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
MED14	9282	broad.mit.edu	37	X	40539348	40539348	+	Frame_Shift_Del	DEL	T	T	-			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:40539348delT	ENST00000324817.1	-	21	2766	c.2648delA	c.(2647-2649)aacfs	p.N883fs	MED14_ENST00000496531.2_Intron	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14			39					GGGGAGTTTGTTGATGGCATT	0.463000																								0							SO:0001589	frameshift_variant			ENST00000324817.1	1	1	hg19	CCDS14254.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	0	0	0	55	474	0	198	0	8.573461e-01	0	32	0	198	2	0	0	0	0	0	0		1	1.000000	57	470	0	197	2	0	0	0	0	0	0		-20.000000	1	1	0	0		1	0	1	1			0.290000	1.940000	0.290000	0.710000	0.540000	0.900000	0.720000	0.723861	0.710000	0	6.200000e-01	8.100000e-01
GPR26	2849	broad.mit.edu	37	10	125426350	125426350	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125426350G>A	ENST00000284674.1	+	1	480	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26			20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)			CGCCGCGCTCGCCCTGTCCTG	0.711000																								0							SO:0001583	missense			ENST00000284674.1	1	1	hg19	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	G	8.529	0.870536	0.17322	.	.	ENSG00000154478	ENST00000284674	T	0.71579	-0.58	4.02	-0.719	0.11201	GPCR, rhodopsin-like superfamily (1);	0.365001	0.27764	N	0.017959	T	0.40815	0.1132	N	0.22421	0.69	0.27577	N	0.949701	P	0.42161	0.772	B	0.31495	0.131	T	0.39781	-0.9597	10	0.23302	T	0.38	-8.2856	3.0124	0.06048	0.0986:0.1142:0.2647:0.5225	.	143	Q8NDV2	GPR26_HUMAN	T	143	ENSP00000284674:A143T	ENSP00000284674:A143T	A	+	1	0	GPR26	125416340	1.000000	0.71417	0.565000	0.28409	0.004000	0.04260	4.445000	0.60007	0.030000	0.15379	-0.878000	0.02970	GCC		TCGA-F2-A44G-01A-11D-A26I-08	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1	1	0	1	20	117	0	29		0	0	0	0	29	2		0	0	0	0	0	2	1	0.999997	20	117	0	28	2		0	0	0	0	29	2	-20.000000	1	1	0	0		1	1	2	3	2.025644	0	0.290000	1.940000	0.292053	0.990000	0.650000	1.000000	1.000000	0.932100	0.990000	1	8.100000e-01	1
CPXM2	119587	broad.mit.edu	37	10	125506294	125506294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr10:125506294G>A	ENST00000241305.3	-	14	2411	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2			47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)			CCACGCTGTCGTCTCTTCTGC	0.577000																								0							SO:0001587	stop_gained			ENST00000241305.3	0	1	hg19	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	39	7.799577	0.98495	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	.	.	.	5.62	4.71	0.59529	.	0.133527	0.46145	D	0.000305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0889	13.5288	0.61611	0.0:0.0:0.7185:0.2815	.	.	.	.	X	753;586;728	.	ENSP00000241305:R753X	R	-	1	2	CPXM2	125496284	1.000000	0.71417	0.543000	0.28128	0.885000	0.51271	3.065000	0.49994	1.347000	0.45714	0.655000	0.94253	CGA		TCGA-F2-A44G-01A-11D-A26I-08	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	1	0	1	75	465	0	129	0	9.995734e-01	0	72	0	129	2		0	0	0	0	0	2	1	1.000000	75	459	0	127	2		0	0	0	0	129	2	-20.000000	1	1	121412	1	32	1	1	2	3	2.025644	0	0.290000	1.940000	0.292053	0.950000	0.760000	1.000000	1.000000	0.939681	0.950000	1	8.500000e-01	1
MMP3	4314	broad.mit.edu	37	11	102708080	102708080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:102708080C>A	ENST00000299855.5	-	9	1538	c.1282G>T	c.(1282-1284)Gaa>Taa	p.E428*	WTAPP1_ENST00000525739.2_RNA	NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)			22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		Marimastat(DB00786)	GGAAAGTCTTCAGCTATTTGC	0.393000																								0							SO:0001587	stop_gained			ENST00000299855.5	0	1	hg19	CCDS8323.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028856	0.35797	.	.	ENSG00000149968	ENST00000299855	.	.	.	5.17	4.18	0.49190	.	1.143500	0.06851	N	0.797303	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	14.2805	0.66208	0.0:0.9177:0.0:0.0823	.	.	.	.	X	428	.	ENSP00000299855:E428X	E	-	1	0	MMP3	102213290	0.000000	0.05858	0.892000	0.35008	0.436000	0.31835	-0.170000	0.09897	2.687000	0.91594	0.655000	0.94253	GAA		TCGA-F2-A44G-01A-11D-A26I-08	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	1	0	0	51	460	0	124	0	7.483068e-01	0	26	0	124	2		0	0	0	0	0	2	1	1.000000	51	458	0	122	2		0	0	0	0	124	2	-16.647820	1	1	0	0		1	1	2	3	2.031189	0	0.290000	1.940000	0.294094	0.690000	0.520000	1.000000	0.690000	0.708416	0.690000	0	6.000000e-01	8.000000e-01
