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
CUBN	8029	broad.mit.edu	37	10	16982060	16982060	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:16982060C>T	ENST00000377833.4	-	37	5584	c.5519G>A	c.(5518-5520)gGc>gAc	p.G1840D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAGCCCGTGCCGCTGCCAGA	0.413000																								0							SO:0001583	missense			ENST00000377833.4	0	1	hg19	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	5.381	0.255505	0.10185	.	.	ENSG00000107611	ENST00000377833	T	0.17528	2.27	6.16	2.85	0.33270	CUB (5);	0.284524	0.25305	N	0.031636	T	0.12902	0.0313	L	0.28400	0.85	0.80722	D	1	B	0.27013	0.166	B	0.32289	0.143	T	0.10683	-1.0619	10	0.30854	T	0.27	.	9.5798	0.39481	0.0:0.6956:0.1232:0.1812	.	1840	O60494	CUBN_HUMAN	D	1840	ENSP00000367064:G1840D	ENSP00000367064:G1840D	G	-	2	0	CUBN	17022066	0.000000	0.05858	0.051000	0.19133	0.016000	0.09150	0.060000	0.14342	0.907000	0.36646	0.650000	0.86243	GGC		TCGA-FB-AAPS-01A-12D-A397-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	0	0	6	741	0	152		0	0	0	0	152	2		0	0	0	0	0	2	1	0.964475	6	737	0	152	2		0	0	0	0	0	2	-1.877142	0	1	0	0		1	0	1	1	1.983061	0	0.100000	2	0.090450	0.160000	0.060000	0.330000	0.160000	0.182462	0.160000	0	0.110000	0.250000
CUBN	8029	broad.mit.edu	37	10	17145151	17145151	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr10:17145151G>A	ENST00000377833.4	-	13	1568	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)			241				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATAACCCAGAAGCAGTTAA	0.358000																								0							SO:0001819	synonymous_variant			ENST00000377833.4	1	1	hg19	CCDS7113.1																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	1	0	0	9	232	0	46		0	0	0	0	46	2		0	0	0	0	0	2	1	0.994255	9	230	0	45	2		0	0	0	0	0	2	-10.659270	1	1	121410	1	34	1	0	1	1	1.983061	0	0.100000	2	0.090450	0.740000	0.370000	1.000000	1.000000	0.752425	0.740000	0	0.530000	1.000000
LGR4	55366	broad.mit.edu	37	11	27390249	27390249	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr11:27390249G>A	ENST00000379214.4	-	18	2464	c.2021C>T	c.(2020-2022)aCa>aTa	p.T674I	LGR4_ENST00000389858.4_Missense_Mutation_p.T650I	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4			32					GCCTGCTACTGTAGCACCTAG	0.438000																								0							SO:0001583	missense			ENST00000379214.4	1	1	hg19	CCDS31449.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.985958	0.00443	.	.	ENSG00000205213	ENST00000379214;ENST00000389858	T;T	0.71103	-0.54;1.32	5.72	2.87	0.33458	GPCR, rhodopsin-like superfamily (1);	0.806293	0.11920	N	0.516808	T	0.45115	0.1326	N	0.03608	-0.345	0.26019	N	0.981899	B;B	0.15930	0.001;0.015	B;B	0.21917	0.004;0.037	T	0.31806	-0.9930	10	0.15952	T	0.53	.	8.7411	0.34558	0.3575:0.0:0.6425:0.0	.	650;674	G5E9B3;Q9BXB1	.;LGR4_HUMAN	I	674;650	ENSP00000368516:T674I;ENSP00000374508:T650I	ENSP00000368516:T674I	T	-	2	0	LGR4	27346825	0.499000	0.26083	0.001000	0.08648	0.565000	0.35776	2.094000	0.41719	0.359000	0.24239	-0.142000	0.14014	ACA		TCGA-FB-AAPS-01A-12D-A397-08	LGR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257467.1	1	0	0	19	345	0	67	0	1.979922e-01	1	14	0	67	2		0	0	0	0	0	2	1	0.999991	20	342	0	67	2		0	0	0	0	0	2	-3.322246	1	1	0	0		1	1	2	3	2.013211	0	0.100000	2	0.108470	0.990000	0.670000	1.000000	1.000000	0.951537	0.990000	1	0.860000	1.000000
UHRF1BP1L	23074	broad.mit.edu	37	12	100466468	100466468	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:100466468C>T	ENST00000279907.7	-	12	1743	c.1531G>A	c.(1531-1533)Gat>Aat	p.D511N	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.D511N|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D161N	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like			50					TCCTTTCCATCTGGATAGTAA	0.274000																								0							SO:0001583	missense			ENST00000279907.7	1	1	hg19	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.308215	0.95629	.	.	ENSG00000111647	ENST00000279907;ENST00000545232;ENST00000356828;ENST00000548045	T;T;T	0.38077	2.71;2.67;1.16	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.63260	0.2496	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.81914	0.995;0.985	T	0.65240	-0.6216	10	0.72032	D	0.01	-21.0396	19.7072	0.96079	0.0:1.0:0.0:0.0	.	511;511	A0JNW5-2;A0JNW5	.;UH1BL_HUMAN	N	511;161;511;100	ENSP00000279907:D511N;ENSP00000444824:D161N;ENSP00000349285:D511N	ENSP00000279907:D511N	D	-	1	0	UHRF1BP1L	98990599	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.662000	0.90505	0.591000	0.81541	GAT		TCGA-FB-AAPS-01A-12D-A397-08	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	1	0	0	13	265	0	63	0	7.704248e-03	0	3	0	63	2		0	0	0	0	0	2	1	0.999567	13	265	0	63	2		0	0	0	0	0	2	-3.225711	1	1	0	0		1	0	1	1	1.997310	0	0.100000	2	0.093656	0.930000	0.520000	1.000000	1.000000	0.878306	0.930000	1	0.700000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-FB-AAPS-01A-12D-A397-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	13	259	0	49	0	6.188499e-02	0	8	0	49	2	1	9.996447e-01	14	266	0	582	2	1	0.999536	13	256	0	48	2	1	1	524	7493	5	8006	12	-4.741986	1	1	121404	2	44	1	0	1	1	1.997310	0	0.100000	2	0.093656	0.950000	0.530000	1.000000	1.000000	0.888046	0.950000	1	0.720000	1.000000
MYO16	23026	broad.mit.edu	37	13	109859074	109859074	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:109859074G>A	ENST00000357550.2	+	34	5508	c.5467G>A	c.(5467-5469)Gag>Aag	p.E1823K	MYO16_ENST00000356711.2_Missense_Mutation_p.E1823K	NM_001198950.1	NP_001185879.1			myosin XVI			121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		GCACCACGCTGAGCCCAGGGT	0.602000																								0							SO:0001583	missense			ENST00000357550.2	1	1	hg19	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	16.06	3.016418	0.54468	.	.	ENSG00000041515	ENST00000356711;ENST00000357550	D;D	0.82344	-1.6;-1.6	4.34	4.34	0.51931	.	0.000000	0.40818	U	0.001003	D	0.84023	0.5381	L	0.53249	1.67	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	D	0.83751	0.0209	9	.	.	.	.	14.1841	0.65592	0.0:0.0:1.0:0.0	.	1823	Q9Y6X6	MYO16_HUMAN	K	1823	ENSP00000349145:E1823K;ENSP00000350160:E1823K	.	E	+	1	0	MYO16	108657075	1.000000	0.71417	0.914000	0.36105	0.088000	0.18126	6.105000	0.71505	2.248000	0.74166	0.563000	0.77884	GAG		TCGA-FB-AAPS-01A-12D-A397-08	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	1	0	1	20	181	0	49	0	0	0	1	0	49	2		0	0	0	0	0	2	1	0.999996	20	178	0	48	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.017051	0	0.100000	2	0.109352	0.990000	0.990000	1.000000	1.000000	0.999850	0.990000	1	0.990000	1.000000
MTUS2	23281	broad.mit.edu	37	13	29599068	29599068	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:29599068T>A	ENST00000431530.3	+	1	321	c.263T>A	c.(262-264)tTt>tAt	p.F88Y		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2			20					CATAAGGAATTTCACCAACTT	0.453000																								0							SO:0001583	missense			ENST00000431530.3	1	1	hg19	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	t	8.487	0.861180	0.17178	.	.	ENSG00000132938	ENST00000431530	T	0.12672	2.66	5.37	-0.252	0.12999	.	0.731038	0.11928	N	0.515982	T	0.08179	0.0204	L	0.36672	1.1	0.09310	N	1	P	0.34757	0.467	B	0.34138	0.176	T	0.29058	-1.0024	9	.	.	.	.	0.7446	0.00980	0.2493:0.3104:0.1316:0.3087	.	78	Q5JR59	MTUS2_HUMAN	Y	88	ENSP00000392057:F88Y	.	F	+	2	0	MTUS2	28497068	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.521000	0.22893	-0.033000	0.13736	-0.418000	0.06021	TTT		TCGA-FB-AAPS-01A-12D-A397-08	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	1	0	0	12	168	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	0.999070	12	163	0	33	2		0	0	0	0	0	2	-16.712310	1	1	0	0		1	1	2	3	2.017051	0	0.100000	2	0.109352	0.990000	0.760000	1.000000	1.000000	0.982546	0.990000	1	0.990000	1.000000
FREM2	341640	broad.mit.edu	37	13	39425162	39425162	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr13:39425162G>A	ENST00000280481.7	+	10	6875	c.6659G>A	c.(6658-6660)gGc>gAc	p.G2220D		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2			148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)			CTGGTACTCGGCACTCCACAA	0.468000																								0							SO:0001583	missense			ENST00000280481.7	0	1	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.725627	0.68959	.	.	ENSG00000150893	ENST00000280481	T	0.27890	1.64	5.8	5.8	0.92144	Na-Ca exchanger/integrin-beta4 (1);	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.68678	-0.5345	10	0.87932	D	0	.	19.0387	0.92989	0.0:0.0:1.0:0.0	.	2220;2220	Q5SZK8-2;Q5SZK8	.;FREM2_HUMAN	D	2220	ENSP00000280481:G2220D	ENSP00000280481:G2220D	G	+	2	0	FREM2	38323162	1.000000	0.71417	0.291000	0.24904	0.025000	0.11179	9.457000	0.97630	2.749000	0.94314	0.650000	0.86243	GGC		TCGA-FB-AAPS-01A-12D-A397-08	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	0	0	0	5	415	0	88		0	0	0	0	88	2		0	0	0	0	0	2	1	0.937502	5	414	0	88	2		0	0	0	0	0	2	-2.664359	1	1	0	0		1	1	2	3	2.017051	0	0.100000	2	0.109352	0.280000	0.100000	1.000000	0.240000	0.394946	0.280000	0	0.170000	0.690000
