_region_variant			ENST00000359775.5	0	1	hg19	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874414	0.51695	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.24723	1.84;1.84	5.56	5.56	0.83823	.	0.470158	0.24506	N	0.037940	T	0.15955	0.0384	L	0.41824	1.3	0.80722	D	1	B;B;B	0.28419	0.211;0.211;0.111	B;B;B	0.31547	0.086;0.132;0.03	T	0.02933	-1.1092	10	0.35671	T	0.21	-6.7738	19.5349	0.95247	0.0:1.0:0.0:0.0	.	239;235;235	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	C	235;235;239	ENSP00000352821:R235C;ENSP00000410713:R235C	ENSP00000352821:R235C	R	+	1	0	ZDHHC14	157969506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.474000	0.53129	2.618000	0.88619	0.561000	0.74099	CGT		TCGA-IB-AAUR-01A-21D-A38G-08	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	0	0	0	39	1925	0	822	1	1.599057e-01	2	33	0	822	2		0	0	0	0	0	2	1	1.000000	39	1896	0	816	2		0	0	0	0	822	2	-2.278863	0	1	121412	2	34	1	0	1	1	1.994177	0	0.180000	2.010000	0.176293	0.210000	0.150000	0.290000	0.220000	0.224511	0.210000	0	0.180000	0.260000
PRSS16	10279	broad.mit.edu	37	6	27220639	27220639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27220639C>A	ENST00000230582.3	+	9	1076	c.1061C>A	c.(1060-1062)aCa>aAa	p.T354K	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.T97K	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)			26					CGAGCAGAGACAGTGGCACAG	0.498000													NSCLC(178;1118 2105 17078 23587 44429)											0							SO:0001583	missense			ENST00000230582.3	0	1	hg19	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.081016|4.081016	0.76528|0.76528	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000421826;ENST00000230582;ENST00000343467	.|T;T	.|0.14391	.|2.51;2.51	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	.|0.320491	.|0.32624	.|N	.|0.005844	T|T	0.23926|0.23926	0.0579|0.0579	M|M	0.68952|0.68952	2.095|2.095	0.39874|0.39874	D|D	0.973543|0.973543	.|P;D;D;D	.|0.65815	.|0.77;0.991;0.995;0.991	.|P;D;D;P	.|0.78314	.|0.481;0.991;0.91;0.812	T|T	0.01042|0.01042	-1.1471|-1.1471	6|10	0.56958|0.29301	D|T	0.05|0.29	-1.3456|-1.3456	14.8717|14.8717	0.70462|0.70462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;241;97;354	.|Q7Z5N6;C9JI59;F2Z2N5;Q9NQE7	.|.;.;.;TSSP_HUMAN	E|K	106;132|97;354;241	.|ENSP00000404349:T97K;ENSP00000230582:T354K	ENSP00000396589:D130E|ENSP00000230582:T354K	D|T	+|+	3|2	2|0	PRSS16|PRSS16	27328618|27328618	0.898000|0.898000	0.30612|0.30612	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.181000|1.181000	0.32017|0.32017	2.451000|2.451000	0.82905|0.82905	0.563000|0.563000	0.77884|0.77884	GAC|ACA		TCGA-IB-AAUR-01A-21D-A38G-08	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	0	0	0	10	474	0	191	1	1.773599e-02	4	5	0	191	2		0	0	0	0	0	2	1	0.996707	10	467	0	189	2		0	0	0	0	191	2	-3.286451	1	1	0	0		1	0	1	1	1.994177	0	0.180000	2.010000	0.176293	0.230000	0.110000	0.400000	0.230000	0.247941	0.230000	0	0.160000	0.320000
ZNF391	346157	broad.mit.edu	37	6	27369145	27369145	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27369145G>A	ENST00000244576.4	+	3	1541	c.996G>A	c.(994-996)ccG>ccA	p.P332P	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391			21					GGGAGAAGCCGTACAAATGTA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000244576.4	0	1	hg19	CCDS43429.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	0	0	0	5	344	1	141	0	1.978583e-03	0	4	1	141	2		0	0	0	0	0	2	0	0.135326	5	335	1	139	10		0	0	0	1	141	2	-2.654685	1	1	121012	1	29	1	0	1	1	1.994177	0	0.180000	2.010000	0.176293	0.170000	0.060000	0.340000	0.160000	0.186555	0.170000	0	0.100000	0.260000