OR51B5	282763	broad.mit.edu	37	11	5364521	5364521	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:5364521C>T	ENST00000300773.2	-	1	288	c.234G>A	c.(232-234)acG>acA	p.T78T	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5			28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)			CTCCCAGCACCGTGGGCATTG	0.537000																								0							SO:0001819	synonymous_variant			ENST00000300773.2	1	1	hg19	CCDS31378.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	1	0	0	45	288	0	101		0	0	0	0	101	2		0	0	0	0	0	2	1	1.000000	45	285	0	98	2		0	0	0	0	101	2	-3.222404	1	1	121412	3	32	1	1	2	3	2.025741	0	0.290000	1.940000	0.292053	0.930000	0.690000	1.000000	1.000000	0.915084	0.930000	1	8.100000e-01	1
RTN3	10313	broad.mit.edu	37	11	63520109	63520109	+	Missense_Mutation	SNP	T	T	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr11:63520109T>A	ENST00000377819.5	+	5	3023	c.2869T>A	c.(2869-2871)Tcc>Acc	p.S957T	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S845T|RTN3_ENST00000537981.1_Missense_Mutation_p.S161T|RTN3_ENST00000356000.3_Missense_Mutation_p.S180T|RTN3_ENST00000339997.4_Missense_Mutation_p.S938T|RTN3_ENST00000341307.2_Missense_Mutation_p.S161T	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3			20					TCTGGTTGACTCCTTGAAGGT	0.413000																								0							SO:0001583	missense			ENST00000377819.5	1	1	hg19	CCDS58141.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.019868	0.93462	.	.	ENSG00000133318	ENST00000341307;ENST00000356000;ENST00000377819;ENST00000339997;ENST00000540798;ENST00000537981	T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.76838	2.35	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.998;0.999;0.997;0.997;0.998	D;D;D;D;D;D	0.85130	0.997;0.996;0.994;0.919;0.993;0.994	T	0.73467	-0.3973	10	0.87932	D	0	-10.1047	13.8015	0.63204	0.0:0.0:0.0:1.0	.	845;957;161;161;938;180	F5H774;O95197;O95197-5;O95197-3;O95197-2;O95197-4	.;RTN3_HUMAN;.;.;.;.	T	161;180;957;938;845;161	ENSP00000340903:S161T;ENSP00000348279:S180T;ENSP00000367050:S957T;ENSP00000344106:S938T;ENSP00000442733:S845T;ENSP00000440874:S161T	ENSP00000344106:S938T	S	+	1	0	RTN3	63276685	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.825000	0.86693	2.149000	0.67028	0.374000	0.22700	TCC		TCGA-F2-A44G-01A-11D-A26I-08	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	1	0	1	119	778	0	340	1	1	107	219	0	340	2		0	0	0	0	0	2	1	1.000000	119	768	0	338	2		0	0	0	0	340	2	-20.000000	1	1	0	0		1	1	2	3	2.031189	0	0.290000	1.940000	0.294094	0.910000	0.770000	1.000000	1.000000	0.918485	0.910000	1	8.400000e-01	1
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-F2-A44G-01A-11D-A26I-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	17	100	0	25	1	9.093047e-01	14	13	0	25	2	1	1	29	183	0	244	2	1	0.999976	17	99	0	25	2	1	1	1323	6691	0	25	2	-11.082890	1	1	121404	2	44	1	0	0	0	2.005076	0	0.290000	1.940000	0.285858	0.990000	0.610000	1.000000	1.000000	0.920561	0.990000	1	7.900000e-01	1
KRT76	51350	broad.mit.edu	37	12	53170616	53170616	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr12:53170616C>A	ENST00000332411.2	-	1	513	c.460G>T	c.(460-462)Gga>Tga	p.G154*		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76			27					TCCTGAATTCCCCCAGGAAAG	0.577000																								0							SO:0001587	stop_gained			ENST00000332411.2	0	1	hg19	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017156	0.93404	.	.	ENSG00000185069	ENST00000332411	.	.	.	4.47	4.47	0.54385	.	0.000000	0.45606	D	0.000341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.9243	0.70866	0.0:0.856:0.144:0.0	.	.	.	.	X	154	.	ENSP00000330101:G154X	G	-	1	0	KRT76	51456883	0.765000	0.28485	0.996000	0.52242	0.746000	0.42486	2.690000	0.47001	2.775000	0.95449	0.555000	0.69702	GGA		TCGA-F2-A44G-01A-11D-A26I-08	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	1	0	1	36	234	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	1.000000	35	229	0	38	2		0	0	0	0	38	2	-16.906920	1	1	0	0		1	0	0	0	2.005076	0	0.290000	1.940000	0.285858	0.910000	0.650000	1.000000	1.000000	0.896815	0.910000	1	7.700000e-01	1
ZFYVE26	23503	broad.mit.edu	37	14	68274196	68274196	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr14:68274196G>A	ENST00000347230.4	-	5	943	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R269W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26			94					AGCAGGCCCCGGCTGGCCTTG	0.612000																								0							SO:0001583	missense			ENST00000347230.4	1	1	hg19	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104323	0.20632	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.29142	1.72;1.58	5.57	1.59	0.23543	.	0.928117	0.09227	N	0.831027	T	0.25938	0.0632	L	0.47716	1.5	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.04013	0.0;0.0;0.001	T	0.26744	-1.0094	10	0.37606	T	0.19	-3.9128	7.1516	0.25614	0.1304:0.0:0.6248:0.2448	.	269;269;269	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	W	269;248;269	ENSP00000251119:R269W;ENSP00000450603:R269W	ENSP00000251119:R269W	R	-	1	2	ZFYVE26	67343949	0.000000	0.05858	0.000000	0.03702	0.642000	0.38348	0.592000	0.23984	0.018000	0.15052	-0.424000	0.05967	CGG		TCGA-F2-A44G-01A-11D-A26I-08	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	1	0	1	39	215	0	57	0	2.473381e-02	0	2	0	57	2		0	0	0	0	0	2	1	1.000000	38	213	0	57	2		0	0	0	0	57	2	-3.333297	1	1	121412	4	33	1	1	2	3	2.035704	0	0.290000	1.940000	0.295110	0.990000	0.780000	1.000000	1.000000	0.970612	0.990000	1	9.100000e-01	1