ASPG	374569	broad.mit.edu	37	14	104570767	104570767	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:104570767G>A	ENST00000551177.1	+	8	972	c.880G>A	c.(880-882)Gtc>Atc	p.V294I	ASPG_ENST00000455920.2_Missense_Mutation_p.V294I|ASPG_ENST00000546892.2_Missense_Mutation_p.V294I	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase			11					CCTGGTCATCGTCAACTGTAC	0.657000																								0							SO:0001583	missense			ENST00000551177.1	0	1	hg19	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	G	9.447	1.089554	0.20390	2.34E-4	0.0	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.32988	1.43;1.43;1.43	4.1	-0.315	0.12746	.	0.591503	0.16314	N	0.219861	T	0.17280	0.0415	L	0.40543	1.245	0.31470	N	0.668549	P;B;B;B	0.35542	0.508;0.097;0.303;0.239	B;B;B;B	0.28385	0.089;0.026;0.021;0.058	T	0.18840	-1.0324	10	0.27082	T	0.32	-10.5745	5.8295	0.18572	0.186:0.5239:0.2901:0.0	.	294;294;294;322	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	I	294;322;294;294	ENSP00000450040:V294I;ENSP00000448911:V294I;ENSP00000389003:V294I	ENSP00000299234:V322I	V	+	1	0	ASPG	103640520	0.000000	0.05858	0.875000	0.34327	0.497000	0.33675	-0.095000	0.11077	-0.132000	0.11557	0.462000	0.41574	GTC		TCGA-FB-AAPS-01A-12D-A397-08	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	0	0	0	5	251	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	0.937505	5	250	0	53	2		0	0	0	0	0	2	-6.047062	1	1	0	0		1	1	2	3	2.015332	0	0.100000	2	0.108911	0.460000	0.160000	1.000000	0.380000	0.536739	0.460000	0	0.280000	0.980000
PTGER2	5732	broad.mit.edu	37	14	52781689	52781689	+	Silent	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:52781689C>T	ENST00000245457.5	+	1	577	c.423C>T	c.(421-423)ccC>ccT	p.P141P	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa			15	Breast(41;0.0639)|all_epithelial(31;0.0729)			Alprostadil(DB00770)|Dinoprostone(DB00917)|Misoprostol(DB00929)	TCGGGCACCCCTACTTCTACC	0.642000																								0							SO:0001819	synonymous_variant			ENST00000245457.5	1	1	hg19	CCDS9708.1																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	PTGER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276890.1	1	0	0	17	378	0	95	0	2.627026e-01	0	22	0	95	2		0	0	0	0	0	2	1	0.999965	17	375	0	94	2		0	0	0	0	0	2	-2.778193	1	1	0	0		1	1	2	3	2.015332	0	0.100000	2	0.108911	0.920000	0.540000	1.000000	1.000000	0.876183	0.920000	1	0.700000	1.000000
SMOC1	64093	broad.mit.edu	37	14	70418995	70418995	+	Silent	SNP	C	C	T	rs111874562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:70418995C>T	ENST00000381280.4	+	2	493	c.240C>T	c.(238-240)ggC>ggT	p.G80G	SMOC1_ENST00000555917.1_3'UTR|SMOC1_ENST00000361956.3_Silent_p.G80G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1			21					CGACCCTGGGCGTGGTGCATC	0.597000																								0							SO:0001819	synonymous_variant			ENST00000381280.4	1	1	hg19	CCDS9798.1																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1	1	0	0	13	298	0	87	0	1.196952e-02	0	4	0	87	2		0	0	0	0	0	2	1	0.999522	12	295	0	86	2		0	0	0	0	0	2	-4.266652	1	1	121412	6	40	1	1	2	3	2.015332	0	0.100000	2	0.108911	0.900000	0.490000	1.000000	1.000000	0.858754	0.900000	1	0.670000	1.000000
KCNK10	54207	broad.mit.edu	37	14	88729828	88729828	+	Silent	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:88729828C>T	ENST00000340700.5	-	2	556	c.105G>A	c.(103-105)ccG>ccA	p.P35P	KCNK10_ENST00000312350.5_Silent_p.P40P|KCNK10_ENST00000319231.5_Silent_p.P40P	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10			47					GAGTCGGAGCCGGAGCCGGGG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000340700.5	0	1	hg19	CCDS9880.1																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	0	0	0	7	567	0	117		0	0	0	0	117	2		0	0	0	0	0	2	1	0.979716	6	560	0	117	2		0	0	0	0	0	2	-5.115172	1	0	0	0		1	1	2	3	2.015332	0	0.100000	2	0.108911	0.280000	0.110000	1.000000	0.240000	0.386236	0.280000	0	0.180000	0.550000
ATG2B	55102	broad.mit.edu	37	14	96779761	96779761	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr14:96779761G>T	ENST00000359933.4	-	24	4547	c.3654C>A	c.(3652-3654)ttC>ttA	p.F1218L	ATG2B_ENST00000261834.5_5'Flank	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B			64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)			CAATATTCAAGAAGTATAAAA	0.303000																								0							SO:0001583	missense			ENST00000359933.4	1	1	hg19	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122650	0.77436	.	.	ENSG00000066739	ENST00000359933	T	0.11169	2.8	5.73	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	M	0.71036	2.16	0.58432	D	0.999994	D	0.69078	0.997	D	0.70716	0.97	T	0.01587	-1.1318	10	0.40728	T	0.16	.	7.5215	0.27631	0.2796:0.0:0.7204:0.0	.	1218	Q96BY7	ATG2B_HUMAN	L	1218	ENSP00000353010:F1218L	ENSP00000353010:F1218L	F	-	3	2	ATG2B	95849514	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.278000	0.51662	1.394000	0.46624	0.655000	0.94253	TTC		TCGA-FB-AAPS-01A-12D-A397-08	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	1	0	0	17	284	0	56	1	9.850936e-02	2	7	0	56	2		0	0	0	0	0	2	1	0.999967	17	282	0	56	2		0	0	0	0	0	2	-19.342700	1	1	0	0		1	1	2	3	2.015332	0	0.100000	2	0.108911	0.990000	0.710000	1.000000	1.000000	0.967627	0.990000	1	0.920000	1.000000
MAPKBP1	23005	broad.mit.edu	37	15	42109604	42109604	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:42109604G>A	ENST00000456763.2	+	16	1944	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R577H|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R460H|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R577H|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R416H	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1			56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)			GGGCAAGTCCGCATGATCAGC	0.612000																								0							SO:0001583	missense			ENST00000456763.2	0	1	hg19	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	32	5.110217	0.94292	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	L	0.43152	1.355	0.51767	D	0.99993	D;D;D;P;P	0.89917	1.0;0.999;1.0;0.92;0.892	D;D;D;P;P	0.79108	0.992;0.921;0.977;0.658;0.452	T	0.71705	-0.4512	10	0.59425	D	0.04	-17.6502	19.7785	0.96405	0.0:0.0:1.0:0.0	.	416;460;577;583;577	F8WC21;O60336-3;O60336-2;O60336;O60336-6	.;.;.;MABP1_HUMAN;.	H	577;460;416;583;577	ENSP00000397570:R577H;ENSP00000221214:R460H;ENSP00000260357:R416H;ENSP00000393099:R583H;ENSP00000426154:R577H	ENSP00000221214:R460H	R	+	2	0	MAPKBP1	39896896	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.059000	0.89462	2.667000	0.90743	0.563000	0.77884	CGC		TCGA-FB-AAPS-01A-12D-A397-08	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	0	0	0	5	355	0	81	0	8.197939e-03	0	8	0	81	2		0	0	0	0	0	2	1	0.936580	5	352	0	81	2		0	0	0	0	0	2	-2.411422	0	1	121412	6	38	1	0	1	1	1.984148	0	0.100000	2	0.090909	0.290000	0.110000	0.590000	0.270000	0.319078	0.290000	0	0.180000	0.440000
FSD2	123722	broad.mit.edu	37	15	83438550	83438550	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr15:83438550T>C	ENST00000334574.8	-	8	1535	c.1354A>G	c.(1354-1356)Aac>Gac	p.N452D	FSD2_ENST00000541889.1_Intron			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2			18					CCAGCCCTGTTGTGAGCTGTG	0.478000																								0							SO:0001583	missense			ENST00000334574.8	0	1	hg19	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.843035	0.91197	.	.	ENSG00000186628	ENST00000334574	T	0.61859	0.07	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78298	-0.2258	10	0.52906	T	0.07	-44.4125	15.3589	0.74453	0.0:0.0:0.0:1.0	.	452	A1L4K1	FSD2_HUMAN	D	452	ENSP00000335651:N452D	ENSP00000335651:N452D	N	-	1	0	FSD2	81235604	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	7.299000	0.78831	2.225000	0.72522	0.459000	0.35465	AAC		TCGA-FB-AAPS-01A-12D-A397-08	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	0	0	0	30	295	1	70		0	0	0	1	70	2		0	0	0	0	0	2	1	0.988309	30	292	1	68	16		0	0	0	0	0	2	-20.000000	1	1	0	0		1	0	1	1	1.987728	0	0.100000	2	0.091368	0.990000	0.990000	1.000000	1.000000	0.999896	0.990000	1	0.990000	1.000000
ATP2C2	9914	broad.mit.edu	37	16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr16:84476138C>T	ENST00000262429.4	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.A445V	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2			33					GCCAACAATGCGGTCATCAGA	0.552000																								0							SO:0001583	missense			ENST00000262429.4	1	1	hg19	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.015619	0.93404	0.0	1.21E-4	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	T;T	0.74002	-0.8;-0.8	4.92	4.92	0.64577	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.416605	0.24280	N	0.039912	D	0.86851	0.6032	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.989;1.0	D;D;P;D	0.81914	0.918;0.987;0.79;0.995	D	0.88725	0.3232	10	0.87932	D	0	.	17.4464	0.87579	0.0:1.0:0.0:0.0	.	445;294;462;445	E7ES94;F8WAA5;O75185-2;O75185	.;.;.;AT2C2_HUMAN	V	445;445;294	ENSP00000397925:A445V;ENSP00000262429:A445V	ENSP00000262429:A445V	A	+	2	0	ATP2C2	83033639	1.000000	0.71417	0.938000	0.37757	0.625000	0.37756	7.069000	0.76755	2.436000	0.82500	0.491000	0.48974	GCG		TCGA-FB-AAPS-01A-12D-A397-08	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	0	0	0	77	1026	1	246		0	0	0	1	246	2		0	0	0	0	0	2	1	1.000000	76	1021	1	245	16		0	0	0	0	0	2	-12.787620	1	0	0	0		1	0	1	1	1.948083	0	0.100000	2	0.075501	0.990000	0.990000	1.000000	1.000000	0.999797	0.990000	1	0.990000	1.000000
