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
PPP1R1B	84152	broad.mit.edu	37	17	37785436	37785451	+	Frame_Shift_Del	DEL	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT	-	rs139161053	byFrequency	TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			GACCAACGCCTGCCAT	-	GACCAACGCCTGCCAT	GACCAACGCCTGCCAT		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:37785436_37785451delGACCAACGCCTGCCAT	ENST00000254079.4	+	2	564_579	c.95_110delGACCAACGCCTGCCAT	c.(94-111)agaccaacgcctgccatgfs	p.RPTPAM32fs	PPP1R1B_ENST00000579000.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394267.2_Start_Codon_Del|PPP1R1B_ENST00000580825.1_Frame_Shift_Del_p.RPTPAM32fs|PPP1R1B_ENST00000394265.1_Start_Codon_Del	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	p.P33A(1)		5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		CGGCGCAGGAGACCAACGCCTGCCATGCTGTTCCGG	0.648000																								1	Substitution - Missense(1)						SO:0001589	frameshift_variant			ENST00000254079.4	1	1	hg19	CCDS11339.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	1	0	0	20	266	0	80	0	9.994845e-01	0	164	0	80	2			0	0	0	0		1	0.943352	40	282	1	82	14								-19.999970	1	1	0	0		1	1	2	3	2.109541	0	0.490000	1.910000	0.498599	0.290000	1.800000e-01	1.000000	0.290000	0.340596	0.290000	0	0.230000	0.380000
TP53	7157	broad.mit.edu	37	17	7579503	7579503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:7579503delC	ENST00000269305.4	-	4	373	c.184delG	c.(184-186)gaafs	p.E62fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E62fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E62fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E62fs	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.0?(8)|p.E62*(8)|p.E62K(3)|p.G59fs*23(3)|p.E51fs*59(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CTGGGAGCTTCATCTGGACCT	0.617000		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	28	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - Frameshift(8)|Substitution - Missense(3)|Deletion - In frame(1)						SO:0001589	frameshift_variant	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																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	217	846	0	302	0	9.969851e-01	1	35	0	302	2	1	1	95	362	0	638	2	1	1.000000	217	835	1	300	14								-20.000000	1	1	0	0		1	0	1	1	1.580520	1	0.490000	1.910000	0.324503	0.620000	5.500000e-01	0.700000	0.630000	0.629563	0.620000	0	0.580000	0.670000
ANK3	288	broad.mit.edu	37	10	61844558	61844558	+	Silent	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:61844558T>C	ENST00000280772.2	-	32	4067	c.3876A>G	c.(3874-3876)ttA>ttG	p.L1292L	ANK3_ENST00000355288.2_Silent_p.L426L|ANK3_ENST00000373827.2_Silent_p.L1286L|ANK3_ENST00000503366.1_Silent_p.L1293L|Y_RNA_ENST00000365320.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)			196					CCACAGTTTCTAAAACTTGAT	0.363000																								0							SO:0001819	synonymous_variant			ENST00000280772.2	1	1	hg19	CCDS7258.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	1	0	1	67	202	0	105	1	9.321418e-01	3	13	0	105	2		0	0	0	0	0	2	1	1.000000	66	201	0	104	2								-20.000000	1	1	0	0		1	1	2	3	2.111558	0	0.490000	1.910000	0.498599	0.990000	8.200000e-01	1.000000	1.000000	0.974674	0.990000	1	0.920000	1.000000
CCAR1	55749	broad.mit.edu	37	10	70516196	70516196	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr10:70516196G>A	ENST00000265872.6	+	14	1911	c.1792G>A	c.(1792-1794)Gtc>Atc	p.V598I	MIR1254-1_ENST00000408257.1_RNA|CCAR1_ENST00000543719.1_Missense_Mutation_p.V583I|CCAR1_ENST00000535016.1_Missense_Mutation_p.V583I|SNORD98_ENST00000408255.1_RNA|CCAR1_ENST00000483264.1_3'UTR	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1			56					GCAGCAGCTGGTCGAGAAGCT	0.522000																								0							SO:0001583	missense			ENST00000265872.6	1	1	hg19	CCDS7282.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035173	0.35893	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012	T;T;T;T;T;T	0.42513	1.64;0.97;0.97;0.97;0.97;0.97	5.3	5.3	0.74995	.	0.264375	0.37669	N	0.001989	T	0.26521	0.0648	N	0.04508	-0.205	0.44073	D	0.996823	B;B;B	0.21606	0.058;0.021;0.011	B;B;B	0.22152	0.015;0.038;0.017	T	0.07404	-1.0774	10	0.38643	T	0.18	-0.3118	18.9513	0.92642	0.0:0.0:1.0:0.0	.	583;598;572	Q8IX12-2;Q8IX12;F5H2E6	.;CCAR1_HUMAN;.	I	598;583;583;583;572;403	ENSP00000265872:V598I;ENSP00000441820:V583I;ENSP00000445254:V583I;ENSP00000439252:V583I;ENSP00000438610:V572I;ENSP00000439642:V403I	ENSP00000265872:V598I	V	+	1	0	CCAR1	70186202	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.970000	0.88000	2.488000	0.83962	0.585000	0.79938	GTC		TCGA-2J-AABH-01A-21D-A40W-08	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	1	0	1	21	64	0	37	1	9.999986e-01	14	67	0	37	2		0	0	0	0	0	2	1	0.999999	20	63	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.111558	0	0.490000	1.910000	0.498599	0.990000	6.800000e-01	1.000000	1.000000	0.945260	0.990000	1	0.840000	1.000000
B3GAT3	26229	broad.mit.edu	37	11	62389371	62389371	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62389371T>A	ENST00000265471.5	-	1	276	c.49A>T	c.(49-51)Atc>Ttc	p.I17F	B3GAT3_ENST00000531383.1_Missense_Mutation_p.I17F|B3GAT3_ENST00000534026.1_Missense_Mutation_p.I17F	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3			12					AGGCCGGCGATCGACACCAGG	0.746000																								0							SO:0001583	missense			ENST00000265471.5	1	1	hg19	CCDS8025.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077236	0.76415	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026;ENST00000534715	T;T;T;T	0.64803	-0.09;-0.11;-0.12;0.83	4.99	2.62	0.31277	.	1.133970	0.06543	N	0.743641	T	0.39708	0.1088	N	0.08118	0	0.37300	D	0.908636	B;B	0.20671	0.047;0.028	B;B	0.22601	0.04;0.007	T	0.41324	-0.9515	10	0.25751	T	0.34	.	4.5387	0.12047	0.0:0.1041:0.2165:0.6794	.	17;17	B7ZAB3;O94766	.;B3GA3_HUMAN	F	17	ENSP00000265471:I17F;ENSP00000431359:I17F;ENSP00000432474:I17F;ENSP00000432854:I17F	ENSP00000265471:I17F	I	-	1	0	B3GAT3	62145947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.014000	0.40951	0.941000	0.37499	0.459000	0.35465	ATC		TCGA-2J-AABH-01A-21D-A40W-08	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	1	0	0	35	114	0	47	1	9.999068e-01	11	40	0	47	2		0	0	0	0	0	2	1	1.000000	35	111	0	47	2								-20.000000	1	1	0	0		1	0	0	0	2.046728	0	0.490000	1.910000	0.490000	0.950000	6.900000e-01	1.000000	1.000000	0.925197	0.950000	1	0.820000	1.000000
POLR2G	5436	broad.mit.edu	37	11	62533969	62533969	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:62533969T>C	ENST00000301788.7	+	8	614	c.509T>C	c.(508-510)cTt>cCt	p.L170P		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G			3					TTCGCAGGGCTTGTAAGCTGA	0.488000																								0							SO:0001583	missense			ENST00000301788.7	1	1	hg19	CCDS31585.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.933223	0.52866	.	.	ENSG00000168002	ENST00000301788	T	0.60672	0.17	5.94	5.94	0.96194	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.322319	0.28241	N	0.016070	T	0.51041	0.1651	L	0.42487	1.325	0.80722	D	1	P	0.52316	0.952	B	0.43623	0.425	T	0.49447	-0.8939	10	0.30078	T	0.28	-22.2904	12.7857	0.57504	0.0:0.0:0.0:1.0	.	170	P62487	RPB7_HUMAN	P	170	ENSP00000301788:L170P	ENSP00000301788:L170P	L	+	2	0	POLR2G	62290545	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	3.560000	0.53763	2.276000	0.75962	0.455000	0.32223	CTT		TCGA-2J-AABH-01A-21D-A40W-08	POLR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395344.1	1	0	1	53	155	0	68	1	1	73	262	0	68	2		0	0	0	0	0	2	1	1.000000	52	153	0	68	2								-20.000000	1	1	0	0		1	0	0	0	2.046728	0	0.490000	1.910000	0.490000	0.990000	8.000000e-01	1.000000	1.000000	0.970593	0.990000	1	0.910000	1.000000