AQR	9716	broad.mit.edu	37	15	35168180	35168180	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr15:35168180C>A	ENST00000156471.5	-	28	3418	c.3193G>T	c.(3193-3195)Gct>Tct	p.A1065S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor			57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)			AGAATCTGAGCAGCCTCTTCC	0.343000																								0							SO:0001583	missense			ENST00000156471.5	1	1	hg19	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507263	0.85282	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	T	0.80123	-1.34	5.03	4.1	0.47936	.	0.047169	0.85682	N	0.000000	D	0.87865	0.6285	M	0.66439	2.03	0.58432	D	0.999994	D	0.76494	0.999	D	0.77004	0.989	D	0.88104	0.2821	10	0.52906	T	0.07	-15.6622	14.693	0.69101	0.1464:0.8536:0.0:0.0	.	1065	O60306	AQR_HUMAN	S	1065	ENSP00000156471:A1065S	ENSP00000156471:A1065S	A	-	1	0	AQR	32955472	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.814000	0.86154	1.075000	0.40932	0.650000	0.86243	GCT		TCGA-F2-A44G-01A-11D-A26I-08	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	1	0	1	50	371	0	130	1	5.513012e-01	4	11	0	130	2		0	0	0	0	0	2	1	1.000000	50	369	0	128	2		0	0	0	0	130	2	-18.773530	1	1	0	0		1	1	2	3	2.040059	0	0.290000	1.940000	0.295110	0.820000	0.620000	1.000000	1.000000	0.835510	0.820000	0	7.200000e-01	9.600000e-01
CCNF	899	broad.mit.edu	37	16	2495532	2495532	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:2495532G>T	ENST00000397066.4	+	10	1091	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F			20		Ovarian(90;0.17)			GCACCTGACCGTGGAGTGTGT	0.607000																								0							SO:0001583	missense			ENST00000397066.4	1	1	hg19	CCDS10467.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638473	0.87760	.	.	ENSG00000162063	ENST00000397066;ENST00000293968	T	0.15718	2.4	5.5	5.5	0.81552	Cyclin, N-terminal (2);Cyclin-like (3);	0.056215	0.64402	D	0.000001	T	0.48295	0.1492	M	0.87827	2.91	0.58432	D	0.999998	D	0.71674	0.998	D	0.67548	0.952	T	0.55490	-0.8133	10	0.87932	D	0	-26.3978	17.9615	0.89086	0.0:0.0:1.0:0.0	.	335	P41002	CCNF_HUMAN	L	335;250	ENSP00000380256:V335L	ENSP00000293968:V250L	V	+	1	0	CCNF	2435533	1.000000	0.71417	0.961000	0.40146	0.953000	0.61014	7.645000	0.83430	2.586000	0.87340	0.557000	0.71058	GTG		TCGA-F2-A44G-01A-11D-A26I-08	CCNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250801.1	1	0	1	51	339	0	130	1	3.383518e-01	3	6	0	130	2		0	0	0	0	0	2	1	1.000000	51	330	0	127	2		0	0	0	0	130	2	-3.142791	1	1	0	0		1	1	2	3	2.041925	0	0.290000	1.940000	0.296124	0.910000	0.690000	1.000000	1.000000	0.904081	0.910000	1	7.900000e-01	1
GRIN2A	2903	broad.mit.edu	37	16	9934952	9934952	+	Silent	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr16:9934952G>T	ENST00000396573.2	-	7	1647	c.1338C>A	c.(1336-1338)acC>acA	p.T446T	GRIN2A_ENST00000396575.2_Silent_p.T446T|GRIN2A_ENST00000330684.3_Silent_p.T446T|GRIN2A_ENST00000404927.2_Silent_p.T446T|GRIN2A_ENST00000562109.1_Silent_p.T446T|GRIN2A_ENST00000535259.1_Silent_p.T289T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A			198				Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TCCCCTCATTGGTTGAATTGC	0.403000																								0							SO:0001819	synonymous_variant			ENST00000396573.2	1	1	hg19	CCDS10539.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3	0	0	1	60	390	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	1.000000	60	386	0	111	2		0	0	0	0	111	2	-3.221939	1	1	0	0		1	1	2	3	2.041925	0	0.290000	1.940000	0.296124	0.930000	0.720000	1.000000	1.000000	0.918260	0.930000	1	8.200000e-01	1
MYH2	4620	broad.mit.edu	37	17	10432367	10432367	+	Silent	SNP	G	G	A	rs139130605		TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:10432367G>A	ENST00000245503.5	-	27	3768	c.3384C>T	c.(3382-3384)atC>atT	p.I1128I	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.I1128I|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult			176					GCTCTGCCTCGATTTCCTCCT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000245503.5	1	1	hg19	CCDS11156.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	1	0	1	58	330	0	100		0	0	0	0	100	2		0	0	0	0	0	2	1	1.000000	47	276	0	122	2		0	0	0	0	100	2	-20.000000	1	1	121396	12	40	1	0	1	1	1.761433	1	0.290000	1.940000	0.172398	0.860000	0.670000	1.000000	1.000000	0.861971	0.860000	1	7.600000e-01	9.500000e-01