TUBG1	7283	broad.mit.edu	37	17	40767013	40767013	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:40767013C>T	ENST00000251413.3	+	11	1372	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1			12		Breast(137;0.00116)		Vinblastine(DB00570)	GAGTACCATGCGGCCACACGG	0.577000													Colon(20;114 698 11420 22864)											0							SO:0001583	missense			ENST00000251413.3	0	1	hg19	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912393	0.72983	2.27E-4	0.0	ENSG00000131462	ENST00000251413	D	0.84873	-1.91	5.02	5.02	0.67125	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.64402	D	0.000001	D	0.83008	0.5161	M	0.82517	2.595	0.80722	D	1	P	0.46621	0.881	B	0.20184	0.028	D	0.87729	0.2578	10	0.72032	D	0.01	-12.5776	18.361	0.90374	0.0:1.0:0.0:0.0	.	437	P23258	TBG1_HUMAN	V	437	ENSP00000251413:A437V	ENSP00000251413:A437V	A	+	2	0	TUBG1	38020539	1.000000	0.71417	0.959000	0.39883	0.970000	0.65996	7.794000	0.85869	2.339000	0.79563	0.563000	0.77884	GCG		TCGA-FB-AAPS-01A-12D-A397-08	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1	0	0	0	5	372	0	58	0	3.374605e-01	0	77	0	58	2		0	0	0	0	0	2	1	0.937937	5	372	0	58	2		0	0	0	0	0	2	-2.371365	0	1	121412	3	36	1	1	2	3	2.157769	1	0.100000	2	0.142857	0.300000	0.110000	0.600000	0.270000	0.327160	0.300000	0	0.190000	0.450000
AOC3	8639	broad.mit.edu	37	17	41006599	41006599	+	Missense_Mutation	SNP	G	G	A	rs151291423		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:41006599G>A	ENST00000308423.2	+	2	1895	c.1735G>A	c.(1735-1737)Gtg>Atg	p.V579M	AOC3_ENST00000591562.1_Missense_Mutation_p.V36M	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3			41		Breast(137;0.000143)		Hydralazine(DB01275)|Phenelzine(DB00780)	CGCCTTCCTCGTGGGAAGCGC	0.652000													NSCLC(3;192 220 10664 11501 16477)											0							SO:0001583	missense			ENST00000308423.2	1	1	hg19	CCDS11444.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	6.783	0.513399	0.12944	4.54E-4	0.0	ENSG00000131471	ENST00000308423	T	0.04119	3.7	5.32	-2.88	0.05682	Copper amine oxidase, C-terminal (3);	0.357546	0.26549	N	0.023746	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.14023	0.01	T	0.39292	-0.9621	10	0.39692	T	0.17	.	2.3969	0.04392	0.3096:0.3338:0.2405:0.1161	.	579	Q16853	AOC3_HUMAN	M	579	ENSP00000312326:V579M	ENSP00000312326:V579M	V	+	1	0	AOC3	38260125	0.001000	0.12720	0.879000	0.34478	0.007000	0.05969	0.172000	0.16704	-0.045000	0.13468	-1.127000	0.01993	GTG		TCGA-FB-AAPS-01A-12D-A397-08	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	1	0	0	13	238	0	46	0	9.321191e-01	0	87	0	46	2		0	0	0	0	0	2	1	0.999512	13	233	0	46	2		0	0	0	0	0	2	-15.466960	1	1	121410	5	35	1	1	2	3	2.157769	1	0.100000	2	0.142857	0.990000	0.620000	1.000000	1.000000	0.942594	0.990000	1	0.830000	1.000000
AMZ2	51321	broad.mit.edu	37	17	66251858	66251858	+	Silent	SNP	C	C	T	rs138911562		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:66251858C>T	ENST00000359904.3	+	6	1900	c.768C>T	c.(766-768)atC>atT	p.I256I	AMZ2_ENST00000359783.4_Silent_p.I198I|AMZ2_ENST00000580753.1_Silent_p.I256I|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000392720.2_Silent_p.I256I|AMZ2_ENST00000577866.1_Silent_p.I256I|AMZ2_ENST00000577985.1_Silent_p.I256I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2			9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		CCCATGAGATCGGACACATAT	0.478000																								0							SO:0001819	synonymous_variant			ENST00000359904.3	0	1	hg19	CCDS11674.1																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	0	0	0	5	423	0	89	1	6.311465e-01	4	164	0	89	2		0	0	0	0	0	2	1	0.935544	5	417	0	88	2		0	0	0	0	0	2	-2.621214	1	1	121412	26	47	1	0	1	1	1.991006	0	0.100000	2	0.092284	0.240000	0.090000	0.500000	0.230000	0.270353	0.240000	0	0.150000	0.370000
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr17:7578395G>A	ENST00000269305.4	-	5	724	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000420246.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y|TP53_ENST00000413465.2_Missense_Mutation_p.H179Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CAGCGCTCATGGTGGGGGCAG	0.642000		111	Mis, N, F		breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types	breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		L, E, M, O	197	Substitution - Missense(143)|Deletion - In frame(25)|Deletion - Frameshift(19)|Whole gene deletion(8)|Complex - deletion inframe(1)|Complex - compound substitution(1)	GRCh37	CM067054	TP53	M		SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	32	5.137178	0.94517	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99909	-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87;-7.87	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.048592	0.85682	D	0.000000	D	0.99914	0.9959	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.992;1.0;0.989;1.0;0.999;1.0;0.997	D;D;D;D;D;D;D	0.97110	0.953;0.997;0.941;1.0;0.993;0.995;0.958	D	0.96190	0.9137	10	0.87932	D	0	-15.4889	17.4784	0.87667	0.0:0.0:1.0:0.0	.	140;179;179;86;179;179;179	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	179;179;179;179;179;179;168;86;47;86;47	ENSP00000410739:H179Y;ENSP00000352610:H179Y;ENSP00000269305:H179Y;ENSP00000398846:H179Y;ENSP00000391127:H179Y;ENSP00000391478:H179Y;ENSP00000425104:H47Y;ENSP00000423862:H86Y	ENSP00000269305:H179Y	H	-	1	0	TP53	7519120	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	9.813000	0.99286	2.804000	0.96469	0.655000	0.94253	CAT		TCGA-FB-AAPS-01A-12D-A397-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	24	307	0	72	1	7.205393e-01	2	32	0	72	2	1	1	51	738	1	1207	6	1	1.000000	24	306	0	72	2		0	0	0	0	0	2	-3.221897	1	1	0	0		1	0	1	1	1.896288	1	0.100000	2	0.052632	0.920000	0.710000	1.000000	0.990000	0.913308	0.920000	1	0.830000	0.980000
NAPG	8774	broad.mit.edu	37	18	10530778	10530778	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr18:10530778G>T	ENST00000322897.6	+	2	137	c.68G>T	c.(67-69)gGt>gTt	p.G23V	NAPG_ENST00000542979.1_Intron	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma			4					CTGAAAACTGGTTTTTTAAAA	0.353000																								0							SO:0001583	missense			ENST00000322897.6	0	1	hg19	CCDS45827.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.697849	0.48307	.	.	ENSG00000134265	ENST00000322897	T	0.38240	1.15	5.42	5.42	0.78866	Tetratricopeptide-like helical (1);	0.139931	0.64402	D	0.000004	T	0.33411	0.0862	N	0.19112	0.55	0.80722	D	1	P	0.44429	0.835	P	0.44477	0.451	T	0.15464	-1.0436	10	0.66056	D	0.02	-4.1077	19.4084	0.94658	0.0:0.0:1.0:0.0	.	23	Q99747	SNAG_HUMAN	V	23	ENSP00000324628:G23V	ENSP00000324628:G23V	G	+	2	0	NAPG	10520778	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.009000	0.93606	2.820000	0.97059	0.650000	0.86243	GGT		TCGA-FB-AAPS-01A-12D-A397-08	NAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444873.1	0	0	1	5	49	0	12	0	3.299676e-01	1	10	0	12	2		0	0	0	0	0	2	1	0.940652	5	49	0	12	2		0	0	0	0	0	2	-10.347180	1	1	0	0		1	0	0	0	1.969049	0	0.100000	2	0.079755	0.990000	0.560000	1.000000	1.000000	0.949109	0.990000	1	0.870000	1.000000
NXNL1	115861	broad.mit.edu	37	19	17571500	17571500	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:17571500C>T	ENST00000301944.2	-	1	263	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	CTD-2521M24.10_ENST00000594663.1_5'UTR	NM_138454.1	NP_612463.1	Q96CM4	NXNL1_HUMAN	nucleoredoxin-like 1			6					ATCTGTGAGCCGCACGAAGAA	0.612000																								0							SO:0001583	missense			ENST00000301944.2	1	1	hg19	CCDS12360.1	.	.	.	.	.	.	.	.	.	.	c	10.87	1.472826	0.26423	2.27E-4	0.0	ENSG00000171773	ENST00000301944	T	0.80123	-1.34	3.92	1.63	0.23807	Thioredoxin-like fold (3);	0.201829	0.37012	N	0.002283	T	0.55353	0.1915	N	0.16708	0.43	0.29006	N	0.887146	P	0.49635	0.926	B	0.33339	0.162	T	0.55805	-0.8083	10	0.25106	T	0.35	-24.7216	7.195	0.25847	0.0:0.7457:0.0:0.2543	.	60	Q96CM4	NXNL1_HUMAN	Q	60	ENSP00000305631:R60Q	ENSP00000305631:R60Q	R	-	2	0	NXNL1	17432500	0.000000	0.05858	0.919000	0.36401	0.529000	0.34654	0.379000	0.20585	0.860000	0.35481	0.467000	0.42956	CGG		TCGA-FB-AAPS-01A-12D-A397-08	NXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463803.1	1	0	0	21	327	0	61		0	0	0	0	61	2		0	0	0	0	0	2	1	0.999998	21	325	0	60	2		0	0	0	0	0	2	-2.921031	1	1	121410	5	35	1	1	2	3	2.026383	0	0.100000	2	0.111550	0.990000	0.800000	1.000000	1.000000	0.984599	0.990000	1	0.990000	1.000000