SLCO2B1	11309	broad.mit.edu	37	11	74915507	74915507	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:74915507C>T	ENST00000289575.5	+	14	2407	c.2012C>T	c.(2011-2013)gCt>gTt	p.A671V	SLCO2B1_ENST00000454962.2_Missense_Mutation_p.A444V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.A444V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.A649V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.A527V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.A555V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1			39				Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	TTAGTTTTGGCTGTCCTGAGG	0.542000																								0							SO:0001583	missense			ENST00000289575.5	0	1	hg19	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	C	1.614	-0.523235	0.04141	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.80304	0.35;-1.36;-1.36;-1.36;-1.36;0.35	5.6	1.23	0.21249	Major facilitator superfamily domain, general substrate transporter (1);	0.587955	0.17573	N	0.169406	T	0.60753	0.2293	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.15052	0.008;0.012;0.006	T	0.46386	-0.9195	10	0.27082	T	0.32	.	6.9803	0.24700	0.0:0.5805:0.0:0.4195	.	527;444;671	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	V	671;444;555;527;444;649	ENSP00000289575:A671V;ENSP00000341286:A444V;ENSP00000434112:A555V;ENSP00000436324:A527V;ENSP00000389653:A444V;ENSP00000388912:A649V	ENSP00000289575:A671V	A	+	2	0	SLCO2B1	74593155	0.046000	0.20272	0.272000	0.24630	0.055000	0.15305	-0.057000	0.11768	0.558000	0.29135	-0.253000	0.11424	GCT		TCGA-2J-AABH-01A-21D-A40W-08	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	0	0	0	5	354	0	112	0	6.148177e-01	0	136	0	112	2		0	0	0	0	0	2	1	0.935636	5	349	0	111	2								-2.352807	0	1	0	0		1	1	2	3	2.074030	0	0.490000	1.910000	0.492487	0.050000	1.000000e-02	0.140000	0.060000	0.077091	0.050000	0	0.030000	0.100000
PRSS23	11098	broad.mit.edu	37	11	86518765	86518765	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr11:86518765C>T	ENST00000280258.5	+	2	505	c.80C>T	c.(79-81)cCc>cTc	p.P27L	PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Missense_Mutation_p.P27L	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23			18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			TACAGTGCCCCCTGGAAACCC	0.547000																								0							SO:0001583	missense			ENST00000280258.5	1	1	hg19	CCDS8278.1	.	.	.	.	.	.	.	.	.	.	C	7.059	0.566037	0.13560	.	.	ENSG00000150687	ENST00000527521;ENST00000280258;ENST00000441050	.	.	.	5.8	3.7	0.42460	.	0.620354	0.16980	N	0.191723	T	0.37544	0.1007	N	0.19112	0.55	0.43296	D	0.995288	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.08249	-1.0731	8	.	.	.	-4.3818	7.5087	0.27560	0.658:0.2362:0.0:0.1058	.	27;27	B4E2J3;O95084	.;PRS23_HUMAN	L	27	.	.	P	+	2	0	PRSS23	86196413	0.106000	0.21978	0.692000	0.30179	0.844000	0.47949	0.285000	0.18883	0.647000	0.30713	0.655000	0.94253	CCC		TCGA-2J-AABH-01A-21D-A40W-08	PRSS23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393805.2	1	0	1	100	350	0	114	1	1	35	189	0	114	2		0	0	0	0	0	2	1	1.000000	100	345	0	111	2								-3.586658	1	1	0	0		1	1	2	3	2.074030	0	0.490000	1.910000	0.492487	0.900000	7.500000e-01	1.000000	1.000000	0.909007	0.900000	1	0.820000	1.000000
TRPV4	59341	broad.mit.edu	37	12	110230539	110230539	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:110230539G>A	ENST00000418703.2	-	10	1836	c.1742C>T	c.(1741-1743)gCc>gTc	p.A581V	TRPV4_ENST00000544971.1_Missense_Mutation_p.A474V|TRPV4_ENST00000392719.2_Missense_Mutation_p.A534V|TRPV4_ENST00000541794.1_Missense_Mutation_p.A534V|TRPV4_ENST00000346520.2_Missense_Mutation_p.A521V|TRPV4_ENST00000536838.1_Missense_Mutation_p.A547V|TRPV4_ENST00000537083.1_Missense_Mutation_p.A521V|TRPV4_ENST00000261740.2_Missense_Mutation_p.A581V	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4			35					CAGGACCAGGGCAAAGACCAT	0.587000																								0							SO:0001583	missense			ENST00000418703.2	0	1	hg19	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	35	5.561025	0.96527	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	5.84	5.84	0.93424	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95379	0.8500	M	0.86420	2.815	0.80722	D	1	D;D;D;D;P	0.89917	1.0;1.0;1.0;0.99;0.938	D;D;D;D;P	0.91635	0.999;0.999;0.999;0.922;0.851	D	0.95065	0.8199	10	0.54805	T	0.06	1.4817	19.1263	0.93386	0.0:0.0:1.0:0.0	.	521;581;474;534;547	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	V	581;581;534;521;474;521;534;547	ENSP00000406191:A581V;ENSP00000261740:A581V;ENSP00000376480:A534V;ENSP00000319003:A521V;ENSP00000443611:A474V;ENSP00000442738:A521V;ENSP00000442167:A534V;ENSP00000444336:A547V	ENSP00000261740:A581V	A	-	2	0	TRPV4	108714922	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.763000	0.94921	0.650000	0.86243	GCC		TCGA-2J-AABH-01A-21D-A40W-08	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	0	0	0	4	104	0	40	0	4.885040e-01	0	38	0	40	2		0	0	0	0	0	2	1	0.885013	4	101	0	39	2								-7.009892	1	1	0	0		1	0	1	1	1.784759	1	0.490000	1.910000	0.357844	0.130000	4.000000e-02	0.280000	0.120000	0.144921	0.130000	0	0.070000	0.200000
NAA25	80018	broad.mit.edu	37	12	112530884	112530884	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:112530884T>C	ENST00000261745.4	-	2	363	c.115A>G	c.(115-117)Aag>Gag	p.K39E		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit			46					TTATGTTTCTTCAACAGTTTA	0.313000																								0							SO:0001583	missense			ENST00000261745.4	1	1	hg19	CCDS9159.1	.	.	.	.	.	.	.	.	.	.	T	32	5.154751	0.94686	.	.	ENSG00000111300	ENST00000261745	T	0.36340	1.26	5.15	5.15	0.70609	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.79805	2.47	0.80722	D	1	D;D	0.67145	0.996;0.996	P;P	0.58266	0.836;0.836	T	0.65265	-0.6210	10	0.72032	D	0.01	-16.1726	15.2728	0.73717	0.0:0.0:0.0:1.0	.	39;39	A8K8X0;Q14CX7	.;NAA25_HUMAN	E	39	ENSP00000261745:K39E	ENSP00000261745:K39E	K	-	1	0	NAA25	111015267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.607000	0.82883	2.061000	0.61500	0.482000	0.46254	AAG		TCGA-2J-AABH-01A-21D-A40W-08	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	1	0	0	9	255	0	134	0	2.800828e-02	0	7	0	134	2		0	0	0	0	0	2	1	0.993933	9	250	0	133	2								-10.321650	1	1	0	0		1	0	1	1	1.784759	1	0.490000	1.910000	0.357844	0.110000	5.000000e-02	0.200000	0.110000	0.121041	0.110000	0	0.070000	0.160000
MPHOSPH9	10198	broad.mit.edu	37	12	123682836	123682836	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:123682836C>T	ENST00000606320.1	-	12	2189	c.1983G>A	c.(1981-1983)gtG>gtA	p.V661V	MPHOSPH9_ENST00000541076.2_Silent_p.V631V|MPHOSPH9_ENST00000302349.5_Silent_p.V509V|MPHOSPH9_ENST00000392425.3_Silent_p.V509V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9			33	all_neural(191;0.101)|Medulloblastoma(191;0.163)				CAAGTGTTCTCACGCGACTAG	0.323000																								0							SO:0001819	synonymous_variant			ENST00000606320.1	1	1	hg19																																																																																					TCGA-2J-AABH-01A-21D-A40W-08	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2	1	0	1	19	62	0	57	1	2.492212e-01	2	2	0	57	2		0	0	0	0	0	2	1	0.999996	19	62	0	56	2								-15.519140	1	1	0	0		1	0	1	1	1.784759	1	0.490000	1.910000	0.357844	0.740000	4.800000e-01	1.000000	1.000000	0.758143	0.740000	0	0.610000	0.900000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-2J-AABH-01A-21D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	26	109	0	72	1	9.953248e-01	14	25	0	72	2	1	1	47	256	0	407	2	1	1.000000	26	107	0	72	2								-17.454930	1	1	0	0		1	2	2	4	2.364243	1	0.490000	1.910000	0.559129	0.960000	6.400000e-01	1.000000	1.000000	0.913888	0.960000	1	0.780000	1.000000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:25398285C>T	ENST00000256078.4	-	2	97	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000556131.1_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000311936.3_Missense_Mutation_p.G12S	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441396	0.96187	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.28344	0.845	0.80722	D	1	P;P	0.39665	0.557;0.682	P;P	0.50570	0.525;0.644	T	0.80254	-0.1459	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	S	12	ENSP00000308495:G12S;ENSP00000452512:G12S;ENSP00000256078:G12S;ENSP00000451856:G12S	ENSP00000256078:G12S	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-2J-AABH-01A-21D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	26	108	0	71	1	9.965362e-01	14	27	0	71	2	1	1	47	257	0	405	2	1	1.000000	26	106	0	71	2								-17.441480	1	0	0	0		1	2	2	4	2.364243	1	0.490000	1.910000	0.559129	0.970000	6.400000e-01	1.000000	1.000000	0.917258	0.970000	1	0.790000	1.000000
C1S	716	broad.mit.edu	37	12	7177305	7177305	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr12:7177305G>T	ENST00000406697.1	+	15	2045	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.A473S|C1S_ENST00000360817.5_Missense_Mutation_p.A473S|C1S_ENST00000402681.3_Missense_Mutation_p.A306S			P09871	C1S_HUMAN	complement component 1, s subcomponent			33				Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGTGCTGACGGCTGCTCATGT	0.517000													GBM(156;750 1943 12971 24779 31015)											0							SO:0001583	missense			ENST00000406697.1	1	1	hg19	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333322	0.81801	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.03	4.14	0.48551	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.42420	D	0.000716	D	0.96592	0.8888	M	0.73372	2.23	0.58432	D	0.999991	D	0.89917	1.0	D	0.97110	1.0	D	0.96958	0.9699	10	0.87932	D	0	.	13.8363	0.63410	0.0739:0.0:0.9261:0.0	.	473	P09871	C1S_HUMAN	S	473;473;473;467;306	ENSP00000385035:A473S;ENSP00000328173:A473S;ENSP00000354057:A473S;ENSP00000384171:A306S	ENSP00000328173:A473S	A	+	1	0	C1S	7047566	1.000000	0.71417	0.066000	0.19879	0.014000	0.08584	7.016000	0.76393	1.341000	0.45600	0.462000	0.41574	GCT		TCGA-2J-AABH-01A-21D-A40W-08	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	1	0	1	45	174	0	81	1	1	8	587	0	81	2		0	0	0	0	0	2	1	1.000000	45	170	0	80	2								-20.000000	1	1	0	0		1	2	2	4	2.364243	1	0.490000	1.910000	0.559129	0.990000	7.400000e-01	1.000000	1.000000	0.950532	0.990000	1	0.860000	1.000000