DNAH9	1770	broad.mit.edu	37	17	11837209	11837209	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr17:11837209G>A	ENST00000262442.4	+	65	12378	c.12310G>A	c.(12310-12312)Gat>Aat	p.D4104N	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.D416N|DNAH9_ENST00000454412.2_Missense_Mutation_p.D4028N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9			290		Breast(5;0.0122)|all_epithelial(5;0.131)			CCCCTATGATGATTTGCGCTA	0.532000																								0							SO:0001583	missense			ENST00000262442.4	1	1	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.813398	0.90790	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703;ENST00000396001	T;T;T	0.10192	2.9;2.9;2.9	5.0	5.0	0.66597	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.41119	0.1145	M	0.88031	2.925	0.80722	D	1	D	0.64830	0.994	D	0.71870	0.975	T	0.45556	-0.9253	10	0.66056	D	0.02	.	18.8498	0.92224	0.0:0.0:1.0:0.0	.	4104	Q9NYC9	DYH9_HUMAN	N	4104;4028;2610;416	ENSP00000262442:D4104N;ENSP00000414874:D4028N;ENSP00000379323:D416N	ENSP00000262442:D4104N	D	+	1	0	DNAH9	11777934	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	9.601000	0.98297	2.761000	0.94854	0.650000	0.86243	GAT		TCGA-F2-A44G-01A-11D-A26I-08	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	1	0	1	51	297	0	113		0	0	0	0	113	2		0	0	0	0	0	2	1	1.000000	50	294	0	112	2		0	0	0	0	113	2	-19.999930	1	1	0	0		1	0	1	1	1.761433	1	0.290000	1.940000	0.172398	0.840000	0.650000	1.000000	1.000000	0.846720	0.840000	0	7.400000e-01	9.400000e-01
JAK3	3718	broad.mit.edu	37	19	17943473	17943473	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:17943473G>A	ENST00000527670.1	-	18	2564	c.2535C>T	c.(2533-2535)ggC>ggT	p.G845G	JAK3_ENST00000458235.1_Silent_p.G845G|JAK3_ENST00000534444.1_Silent_p.G845G			P52333	JAK3_HUMAN	Janus kinase 3			147				Tofacitinib(DB08895)	CTGTATTGTCGCCTAGCGGGT	0.617000		2	Mis		acute megakaryocytic leukemia, ETP ALL										Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0							SO:0001819	synonymous_variant			ENST00000527670.1	1	1	hg19	CCDS12366.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	1	94	595	0	145	1	3.565613e-01	2	7	0	145	2		0	0	0	0	0	2	1	1.000000	93	585	0	144	2		0	0	0	0	145	2	-3.318797	1	1	121412	3	38	1	1	2	3	2.044205	0	0.290000	1.940000	0.296124	0.950000	0.770000	1.000000	1.000000	0.938149	0.950000	1	8.600000e-01	1
EEF2	1938	broad.mit.edu	37	19	3980040	3980040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:3980040G>T	ENST00000309311.6	-	10	1459	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2			21		Hepatocellular(1079;0.137)			TGGGCTCCACGTAGCGGCCCA	0.627000													Colon(165;1804 1908 4071 6587 18799)											0							SO:0001587	stop_gained			ENST00000309311.6	0	1	hg19	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	G	36	5.671855	0.96754	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	.	.	.	5.45	-4.98	0.03019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-38.4193	14.8867	0.70575	0.5244:0.0:0.4756:0.0	.	.	.	.	X	457	.	ENSP00000307940:Y457X	Y	-	3	2	EEF2	3931040	0.000000	0.05858	0.873000	0.34254	0.950000	0.60333	-2.827000	0.00746	-0.965000	0.03591	-1.134000	0.01955	TAC		TCGA-F2-A44G-01A-11D-A26I-08	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	1	0	1	24	188	0	50	1	1	42	1753	0	50	2	1	1	69	370	0	470	2	1	1.000000	24	187	0	50	2		0	0	0	0	50	2	-20.000000	1	1	0	0		1	1	2	3	2.052462	0	0.290000	1.940000	0.297134	0.800000	0.530000	1.000000	1.000000	0.807482	0.800000	0	6.500000e-01	9.900000e-01
DHDH	27294	broad.mit.edu	37	19	49447742	49447742	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:49447742C>T	ENST00000221403.2	+	6	913	c.873C>T	c.(871-873)caC>caT	p.H291H	DHDH_ENST00000523250.1_Silent_p.H152H|DHDH_ENST00000522614.1_Intron	NM_014475.3	NP_055290.1	Q9UQ10	DHDH_HUMAN	dihydrodiol dehydrogenase (dimeric)			9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)			AGGCCAAGCACGTCTGGGAGT	0.617000																								0							SO:0001819	synonymous_variant			ENST00000221403.2	1	1	hg19	CCDS12741.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	DHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381477.1	1	0	0	70	432	0	169	0	2.576603e-01	1	6	0	169	2		0	0	0	0	0	2	1	1.000000	69	428	0	168	2		0	0	0	0	169	2	-20.000000	1	1	120884	2	35	1	1	2	3	2.050566	0	0.290000	1.940000	0.297134	0.970000	0.770000	1.000000	1.000000	0.947341	0.970000	1	8.600000e-01	1