WDR62	284403	broad.mit.edu	37	19	36572414	36572414	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:36572414G>T	ENST00000270301.7	+	10	1313	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L	WDR62_ENST00000388999.3_Missense_Mutation_p.R438L|WDR62_ENST00000401500.2_Missense_Mutation_p.R438L			O43379	WDR62_HUMAN	WD repeat domain 62			43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)		AACACCATTCGCTTCTGGAAC	0.463000																								0							SO:0001583	missense			ENST00000270301.7	1	1	hg19	CCDS33001.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246220	0.95272	.	.	ENSG00000075702	ENST00000401500;ENST00000388999;ENST00000270301	T;T;T	0.67698	-0.28;-0.28;-0.28	5.23	5.23	0.72850	WD40/YVTN repeat-like-containing domain (2);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.84524	0.5491	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.87579	0.2483	10	0.87932	D	0	-37.3853	16.3039	0.82841	0.0:0.0:1.0:0.0	.	438;438	O43379-4;O43379	.;WDR62_HUMAN	L	438	ENSP00000384792:R438L;ENSP00000373651:R438L;ENSP00000270301:R438L	ENSP00000270301:R438L	R	+	2	0	WDR62	41264254	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.460000	0.97641	2.462000	0.83206	0.655000	0.94253	CGC		TCGA-FB-AAPS-01A-12D-A397-08	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	1	0	0	27	534	0	112	0	7.400104e-03	1	2	0	112	2		0	0	0	0	0	2	1	1.000000	27	531	0	111	2		0	0	0	0	0	2	-4.767748	1	0	0	0		1	1	2	3	2.026383	0	0.100000	2	0.111550	0.990000	0.670000	1.000000	1.000000	0.937851	0.990000	1	0.830000	1.000000
CATSPERG	57828	broad.mit.edu	37	19	38858385	38858385	+	Missense_Mutation	SNP	G	G	A	rs147603617		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:38858385G>A	ENST00000409235.3	+	25	3014	c.2899G>A	c.(2899-2901)Gaa>Aaa	p.E967K	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.E927K	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma			40					CAGTGAGGACGAAATCTACCG	0.592000																								0							SO:0001583	missense			ENST00000409235.3	1	1	hg19	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	G	15.36	2.811016	0.50421	0.0	1.16E-4	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.57273	0.41;0.41	3.93	3.93	0.45458	.	0.165988	0.28214	N	0.016180	T	0.47857	0.1468	L	0.29908	0.895	0.80722	D	1	D;P	0.60160	0.987;0.876	P;B	0.50162	0.633;0.176	T	0.52593	-0.8555	10	0.72032	D	0.01	-10.9001	11.3115	0.49366	0.0:0.0:1.0:0.0	.	967;927	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	K	927;967;967	ENSP00000387057:E927K;ENSP00000386962:E967K	ENSP00000386962:E967K	E	+	1	0	CATSPERG	43550225	0.982000	0.34865	0.772000	0.31596	0.164000	0.22412	2.970000	0.49240	2.002000	0.58637	0.484000	0.47621	GAA		TCGA-FB-AAPS-01A-12D-A397-08	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	1	0	0	75	1204	0	284		0	0	0	0	284	2		0	0	0	0	0	2	1	1.000000	75	1195	0	283	2		0	0	0	0	0	2	-10.075920	1	1	121412	5	42	1	1	2	3	2.026383	0	0.100000	2	0.111550	0.990000	0.950000	1.000000	1.000000	0.997294	0.990000	1	0.990000	1.000000
XRCC1	7515	broad.mit.edu	37	19	44055781	44055781	+	Missense_Mutation	SNP	C	C	A	rs2271980		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr19:44055781C>A	ENST00000262887.5	-	10	1688	c.1141G>T	c.(1141-1143)Gtg>Ttg	p.V381L	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.V350L			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1			19		Prostate(69;0.0153)			TCCTTACGCACGATGCGGCCT	0.622000								Other BER factors																0							SO:0001583	missense			ENST00000262887.5	0	1	hg19	CCDS12624.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907354	0.92107	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000543982	D;D	0.82619	-1.63;-1.63	5.16	4.11	0.48088	BRCT (4);	0.000000	0.85682	D	0.000000	D	0.89329	0.6684	M	0.72479	2.2	0.80722	D	1	B;D	0.69078	0.041;0.997	B;D	0.71656	0.028;0.974	D	0.89976	0.4097	10	0.56958	D	0.05	-22.7288	13.6093	0.62068	0.1567:0.8433:0.0:0.0	.	350;381	F5H8D7;P18887	.;XRCC1_HUMAN	L	395;381;350	ENSP00000262887:V381L;ENSP00000443671:V350L	ENSP00000262887:V381L	V	-	1	0	XRCC1	48747621	1.000000	0.71417	0.977000	0.42913	0.996000	0.88848	5.071000	0.64382	1.472000	0.48140	0.655000	0.94253	GTG		TCGA-FB-AAPS-01A-12D-A397-08	XRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463194.1	1	0	0	26	533	0	126	1	7.250238e-01	3	51	0	126	2		0	0	0	0	0	2	1	1.000000	26	523	0	124	2		0	0	0	0	0	2	-4.886227	1	1	0	0		1	1	2	3	2.026383	0	0.100000	2	0.111550	0.990000	0.640000	1.000000	1.000000	0.923661	0.990000	1	0.800000	1.000000
SPTA1	6708	broad.mit.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	p.R2016H(1)		307	all_hematologic(112;0.0378)				CTGTTCCCAGCGCTTCAGCAG	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000368147.4	1	1	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288856	0.23478	7.75E-4	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.78	-1.49	0.08718	.	.	.	.	.	T	0.17619	0.0423	L	0.56340	1.77	0.38903	D	0.957367	P	0.47106	0.89	B	0.41723	0.365	T	0.10132	-1.0643	9	0.40728	T	0.16	.	5.6431	0.17575	0.1234:0.5367:0.0:0.3399	.	2016	P02549	SPTA1_HUMAN	H	2016;2013	ENSP00000357130:R2016H;ENSP00000357129:R2013H	ENSP00000357129:R2013H	R	-	2	0	SPTA1	156859470	0.999000	0.42202	0.633000	0.29310	0.020000	0.10135	0.741000	0.26202	-0.360000	0.08138	-0.136000	0.14681	CGC		TCGA-FB-AAPS-01A-12D-A397-08	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	0	56	1083	1	259		0	0	0	1	259	2		0	0	0	0	0	2	1	1.000000	54	1079	1	259	16		0	0	0	0	0	2	-6.495884	1	1	120846	19	49	1	1	2	3	2.019297	0	0.100000	2	0.109792	0.990000	0.760000	1.000000	1.000000	0.958069	0.990000	1	0.880000	1.000000
BAI2	576	broad.mit.edu	37	1	32196581	32196581	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:32196581G>A	ENST00000373658.3	-	29	4541	c.4200C>T	c.(4198-4200)tcC>tcT	p.S1400S	BAI2_ENST00000257070.4_Silent_p.S1367S|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000440175.2_Silent_p.S1009S|BAI2_ENST00000398542.1_Silent_p.S1300S|BAI2_ENST00000398556.3_Silent_p.S1315S|BAI2_ENST00000398547.1_Silent_p.S1333S|BAI2_ENST00000527361.1_Silent_p.S1367S|BAI2_ENST00000398538.1_Silent_p.S1388S|BAI2_ENST00000373655.2_Silent_p.S1400S	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2			55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)			AGTGGTCCACGGACAGGAAGC	0.692000																								0							SO:0001819	synonymous_variant			ENST00000373658.3	1	1	hg19	CCDS346.2																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	1	0	0	12	238	0	46	0	3.679733e-01	0	25	0	46	2		0	0	0	0	0	2	1	0.999161	12	237	0	46	2		0	0	0	0	0	2	-3.240184	1	1	121212	2	33	1	1	2	3	2.019608	0	0.100000	2	0.109792	0.990000	0.550000	1.000000	1.000000	0.914315	0.990000	1	0.760000	1.000000
RSPO1	284654	broad.mit.edu	37	1	38079563	38079563	+	Splice_Site	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:38079563C>T	ENST00000401069.1	-	6	1150	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000356545.2_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401068.1_Splice_Site_p.A146A	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1			12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			TTTCACATTGCGCTGGCAGGA	0.617000													GBM(122;680 2230 27822 42821)											0							SO:0001630	splice_region_variant			ENST00000401069.1	1	0	hg19	CCDS41304.1																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	1	0	1	37	293	0	60	0	0	0	1	0	60	2		0	0	0	0	0	2	1	1.000000	37	291	0	59	2		0	0	0	0	0	2	-3.017769	1	1	120878	5	40	1	1	2	3	2.019608	0	0.100000	2	0.109792	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
RNF220	55182	broad.mit.edu	37	1	44878230	44878230	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr1:44878230G>A	ENST00000355387.2	+	2	911	c.461G>A	c.(460-462)cGc>cAc	p.R154H	RNF220_ENST00000361799.2_Missense_Mutation_p.R154H|RNF220_ENST00000372247.2_Missense_Mutation_p.R154H			Q5VTB9	RN220_HUMAN	ring finger protein 220			29					CCCCACTTGCGCTTCTCAGAT	0.537000																								0							SO:0001583	missense			ENST00000355387.2	1	1	hg19	CCDS510.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405361	0.83230	.	.	ENSG00000187147	ENST00000355387;ENST00000361799;ENST00000453887;ENST00000372247	.	.	.	5.69	5.69	0.88448	.	0.114405	0.64402	N	0.000010	T	0.66867	0.2833	L	0.27053	0.805	0.80722	D	1	D	0.71674	0.998	D	0.69479	0.964	T	0.70011	-0.4989	9	0.87932	D	0	.	19.8074	0.96536	0.0:0.0:1.0:0.0	.	154	Q5VTB9	RN220_HUMAN	H	154	.	ENSP00000347548:R154H	R	+	2	0	RNF220	44650817	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.476000	0.97823	2.684000	0.91462	0.655000	0.94253	CGC		TCGA-FB-AAPS-01A-12D-A397-08	RNF220-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020683.4	1	0	0	21	467	0	97	0	0	0	1	0	97	2		0	0	0	0	0	2	1	0.999997	21	464	0	97	2		0	0	0	0	0	2	-3.292624	1	1	0	0		1	1	2	3	2.019608	0	0.100000	2	0.109792	0.920000	0.570000	1.000000	1.000000	0.881410	0.920000	1	0.720000	1.000000