TMEM30A	55754	broad.mit.edu	37	6	75974982	75974982	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:75974982C>G	ENST00000230461.6	-	3	747	c.418G>C	c.(418-420)Gat>Cat	p.D140H	TMEM30A_ENST00000475111.2_Missense_Mutation_p.D104H|TMEM30A_ENST00000370050.5_Missense_Mutation_p.D21H	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A			21					AGTTGACTATCATCTCGAGAT	0.313000																								0							SO:0001583	missense			ENST00000230461.6	0	1	hg19	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267513	0.95399	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111;ENST00000518161	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.986;0.995	T	0.81690	-0.0818	9	0.62326	D	0.03	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	104;140	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	H	140;124;21;104;21	.	ENSP00000230461:D140H	D	-	1	0	TMEM30A	76031702	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.719000	0.84751	2.850000	0.98022	0.650000	0.86243	GAT		TCGA-IB-AAUR-01A-21D-A38G-08	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	0	0	0	4	207	0	95	1	7.041787e-01	7	113	0	95	2		0	0	0	0	0	2	0	0.111631	4	198	1	95	9		0	0	0	0	95	2	-5.638578	1	1	0	0		1	0	1	1	1.994177	0	0.180000	2.010000	0.176293	0.230000	0.070000	0.490000	0.210000	0.253926	0.230000	0	0.140000	0.360000
UBN2	254048	broad.mit.edu	37	7	138969039	138969039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:138969039C>T	ENST00000473989.3	+	15	3388	c.3388C>T	c.(3388-3390)Ccc>Tcc	p.P1130S	UBN2_ENST00000288561.8_Missense_Mutation_p.P1047S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2			42					GAATTTATTGCCCTCTAGTCG	0.493000																								0							SO:0001583	missense			ENST00000473989.3	0	1	hg19	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027987	0.35797	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36157	1.38;1.27	5.51	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.36672	1.1	0.41266	D	0.986812	P	0.38677	0.642	B	0.40982	0.345	T	0.06075	-1.0847	10	0.27785	T	0.31	-0.8259	12.5763	0.56365	0.0:0.8615:0.0:0.1385	.	1130	Q6ZU65	UBN2_HUMAN	S	1130;1047	ENSP00000418648:P1130S;ENSP00000288561:P1047S	ENSP00000288561:P1047S	P	+	1	0	UBN2	138619579	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.045000	0.41250	1.473000	0.48159	-0.259000	0.10710	CCC		TCGA-IB-AAUR-01A-21D-A38G-08	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	0	0	0	4	252	0	110	0	1.426552e-02	0	9	0	110	2		0	0	0	0	0	2	1	0.885436	4	246	0	110	2		0	0	0	0	110	2	-4.101047	1	1	0	0		1	1	2	3	2.000639	0	0.180000	2.010000	0.183673	0.190000	0.060000	1.000000	0.170000	0.242462	0.190000	0	0.110000	0.320000
INMT	11185	broad.mit.edu	37	7	30795239	30795239	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:30795239G>A	ENST00000013222.5	+	3	580	c.564G>A	c.(562-564)aaG>aaA	p.K188K	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.K187K	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase			23					CACTGCTCAAGCCGGGTGGCC	0.627000																								0							SO:0001819	synonymous_variant			ENST00000013222.5	1	1	hg19	CCDS5430.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	0	0	0	13	347	0	137	0	6.886753e-01	1	63	0	137	2		0	0	0	0	0	2	1	0.999512	13	342	0	136	2		0	0	0	0	137	2	-13.329150	1	1	0	0		1	1	2	3	2.000639	0	0.180000	2.010000	0.183673	0.410000	0.230000	1.000000	0.400000	0.448115	0.410000	0	0.310000	0.560000
ADCY8	114	broad.mit.edu	37	8	132052268	132052268	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:132052268G>A	ENST00000286355.5	-	1	2404	c.312C>T	c.(310-312)tgC>tgT	p.C104C	ADCY8_ENST00000377928.3_Silent_p.C104C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)			134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)		CTTTGGTGCCGCAGGTGCTGT	0.731000										HNSCC(32;0.087)														0							SO:0001819	synonymous_variant			ENST00000286355.5	0	1	hg19	CCDS6363.1																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1	0	0	0	3	22	0	16		0	0	0	0	16	2		0	0	0	0	0	2	1	0.812891	3	22	0	15	2		0	0	0	0	16	2	-9.100845	1	1	117896	2	22	1	1	2	3	2.045996	0	0.180000	2.010000	0.192357	0.990000	0.420000	1.000000	1.000000	0.926897	0.990000	1	0.800000	1.000000
LPL	4023	broad.mit.edu	37	8	19811679	19811679	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:19811679G>A	ENST00000311322.8	+	5	1060	c.590G>A	c.(589-591)cGt>cAt	p.R197H		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase			36				AST-120(DB05269)|Tyloxapol(DB06439)	GCCCCGAGTCGTCTTTCTCCT	0.458000																								0		GRCh37	CM034045	LPL	M		SO:0001583	missense			ENST00000311322.8	0	1	hg19	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778409	0.70107	0.0	1.16E-4	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.93307	-3.2	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.226102	0.47852	D	0.000212	D	0.96078	0.8722	M	0.76002	2.32	0.30091	N	0.808285	D	0.89917	1.0	D	0.76575	0.988	D	0.95786	0.8821	8	.	