ZMYM5	9205	broad.mit.edu	37	13	20409664	20409664	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr13:20409664G>A	ENST00000337963.4	-	7	1468	c.1204C>T	c.(1204-1206)Cag>Tag	p.Q402*		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5			15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)			CTCTTCTGCTGACCTCCAATC	0.378000																								0							SO:0001587	stop_gained			ENST00000337963.4	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	37	6.428971	0.97559	.	.	ENSG00000132950	ENST00000337963;ENST00000502168	.	.	.	4.88	4.03	0.46877	.	0.056814	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.5531	14.9049	0.70711	0.0:0.2714:0.7286:0.0	.	.	.	.	X	402;392	.	ENSP00000337034:Q402X	Q	-	1	0	ZMYM5	19307664	1.000000	0.71417	0.890000	0.34922	0.578000	0.36192	7.270000	0.78493	1.405000	0.46838	-0.314000	0.08810	CAG		TCGA-2J-AABH-01A-21D-A40W-08	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	5	225	0	66	0	8.355525e-02	0	18	0	66	2		0	0	0	0	0	2	1	0.936051	5	222	0	65	2								-6.427219	1	1	0	0		1	1	2	3	2.531048	1	0.490000	1.910000	0.590361	0.110000	3.000000e-02	0.240000	0.120000	0.131022	0.110000	0	0.070000	0.180000
OR4E2	26686	broad.mit.edu	37	14	22133993	22133993	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:22133993C>T	ENST00000408935.1	+	1	697	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2			15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)			AGCTGAAGGGCGCCAGAAAGC	0.527000																								0							SO:0001583	missense			ENST00000408935.1	1	1	hg19	CCDS41916.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.718980	0.48622	.	.	ENSG00000221977	ENST00000408935	T	0.00337	8.05	5.59	5.59	0.84812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38959	U	0.001514	T	0.01124	0.0037	M	0.92784	3.345	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.50499	-0.8821	10	0.87932	D	0	.	12.3913	0.55360	0.1682:0.8318:0.0:0.0	.	233	Q8NGC2	OR4E2_HUMAN	C	233	ENSP00000386195:R233C	ENSP00000386195:R233C	R	+	1	0	OR4E2	21203833	0.001000	0.12720	0.993000	0.49108	0.371000	0.29859	0.040000	0.13905	2.782000	0.95742	0.591000	0.81541	CGC		TCGA-2J-AABH-01A-21D-A40W-08	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401874.1	1	0	1	47	156	0	69		0	0	0	0	69	2		0	0	0	0	0	2	1	1.000000	47	153	0	68	2								-20.000000	1	1	120886	1	39	1	0	1	1	2.041482	0	0.490000	1.910000	0.488747	0.930000	7.100000e-01	1.000000	1.000000	0.921587	0.930000	1	0.820000	1.000000
MYH7	4625	broad.mit.edu	37	14	23893229	23893229	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:23893229T>C	ENST00000355349.3	-	23	2971	c.2809A>G	c.(2809-2811)Act>Gct	p.T937A		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta			137	all_cancers(95;2.54e-05)				TTCTTGGCAGTGAGCTCAGCA	0.522000																								0							SO:0001583	missense			ENST00000355349.3	1	1	hg19	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247429	0.59103	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88896	-2.44	5.33	5.33	0.75918	.	.	.	.	.	D	0.90003	0.6879	M	0.85777	2.775	0.58432	D	0.999999	B	0.09022	0.002	B	0.15052	0.012	D	0.87423	0.2383	9	0.44086	T	0.13	.	15.463	0.75373	0.0:0.0:0.0:1.0	.	937	P12883	MYH7_HUMAN	A	937	ENSP00000347507:T937A	ENSP00000347507:T937A	T	-	1	0	MYH7	22963069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.241000	0.73720	0.533000	0.62120	ACT		TCGA-2J-AABH-01A-21D-A40W-08	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	1	0	1	99	357	0	135	0	0	0	1	0	135	2		0	0	0	0	0	2	1	1.000000	96	351	0	134	2								-20.000000	1	1	0	0		1	0	1	1	2.041482	0	0.490000	1.910000	0.488747	0.870000	7.300000e-01	1.000000	1.000000	0.883980	0.870000	1	0.800000	0.960000
SYT16	83851	broad.mit.edu	37	14	62547800	62547800	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr14:62547800C>T	ENST00000430451.2	+	4	1439	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI			35					ACCCCGTCTTCAGGGAGAAGG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000430451.2	1	1	hg19	CCDS45121.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	1	0	1	19	79	0	29	0	0	1	0	0	29	2		0	0	0	0	0	2	1	0.999996	19	79	0	29	2								-20.000000	1	1	0	0		1	1	2	3	2.057585	0	0.490000	1.910000	0.491246	0.790000	5.100000e-01	1.000000	1.000000	0.798591	0.790000	0	0.640000	0.970000
ZWILCH	55055	broad.mit.edu	37	15	66832448	66832448	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr15:66832448G>A	ENST00000307897.5	+	17	1967	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q	ZWILCH_ENST00000446801.2_Silent_p.Q415Q|ZWILCH_ENST00000565627.1_Silent_p.Q415Q|ZWILCH_ENST00000535141.2_Silent_p.Q415Q	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein			18					AGAAGCCACAGAAATGGAGAG	0.373000																								0							SO:0001819	synonymous_variant			ENST00000307897.5	1	1	hg19	CCDS10219.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256904.4	1	0	1	60	112	0	58	1	9.938210e-01	8	10	0	58	2		0	0	0	0	0	2	1	1.000000	59	111	0	57	2								-20.000000	1	1	0	0		1	0	1	1	1.610565	1	0.490000	1.910000	0.328859	0.960000	8.100000e-01	1.000000	1.000000	0.951319	0.960000	1	0.890000	1.000000
MAPK8IP3	23162	broad.mit.edu	37	16	1811270	1811270	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:1811270G>T	ENST00000250894.4	+	13	1657	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.E494D	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3			42					CCAAAGAAGAGGCGGAGGATG	0.602000																								0							SO:0001583	missense			ENST00000250894.4	1	1	hg19	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	G	4.841	0.156321	0.09236	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.17691	2.26;2.26	4.75	3.72	0.42706	.	0.055147	0.64402	D	0.000001	T	0.09598	0.0236	L	0.29908	0.895	0.54753	D	0.999985	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.001;0.003	T	0.11665	-1.0578	10	0.07990	T	0.79	-42.6426	7.1817	0.25776	0.0877:0.0:0.7414:0.1709	.	501;494;500	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	D	500;494	ENSP00000250894:E500D;ENSP00000348290:E494D	ENSP00000250894:E500D	E	+	3	2	MAPK8IP3	1751271	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.131000	0.50515	2.195000	0.70347	0.609000	0.83330	GAG		TCGA-2J-AABH-01A-21D-A40W-08	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	1	0	1	107	339	0	167	1	9.996640e-01	15	25	0	167	2		0	0	0	0	0	2	1	1.000000	103	328	1	165	11								-20.000000	1	1	0	0		1	0	0	0	2.036555	0	0.490000	1.910000	0.487489	0.960000	8.100000e-01	1.000000	1.000000	0.954195	0.960000	1	0.880000	1.000000
PRRT2	112476	broad.mit.edu	37	16	29824835	29824835	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr16:29824835C>T	ENST00000358758.7	+	2	743	c.460C>T	c.(460-462)Cca>Tca	p.P154S	AC009133.20_ENST00000569039.1_RNA|PAGR1_ENST00000320330.6_5'Flank|PAGR1_ENST00000609618.1_5'Flank|PRRT2_ENST00000567551.1_Intron|PRRT2_ENST00000567659.1_Missense_Mutation_p.P154S|PRRT2_ENST00000300797.6_Missense_Mutation_p.P154S|AC009133.14_ENST00000569981.1_RNA	NM_001256442.1|NM_001256443.1|NM_145239.2	NP_001243371.1|NP_001243372.1|NP_660282.2	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2			8					TACCCCCAAGCCAGCCCTTCA	0.637000																								0							SO:0001583	missense			ENST00000358758.7	1	1	hg19	CCDS10654.1	.	.	.	.	.	.	.	.	.	.	C	6.452	0.451562	0.12223	.	.	ENSG00000167371	ENST00000358758;ENST00000300797	T;T	0.70516	-0.49;0.42	4.04	1.99	0.26369	.	0.279462	0.27696	N	0.018240	T	0.47060	0.1425	N	0.14661	0.345	0.21822	N	0.999527	B;B;B	0.24721	0.087;0.03;0.11	B;B;B	0.24006	0.02;0.009;0.05	T	0.32268	-0.9913	10	0.45353	T	0.12	-1.2862	3.9443	0.09341	0.0:0.5684:0.1969:0.2346	.	154;154;154	Q7Z6L0-3;Q7Z6L0;Q7Z6L0-2	.;PRRT2_HUMAN;.	S	154	ENSP00000351608:P154S;ENSP00000300797:P154S	ENSP00000300797:P154S	P	+	1	0	PRRT2	29732336	0.006000	0.16342	0.199000	0.23439	0.760000	0.43138	2.130000	0.42064	0.443000	0.26582	0.563000	0.77884	CCA		TCGA-2J-AABH-01A-21D-A40W-08	PRRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255161.3	1	0	1	33	101	0	35	0	2.632258e-01	1	3	0	35	2		0	0	0	0	0	2	1	1.000000	32	95	0	33	2								-20.000000	1	1	121402	32	42	1	0	0	0	2.047530	0	0.490000	1.910000	0.490000	0.990000	7.200000e-01	1.000000	1.000000	0.946392	0.990000	1	0.850000	1.000000