ZNF667	63934	broad.mit.edu	37	19	56953504	56953504	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:56953504C>T	ENST00000504904.3	-	7	1579	c.860G>A	c.(859-861)gGg>gAg	p.G287E	ZNF667_ENST00000292069.6_Missense_Mutation_p.G287E|ZNF667_ENST00000342634.3_Missense_Mutation_p.G415E|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667			38		Colorectal(82;0.000256)|Ovarian(87;0.243)			GAAGCCTCTCCCACATTTATT	0.363000																								0							SO:0001583	missense			ENST00000504904.3	1	1	hg19	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	6.063	0.380022	0.11466	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.35421	1.31;1.31;1.31	5.05	2.86	0.33363	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.500329	0.16953	N	0.192810	T	0.24851	0.0603	L	0.41356	1.27	0.25144	N	0.990479	P;P	0.39748	0.686;0.551	B;B	0.33960	0.173;0.085	T	0.11421	-1.0588	10	0.56958	D	0.05	-0.6017	7.2307	0.26040	0.0:0.7256:0.0:0.2744	.	415;287	E7EPS0;Q5HYK9	.;ZN667_HUMAN	E	415;287;287;69	ENSP00000344699:G415E;ENSP00000439402:G287E;ENSP00000292069:G287E	ENSP00000292069:G287E	G	-	2	0	ZNF667	61645316	0.021000	0.18746	0.015000	0.15790	0.010000	0.07245	2.416000	0.44644	0.676000	0.31285	0.591000	0.81541	GGG		TCGA-F2-A44G-01A-11D-A26I-08	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	1	0	1	61	500	0	134	0	3.400070e-02	0	3	0	134	2		0	0	0	0	0	2	1	1.000000	61	497	0	133	2		0	0	0	0	134	2	-3.075755	1	1	0	0		1	1	2	3	2.070933	0	0.290000	1.940000	0.301147	0.770000	0.590000	1.000000	0.760000	0.788680	0.770000	0	6.700000e-01	9.000000e-01
ZNF835	90485	broad.mit.edu	37	19	57175237	57175237	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr19:57175237G>A	ENST00000537055.2	-	2	1561	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835			47					GTGTAGGGCCGCTCGCCCGTG	0.672000																								0							SO:0001583	missense			ENST00000537055.2	1	1	hg19	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.845368	0.51164	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.20332	2.08	2.15	-1.97	0.07503	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44222	0.1283	M	0.83483	2.645	0.25382	N	0.988608	D	0.89917	1.0	D	0.73708	0.981	T	0.34576	-0.9823	9	0.87932	D	0	.	9.9557	0.41666	0.0:0.0:0.2207:0.7793	.	466	Q9Y2P0	ZN835_HUMAN	W	466;444	ENSP00000444747:R444W	ENSP00000341756:R466W	R	-	1	2	ZNF835	61867049	0.000000	0.05858	0.574000	0.28523	0.685000	0.39939	-0.428000	0.06991	-0.414000	0.07495	0.561000	0.74099	CGG		TCGA-F2-A44G-01A-11D-A26I-08	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	1	0	1	76	441	0	120		0	0	0	0	120	2		0	0	0	0	0	2	1	1.000000	75	435	0	119	2		0	0	0	0	120	2	-3.222339	1	1	0	0		1	1	2	3	2.070933	0	0.290000	1.940000	0.301147	0.990000	0.820000	1.000000	1.000000	0.974628	0.990000	1	9.200000e-01	1
IGSF3	3321	broad.mit.edu	37	1	117122285	117122285	+	Missense_Mutation	SNP	G	G	C	rs114915440	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:117122285G>C	ENST00000369486.3	-	10	3828	c.3063C>G	c.(3061-3063)gaC>gaG	p.D1021E	IGSF3_ENST00000318837.6_Missense_Mutation_p.D1041E|IGSF3_ENST00000369483.1_Missense_Mutation_p.D1041E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	p.D1041D(1)|p.D1021D(1)		62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)			cgtcgtcgtcgtcgtcctcct	0.632000																								2	Substitution - coding silent(2)						SO:0001583	missense			ENST00000369486.3	1	0	hg19	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.470330	0.00011	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02890	4.12;4.12;4.12	0.329	0.329	0.15924	Immunoglobulin subtype (1);Immunoglobulin-like (1);	0.329841	0.23883	N	0.043632	T	0.00468	0.0015	N	0.22421	0.69	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46925	-0.9156	8	0.02654	T	1	-2.9576	.	.	.	.	1021;1041	O75054;A6NJZ6	IGSF3_HUMAN;.	E	1021;1041;1041	ENSP00000358498:D1021E;ENSP00000358495:D1041E;ENSP00000321184:D1041E	ENSP00000321184:D1041E	D	-	3	2	IGSF3	116923808	0.026000	0.19158	0.036000	0.18154	0.121000	0.20230	-1.340000	0.02650	-0.471000	0.06891	-0.473000	0.04963	GAC		TCGA-F2-A44G-01A-11D-A26I-08	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	1	0	0	6	125	0	33	1	2.462300e-01	2	16	0	33	2		0	0	0	0	0	2	0	0.000110	20	150	5	38	32		0	0	0	0	33	2	-1.271879	0	0	0	0		1	1	2	3	2.021822	0	0.290000	1.940000	0.292053	0.330000	0.140000	0.690000	0.310000	0.363629	0.330000	0	2.200000e-01	4.900000e-01
SETDB1	9869	broad.mit.edu	37	1	150921869	150921869	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:150921869C>G	ENST00000271640.5	+	12	1638	c.1448C>G	c.(1447-1449)tCa>tGa	p.S483*	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Nonsense_Mutation_p.S483*	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1			12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		CTTGCCCAGTCACGGAAGCAG	0.453000																								0							SO:0001587	stop_gained			ENST00000271640.5	0	1	hg19	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224540	0.95139	.	.	ENSG00000143379	ENST00000271640;ENST00000534805;ENST00000368969;ENST00000498193	.	.	.	4.86	3.9	0.45041	.	0.403570	0.27604	N	0.018633	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	11.7618	0.51908	0.136:0.7327:0.1313:0.0	.	.	.	.	X	483;484;483;483	.	ENSP00000271640:S483X	S	+	2	0	SETDB1	149188493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.799000	0.38824	2.528000	0.85240	0.561000	0.74099	TCA		TCGA-F2-A44G-01A-11D-A26I-08	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2	0	0	0	74	477	0	157	1	2.433135e-01	3	4	0	157	2		0	0	0	0	0	2	1	1.000000	73	474	0	156	2		0	0	0	0	157	2	-20.000000	1	1	0	0		1	0	1	1	2.017220	0	0.290000	1.940000	0.288969	0.920000	0.730000	1.000000	1.000000	0.914964	0.920000	1	8.200000e-01	1