DGCR2	9993	broad.mit.edu	37	22	19050735	19050735	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:19050735C>A	ENST00000263196.7	-	5	852	c.605G>T	c.(604-606)cGc>cTc	p.R202L	DGCR2_ENST00000473832.1_5'UTR|DGCR2_ENST00000545799.1_Missense_Mutation_p.R199L|DGCR2_ENST00000537045.1_Missense_Mutation_p.R161L	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2			18	Colorectal(54;0.0993)				CACCTCCCAGCGACCTTCCAA	0.587000																								0							SO:0001583	missense			ENST00000263196.7	1	1	hg19	CCDS33598.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000644	0.54254	.	.	ENSG00000070413	ENST00000537045;ENST00000263196;ENST00000545799;ENST00000447928	T;T;T	0.18960	2.18;2.18;2.18	5.66	-2.03	0.07365	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.399207	0.32081	N	0.006611	T	0.16557	0.0398	L	0.35854	1.095	0.47341	D	0.999393	B;B	0.33826	0.427;0.196	B;B	0.36504	0.226;0.162	T	0.06303	-1.0834	10	0.62326	D	0.03	.	12.3598	0.55197	0.0:0.4555:0.0:0.5445	.	158;202	B7Z3T5;P98153	.;IDD_HUMAN	L	161;202;199;202	ENSP00000440062:R161L;ENSP00000263196:R202L;ENSP00000445069:R199L	ENSP00000263196:R202L	R	-	2	0	DGCR2	17430735	0.973000	0.33851	0.958000	0.39756	0.716000	0.41182	0.164000	0.16542	-0.258000	0.09446	-0.253000	0.11424	CGC		TCGA-FB-AAPS-01A-12D-A397-08	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	1	0	0	7	116	0	35	1	7.143354e-01	2	40	0	35	2		0	0	0	0	0	2	1	0.980487	7	114	0	35	2		0	0	0	0	0	2	-10.572680	1	1	0	0		1	1	2	3	2.034923	0	0.100000	2	0.113300	0.990000	0.560000	1.000000	1.000000	0.945300	0.990000	1	0.850000	1.000000
MIOX	55586	broad.mit.edu	37	22	50926164	50926164	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr22:50926164G>A	ENST00000216075.6	+	3	244	c.170G>A	c.(169-171)aGg>aAg	p.R57K	MIOX_ENST00000395732.3_Missense_Mutation_p.R57K|MIOX_ENST00000395733.3_Missense_Mutation_p.R57K	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase			13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			GACTTCGTCAGGAGCAAGGTA	0.657000																								0							SO:0001583	missense			ENST00000216075.6	0	1	hg19	CCDS14092.1	.	.	.	.	.	.	.	.	.	.	G	1.319	-0.599983	0.03744	.	.	ENSG00000100253	ENST00000395733;ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	4.38	1.07	0.20283	.	0.221539	0.46145	D	0.000306	T	0.08714	0.0216	N	0.05050	-0.12	0.23023	N	0.998415	B;B;B	0.26708	0.157;0.001;0.0	B;B;B	0.15484	0.013;0.003;0.002	T	0.31138	-0.9954	9	0.02654	T	1	-12.0146	3.2253	0.06730	0.3012:0.0:0.5132:0.1857	.	57;57;57	Q9UGB7-2;A6PVH2;Q9UGB7	.;.;MIOX_HUMAN	K	57;57;57;52	.	ENSP00000216075:R57K	R	+	2	0	MIOX	49273030	0.973000	0.33851	0.254000	0.24359	0.539000	0.34962	2.035000	0.41155	0.107000	0.17824	0.491000	0.48974	AGG		TCGA-FB-AAPS-01A-12D-A397-08	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316835.1	0	0	0	4	200	0	37		0	0	0	0	37	2		0	0	0	0	0	2	1	0.886503	4	196	0	36	2		0	0	0	0	0	2	-5.710787	1	1	0	0		1	1	2	3	2.003670	0	0.100000	2	0.106256	0.460000	0.150000	1.000000	0.380000	0.526200	0.460000	0	0.270000	0.840000
MAP4K4	9448	broad.mit.edu	37	2	102486181	102486181	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:102486181C>T	ENST00000347699.4	+	20	2318	c.2318C>T	c.(2317-2319)aCg>aTg	p.T773M	MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000456652.1_Missense_Mutation_p.T572M|MAP4K4_ENST00000350198.4_Missense_Mutation_p.T692M|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T742M|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T854M|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T749M|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T576M|MAP4K4_ENST00000413150.2_Missense_Mutation_p.T688M	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4			41					GAGTCGGGGACGACGGATGAG	0.582000																								0							SO:0001583	missense			ENST00000347699.4	0	1	hg19	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394360	0.83011	.	.	ENSG00000071054	ENST00000425019;ENST00000324219;ENST00000350198;ENST00000302217;ENST00000413150;ENST00000456652;ENST00000347699;ENST00000417294;ENST00000350878	T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.85204	0.5643	L	0.47716	1.5	0.48632	D	0.999681	D;D;P;D;D;D;D;D;D;D	0.89917	0.998;0.996;0.573;0.996;0.998;1.0;1.0;0.998;1.0;0.998	P;P;B;P;P;D;D;P;D;D	0.81914	0.858;0.764;0.051;0.764;0.881;0.98;0.995;0.881;0.956;0.938	D	0.86374	0.1725	10	0.66056	D	0.02	.	18.7238	0.91705	0.0:1.0:0.0:0.0	.	749;769;572;576;691;773;742;692;745;854	B7Z388;B7Z3V5;E7EX83;C9J840;O95819-4;O95819;E7EN19;G3XAA2;O95819-2;G5E948	.;.;.;.;.;M4K4_HUMAN;.;.;.;.	M	742;854;692;576;688;572;773;704;749	ENSP00000392830:T742M;ENSP00000313644:T854M;ENSP00000281111:T692M;ENSP00000303600:T576M;ENSP00000389752:T688M;ENSP00000387370:T572M;ENSP00000314363:T773M;ENSP00000409720:T704M;ENSP00000343658:T749M	ENSP00000303600:T576M	T	+	2	0	MAP4K4	101852613	1.000000	0.71417	0.957000	0.39632	0.950000	0.60333	4.574000	0.60900	2.420000	0.82092	0.563000	0.77884	ACG		TCGA-FB-AAPS-01A-12D-A397-08	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	0	0	0	3	49	0	11	0	9.508411e-01	0	100	0	11	2		0	0	0	0	0	2	1	0.812588	3	49	0	11	2		0	0	0	0	0	2	-7.425266	1	1	0	0		1	1	2	3	2.009522	0	0.100000	2	0.107586	0.990000	0.370000	1.000000	1.000000	0.901463	0.990000	1	0.710000	1.000000
TTN	7273	broad.mit.edu	37	2	179444687	179444687	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:179444687G>A	ENST00000591111.1	-	268	62628	c.62404C>T	c.(62404-62406)Cgt>Tgt	p.R20802C	RP11-171I2.2_ENST00000603521.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R19875C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R13378C|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22443C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13570C|TTN_ENST00000359218.5_Missense_Mutation_p.R13503C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin			1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		ACAGCATCACGAGTTTCACCG	0.413000																								0							SO:0001583	missense			ENST00000591111.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	10.79	1.448776	0.26074	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.53857	0.6;0.6;0.6;0.6	5.1	5.1	0.69264	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41511	0.1162	N	0.04880	-0.145	0.45354	D	0.998348	D;D;D;D	0.69078	0.99;0.99;0.99;0.997	P;P;P;P	0.47299	0.543;0.543;0.543;0.543	T	0.55648	-0.8108	9	0.87932	D	0	.	18.8515	0.92232	0.0:0.0:1.0:0.0	.	13378;13503;13570;20802	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	19875;13378;13570;13503;13376	ENSP00000343764:R19875C;ENSP00000434586:R13378C;ENSP00000340554:R13570C;ENSP00000352154:R13503C	ENSP00000340554:R13570C	R	-	1	0	TTN	179152933	0.997000	0.39634	0.998000	0.56505	0.988000	0.76386	3.412000	0.52679	2.525000	0.85131	0.313000	0.20887	CGT		TCGA-FB-AAPS-01A-12D-A397-08	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	1	0	0	28	337	0	100	0	6.441772e-03	0	2	0	100	2		0	0	0	0	0	2	1	1.000000	28	335	0	99	2		0	0	0	0	0	2	-2.879461	1	1	0	0		1	1	2	3	2.009522	0	0.100000	2	0.107586	0.990000	0.990000	1.000000	1.000000	0.999241	0.990000	1	0.990000	1.000000
APOB	338	broad.mit.edu	37	2	21234547	21234547	+	Silent	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:21234547G>T	ENST00000233242.1	-	26	5320	c.5193C>A	c.(5191-5193)gtC>gtA	p.V1731V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B			305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CTTCTTGACTGACCTTGAAGT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000233242.1	1	1	hg19	CCDS1703.1																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	1	0	0	42	824	0	175		0	0	0	0	175	2		0	0	0	0	0	2	1	1.000000	41	819	0	175	2		0	0	0	0	0	2	-5.403890	1	1	121412	1	35	1	1	2	3	2.009522	0	0.100000	2	0.107586	0.990000	0.720000	1.000000	1.000000	0.944420	0.990000	1	0.850000	1.000000
SPHKAP	80309	broad.mit.edu	37	2	228882781	228882781	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:228882781G>A	ENST00000392056.3	-	7	2835	c.2789C>T	c.(2788-2790)gCg>gTg	p.A930V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	p.A930V(2)		185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)			TAATTCTTCCGCAAAGTCTGT	0.473000																								2	Substitution - Missense(2)						SO:0001583	missense			ENST00000392056.3	0	1	hg19	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036317	0.75617	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.27557	1.68;1.66	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.60521	0.2275	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61058	-0.7139	10	0.87932	D	0	.	19.6516	0.95815	0.0:0.0:1.0:0.0	.	930;930	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	V	930	ENSP00000375909:A930V;ENSP00000339886:A930V	ENSP00000339886:A930V	A	-	2	0	SPHKAP	228591025	1.000000	0.71417	0.980000	0.43619	0.385000	0.30292	9.096000	0.94182	2.894000	0.99253	0.655000	0.94253	GCG		TCGA-FB-AAPS-01A-12D-A397-08	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	0	0	0	6	613	1	129		0	0	0	1	129	2		0	0	0	0	0	2	0	0.016049	6	611	1	129	17		0	0	0	0	0	2	-2.073107	0	1	0	0		1	1	2	3	2.009522	0	0.100000	2	0.107586	0.220000	0.080000	1.000000	0.190000	0.327103	0.220000	0	0.140000	0.400000