KRTAP9-3	83900	broad.mit.edu	37	17	39389087	39389087	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:39389087T>G	ENST00000411528.2	+	1	373	c.334T>G	c.(334-336)Tgt>Ggt	p.C112G		NM_031962.2	NP_114168.1	Q9BYQ3	KRA93_HUMAN	keratin associated protein 9-3	p.P114fs*3(1)		8		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)		CACAAGTGTTTGTCTGCCTGG	0.602000																								1	Deletion - Frameshift(1)						SO:0001583	missense			ENST00000411528.2	1	1	hg19	CCDS11385.1	.	.	.	.	.	.	.	.	.	.	.	9.806	1.181974	0.21787	.	.	ENSG00000204873	ENST00000411528	T	0.01647	4.71	2.42	-0.28	0.12886	.	.	.	.	.	T	0.04182	0.0116	M	0.86805	2.84	0.09310	N	1	.	.	.	.	.	.	T	0.36089	-0.9762	7	0.16420	T	0.52	.	3.9176	0.09230	0.0:0.1391:0.2145:0.6464	.	.	.	.	G	112	ENSP00000392189:C112G	ENSP00000392189:C112G	C	+	1	0	KRTAP9-3	36642613	0.015000	0.18098	0.000000	0.03702	0.007000	0.05969	-0.267000	0.08619	-0.256000	0.09473	0.329000	0.21502	TGT		TCGA-2J-AABH-01A-21D-A40W-08	KRTAP9-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257290.1	1	0	1	89	277	0	138		0	0	0	0	138	2		0	0	0	0	0	2	1	1.000000	88	272	0	136	2								-20.000000	1	1	0	0		1	1	2	3	2.109541	0	0.490000	1.910000	0.498599	0.990000	8.300000e-01	1.000000	1.000000	0.970685	0.990000	1	0.910000	1.000000
HDAC5	10014	broad.mit.edu	37	17	42160137	42160137	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr17:42160137C>A	ENST00000393622.2	-	19	2846	c.2515G>T	c.(2515-2517)Gcc>Tcc	p.A839S	HDAC5_ENST00000225983.6_Missense_Mutation_p.A840S|HDAC5_ENST00000336057.5_Missense_Mutation_p.A754S|HDAC5_ENST00000586802.1_Missense_Mutation_p.A839S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5			21		Breast(137;0.00637)|Prostate(33;0.0313)			ACTCACATGGCTGTGGATTCC	0.602000																								0							SO:0001583	missense			ENST00000393622.2	0	1	hg19	CCDS45696.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949580	0.92660	.	.	ENSG00000108840	ENST00000225983;ENST00000393622;ENST00000336057	T;T;T	0.72282	-0.64;-0.64;-0.64	5.4	4.44	0.53790	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000001	D	0.83478	0.5263	M	0.81497	2.545	0.80722	D	1	D;D;D;D	0.62365	0.99;0.99;0.981;0.991	D;D;D;D	0.81914	0.995;0.988;0.971;0.991	D	0.85438	0.1153	10	0.72032	D	0.01	.	12.7136	0.57103	0.0:0.9198:0.0:0.0802	.	754;839;840;839	Q9UQL6-2;B4DGT4;Q9UQL6-3;Q9UQL6	.;.;.;HDAC5_HUMAN	S	840;839;754	ENSP00000225983:A840S;ENSP00000377244:A839S;ENSP00000337290:A754S	ENSP00000225983:A840S	A	-	1	0	HDAC5	39515663	0.999000	0.42202	1.000000	0.80357	0.959000	0.62525	4.016000	0.57159	1.295000	0.44724	0.655000	0.94253	GCC		TCGA-2J-AABH-01A-21D-A40W-08	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	0	0	0	3	25	0	10	0	9.967434e-01	0	139	0	10	2		0	0	0	0	0	2	0	0.788350	1	25	0	10	2								-8.489199	1	0	0	0		1	1	2	3	2.109541	0	0.490000	1.910000	0.498599	0.510000	1.500000e-01	1.000000	1.000000	0.554074	0.510000	0	0.290000	0.850000
GRIN3B	116444	broad.mit.edu	37	19	1005311	1005311	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1005311C>T	ENST00000234389.3	+	3	1830	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B			11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TACGGCCTCACGCCACGTGGC	0.662000																								0							SO:0001583	missense			ENST00000234389.3	1	1	hg19	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.988790	0.53934	.	.	ENSG00000116032	ENST00000234389	T	0.54479	0.57	4.36	4.36	0.52297	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.79475	2.455	0.47308	D	0.999383	D	0.89917	1.0	D	0.97110	1.0	T	0.77965	-0.2389	10	0.87932	D	0	.	15.515	0.75815	0.0:1.0:0.0:0.0	.	604	O60391	NMD3B_HUMAN	M	604	ENSP00000234389:T604M	ENSP00000234389:T604M	T	+	2	0	GRIN3B	956311	1.000000	0.71417	0.993000	0.49108	0.178000	0.23041	7.671000	0.83941	2.012000	0.59069	0.306000	0.20318	ACG		TCGA-2J-AABH-01A-21D-A40W-08	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2	1	0	1	60	202	0	107		0	0	0	0	107	2		0	0	0	0	0	2	1	1.000000	61	197	0	104	2								-20.000000	1	1	121396	12	42	1	0	1	1	2.037121	0	0.490000	1.910000	0.488747	0.920000	7.300000e-01	1.000000	1.000000	0.918713	0.920000	1	0.820000	1.000000
C19orf26	255057	broad.mit.edu	37	19	1236016	1236016	+	Silent	SNP	G	G	A	rs146688767		TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:1236016G>A	ENST00000382477.2	-	2	340	c.66C>T	c.(64-66)gaC>gaT	p.D22D	C19orf26_ENST00000215376.6_Silent_p.D22D|C19orf26_ENST00000590083.1_Silent_p.D28D|AC004221.2_ENST00000592843.1_lincRNA			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26			9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)			CAGTGGCATTGTCCCACGACG	0.687000										HNSCC(14;0.022)														0							SO:0001819	synonymous_variant			ENST00000382477.2	1	1	hg19																																																																																					TCGA-2J-AABH-01A-21D-A40W-08	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		1	0	0	41	113	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1.000000	40	113	0	49	2								-20.000000	1	1	120820	3	37	1	0	1	1	2.037121	0	0.490000	1.910000	0.488747	0.990000	8.100000e-01	1.000000	1.000000	0.977429	0.990000	1	0.940000	1.000000
RYR1	6261	broad.mit.edu	37	19	38994959	38994959	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:38994959C>T	ENST00000359596.3	+	50	8026	c.8026C>T	c.(8026-8028)Cgg>Tgg	p.R2676W	RYR1_ENST00000360985.3_Missense_Mutation_p.R2676W|RYR1_ENST00000355481.4_Missense_Mutation_p.R2676W			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)			285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)	Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCACCTCACACGGAAACTCTT	0.582000																								0		GRCh37	CM044255	RYR1	M		SO:0001583	missense			ENST00000359596.3	1	1	hg19	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.777859	0.31502	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.73258	-0.73;-0.73;-0.73	3.97	2.91	0.33838	.	0.000000	0.64402	U	0.000007	T	0.76140	0.3946	L	0.47716	1.5	0.37413	D	0.913321	D;D	0.89917	1.0;1.0	D;P	0.68483	0.958;0.908	T	0.79264	-0.1875	10	0.66056	D	0.02	.	10.2917	0.43599	0.3951:0.6049:0.0:0.0	rs28934001	2676;2676	P21817-2;P21817	.;RYR1_HUMAN	W	2676	ENSP00000352608:R2676W;ENSP00000347667:R2676W;ENSP00000354254:R2676W	ENSP00000347667:R2676W	R	+	1	2	RYR1	43686799	0.190000	0.23276	0.598000	0.28837	0.467000	0.32768	0.830000	0.27462	0.935000	0.37341	0.305000	0.20034	CGG		TCGA-2J-AABH-01A-21D-A40W-08	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	1	0	1	71	124	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	1.000000	71	120	0	51	2								-20.000000	1	1	121412	1	28	1	1	2	3	2.318303	1	0.490000	1.910000	0.560060	0.990000	9.900000e-01	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
FUZ	80199	broad.mit.edu	37	19	50314661	50314661	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr19:50314661A>G	ENST00000313777.4	-	5	614	c.451T>C	c.(451-453)Tgt>Cgt	p.C151R	FUZ_ENST00000534008.1_5'UTR|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000528094.1_Missense_Mutation_p.C115R|FUZ_ENST00000533418.1_Missense_Mutation_p.C101R|FUZ_ENST00000445575.2_Missense_Mutation_p.C151R|FUZ_ENST00000526575.1_3'UTR	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein			4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)			CAGTCCACACACTGGGTCAGG	0.572000																								0							SO:0001583	missense			ENST00000313777.4	1	1	hg19	CCDS12781.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.591637	0.66219	.	.	ENSG00000010361	ENST00000528094;ENST00000533418;ENST00000529634;ENST00000313777;ENST00000377092;ENST00000445575;ENST00000529004;ENST00000421740	T;T;T;T	0.21031	2.03;2.03;2.03;2.03	4.21	4.21	0.49690	.	0.108709	0.64402	D	0.000007	T	0.42245	0.1194	M	0.68593	2.085	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.83275	0.996;0.987;0.953	T	0.36383	-0.9750	10	0.87932	D	0	-13.6359	10.9033	0.47065	1.0:0.0:0.0:0.0	.	151;115;151	B4DHF8;Q9BT04-3;Q9BT04	.;.;FUZZY_HUMAN	R	115;101;151;151;51;151;101;151	ENSP00000435177:C115R;ENSP00000431731:C101R;ENSP00000313309:C151R;ENSP00000408018:C151R	ENSP00000313309:C151R	C	-	1	0	FUZ	55006473	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.087000	0.50167	1.763000	0.52060	0.379000	0.24179	TGT		TCGA-2J-AABH-01A-21D-A40W-08	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	1	0	1	30	49	0	13	1	1	30	30	0	13	2		0	0	0	0	0	2	1	1.000000	28	47	0	13	2								-20.000000	1	0	0	0		1	1	2	3	2.467671	1	0.490000	1.910000	0.575319	0.990000	9.900000e-01	1.000000	1.000000	0.999994	0.990000	1	0.990000	1.000000