LMX1A	4009	broad.mit.edu	37	1	165177322	165177322	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:165177322C>T	ENST00000342310.3	-	7	1177	c.795G>A	c.(793-795)caG>caA	p.Q265Q	LMX1A_ENST00000367893.4_Silent_p.Q265Q|LMX1A_ENST00000294816.2_Silent_p.Q265Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000489443.2_5'UTR	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha			35	all_hematologic(923;0.248)				TCTGGGTGTTCTGCTGATCTT	0.572000																								0							SO:0001819	synonymous_variant			ENST00000342310.3	1	1	hg19	CCDS1247.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	1	0	0	27	168	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	1.000000	28	168	0	52	2		0	0	0	0	53	2	-20.000000	1	0	0	0		1	0	1	1	2.017220	0	0.290000	1.940000	0.288969	0.950000	0.650000	1.000000	1.000000	0.914132	0.950000	1	7.900000e-01	1
CSMD2	114784	broad.mit.edu	37	1	34158555	34158555	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:34158555C>T	ENST00000373380.1	-	4	866	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Missense_Mutation_p.E1343K			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2			246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)			GCCTCTGCTTCGATGGTCCAG	0.562000																								0							SO:0001583	missense			ENST00000373380.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	36	5.880781	0.97062	.	.	ENSG00000121904	ENST00000373381;ENST00000373380	T;T	0.17854	2.25;2.25	5.52	5.52	0.82312	CUB (5);	0.000000	0.85682	D	0.000000	T	0.36166	0.0957	L	0.45744	1.44	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.993	P;D;D	0.67900	0.87;0.954;0.921	T	0.02075	-1.1218	10	0.56958	D	0.05	.	18.4386	0.90656	0.0:1.0:0.0:0.0	.	216;1303;1343	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	K	1343;216	ENSP00000362479:E1343K;ENSP00000362478:E216K	ENSP00000241312:E1303K	E	-	1	0	CSMD2	33931142	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.747000	0.85070	2.597000	0.87782	0.655000	0.94253	GAA		TCGA-F2-A44G-01A-11D-A26I-08	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	1	0	1	142	780	0	257		0	0	0	0	257	2		0	0	0	0	0	2	1	1.000000	142	774	0	254	2		0	0	0	0	257	2	-3.318872	1	1	121412	1	33	1	1	2	3	2.029795	0	0.290000	1.940000	0.294094	0.990000	0.900000	1.000000	1.000000	0.991676	0.990000	1	9.800000e-01	1
DPYD	1806	broad.mit.edu	37	1	98157326	98157326	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr1:98157326G>A	ENST00000370192.3	-	7	809	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase			83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ACATCATACGGCAGCCGGAAC	0.363000																								0							SO:0001583	missense			ENST00000370192.3	1	1	hg19	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834760	0.91036	.	.	ENSG00000188641	ENST00000370192	D	0.94966	-3.57	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.95872	0.8656	L	0.48986	1.54	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.96387	0.9286	10	0.87932	D	0	-9.0732	18.7184	0.91685	0.0:0.0:1.0:0.0	.	237	Q12882	DPYD_HUMAN	S	237	ENSP00000359211:P237S	ENSP00000359211:P237S	P	-	1	0	DPYD	97929914	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.564000	0.82326	2.497000	0.84241	0.460000	0.39030	CCG		TCGA-F2-A44G-01A-11D-A26I-08	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	1	0	1	63	283	0	118	1	8.990439e-01	7	13	0	118	2		0	0	0	0	0	2	1	1.000000	62	278	0	118	2		0	0	0	0	118	2	-20.000000	1	1	0	0		1	1	2	3	2.029795	0	0.290000	1.940000	0.294094	0.990000	0.990000	1.000000	1.000000	0.998848	0.990000	1	9.900000e-01	1