.	.	-23.5122	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	197	P06858	LIPL_HUMAN	H	197;121;183	ENSP00000309757:R197H	.	R	+	2	0	LPL	19855959	0.996000	0.38824	0.997000	0.53966	0.428000	0.31595	3.031000	0.49728	2.941000	0.99782	0.655000	0.94253	CGT		TCGA-IB-AAUR-01A-21D-A38G-08	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3	0	0	0	7	509	0	219	0	1.734783e-01	0	47	0	219	2		0	0	0	0	0	2	1	0.980054	7	504	0	215	2		0	0	0	0	219	2	-2.811881	1	1	121412	5	41	1	0	0	0	1.977718	0	0.180000	2.010000	0.168019	0.150000	0.060000	0.290000	0.150000	0.167508	0.150000	0	0.100000	0.220000
WRN	7486	broad.mit.edu	37	8	31004955	31004955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:31004955G>A	ENST00000298139.5	+	30	3784	c.3535G>A	c.(3535-3537)Gca>Aca	p.A1179T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like			60		Breast(100;0.195)			AGCTATTCTGGCAACAAACAA	0.338000			Mis, N, F, S			osteosarcoma, meningioma, others		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		L, E, M, O	0							SO:0001583	missense	Familial Cancer Database	WS, Adult Progeria	ENST00000298139.5	0	1	hg19	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767242	0.90020	.	.	ENSG00000165392	ENST00000298139	T	0.51574	0.7	4.97	4.97	0.65823	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	M	0.77820	2.39	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74697	-0.3578	10	0.66056	D	0.02	-18.4415	18.1847	0.89789	0.0:0.0:1.0:0.0	.	589;1179	Q59F09;Q14191	.;WRN_HUMAN	T	1179	ENSP00000298139:A1179T	ENSP00000298139:A1179T	A	+	1	0	WRN	31124497	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.519000	0.81809	2.459000	0.83118	0.655000	0.94253	GCA		TCGA-IB-AAUR-01A-21D-A38G-08	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1	0	0	0	6	418	1	165	0	6.298372e-02	0	24	1	165	2		0	0	0	0	0	2	0	0.153984	4	413	1	165	11		0	0	0	1	165	2	-2.586615	1	1	0	0		1	0	0	0	1.977718	0	0.180000	2.010000	0.168019	0.160000	0.060000	0.320000	0.150000	0.177850	0.160000	0	0.100000	0.240000
DRP2	1821	broad.mit.edu	37	X	100492764	100492764	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:100492764G>A	ENST00000395209.3	+	5	965	c.438G>A	c.(436-438)gcG>gcA	p.A146A	DRP2_ENST00000541709.1_Splice_Site_p.A68A|DRP2_ENST00000538510.1_Splice_Site_p.A146A|DRP2_ENST00000402866.1_Splice_Site_p.A146A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2			31					AGACACATGCGGTAGGTTAGA	0.547000																								0							SO:0001630	splice_region_variant			ENST00000395209.3	0	1	hg19	CCDS14480.2																																																																																				TCGA-IB-AAUR-01A-21D-A38G-08	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	0	0	0	4	179	0	93	0	0	0	1	0	93	2		0	0	0	0	0	2	1	0.886017	4	175	0	92	2		0	0	0	0	93	2	-2.702209	1	1	121298	1	31	1	0	1	1			0.180000	2.010000	0.180000	0.130000	0.040000	0.280000	0.120000	0.146426	0.130000	0	0.070000	0.210000
DCAF8L1	139425	broad.mit.edu	37	X	27998523	27998523	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:27998523A>C	ENST00000441525.1	-	1	1043	c.929T>G	c.(928-930)gTt>gGt	p.V310G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1			56					GGTGAACACAACGGCATCTTC	0.478000																								0							SO:0001583	missense			ENST00000441525.1	0	1	hg19	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975494	0.53720	.	.	ENSG00000226372	ENST00000441525	D	0.81499	-1.5	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.80166	0.4573	M	0.85197	2.74	0.80722	D	1	P	0.37548	0.599	B	0.41412	0.356	T	0.76348	-0.2992	10	0.51188	T	0.08	-11.5024	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	310	A6NGE4	DC8L1_HUMAN	G	310	ENSP00000405222:V310G	ENSP00000405222:V310G	V	-	2	0	DCAF8L1	27908444	0.997000	0.39634	0.313000	0.25210	0.401000	0.30781	5.370000	0.66144	0.571000	0.29365	0.235000	0.17854	GTT		TCGA-IB-AAUR-01A-21D-A38G-08	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	0	0	0	5	224	0	95		0	0	0	0	95	2		0	0	0	0	0	2	1	0.933003	4	218	0	95	2		0	0	0	0	95	2	-6.787114	1	0	0	0		1	0	1	1			0.180000	2.010000	0.180000	0.120000	0.040000	0.260000	0.120000	0.141435	0.120000	0	0.080000	0.190000