HMCN1	83872	broad.mit.edu	37	1	186050343	186050343	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:186050343G>A	ENST00000271588.4	+	56	8833	c.8604G>A	c.(8602-8604)ccG>ccA	p.P2868P	HMCN1_ENST00000367492.2_Silent_p.P2868P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1			308					TGTTAGTGCCGCCAATTATCA	0.423000																								0							SO:0001819	synonymous_variant			ENST00000271588.4	0	1	hg19	CCDS30956.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	0	0	8	900	0	312	0	1.059701e-03	0	5	0	312	2		0	0	0	0	0	2	1	0.988476	8	882	0	312	2								-1.722207	0	1	121412	1	40	1	1	2	3	2.564316	1	0.490000	1.910000	0.590361	0.040000	0	0.090000	0.060000	0.049129	0.040000	0	0.020000	0.070000
CNIH3	149111	broad.mit.edu	37	1	224922304	224922304	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:224922304C>T	ENST00000272133.3	+	5	1233	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3			9	Breast(184;0.218)				AACTAGCCTACGACCCACCGG	0.517000																								0							SO:0001819	synonymous_variant			ENST00000272133.3	1	1	hg19	CCDS1544.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	1	0	1	60	242	0	77	0	7.214820e-01	0	12	0	77	2		0	0	0	0	0	2	1	1.000000	56	240	0	77	2								-20.000000	1	1	121412	7	43	1	1	2	3	2.573745	1	0.490000	1.910000	0.590361	0.990000	7.900000e-01	1.000000	1.000000	0.961727	0.990000	1	0.890000	1.000000
RYR2	6262	broad.mit.edu	37	1	237586430	237586430	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr1:237586430G>A	ENST00000366574.2	+	12	1204	c.887G>A	c.(886-888)cGa>cAa	p.R296Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R280Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R294Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		CAGCCATTCCGACTACGCCAT	0.418000																								0							SO:0001583	missense			ENST00000366574.2	1	1	hg19	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	35	5.596093	0.96602	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97430	-4.38;-4.38;-4.38	5.42	5.42	0.78866	MIR motif (2);MIR (2);	0.000000	0.56097	D	0.000026	D	0.98317	0.9442	M	0.87900	2.915	0.80722	D	1	D	0.69078	0.997	P	0.57468	0.821	D	0.99236	1.0883	10	0.87932	D	0	.	19.2044	0.93724	0.0:0.0:1.0:0.0	.	296	Q92736	RYR2_HUMAN	Q	296;294;280	ENSP00000355533:R296Q;ENSP00000353174:R294Q;ENSP00000443798:R280Q	ENSP00000353174:R294Q	R	+	2	0	RYR2	235653053	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.781000	0.99029	2.541000	0.85698	0.655000	0.94253	CGA		TCGA-2J-AABH-01A-21D-A40W-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	0	0	15	483	0	130		0	0	0	0	130	2		0	0	0	0	0	2	1	0.999871	15	481	0	129	2								-2.708833	1	1	0	0		1	1	2	3	2.573745	1	0.490000	1.910000	0.590361	0.150000	8.000000e-02	0.240000	0.150000	0.162379	0.150000	0	0.110000	0.200000
SCN1A	6323	broad.mit.edu	37	2	166900451	166900451	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:166900451C>T	ENST00000303395.4	-	11	1770	c.1771G>A	c.(1771-1773)Gca>Aca	p.A591T	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.A591T|SCN1A_ENST00000409050.1_Missense_Mutation_p.A591T|SCN1A_ENST00000423058.2_Missense_Mutation_p.A591T|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATCATCTGCGAAGTCGTTC	0.517000																								0							SO:0001583	missense			ENST00000303395.4	1	1	hg19	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670151	0.67814	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97	5.37	4.49	0.54785	Domain of unknown function DUF3451 (1);	0.084144	0.51477	N	0.000088	D	0.98745	0.9578	M	0.92412	3.305	0.54753	D	0.999984	D;D;P	0.65815	0.964;0.995;0.814	P;P;B	0.54924	0.617;0.764;0.34	D	0.98621	1.0667	10	0.46703	T	0.11	.	13.7837	0.63097	0.0:0.926:0.0:0.074	.	591;591;591	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	T	591	ENSP00000407030:A591T;ENSP00000303540:A591T;ENSP00000364554:A591T;ENSP00000386312:A591T	ENSP00000303540:A591T	A	-	1	0	SCN1A	166608697	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	1.256000	0.44068	0.561000	0.74099	GCA		TCGA-2J-AABH-01A-21D-A40W-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	1	0	1	63	242	0	86		0	0	0	0	86	2		0	0	0	0	0	2	1	1.000000	62	237	0	83	2								-20.000000	1	1	0	0		1	1	2	3	2.049523	0	0.490000	1.910000	0.491246	0.840000	6.600000e-01	1.000000	1.000000	0.847357	0.840000	0	0.750000	0.940000
LRP2	4036	broad.mit.edu	37	2	170062574	170062574	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:170062574G>A	ENST00000263816.3	-	40	7800	c.7515C>T	c.(7513-7515)cgC>cgT	p.R2505R		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	p.R2505R(1)		315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	GTTTTGGAACGCGGGCTATCA	0.428000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000263816.3	1	1	hg19	CCDS2232.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	1	0	1	101	342	0	99		0	0	0	0	99	2		0	0	0	0	0	2	1	1.000000	97	340	0	99	2								-20.000000	1	1	121412	3	41	1	1	2	3	2.049523	0	0.490000	1.910000	0.491246	0.920000	7.700000e-01	1.000000	1.000000	0.925293	0.920000	1	0.840000	1.000000
ANKRD44	91526	broad.mit.edu	37	2	197990583	197990583	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:197990583G>A	ENST00000328737.2	-	5	441	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A122V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A122V|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000409919.1_Missense_Mutation_p.A147V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A139V|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A75V			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44			45			OV - Ovarian serous cystadenocarcinoma(117;0.246)		GTTCAGAGCCGCATGGTGCAA	0.542000																								0							SO:0001583	missense			ENST00000328737.2	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.488319	0.96323	.	.	ENSG00000065413	ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000409153;ENST00000539527;ENST00000409919	T;D;D;D;D;T;D	0.81739	-0.26;-1.53;-1.53;-1.53;-1.53;-1.29;-1.53	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.92612	0.7653	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.979;0.991	D	0.93967	0.7246	10	0.87932	D	0	.	19.2539	0.93938	0.0:0.0:1.0:0.0	.	75;147	F5H682;Q8N8A2-3	.;.	V	139;122;122;122;147;75;147	ENSP00000282272:A139V;ENSP00000331516:A122V;ENSP00000402420:A122V;ENSP00000338794:A122V;ENSP00000387141:A147V;ENSP00000437825:A75V;ENSP00000387233:A147V	ENSP00000282272:A139V	A	-	2	0	ANKRD44	197698828	1.000000	0.71417	0.368000	0.25939	0.860000	0.49131	9.601000	0.98297	2.780000	0.95670	0.655000	0.94253	GCG		TCGA-2J-AABH-01A-21D-A40W-08	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	0	0	0	5	390	0	135	0	5.221339e-03	0	7	0	135	2		0	0	0	0	0	2	1	0.936237	5	386	0	132	2								-2.018767	0	1	121412	2	36	1	1	2	3	2.049523	0	0.490000	1.910000	0.491246	0.050000	1.000000e-02	0.120000	0.060000	0.061642	0.050000	0	0.030000	0.090000
TUBA4A	7277	broad.mit.edu	37	2	220115248	220115248	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220115248C>T	ENST00000248437.4	-	4	1346	c.1173G>A	c.(1171-1173)ctG>ctA	p.L391L	TUBA4B_ENST00000490341.1_RNA|TUBA4A_ENST00000392088.2_Silent_p.L376L|TUBA4A_ENST00000498660.1_5'Flank	NM_006000.2	NP_005991.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a			20		Renal(207;0.0474)		Cabazitaxel(DB06772)|Podofilox(DB01179)|Vincristine(DB00541)	ACTTGTGGTCCAGGCGGGCCC	0.637000																								0							SO:0001819	synonymous_variant			ENST00000248437.4	1	1	hg19	CCDS2438.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	TUBA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256816.3	1	0	1	68	290	0	131	1	1	416	474	0	131	2		0	0	0	0	0	2	1	1.000000	67	282	0	127	2								-3.496347	1	1	0	0		1	1	2	3	2.049523	0	0.490000	1.910000	0.491246	0.770000	6.100000e-01	0.950000	0.780000	0.781736	0.770000	0	0.690000	0.870000