GNAS	2778	broad.mit.edu	37	20	57429663	57429663	+	Missense_Mutation	SNP	A	A	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr20:57429663A>C	ENST00000371100.4	+	1	1895	c.1343A>C	c.(1342-1344)gAc>gCc	p.D448A	GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.D448A|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.T385P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.D448A|GNAS_ENST00000464624.2_3'UTR	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus			441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		GCGGCCCCTGACGCCCCAGCC	0.771000			Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism, type IA			TSP Lung(22;0.16)			Colon(117;935 1597 6045 8307 46442)		Dom	yes		20	20q13.2	2778	guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1	yes	E	0							SO:0001583	missense			ENST00000371100.4	0	1	hg19	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.48|10.48	1.360743|1.360743	0.24598|0.24598	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102|ENST00000306120	D;D|.	0.88277|.	-2.28;-2.36|.	4.94|4.94	-7.29|-7.29	0.01451|0.01451	.|.	2585.400000|.	0.00738|.	N|.	0.000990|.	T|T	0.16428|0.16428	0.0395|0.0395	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.39820|0.39820	-0.9595|-0.9595	10|6	0.08381|0.45353	T|T	0.77|0.12	.|.	10.372|10.372	0.44060|0.44060	0.5274:0.2745:0.1982:0.0|0.5274:0.2745:0.1982:0.0	.|.	448|.	Q5JWF2|.	GNAS1_HUMAN|.	A|P	448|385	ENSP00000360141:D448A;ENSP00000360143:D448A|.	ENSP00000360140:D448A|ENSP00000302237:T385P	D|T	+|+	2|1	0|0	GNAS|GNAS	56863058|56863058	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.053000|0.053000	0.15095|0.15095	-0.231000|-0.231000	0.09069|0.09069	-1.486000|-1.486000	0.01851|0.01851	-0.464000|-0.464000	0.05259|0.05259	GAC|ACG		TCGA-F2-A44G-01A-11D-A26I-08	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	0	0	0	6	21	0	10		0	0	0	0	10	2	0	1.390002e-01	2	12	1	6	6	0	0.737783	0	11	0	4	2		0	0	0	0	10	2	-14.381970	1	0	93804	1	26	1	1	2	3	2.028414	0	0.290000	1.940000	0.292053	0.990000	0.660000	1.000000	1.000000	0.971064	0.990000	1	9.900000e-01	1
APOBEC3B	9582	broad.mit.edu	37	22	39382043	39382043	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr22:39382043C>T	ENST00000333467.3	+	3	446	c.401C>T	c.(400-402)gCg>gTg	p.A134V	APOBEC3B_ENST00000402182.3_Missense_Mutation_p.A134V|APOBEC3B_ENST00000407298.3_Missense_Mutation_p.A134V	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B			13	Melanoma(58;0.04)				TACCGAAGGGCGCTCTGCAGG	0.607000																								0							SO:0001583	missense			ENST00000333467.3	1	1	hg19	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350943	0.41599	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.67698	-0.28;-0.28;-0.28	2.12	-1.53	0.08611	APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.66528	0.2798	M	0.64997	1.995	0.09310	N	1	P;D	0.61697	0.92;0.99	B;P	0.53649	0.375;0.731	T	0.57171	-0.7857	9	0.56958	D	0.05	.	3.7999	0.08754	0.3031:0.2104:0.4865:0.0	.	134;134	B0QYD2;Q9UH17	.;ABC3B_HUMAN	V	134	ENSP00000385068:A134V;ENSP00000385060:A134V;ENSP00000327459:A134V	ENSP00000327459:A134V	A	+	2	0	APOBEC3B	37711989	1.000000	0.71417	0.002000	0.10522	0.013000	0.08279	2.701000	0.47094	-0.292000	0.08999	0.194000	0.17425	GCG		TCGA-F2-A44G-01A-11D-A26I-08	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	1	0	0	57	420	0	140	1	6.540285e-01	13	5	0	140	2		0	0	0	0	0	2	1	1.000000	51	355	0	125	2		0	0	0	0	140	2	-3.318794	1	1	120572	3	36	1	0	0	0	1.958883	0	0.290000	1.940000	0.266605	0.790000	0.610000	0.990000	0.800000	0.802504	0.790000	0	6.900000e-01	9.000000e-01
MALL	7851	broad.mit.edu	37	2	110849265	110849265	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:110849265G>A	ENST00000272462.2	-	2	961	c.188C>T	c.(187-189)tCg>tTg	p.S63L	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like			9					CGAGGTGAGCGAGACATACAT	0.448000																								0							SO:0001583	missense			ENST00000272462.2	1	1	hg19	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645261	0.47258	.	.	ENSG00000144063	ENST00000272462	T	0.27557	1.66	3.47	3.47	0.39725	Marvel (1);MARVEL-like domain (1);	0.000000	0.49916	D	0.000125	T	0.60586	0.2280	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69892	-0.5022	10	0.66056	D	0.02	-15.224	12.7991	0.57576	0.0:0.0:1.0:0.0	.	63	Q13021	MALL_HUMAN	L	63	ENSP00000272462:S63L	ENSP00000272462:S63L	S	-	2	0	MALL	110206554	1.000000	0.71417	0.887000	0.34795	0.156000	0.22039	5.864000	0.69575	1.664000	0.50801	0.313000	0.20887	TCG		TCGA-F2-A44G-01A-11D-A26I-08	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253921.1	0	0	0	34	470	0	180	0	9.996175e-01	0	165	0	180	2		0	0	0	0	0	2	1	1.000000	34	461	0	181	2		0	0	0	0	180	2	-2.879455	1	1	121412	4	32	1	1	2	3	2.027502	0	0.290000	1.940000	0.292053	0.460000	0.320000	0.660000	0.460000	0.481252	0.460000	0	3.900000e-01	5.600000e-01