LHCGR	3973	broad.mit.edu	37	2	48915275	48915275	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr2:48915275C>T	ENST00000294954.7	-	11	1682	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	LHCGR_ENST00000344775.3_Missense_Mutation_p.R492Q|LHCGR_ENST00000401907.1_Silent_p.S317S|LHCGR_ENST00000405626.1_Missense_Mutation_p.R527Q|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor			56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TTCTGGGTTTCGAACTGCAAA	0.368000																								0							SO:0001583	missense			ENST00000294954.7	1	1	hg19	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255868	0.22965	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.42131	0.98;0.98;0.98	5.68	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	0.241683	0.44285	N	0.000473	T	0.34861	0.0912	L	0.60904	1.88	0.27994	N	0.93555	B	0.14012	0.009	B	0.10450	0.005	T	0.22977	-1.0201	9	.	.	.	.	8.7189	0.34428	0.0:0.2173:0.0:0.7827	.	554	P22888	LSHR_HUMAN	Q	492;554;527	ENSP00000344301:R492Q;ENSP00000294954:R554Q;ENSP00000386033:R527Q	.	R	-	2	0	LHCGR	48768779	0.996000	0.38824	1.000000	0.80357	0.892000	0.51952	0.438000	0.21559	0.444000	0.26612	-1.273000	0.01405	CGA		TCGA-FB-AAPS-01A-12D-A397-08	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	1	0	0	19	338	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.999992	19	338	0	87	2		0	0	0	0	0	2	-5.207089	1	1	121410	5	38	1	1	2	3	2.009522	0	0.100000	2	0.107586	0.990000	0.680000	1.000000	1.000000	0.955799	0.990000	1	0.870000	1.000000
SETD2	29072	broad.mit.edu	37	3	47098594	47098594	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr3:47098594G>A	ENST00000409792.3	-	15	6722	c.6680C>T	c.(6679-6681)cCa>cTa	p.P2227L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2			141		Acute lymphoblastic leukemia(5;0.0169)			TGCCACATGTGGCACCACTGG	0.552000			N, F, S, Mis		clear cell renal carcinoma										Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0							SO:0001583	missense			ENST00000409792.3	0	1	hg19	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607273	0.46527	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.40476	1.03	5.1	4.16	0.48862	.	0.230823	0.30556	N	0.009361	T	0.21509	0.0518	N	0.08118	0	0.36605	D	0.874906	B;B	0.32245	0.361;0.361	B;B	0.27608	0.081;0.081	T	0.21280	-1.0250	10	0.46703	T	0.11	.	11.2548	0.49048	0.0:0.0:0.6575:0.3425	.	2227;2227	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	2227	ENSP00000386759:P2227L	ENSP00000386759:P2227L	P	-	2	0	SETD2	47073598	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.205000	0.51090	2.814000	0.96858	0.655000	0.94253	CCA		TCGA-FB-AAPS-01A-12D-A397-08	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	0	0	0	4	178	0	43	0	2.751910e-01	0	38	0	43	2		0	0	0	0	0	2	1	0.888672	3	177	0	42	2		0	0	0	0	0	2	-6.023894	1	0	0	0		1	0	1	1	1.893915	1	0.100000	2	0.057098	0.430000	0.150000	0.870000	0.390000	0.466928	0.430000	0	0.260000	0.660000
SYNPO2	171024	broad.mit.edu	37	4	119978661	119978661	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:119978661G>A	ENST00000307142.4	+	5	3554	c.3358G>A	c.(3358-3360)Gat>Aat	p.D1120N	SYNPO2_ENST00000448416.2_Silent_p.P121P	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2			64					TAAACCAACCGATGGACTAGA	0.488000																								0							SO:0001583	missense			ENST00000307142.4	1	1	hg19	CCDS34054.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.142|9.142	1.014167|1.014167	0.19277|0.19277	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142|ENST00000504178	T|.	0.07800|.	3.16|.	5.7|5.7	0.624|0.624	0.17659|0.17659	.|.	0.847324|.	0.09877|.	N|.	0.744219|.	T|T	0.19446|0.19446	0.0467|0.0467	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	B;B|.	0.29253|.	0.154;0.239|.	B;B|.	0.14023|.	0.006;0.01|.	T|T	0.21381|0.21381	-1.0247|-1.0247	9|5	.|.	.|.	.|.	-2.2565|-2.2565	1.0387|1.0387	0.01554|0.01554	0.1675:0.2459:0.2102:0.3763|0.1675:0.2459:0.2102:0.3763	.|.	1120;1120|.	B9EG60;Q9UMS6-2|.	.;.|.	N|Q	1120|1013	ENSP00000306015:D1120N|.	.|.	D|R	+|+	1|2	0|0	SYNPO2|SYNPO2	120198109|120198109	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.357000|0.357000	0.20199|0.20199	0.051000|0.051000	0.15978|0.15978	0.655000|0.655000	0.94253|0.94253	GAT|CGA		TCGA-FB-AAPS-01A-12D-A397-08	SYNPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364018.1	1	0	0	22	371	0	83	0	1.943950e-02	0	4	0	83	2		0	0	0	0	0	2	1	0.999999	21	371	0	81	2		0	0	0	0	0	2	-3.317620	1	1	0	0		1	1	2	3	2.020384	0	0.100000	2	0.110232	0.990000	0.750000	1.000000	1.000000	0.973398	0.990000	1	0.940000	1.000000
SCD5	79966	broad.mit.edu	37	4	83719510	83719510	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr4:83719510C>T	ENST00000319540.4	-	1	500	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	SCD5_ENST00000273908.4_Missense_Mutation_p.V61M|SCD5_ENST00000282709.4_Missense_Mutation_p.V61M	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5			13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)			AGGGAGTACACGGCCCCCAAG	0.711000																								0							SO:0001583	missense			ENST00000319540.4	0	1	hg19	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782740	0.70222	.	.	ENSG00000145284	ENST00000319540;ENST00000273908;ENST00000282709	T	0.49432	0.78	4.77	0.537	0.17144	.	0.566432	0.17256	N	0.180944	T	0.56217	0.1970	L	0.51422	1.61	0.32879	D	0.510265	D;D;D	0.76494	0.999;0.998;0.963	D;D;P	0.65233	0.913;0.933;0.489	T	0.64859	-0.6308	10	0.72032	D	0.01	0.0619	10.0677	0.42315	0.1298:0.4496:0.4206:0.0	.	61;61;61	Q9BSN4;Q86SK9-2;Q86SK9	.;.;SCD5_HUMAN	M	61	ENSP00000316329:V61M	ENSP00000273908:V61M	V	-	1	0	SCD5	83938534	0.797000	0.28877	0.996000	0.52242	0.989000	0.77384	0.069000	0.14552	0.158000	0.19367	0.542000	0.68232	GTG		TCGA-FB-AAPS-01A-12D-A397-08	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	0	0	0	4	226	0	45	0	4.524183e-02	0	15	0	45	2		0	0	0	0	0	2	1	0.889083	4	224	0	45	2		0	0	0	0	0	2	-3.180008	1	1	0	0		1	1	2	3	2.020384	0	0.100000	2	0.110232	0.430000	0.130000	1.000000	0.340000	0.517930	0.430000	0	0.250000	1.000000
FTMT	94033	broad.mit.edu	37	5	121187809	121187809	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:121187809G>A	ENST00000321339.1	+	1	160	c.151G>A	c.(151-153)Gca>Aca	p.A51T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial			33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)		CCCCCTGGCCGCAGCCGCCTC	0.771000																								0							SO:0001583	missense			ENST00000321339.1	0	1	hg19	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491220	0.26774	4.92E-4	0.0	ENSG00000181867	ENST00000321339	T	0.64618	-0.11	3.46	-6.93	0.01638	.	.	.	.	.	T	0.36963	0.0986	L	0.27053	0.805	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.16276	-1.0408	9	0.20046	T	0.44	.	3.7474	0.08554	0.1643:0.0997:0.1353:0.6006	.	51	Q8N4E7	FTMT_HUMAN	T	51	ENSP00000313691:A51T	ENSP00000313691:A51T	A	+	1	0	FTMT	121215708	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.539000	0.06113	-1.953000	0.01026	0.650000	0.86243	GCA		TCGA-FB-AAPS-01A-12D-A397-08	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	1	0	0	9	46	0	9		0	0	0	0	9	2		0	0	0	0	0	2	1	0.995547	9	46	0	9	2		0	0	0	0	0	2	-17.609310	1	1	117630	4	30	1	1	2	3	2.012762	0	0.100000	2	0.108470	0.990000	0.990000	1.000000	1.000000	0.999430	0.990000	1	0.990000	1.000000
CHSY3	337876	broad.mit.edu	37	5	129520070	129520070	+	Missense_Mutation	SNP	G	G	A	rs140992502		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:129520070G>A	ENST00000305031.4	+	3	1593	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3			28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		ATGCTCAGCCGCAAAATTTCT	0.478000																								0							SO:0001583	missense			ENST00000305031.4	0	1	hg19	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.647807	0.87958	0.0	2.33E-4	ENSG00000198108	ENST00000305031	T	0.15834	2.39	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000016	T	0.27241	0.0668	M	0.65975	2.015	0.80722	D	1	P	0.48998	0.918	P	0.45998	0.5	T	0.03017	-1.1082	9	.	.	.	-2.8659	18.5119	0.90920	0.0:0.0:1.0:0.0	.	412	Q70JA7	CHSS3_HUMAN	H	412	ENSP00000302629:R412H	.	R	+	2	0	CHSY3	129547969	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.601000	0.98297	2.779000	0.95612	0.650000	0.86243	CGC		TCGA-FB-AAPS-01A-12D-A397-08	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	0	0	0	5	323	0	68	0	5.515068e-02	0	20	0	68	2		0	0	0	0	0	2	1	0.936998	5	321	0	68	2		0	0	0	0	0	2	-2.304637	0	1	121412	22	45	1	1	2	3	2.012762	0	0.100000	2	0.108470	0.360000	0.130000	1.000000	0.290000	0.451263	0.360000	0	0.220000	0.730000
FAT2	2196	broad.mit.edu	37	5	150932824	150932824	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:150932824G>A	ENST00000261800.5	-	5	4082	c.4070C>T	c.(4069-4071)aCg>aTg	p.T1357M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2			196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		CTCCATGACCGTAAAGCTGTA	0.587000																								0							SO:0001583	missense			ENST00000261800.5	0	1	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942923	0.73672	.	.	ENSG00000086570	ENST00000261800	T	0.54071	0.59	5.38	4.47	0.54385	Cadherin (3);Cadherin-like (1);	0.325213	0.25762	N	0.028464	T	0.63343	0.2503	M	0.74881	2.28	0.09310	N	0.999997	D	0.63880	0.993	P	0.55055	0.767	T	0.59257	-0.7488	10	0.66056	D	0.02	.	10.3587	0.43980	0.0:0.1453:0.704:0.1507	.	1357	Q9NYQ8	FAT2_HUMAN	M	1357	ENSP00000261800:T1357M	ENSP00000261800:T1357M	T	-	2	0	FAT2	150913017	0.967000	0.33354	0.795000	0.32087	0.986000	0.74619	5.130000	0.64745	2.524000	0.85096	0.561000	0.74099	ACG		TCGA-FB-AAPS-01A-12D-A397-08	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	0	0	0	5	331	1	72	0	2.130984e-03	0	4	1	72	2		0	0	0	0	0	2	0	0.011315	5	328	1	70	16		0	0	0	0	0	2	-2.411124	0	1	121412	3	37	1	1	2	3	2.012762	0	0.100000	2	0.108470	0.350000	0.120000	1.000000	0.290000	0.444216	0.350000	0	0.210000	0.710000