SLC4A3	6508	broad.mit.edu	37	2	220500451	220500451	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:220500451C>T	ENST00000358055.3	+	14	2541	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R704W|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R704W|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R677W|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R677W			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3			51		Renal(207;0.0183)			CCCCTTGCTGCGGACGGGCTC	0.642000																								0							SO:0001583	missense			ENST00000358055.3	0	1	hg19	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533460	0.85812	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54	4.62	4.62	0.57501	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	M	0.84773	2.715	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	P;D;P	0.65010	0.857;0.931;0.886	D	0.91234	0.5016	10	0.87932	D	0	.	14.3747	0.66865	0.1482:0.8518:0.0:0.0	.	381;677;704	P48751-2;P48751;P48751-3	.;B3A3_HUMAN;.	W	677;677;704;704;677	ENSP00000350756:R677W;ENSP00000362865:R677W;ENSP00000273063:R704W;ENSP00000362867:R704W;ENSP00000314006:R677W	ENSP00000273063:R704W	R	+	1	2	SLC4A3	220208695	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.201000	0.51059	2.264000	0.75181	0.643000	0.83706	CGG		TCGA-2J-AABH-01A-21D-A40W-08	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	0	0	0	4	61	0	14	0	3.439325e-02	0	4	0	14	2		0	0	0	0	0	2	1	0.888852	4	60	0	14	2								-3.340893	1	1	0	0		1	1	2	3	2.049523	0	0.490000	1.910000	0.491246	0.270000	9.000000e-02	0.600000	0.250000	0.300550	0.270000	0	0.170000	0.430000
IRS1	3667	broad.mit.edu	37	2	227662563	227662563	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:227662563C>T	ENST00000305123.5	-	1	1912	c.892G>A	c.(892-894)Ggg>Agg	p.G298R	IRS1_ENST00000498335.1_5'Flank|RP11-395N3.2_ENST00000607970.1_lincRNA	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1			69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)			CGGGTCAGCCCCACCTGGCTG	0.687000											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)												0							SO:0001583	missense			ENST00000305123.5	1	1	hg19	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584426	0.86748	.	.	ENSG00000169047	ENST00000305123	T	0.70164	-0.46	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000001	D	0.82756	0.5106	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83805	0.0238	10	0.72032	D	0.01	-23.2391	19.7366	0.96208	0.0:1.0:0.0:0.0	.	298	P35568	IRS1_HUMAN	R	298	ENSP00000304895:G298R	ENSP00000304895:G298R	G	-	1	0	IRS1	227370807	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.818000	0.86416	2.667000	0.90743	0.462000	0.41574	GGG		TCGA-2J-AABH-01A-21D-A40W-08	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	1	0	0	82	363	0	93	0	6.787222e-01	1	11	0	93	2		0	0	0	0	0	2	1	1.000000	79	323	0	88	2								-2.035125	0	1	0	0		1	1	2	3	2.049523	0	0.490000	1.910000	0.491246	0.750000	6.100000e-01	0.910000	0.750000	0.757949	0.750000	0	0.670000	0.830000
BCL11A	53335	broad.mit.edu	37	2	60688625	60688625	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:60688625G>A	ENST00000335712.6	-	4	1649	c.1422C>T	c.(1420-1422)aaC>aaT	p.N474N	BCL11A_ENST00000538214.1_Silent_p.N440N|BCL11A_ENST00000537768.1_Silent_p.N143N|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Silent_p.N440N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Silent_p.N474N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)			59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		GGTTGGGGTCGTTCTCGCTCT	0.642000			T	IGH@	B-CLL										Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0							SO:0001819	synonymous_variant			ENST00000335712.6	1	1	hg19	CCDS1862.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	1	0	1	20	65	0	31	0	1.498450e-01	0	3	0	31	2		0	0	0	0	0	2	1	0.999998	20	65	0	31	2								-20.000000	1	1	0	0		1	1	2	3	2.049523	0	0.490000	1.910000	0.491246	0.960000	6.300000e-01	1.000000	1.000000	0.913248	0.960000	1	0.780000	1.000000
ADAM17	6868	broad.mit.edu	37	2	9663463	9663463	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr2:9663463T>A	ENST00000310823.3	-	7	940	c.758A>T	c.(757-759)gAg>gTg	p.E253V	ADAM17_ENST00000497134.1_Missense_Mutation_p.E253V	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17			28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)				GTCAATTAGCTCTATCTGTGT	0.333000																								0							SO:0001583	missense			ENST00000310823.3	1	1	hg19	CCDS1665.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.6|21.6	4.180382|4.180382	0.78677|0.78677	.|.	.|.	ENSG00000151694|ENSG00000151694	ENST00000310823;ENST00000497134|ENST00000538558	D;D|.	0.87650|.	-2.28;-2.28|.	4.82|4.82	4.82|4.82	0.62117|0.62117	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74898|0.74898	0.3777|0.3777	M|M	0.75264|0.75264	2.295|2.295	0.80722|0.80722	D|D	1|1	P;P|.	0.51351|.	0.944;0.944|.	P;P|.	0.54629|.	0.757;0.757|.	T|T	0.78081|0.78081	-0.2343|-0.2343	10|6	0.56958|0.59425	D|D	0.05|0.04	.|.	14.6645|14.6645	0.68896|0.68896	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	253;253|.	B2RNB2;P78536|.	.;ADA17_HUMAN|.	V|S	253|256	ENSP00000309968:E253V;ENSP00000418728:E253V|.	ENSP00000309968:E253V|ENSP00000439780:R256S	E|R	-|-	2|3	0|2	ADAM17|ADAM17	9580914|9580914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	7.655000|7.655000	0.83696|0.83696	1.927000|1.927000	0.55829|0.55829	0.402000|0.402000	0.26972|0.26972	GAG|AGA		TCGA-2J-AABH-01A-21D-A40W-08	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206857.1	1	0	1	72	227	0	95	1	9.977470e-01	5	27	0	95	2		0	0	0	0	0	2	1	1.000000	71	225	0	92	2								-20.000000	1	1	0	0		1	1	2	3	2.049523	0	0.490000	1.910000	0.491246	0.980000	7.900000e-01	1.000000	1.000000	0.953875	0.980000	1	0.880000	1.000000
VEPH1	79674	broad.mit.edu	37	3	156978980	156978980	+	Silent	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr3:156978980G>A	ENST00000362010.2	-	14	2752	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000543418.1_Silent_p.N770N|VEPH1_ENST00000392833.2_Silent_p.N770N|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.N815N|RP11-550I24.2_ENST00000475102.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1			48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		CAACTGCCACGTTGATGCACT	0.448000																								0							SO:0001819	synonymous_variant			ENST00000362010.2	1	1	hg19	CCDS3179.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	1	0	1	77	238	0	101	0	5.433077e-01	0	7	0	101	2		0	0	0	0	0	2	1	1.000000	77	234	0	99	2								-20.000000	1	1	0	0		1	1	2	3	2.050751	0	0.490000	1.910000	0.491246	0.990000	8.100000e-01	1.000000	1.000000	0.962334	0.990000	1	0.900000	1.000000
MAN2B2	23324	broad.mit.edu	37	4	6596365	6596365	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:6596365G>C	ENST00000285599.3	+	7	999	c.963G>C	c.(961-963)caG>caC	p.Q321H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.Q270H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2			30					TCTCGGTGCAGTATGCCACGC	0.597000																								0							SO:0001583	missense			ENST00000285599.3	1	1	hg19	CCDS33951.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.976|5.976	0.364000|0.364000	0.11296|0.11296	.|.	.|.	ENSG00000013288|ENSG00000013288	ENST00000285599;ENST00000504248|ENST00000505907	T;T|.	0.75477|.	-0.94;-0.94|.	4.52|4.52	2.36|2.36	0.29203|0.29203	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);|.	0.424218|.	0.26072|.	N|.	0.026512|.	T|T	0.62122|0.62122	0.2402|0.2402	M|M	0.70842|0.70842	2.15|2.15	0.37979|0.37979	D|D	0.93354|0.93354	B;B;B|.	0.18310|.	0.012;0.012;0.027|.	B;B;B|.	0.24848|.	0.056;0.037;0.043|.	T|T	0.62793|0.62793	-0.6779|-0.6779	10|5	0.16896|.	T|.	0.51|.	-10.2461|-10.2461	6.7447|6.7447	0.23454|0.23454	0.195:0.1512:0.6539:0.0|0.195:0.1512:0.6539:0.0	.|.	270;321;321|.	E9PCD7;Q9Y2E5;Q9Y2E5-2|.	.;MA2B2_HUMAN;.|.	H|T	321;270|320	ENSP00000285599:Q321H;ENSP00000423129:Q270H|.	ENSP00000285599:Q321H|.	Q|S	+|+	3|2	2|0	MAN2B2|MAN2B2	6647266|6647266	1.000000|1.000000	0.71417|0.71417	0.631000|0.631000	0.29282|0.29282	0.187000|0.187000	0.23431|0.23431	4.173000|4.173000	0.58249|0.58249	0.891000|0.891000	0.36235|0.36235	0.543000|0.543000	0.68304|0.68304	CAG|AGT		TCGA-2J-AABH-01A-21D-A40W-08	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	1	0	1	35	109	0	36	1	9.998610e-01	6	41	0	36	2		0	0	0	0	0	2	1	1.000000	34	108	0	36	2								-20.000000	1	1	0	0		1	1	2	3	2.055690	0	0.490000	1.910000	0.491246	0.990000	7.200000e-01	1.000000	1.000000	0.943186	0.990000	1	0.850000	1.000000
SORCS2	57537	broad.mit.edu	37	4	7666172	7666172	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr4:7666172G>A	ENST00000507866.2	+	7	1154	c.1045G>A	c.(1045-1047)Gtg>Atg	p.V349M	SORCS2_ENST00000329016.9_Missense_Mutation_p.V177M	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2			42					GTCTCTGACCGTGCAGGACGA	0.532000																								0							SO:0001583	missense			ENST00000507866.2	1	1	hg19	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717578	0.48622	0.0	1.2E-4	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.49139	0.79;0.79	4.82	3.07	0.35406	VPS10 (1);	0.297174	0.26539	N	0.023820	T	0.59059	0.2166	M	0.65975	2.015	0.48236	D	0.999617	D;D	0.76494	0.997;0.999	P;P	0.61328	0.808;0.887	T	0.56098	-0.8035	10	0.46703	T	0.11	.	9.0836	0.36567	0.0834:0.1487:0.7679:0.0	.	177;349	B5MED8;Q96PQ0	.;SORC2_HUMAN	M	349;177	ENSP00000422185:V349M;ENSP00000329124:V177M	ENSP00000329124:V177M	V	+	1	0	SORCS2	7717072	1.000000	0.71417	0.695000	0.30226	0.364000	0.29643	4.341000	0.59335	0.443000	0.26582	0.655000	0.94253	GTG		TCGA-2J-AABH-01A-21D-A40W-08	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1	27	103	0	55	0	1.180461e-01	0	3	0	55	2		0	0	0	0	0	2	1	1.000000	27	102	0	54	2								-18.795580	1	1	120896	12	38	1	1	2	3	2.055690	0	0.490000	1.910000	0.491246	0.850000	5.900000e-01	1.000000	1.000000	0.846901	0.850000	1	0.710000	1.000000
PCDHA7	56141	broad.mit.edu	37	5	140214165	140214165	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:140214165C>T	ENST00000525929.1	+	1	197	c.197C>T	c.(196-198)gCg>gTg	p.A66V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A66V|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7			63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		CTGTTCCGGGCGGTGTGCAAA	0.617000													NSCLC(160;258 2013 5070 22440 28951)											0							SO:0001583	missense			ENST00000525929.1	1	1	hg19	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.605859	0.00842	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.19938	2.11;2.11	4.17	0.291	0.15732	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.03871	0.0109	N	0.00226	-1.805	0.22511	N	0.999038	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.40776	-0.9545	9	0.02654	T	1	.	10.1587	0.42838	0.0:0.1593:0.0:0.8407	.	66;66	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	V	66	ENSP00000436426:A66V;ENSP00000367365:A66V	ENSP00000367365:A66V	A	+	2	0	PCDHA7	140194349	0.300000	0.24435	0.998000	0.56505	0.148000	0.21650	3.486000	0.53215	0.121000	0.18284	-1.817000	0.00601	GCG		TCGA-2J-AABH-01A-21D-A40W-08	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	1	0	1	170	589	0	228		0	0	0	0	228	2		0	0	0	0	0	2	1	1.000000	164	583	0	226	2								-20.000000	1	1	121412	2	37	1	1	2	3	2.053985	0	0.490000	1.910000	0.491246	0.910000	7.900000e-01	1.000000	1.000000	0.915200	0.910000	1	0.850000	0.980000
MTMR12	54545	broad.mit.edu	37	5	32229910	32229910	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:32229910C>T	ENST00000382142.3	-	16	2388	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MTMR12_ENST00000510216.1_5'Flank|MTMR12_ENST00000264934.5_Missense_Mutation_p.E630K|MTMR12_ENST00000280285.5_Missense_Mutation_p.E686K	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12			34					TCCACGAACTCATCTTCTCGT	0.507000																								0							SO:0001583	missense			ENST00000382142.3	1	1	hg19	CCDS34138.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588664	0.86851	.	.	ENSG00000150712	ENST00000280285;ENST00000382142;ENST00000264934	D;D;D	0.97328	-4.34;-3.66;-3.8	5.02	5.02	0.67125	.	0.351538	0.29480	N	0.012035	D	0.97071	0.9043	L	0.27053	0.805	0.32367	N	0.556418	D;D;D	0.71674	0.996;0.998;0.997	D;D;D	0.80764	0.99;0.994;0.985	D	0.97979	1.0348	10	0.87932	D	0	.	17.9465	0.89040	0.0:1.0:0.0:0.0	.	630;686;740	Q9C0I1-3;Q9C0I1-2;Q9C0I1	.;.;MTMRC_HUMAN	K	686;740;630	ENSP00000280285:E686K;ENSP00000371577:E740K;ENSP00000264934:E630K	ENSP00000264934:E630K	E	-	1	0	MTMR12	32265667	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.863000	0.69568	2.327000	0.79052	0.462000	0.41574	GAG		TCGA-2J-AABH-01A-21D-A40W-08	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366579.1	1	0	1	59	177	0	86	1	9.999998e-01	17	57	0	86	2		0	0	0	0	0	2	1	1.000000	59	175	0	86	2								-4.787850	1	1	0	0		1	0	0	0	2.042446	0	0.490000	1.910000	0.490000	0.990000	8.000000e-01	1.000000	1.000000	0.965800	0.990000	1	0.900000	1.000000
ENC1	8507	broad.mit.edu	37	5	73930609	73930609	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:73930609T>C	ENST00000302351.4	-	2	2832	c.1702A>G	c.(1702-1704)Atc>Gtc	p.I568V	ENC1_ENST00000509284.1_5'Flank|ENC1_ENST00000537006.1_Missense_Mutation_p.I568V|ENC1_ENST00000510316.1_Missense_Mutation_p.I495V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)			20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)			ACAGTGGTGATGCTGTTCCAC	0.473000																								0							SO:0001583	missense			ENST00000302351.4	1	1	hg19	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	T	6.562	0.471920	0.12461	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.75938	-0.98;-0.98;-0.98	5.75	4.58	0.56647	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	N	0.05124	-0.11	0.54753	D	0.999989	B	0.10296	0.003	B	0.14023	0.01	T	0.45160	-0.9280	10	0.02654	T	1	.	11.5467	0.50698	0.0:0.0698:0.0:0.9302	.	568	O14682	ENC1_HUMAN	V	568;495;568	ENSP00000306356:I568V;ENSP00000423804:I495V;ENSP00000446289:I568V	ENSP00000306356:I568V	I	-	1	0	ENC1	73966365	1.000000	0.71417	0.991000	0.47740	0.939000	0.58152	5.167000	0.64972	1.001000	0.39076	0.459000	0.35465	ATC		TCGA-2J-AABH-01A-21D-A40W-08	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	1	0	1	41	108	0	43	1	1	14	102	0	43	2		0	0	0	0	0	2	1	1.000000	41	106	0	41	2								-20.000000	1	1	0	0		1	1	2	3	2.053985	0	0.490000	1.910000	0.491246	0.990000	8.400000e-01	1.000000	1.000000	0.985617	0.990000	1	0.970000	1.000000
CMYA5	202333	broad.mit.edu	37	5	79031709	79031709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr5:79031709C>A	ENST00000446378.2	+	2	7152	c.7121C>A	c.(7120-7122)tCa>tAa	p.S2374*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5			128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)			AAACAAAAATCACTCCTTTCA	0.368000																								0							SO:0001587	stop_gained			ENST00000446378.2	0	1	hg19	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	C	46	12.721702	0.99691	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.65	-0.142	0.13448	.	2.581580	0.01232	N	0.008365	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	0.8303	0.01129	0.16:0.3584:0.1561:0.3255	.	.	.	.	X	2374	.	ENSP00000394770:S2374X	S	+	2	0	CMYA5	79067465	0.000000	0.05858	0.015000	0.15790	0.868000	0.49771	-0.713000	0.05007	0.051000	0.15978	0.655000	0.94253	TCA		TCGA-2J-AABH-01A-21D-A40W-08	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	1	0	1	39	157	0	49		0	0	0	0	49	2		0	0	0	0	0	2	1	1.000000	39	156	0	49	2								-20.000000	1	1	0	0		1	1	2	3	2.053985	0	0.490000	1.910000	0.491246	0.810000	6.000000e-01	1.000000	1.000000	0.818348	0.810000	0	0.700000	0.940000
AGER	177	broad.mit.edu	37	6	32151673	32151673	+	Silent	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr6:32151673C>T	ENST00000375076.4	-	2	245	c.144G>A	c.(142-144)cgG>cgA	p.R48R	AGER_ENST00000538695.1_Silent_p.R48R|AGER_ENST00000375055.2_Silent_p.R48R|AGER_ENST00000375070.3_Silent_p.R79R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375065.5_Silent_p.R48R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Silent_p.R48R|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000438221.2_Silent_p.R48R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor			9					TCCATTCCAGCCGCTGGGGTG	0.582000																								0							SO:0001819	synonymous_variant			ENST00000375076.4	1	1	hg19	CCDS4746.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	1	0	0	46	238	0	72	1	6.892885e-01	4	10	0	72	2		0	0	0	0	0	2	1	1.000000	44	235	0	70	2								-19.999860	1	1	0	0		1	0	1	1	1.975518	0	0.490000	1.910000	0.474552	0.630000	4.800000e-01	0.810000	0.640000	0.648506	0.630000	0	0.550000	0.730000
PRPS1L1	221823	broad.mit.edu	37	7	18067087	18067087	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:18067087T>C	ENST00000506618.2	-	1	399	c.319A>G	c.(319-321)Atc>Gtc	p.I107V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1			18	Lung NSC(10;0.0385)|all_lung(11;0.0736)				TTGGCAGAGATTGGGGACCGG	0.463000																								0							SO:0001583	missense			ENST00000506618.2	1	1	hg19	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	T	15.27	2.784786	0.49997	2.27E-4	0.0	ENSG00000229937	ENST00000506618	D	0.92699	-3.09	4.47	4.47	0.54385	.	.	.	.	.	D	0.94182	0.8133	M	0.73962	2.25	.	.	.	B	0.28055	0.199	P	0.46275	0.51	D	0.96505	0.9374	8	0.87932	D	0	.	12.0361	0.53425	0.0:0.0:0.0:1.0	.	107	P21108	PRPS3_HUMAN	V	107	ENSP00000424595:I107V	ENSP00000424595:I107V	I	-	1	0	PRPS1L1	18033612	1.000000	0.71417	0.454000	0.27019	0.835000	0.47333	5.212000	0.65225	2.014000	0.59158	0.528000	0.53228	ATC		TCGA-2J-AABH-01A-21D-A40W-08	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	1	0	1	96	339	0	181		0	0	0	0	181	2		0	0	0	0	0	2	1	1.000000	94	333	0	178	2								-20.000000	1	1	121412	2	37	1	0	0	0	2.030770	0	0.490000	1.910000	0.487489	0.890000	7.400000e-01	1.000000	1.000000	0.894876	0.890000	1	0.810000	0.980000