SNCB	6620	broad.mit.edu	37	5	176053513	176053513	+	Silent	SNP	A	A	G	rs111621148		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr5:176053513A>G	ENST00000310112.3	-	5	418	c.168T>C	c.(166-168)gcT>gcC	p.A56A	MIR4281_ENST00000580852.1_RNA|SNCB_ENST00000506696.1_Silent_p.A56A|SNCB_ENST00000393693.2_Silent_p.A56A|SNCB_ENST00000510387.1_Silent_p.A56A	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta			10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		TGGTTTTTTCAGCCACTGGAG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000310112.3	0	1	hg19	CCDS4406.1																																																																																				TCGA-FB-AAPS-01A-12D-A397-08	SNCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253152.2	0	0	0	4	186	0	38	0	0	0	1	0	38	2		0	0	0	0	0	2	1	0.878077	4	176	0	35	2		0	0	0	0	0	2	-3.483445	1	1	0	0		1	1	2	3	2.012762	0	0.100000	2	0.108470	0.510000	0.160000	1.000000	1.000000	0.572164	0.510000	0	0.300000	1.000000
RREB1	6239	broad.mit.edu	37	6	7229268	7229268	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229268G>T	ENST00000349384.6	+	10	1250	c.936G>T	c.(934-936)gaG>gaT	p.E312D	RREB1_ENST00000379938.2_Missense_Mutation_p.E312D|RREB1_ENST00000334984.6_Missense_Mutation_p.E312D|RREB1_ENST00000379933.3_Missense_Mutation_p.E312D	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			GCATCAGCGAGCAACACCGTT	0.522000																								0							SO:0001583	missense			ENST00000349384.6	1	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.21	1.287328	0.23478	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.71	2.22	0.28083	.	0.107300	0.39407	N	0.001366	T	0.16685	0.0401	N	0.13140	0.3	0.33872	D	0.635106	B;B;B	0.22604	0.03;0.072;0.058	B;B;B	0.29353	0.101;0.043;0.022	T	0.03933	-1.0991	10	0.46703	T	0.11	-48.8501	0.7439	0.00979	0.3902:0.1627:0.2814:0.1657	.	312;312;312	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	D	312	ENSP00000369265:E312D;ENSP00000369270:E312D;ENSP00000305560:E312D;ENSP00000335574:E312D;ENSP00000419511:E312D	ENSP00000335574:E312D	E	+	3	2	RREB1	7174267	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.151000	0.42263	0.645000	0.30675	0.462000	0.41574	GAG		TCGA-FB-AAPS-01A-12D-A397-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	0	11	196	0	34	0	4.460308e-02	0	6	0	34	2		0	0	0	0	0	2	1	0.998428	11	195	0	34	2		0	0	0	0	0	2	-13.744850	1	1	0	0		1	1	2	3	2.013121	0	0.100000	2	0.108470	0.990000	0.590000	1.000000	1.000000	0.939806	0.990000	1	0.830000	1.000000
RREB1	6239	broad.mit.edu	37	6	7229269	7229269	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr6:7229269C>T	ENST00000349384.6	+	10	1251	c.937C>T	c.(937-939)Caa>Taa	p.Q313*	RREB1_ENST00000379938.2_Nonsense_Mutation_p.Q313*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q313*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q313*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1			58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)			CATCAGCGAGCAACACCGTTT	0.522000																								0							SO:0001587	stop_gained			ENST00000349384.6	0	1	hg19	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	38	6.868490	0.97897	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	5.71	4.74	0.60224	.	0.453195	0.18047	N	0.153432	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-45.1168	3.769	0.08635	0.0:0.664:0.0:0.336	.	.	.	.	X	313	.	ENSP00000335574:Q313X	Q	+	1	0	RREB1	7174268	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	5.726000	0.68515	2.701000	0.92244	0.462000	0.41574	CAA		TCGA-FB-AAPS-01A-12D-A397-08	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	1	0	0	12	196	0	34	0	5.092807e-02	0	6	0	34	2		0	0	0	0	0	2	1	0.999176	12	195	0	34	2		0	0	0	0	0	2	-15.184970	1	1	0	0		1	1	2	3	2.013121	0	0.100000	2	0.108470	0.990000	0.660000	1.000000	1.000000	0.961217	0.990000	1	0.900000	1.000000
KRBA1	84626	broad.mit.edu	37	7	149421894	149421894	+	Silent	SNP	A	A	G			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:149421894A>G	ENST00000485033.2	+	8	1080	c.1080A>G	c.(1078-1080)ggA>ggG	p.G360G	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Silent_p.G360G|KRBA1_ENST00000319551.8_Silent_p.G360G			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1			27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)		CAGCCACTGGAGACACCAGAG	0.642000																								0							SO:0001819	synonymous_variant			ENST00000485033.2	0	1	hg19																																																																																					TCGA-FB-AAPS-01A-12D-A397-08	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	0	0	0	3	59	0	11	0	1.786021e-01	0	12	0	11	2		0	0	0	0	0	2	1	0.812562	3	59	0	11	2		0	0	0	0	0	2	-7.435300	1	1	120398	1	23	1	1	2	3	2.014117	0	0.100000	2	0.108911	0.990000	0.320000	1.000000	1.000000	0.869622	0.990000	1	0.630000	1.000000
HECW1	23072	broad.mit.edu	37	7	43484438	43484438	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr7:43484438C>T	ENST00000395891.2	+	11	2272	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L	HECW1_ENST00000453890.1_Missense_Mutation_p.P556L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1			125					CCCGAGACCCCGCGGACACAC	0.692000																								0							SO:0001583	missense			ENST00000395891.2	1	1	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	28.8	4.948443	0.92593	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.53857	0.82;0.6	5.32	5.32	0.75619	.	0.268140	0.43747	D	0.000526	T	0.69797	0.3151	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.66288	-0.5961	10	0.33141	T	0.24	.	19.0047	0.92846	0.0:1.0:0.0:0.0	.	556;556	B4DH42;Q76N89	.;HECW1_HUMAN	L	556	ENSP00000379228:P556L;ENSP00000407774:P556L	ENSP00000265522:P556L	P	+	2	0	HECW1	43450963	1.000000	0.71417	0.772000	0.31596	0.952000	0.60782	7.680000	0.84062	2.475000	0.83589	0.655000	0.94253	CCG		TCGA-FB-AAPS-01A-12D-A397-08	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	0	17	275	0	54	0	0	0	1	0	54	2		0	0	0	0	0	2	1	0.999965	17	271	0	54	2		0	0	0	0	0	2	-2.430770	0	1	120980	2	33	1	1	2	3	2.014117	0	0.100000	2	0.108911	0.990000	0.730000	1.000000	1.000000	0.973234	0.990000	1	0.950000	1.000000
CSMD1	64478	broad.mit.edu	37	8	4494899	4494899	+	Silent	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:4494899G>A	ENST00000520002.1	-	2	822	c.267C>T	c.(265-267)taC>taT	p.Y89Y	CSMD1_ENST00000542608.1_Silent_p.Y89Y|CSMD1_ENST00000602557.1_Silent_p.Y89Y|CSMD1_ENST00000537824.1_Silent_p.Y89Y|CSMD1_ENST00000400186.3_Silent_p.Y89Y|CSMD1_ENST00000602723.1_Silent_p.Y89Y|CSMD1_ENST00000539096.1_Silent_p.Y89Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1			25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)			GCTGTCCATCGTAAACTGATA	0.378000																								0							SO:0001819	synonymous_variant			ENST00000520002.1	1	1	hg19																																																																																					TCGA-FB-AAPS-01A-12D-A397-08	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	1	0	0	23	437	0	105		0	0	0	0	105	2		0	0	0	0	0	2	1	0.999999	23	431	0	105	2		0	0	0	0	0	2	-3.310993	1	1	120802	5	39	1	1	2	3	2.016160	0	0.100000	2	0.109352	0.990000	0.670000	1.000000	1.000000	0.944592	0.990000	1	0.840000	1.000000
MOS	4342	broad.mit.edu	37	8	57025548	57025548	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:57025548G>A	ENST00000311923.1	-	1	993	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog			22			Epithelial(17;0.00117)|all cancers(17;0.00879)		AAAAGCAGCCGCGCGCTCGGC	0.572000													Esophageal Squamous(124;373 2870 4778)											0							SO:0001583	missense			ENST00000311923.1	1	1	hg19	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488891	0.64074	.	.	ENSG00000172680	ENST00000311923	T	0.66995	-0.24	5.8	4.02	0.46733	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.731480	0.03583	N	0.230552	T	0.77651	0.4162	L	0.53729	1.69	0.09310	N	1	P	0.51791	0.948	P	0.57057	0.812	T	0.59118	-0.7514	10	0.87932	D	0	.	11.5859	0.50918	0.0:0.8023:0.13:0.0677	.	332	P00540	MOS_HUMAN	W	332	ENSP00000310722:R332W	ENSP00000310722:R332W	R	-	1	2	MOS	57188102	0.000000	0.05858	0.002000	0.10522	0.053000	0.15095	0.330000	0.19715	0.818000	0.34468	-0.311000	0.09066	CGG		TCGA-FB-AAPS-01A-12D-A397-08	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	0	0	0	8	207	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	0.989568	8	206	0	47	2		0	0	0	0	0	2	-4.010672	1	1	0	0		1	1	2	3	2.020077	0	0.100000	2	0.110232	0.840000	0.380000	1.000000	1.000000	0.806727	0.840000	0	0.570000	1.000000