ABCB1	5243	broad.mit.edu	37	7	87138791	87138791	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			C	A	C	C		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr7:87138791C>A	ENST00000265724.3	-	27	3706	c.3289G>T	c.(3289-3291)Gat>Tat	p.D1097Y	ABCB1_ENST00000543898.1_Missense_Mutation_p.D1033Y|ABCB1_ENST00000488737.2_5'UTR	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1			111	Esophageal squamous(14;0.00164)			Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TCTTTGCCATCAAGCAGCTGA	0.453000																								0							SO:0001583	missense			ENST00000265724.3	1	1	hg19	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009182	0.93346	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.92199	-2.99;-2.99	5.86	5.86	0.93980	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.045706	0.85682	D	0.000000	D	0.96614	0.8895	M	0.86028	2.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96715	0.9528	10	0.87932	D	0	-28.0757	19.1758	0.93602	0.0:1.0:0.0:0.0	.	1033;1097	B5AK60;P08183	.;MDR1_HUMAN	Y	878;1097;1033	ENSP00000265724:D1097Y;ENSP00000444095:D1033Y	ENSP00000265724:D1097Y	D	-	1	0	ABCB1	86976727	1.000000	0.71417	0.110000	0.21437	0.346000	0.29079	7.810000	0.86072	2.765000	0.95021	0.655000	0.94253	GAT		TCGA-2J-AABH-01A-21D-A40W-08	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	1	0	1	36	155	0	63	0	9.981705e-01	0	45	0	63	2		0	0	0	0	0	2	1	1.000000	36	154	0	61	2								-20.000000	1	1	0	0		1	0	1	1	2.039687	0	0.490000	1.910000	0.488747	0.760000	5.500000e-01	0.990000	0.760000	0.774714	0.760000	0	0.650000	0.890000
ARC	23237	broad.mit.edu	37	8	143694586	143694586	+	Silent	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:143694586G>T	ENST00000356613.2	-	1	2247	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein			13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)			TGCCCCTCTGGATGAGCTGCT	0.697000																								0							SO:0001819	synonymous_variant			ENST00000356613.2	1	1	hg19	CCDS34950.1																																																																																				TCGA-2J-AABH-01A-21D-A40W-08	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2	1	0	1	60	243	0	39		0	0	0	0	39	2		0	0	0	0	0	2	1	1.000000	59	240	0	39	2								-20.000000	1	0	0	0		1	2	8	10	4.208417	1	0.490000	1.910000	0.754572	0.990000	9.900000e-01	1.000000	1.000000	0.999999	0.990000	1	0.990000	1.000000
ARHGAP39	80728	broad.mit.edu	37	8	145756121	145756121	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr8:145756121G>A	ENST00000276826.5	-	9	3223	c.3022C>T	c.(3022-3024)Cgc>Tgc	p.R1008C	C8orf82_ENST00000524821.1_5'Flank|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.R1008C|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.R1039C|C8orf82_ENST00000313465.5_5'Flank			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39			22					AGCACCATGCGGTTGATGCGG	0.721000																								0							SO:0001583	missense			ENST00000276826.5	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	23.1	4.379235	0.82682	.	.	ENSG00000147799	ENST00000276826;ENST00000377307;ENST00000540274	T;T;T	0.22134	1.97;1.97;1.97	5.19	4.22	0.49857	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.342077	0.28247	N	0.016055	T	0.45657	0.1353	M	0.92970	3.365	0.48341	D	0.999631	D;P	0.61080	0.989;0.872	P;B	0.53722	0.733;0.431	T	0.58956	-0.7544	10	0.87932	D	0	-35.1021	11.8975	0.52663	0.0:0.0:0.7901:0.2099	.	1008;1039	Q9C0H5;Q9C0H5-2	RHG39_HUMAN;.	C	1008;1039;1008	ENSP00000276826:R1008C;ENSP00000366522:R1039C;ENSP00000445075:R1008C	ENSP00000276826:R1008C	R	-	1	0	ARHGAP39	145726929	0.995000	0.38212	1.000000	0.80357	0.993000	0.82548	2.311000	0.43717	2.414000	0.81942	0.561000	0.74099	CGC		TCGA-2J-AABH-01A-21D-A40W-08	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1	1	0	0	19	121	0	16	0	8.777707e-01	1	25	0	16	2		0	0	0	0	0	2	1	0.999994	19	120	0	16	2								-20.000000	1	1	120422	3	23	1	2	6	8	4.301474	1	0.490000	1.910000	0.757432	0.990000	7.600000e-01	1.000000	1.000000	0.979150	0.990000	1	0.980000	1.000000
ANGPTL2	23452	broad.mit.edu	37	9	129851341	129851341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chr9:129851341G>T	ENST00000373425.3	-	5	1976	c.1359C>A	c.(1357-1359)taC>taA	p.Y453*	RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.Y151*	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2			18					GGCCCCCGCGGTACCAGACCC	0.582000																								0							SO:0001587	stop_gained			ENST00000373425.3	0	1	hg19	CCDS6868.1	.	.	.	.	.	.	.	.	.	.	G	42	9.542895	0.99199	.	.	ENSG00000136859	ENST00000373425;ENST00000373417	.	.	.	4.98	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	9.3322	0.38030	0.185:0.0:0.815:0.0	.	.	.	.	X	453;151	.	ENSP00000362516:Y151X	Y	-	3	2	ANGPTL2	128891162	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.766000	0.38491	1.221000	0.43506	0.655000	0.94253	TAC		TCGA-2J-AABH-01A-21D-A40W-08	ANGPTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054129.1	1	0	1	119	407	0	146	1	9.999458e-01	3	48	0	146	2		0	0	0	0	0	2	1	1.000000	117	401	0	144	2								-20.000000	1	1	0	0		1	0	0	0	2.048222	0	0.490000	1.910000	0.490000	0.910000	7.700000e-01	1.000000	1.000000	0.919202	0.910000	1	0.840000	1.000000
ARHGAP36	158763	broad.mit.edu	37	X	130220336	130220336	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	p.R439C(1)		71					GGTTGCTAAGCGCGTGTGGAA	0.453000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000276211.5	1	1	hg19	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662549	0.29515	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10860	2.83;2.83;2.84;2.86	4.69	2.74	0.32292	.	0.000000	0.45126	D	0.000397	T	0.12433	0.0302	N	0.08118	0	0.43430	D	0.995599	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.977;0.977;0.948	T	0.15150	-1.0447	10	0.51188	T	0.08	.	8.361	0.32359	0.4276:0.5724:0.0:0.0	.	408;427;439	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	C	439;427;408;303	ENSP00000276211:R439C;ENSP00000359960:R427C;ENSP00000408515:R408C;ENSP00000359959:R303C	ENSP00000276211:R439C	R	+	1	0	ARHGAP36	130048017	0.993000	0.37304	0.999000	0.59377	0.117000	0.20001	0.628000	0.24522	1.059000	0.40554	0.600000	0.82982	CGC		TCGA-2J-AABH-01A-21D-A40W-08	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	1	0	1	72	93	0	52		0	0	0	0	52	2		0	0	0	0	0	2	1	1.000000	70	91	0	52	2								-14.777580	1	1	0	0		1	0	1	1			0.490000	1.910000	0.490000	0.870000	7.200000e-01	0.990000	0.890000	0.874874	0.870000	1	0.800000	0.950000
TREX2	11219	broad.mit.edu	37	X	152710707	152710707	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABH-01A-21D-A40W-08	TCGA-2J-AABH-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d5b7cb-2d22-4b49-b1af-f9593da996c5	796dcb9d-4215-4771-9aca-179834a65836	g.chrX:152710707G>A	ENST00000334497.2	-	11	1452	c.311C>T	c.(310-312)aCg>aTg	p.T104M	TREX2_ENST00000338525.2_Missense_Mutation_p.T61M|TREX2_ENST00000330912.2_Missense_Mutation_p.T61M|TREX2_ENST00000402951.1_Missense_Mutation_p.T104M|TREX2_ENST00000414588.1_Missense_Mutation_p.T103M|TREX2_ENST00000370231.2_Missense_Mutation_p.T61M|TREX2_ENST00000370232.1_Missense_Mutation_p.T104M|HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000393862.2_Missense_Mutation_p.T61M			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2			11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				CATGCACAGCGTGAGCTTGTC	0.657000								Editing and processing nucleases																0							SO:0001583	missense			ENST00000334497.2	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	15.24	2.773557	0.49786	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.04	5.04	0.67666	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.314529	0.22446	U	0.059948	T	0.41789	0.1174	M	0.64170	1.965	0.33352	D	0.571157	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.56595	-0.7953	10	0.66056	D	0.02	-21.5773	10.799	0.46476	0.0:0.1874:0.8126:0.0	.	103;104	Q06S70;Q9BQ50	.;TREX2_HUMAN	M	61;61;61;104;104;104;103;61	ENSP00000377442:T61M;ENSP00000333441:T61M;ENSP00000345218:T61M;ENSP00000334993:T104M;ENSP00000359252:T104M;ENSP00000386078:T104M;ENSP00000401692:T103M;ENSP00000359251:T61M	ENSP00000333441:T61M	T	-	2	0	TREX2	152363901	1.000000	0.71417	0.930000	0.37139	0.399000	0.30720	4.237000	0.58681	2.082000	0.62665	0.529000	0.55759	ACG		TCGA-2J-AABH-01A-21D-A40W-08	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000060966.1	1	0	1	29	37	0	24	0	1.925466e-01	1	1	0	24	2		0	0	0	0	0	2	1	1.000000	28	37	0	24	2								-20.000000	1	1	121306	5	32	1	0	1	1			0.490000	1.910000	0.490000	0.850000	6.400000e-01	0.990000	0.880000	0.849707	0.850000	1	0.740000	0.950000