SGK223	0	broad.mit.edu	37	8	8176529	8176529	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr8:8176529C>T	ENST00000520004.1	-	6	3620	c.3356G>A	c.(3355-3357)cGc>cAc	p.R1119H	SGK223_ENST00000330777.4_Missense_Mutation_p.R1119H			Q86YV5	SG223_HUMAN									GAAGCACACGCGCCGCTCGTA	0.667000													GBM(34;731 755 10259 33573 33867)											0							SO:0001583	missense			ENST00000520004.1	1	1	hg19	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426873	0.83667	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.65178	-0.14;-0.14	5.48	4.58	0.56647	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053692	0.85682	D	0.000000	T	0.68531	0.3011	L	0.36672	1.1	0.44042	D	0.996772	D	0.89917	1.0	D	0.91635	0.999	T	0.69339	-0.5171	10	0.66056	D	0.02	.	10.7678	0.46303	0.0:0.8505:0.0:0.1495	.	1119	Q86YV5	SG223_HUMAN	H	1119	ENSP00000330930:R1119H;ENSP00000428054:R1119H	ENSP00000330930:R1119H	R	-	2	0	AC068353.1	8213939	0.883000	0.30277	1.000000	0.80357	0.979000	0.70002	1.757000	0.38400	2.750000	0.94351	0.467000	0.42956	CGC		TCGA-FB-AAPS-01A-12D-A397-08	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1	1	0	0	35	663	0	146	1	3.507502e-01	3	21	0	146	2		0	0	0	0	0	2	1	1.000000	35	659	0	144	2		0	0	0	0	0	2	-20.000000	1	1	0	0		1	1	2	3	2.020077	0	0.100000	2	0.110232	0.990000	0.730000	1.000000	1.000000	0.956312	0.990000	1	0.870000	1.000000
RPL12	6136	broad.mit.edu	37	9	130213570	130213570	+	Missense_Mutation	SNP	C	C	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:130213570C>A	ENST00000361436.5	-	1	114	c.27G>T	c.(25-27)gaG>gaT	p.E9D	LRSAM1_ENST00000373324.4_5'Flank|LRSAM1_ENST00000300417.6_5'Flank|LRSAM1_ENST00000373322.1_5'Flank|LRSAM1_ENST00000323301.4_5'Flank|SNORA65_ENST00000364432.1_RNA|RPL12_ENST00000497322.1_5'UTR|RPL12_ENST00000536368.1_Missense_Mutation_p.E9D	NM_000976.3	NP_000967.1	P30050	RL12_HUMAN	ribosomal protein L12			4					CGACTTTGATCTCGTTGGGGT	0.642000																								0							SO:0001583	missense			ENST00000361436.5	0	1	hg19	CCDS6872.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697336	0.68386	.	.	ENSG00000197958	ENST00000361436;ENST00000536368	.	.	.	5.58	1.42	0.22433	Ribosomal protein L11, N-terminal (2);	0.000000	0.85682	U	0.000000	T	0.61515	0.2353	M	0.80508	2.5	0.45318	D	0.998318	B;B	0.17038	0.02;0.002	B;B	0.25987	0.065;0.006	T	0.58364	-0.7649	9	0.51188	T	0.08	0.0134	8.795	0.34874	0.0:0.652:0.0:0.348	.	9;9	P30050-2;P30050	.;RL12_HUMAN	D	9	.	ENSP00000354739:E9D	E	-	3	2	RPL12	129253391	0.929000	0.31497	0.998000	0.56505	0.998000	0.95712	0.418000	0.21230	0.247000	0.21414	0.561000	0.74099	GAG		TCGA-FB-AAPS-01A-12D-A397-08	RPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054189.1	0	0	0	6	298	0	78	1	9.999974e-01	12	2196	0	78	2		0	0	0	0	0	2	1	0.965028	6	297	0	77	2		0	0	0	0	0	2	-6.607434	1	1	0	0		1	0	0	0	1.896116	1	0.100000	2	0.044586	0.370000	0.150000	0.690000	0.350000	0.397356	0.370000	0	0.250000	0.530000
CERCAM	51148	broad.mit.edu	37	9	131186737	131186737	+	Missense_Mutation	SNP	C	C	T	rs143495365		TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08			C	T	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:131186737C>T	ENST00000372838.4	+	5	1008	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CERCAM_ENST00000372842.1_Missense_Mutation_p.R126C	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule			20					GAACCGCCAGCGCCGGGGCTG	0.647000																								0							SO:0001583	missense			ENST00000372838.4	1	1	hg19	CCDS6901.2	.	.	.	.	.	.	.	.	.	.	C	34	5.312852	0.95655	2.27E-4	0.0	ENSG00000167123	ENST00000372842;ENST00000420512;ENST00000372838;ENST00000413863	T;T;T	0.20738	2.05;2.05;2.05	4.9	4.9	0.64082	.	0.119685	0.56097	D	0.000026	T	0.44540	0.1298	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	P	0.55455	0.776	T	0.52586	-0.8556	10	0.87932	D	0	-2.5648	16.8166	0.85735	0.0:1.0:0.0:0.0	.	204	Q5T4B2	GT253_HUMAN	C	126;126;204;157	ENSP00000361933:R126C;ENSP00000416676:R126C;ENSP00000361929:R204C	ENSP00000361929:R204C	R	+	1	0	CERCAM	130226558	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.680000	0.54641	2.543000	0.85770	0.467000	0.42956	CGC		TCGA-FB-AAPS-01A-12D-A397-08	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054435.2	0	0	0	12	293	0	68	0	9.999124e-01	1	425	0	68	2		0	0	0	0	0	2	1	0.998795	12	275	0	64	2		0	0	0	0	0	2	-3.284561	1	1	121412	1	30	1	0	0	0	1.896116	1	0.100000	2	0.044586	0.650000	0.380000	0.830000	0.700000	0.645453	0.650000	0	0.510000	0.780000
TMEM215	401498	broad.mit.edu	37	9	32784266	32784266	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chr9:32784266G>A	ENST00000342743.5	+	2	450	c.85G>A	c.(85-87)Gtc>Atc	p.V29I		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215			12					CATGTTCACCGTCTCTGGGAT	0.582000																								0							SO:0001583	missense			ENST00000342743.5	1	1	hg19	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343493	0.41498	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.31	4.39	0.52855	.	0.000000	0.64402	D	0.000011	T	0.40171	0.1106	L	0.27053	0.805	0.42899	D	0.994226	P	0.49635	0.926	B	0.40038	0.317	T	0.44847	-0.9301	9	0.87932	D	0	-24.8349	13.4943	0.61416	0.0:0.1582:0.8418:0.0	.	29	Q68D42	TM215_HUMAN	I	29	.	ENSP00000345468:V29I	V	+	1	0	TMEM215	32774266	1.000000	0.71417	0.869000	0.34112	0.936000	0.57629	7.480000	0.81109	1.185000	0.42971	0.462000	0.41574	GTC		TCGA-FB-AAPS-01A-12D-A397-08	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	1	0	0	13	261	0	60	0	2.746822e-03	0	2	0	60	2		0	0	0	0	0	2	1	0.999547	13	259	0	60	2		0	0	0	0	0	2	-4.719854	1	1	0	0		1	0	0	0	1.959414	0	0.100000	2	0.075026	0.900000	0.510000	1.000000	1.000000	0.867744	0.900000	1	0.690000	1.000000
ACSL4	2182	broad.mit.edu	37	X	108924283	108924283	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:108924283C>T	ENST00000469796.2	-	6	1118	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ACSL4_ENST00000348502.6_Missense_Mutation_p.G200E|ACSL4_ENST00000340800.2_Missense_Mutation_p.G241E			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4			22				Icosapent(DB00159)|Rosiglitazone(DB00412)	AATCTCAAATCCTTCAGGGTA	0.343000													Pancreas(188;358 2127 38547 41466 45492)											0							SO:0001583	missense			ENST00000469796.2	1	1	hg19	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050788	0.75960	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.38560	1.13;1.13;1.13	6.04	6.04	0.98038	AMP-dependent synthetase/ligase (1);	0.257801	0.44097	D	0.000485	T	0.57666	0.2069	M	0.78223	2.4	0.58432	D	0.999997	P	0.35575	0.51	P	0.47705	0.555	T	0.61013	-0.7148	10	0.72032	D	0.01	-15.5815	13.0039	0.58692	0.0:0.9159:0.0:0.0841	.	241	O60488	ACSL4_HUMAN	E	200;241;241	ENSP00000262835:G200E;ENSP00000419171:G241E;ENSP00000339787:G241E	ENSP00000339787:G241E	G	-	2	0	ACSL4	108810939	0.998000	0.40836	1.000000	0.80357	0.665000	0.39181	3.776000	0.55356	2.555000	0.86185	0.513000	0.50165	GGA		TCGA-FB-AAPS-01A-12D-A397-08	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	1	0	1	53	457	0	103	0	5.447140e-01	0	17	0	103	2		0	0	0	0	0	2	1	1.000000	52	455	0	103	2		0	0	0	0	0	2	-17.487650	1	1	0	0		1	0	1	1			0.100000	2	0.100000	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
CNGA2	1260	broad.mit.edu	37	X	150912423	150912423	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2			49	Acute lymphoblastic leukemia(192;6.56e-05)				tacatttgccgcaaaggggac	0.527000																								0							SO:0001583	missense			ENST00000329903.4	0	1	hg19	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205767	0.58234	0.001304	0.0	ENSG00000183862	ENST00000329903	D	0.93247	-3.19	5.27	4.41	0.53225	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.050712	0.85682	N	0.000000	D	0.95896	0.8664	M	0.74389	2.26	0.53688	D	0.999978	D	0.89917	1.0	D	0.91635	0.999	D	0.95498	0.8575	10	0.72032	D	0.01	.	10.9848	0.47516	0.0938:0.0:0.9062:0.0	.	483	Q16280	CNGA2_HUMAN	H	483	ENSP00000328478:R483H	ENSP00000328478:R483H	R	+	2	0	CNGA2	150663079	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.629000	0.83207	1.005000	0.39183	-0.260000	0.10688	CGC		TCGA-FB-AAPS-01A-12D-A397-08	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	0	0	0	7	519	0	85		0	0	0	0	85	2		0	0	0	0	0	2	1	0.979362	7	509	0	85	2		0	0	0	0	0	2	-2.310244	0	1	121410	23	47	1	0	1	1			0.100000	2	0.100000	0.270000	0.120000	0.510000	0.260000	0.297841	0.270000	0	0.190000	0.400000
CXorf21	80231	broad.mit.edu	37	X	30577641	30577641	+	Missense_Mutation	SNP	A	A	T			TCGA-FB-AAPS-01A-12D-A397-08	TCGA-FB-AAPS-11A-11D-A39A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7597a785-60fd-4969-a7bc-8db1532e2ab8	65fd8e5e-e00c-4519-a8b4-456ec71e2c34	g.chrX:30577641A>T	ENST00000378962.3	-	3	1154	c.832T>A	c.(832-834)Ttg>Atg	p.L278M		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21			20					GTTGACATCAATTGCAATAGG	0.398000																								0							SO:0001583	missense			ENST00000378962.3	1	1	hg19	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	A	9.213	1.031426	0.19590	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	1.36	0.22044	.	0.417714	0.22387	N	0.060739	T	0.36963	0.0986	L	0.51422	1.61	0.25525	N	0.987333	P	0.50617	0.937	P	0.53809	0.735	T	0.14392	-1.0474	9	0.45353	T	0.12	-3.0314	3.1843	0.06596	0.4426:0.0:0.238:0.3193	.	278	Q9HAI6	CX021_HUMAN	M	278	.	ENSP00000368245:L278M	L	-	1	2	CXorf21	30487562	0.999000	0.42202	0.692000	0.30179	0.104000	0.19210	0.733000	0.26087	0.251000	0.21505	-0.509000	0.04479	TTG		TCGA-FB-AAPS-01A-12D-A397-08	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	1	0	0	15	310	0	62	0	4.434276e-02	0	7	0	62	2		0	0	0	0	0	2	1	0.999878	15	309	0	61	2		0	0	0	0	0	2	-17.092950	1	1	0	0		1	0	1	1			0.100000	2	0.100000	0.920000	0.540000	1.000000	1.000000	0.880822	0.920000	1	0.710000	1.000000