CYP27A1	1593	broad.mit.edu	37	2	219678840	219678840	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr2:219678840G>C	ENST00000258415.4	+	6	1541	c.1114G>C	c.(1114-1116)Ggg>Cgg	p.G372R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1			26		Renal(207;0.0474)		Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGTGCCAGCCGGGCAAGTGCC	0.587000																								0							SO:0001583	missense			ENST00000258415.4	1	1	hg19	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905864	0.52333	.	.	ENSG00000135929	ENST00000258415	T	0.70282	-0.47	5.76	5.76	0.90799	.	0.048229	0.85682	D	0.000000	T	0.65831	0.2729	L	0.57130	1.785	0.43982	D	0.996674	P	0.38167	0.621	B	0.38755	0.281	T	0.65117	-0.6246	10	0.36615	T	0.2	-35.6709	9.8121	0.40828	0.0748:0.1409:0.7843:0.0	.	372	Q02318	CP27A_HUMAN	R	372	ENSP00000258415:G372R	ENSP00000258415:G372R	G	+	1	0	CYP27A1	219387084	1.000000	0.71417	0.963000	0.40424	0.965000	0.64279	4.040000	0.57333	2.706000	0.92434	0.655000	0.94253	GGG		TCGA-F2-A44G-01A-11D-A26I-08	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4	1	0	1	45	311	0	82	1	9.999518e-01	7	97	0	82	2		0	0	0	0	0	2	1	1.000000	44	307	0	82	2		0	0	0	0	82	2	-2.841741	1	1	0	0		1	0	1	1	2.013637	0	0.290000	1.940000	0.288969	0.860000	0.650000	1.000000	1.000000	0.867665	0.860000	1	7.500000e-01	9.900000e-01
MYLK	4638	broad.mit.edu	37	3	123411658	123411658	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr3:123411658C>T	ENST00000475616.1	-	16	3488	c.3489G>A	c.(3487-3489)gaG>gaA	p.E1163E	MYLK_ENST00000510775.1_5'UTR|MYLK_ENST00000354792.5_5'Flank|MYLK_ENST00000360772.3_Silent_p.E1163E|MYLK_ENST00000359169.1_Silent_p.E1163E|MYLK-AS2_ENST00000515464.1_RNA|MYLK_ENST00000346322.5_Silent_p.E1094E|MYLK-AS2_ENST00000510827.1_RNA|MYLK_ENST00000360304.3_Silent_p.E1163E			Q15746	MYLK_HUMAN	myosin light chain kinase			113		Lung NSC(201;0.0496)			AGCCTCTGTCCTCAGGCAGTG	0.592000																								0							SO:0001819	synonymous_variant			ENST00000475616.1	1	1	hg19	CCDS46896.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	1	0	0	13	333	0	103	0	4.467138e-01	0	38	0	103	2		0	0	0	0	0	2	1	0.999557	13	333	0	101	2		0	0	0	0	103	2	-3.153545	1	1	0	0		1	1	2	3	2.024136	0	0.290000	1.940000	0.292053	0.260000	0.140000	0.450000	0.260000	0.283397	0.260000	0	2.000000e-01	3.500000e-01
METTL14	57721	broad.mit.edu	37	4	119609076	119609076	+	Splice_Site	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119609076A>G	ENST00000388822.5	+	2	233		c.e2-1		METTL14_ENST00000506780.1_Splice_Site			Q9HCE5	MET14_HUMAN	methyltransferase like 14			16					GTCTTTTCTCAGTTGGGAGCT	0.383000																								0							SO:0001630	splice_region_variant			ENST00000388822.5	1	1	hg19	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	.	15.99	2.994997	0.54041	.	.	ENSG00000145388	ENST00000388822;ENST00000508801	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9182	0.79539	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	METTL14	119828524	1.000000	0.71417	0.997000	0.53966	0.490000	0.33462	8.543000	0.90651	2.229000	0.72834	0.523000	0.50628	.		TCGA-F2-A44G-01A-11D-A26I-08	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	1	0	1	48	220	0	79	1	9.074625e-01	21	0	0	79	2		0	0	0	0	0	2	1	1.000000	47	216	0	79	2		0	0	0	0	79	2	-20.000000	1	1	0	0		1	1	2	3	2.024334	0	0.290000	1.940000	0.292053	0.990000	0.940000	1.000000	1.000000	0.996592	0.990000	1	9.900000e-01	1
METTL14	57721	broad.mit.edu	37	4	119626803	119626803	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:119626803G>A	ENST00000388822.5	+	10	1060	c.893G>A	c.(892-894)cGt>cAt	p.R298H	METTL14_ENST00000506780.1_Missense_Mutation_p.R260H			Q9HCE5	MET14_HUMAN	methyltransferase like 14	p.R298P(3)		16					ACTGTGAAGCGTAGCACAGAC	0.373000																								3	Substitution - Missense(3)						SO:0001583	missense			ENST00000388822.5	1	1	hg19	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.942676	0.92526	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.50001	0.76;0.76	5.82	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.76357	0.3976	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83365	0.0004	10	0.72032	D	0.01	-3.4786	15.0159	0.71584	0.0684:0.0:0.9316:0.0	.	260;298	D6RBL4;Q9HCE5	.;MTL14_HUMAN	H	298;260	ENSP00000373474:R298H;ENSP00000424111:R260H	ENSP00000373474:R298H	R	+	2	0	METTL14	119846251	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.229000	0.95273	1.472000	0.48140	0.585000	0.79938	CGT		TCGA-F2-A44G-01A-11D-A26I-08	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364034.3	1	0	1	82	598	0	173	1	9.637034e-01	9	32	0	173	2		0	0	0	0	0	2	1	1.000000	81	594	0	173	2		0	0	0	0	173	2	-20.000000	1	1	0	0		1	1	2	3	2.024334	0	0.290000	1.940000	0.292053	0.830000	0.670000	1.000000	0.830000	0.838961	0.830000	0	7.400000e-01	9.300000e-01
DDX60L	91351	broad.mit.edu	37	4	169374381	169374381	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	p.R297L(1)		43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)			ACAGAGGCAACGCAGTCTGCA	0.458000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000511577.1	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254392	0.05829	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.15718	2.4;2.4;2.4;3.06	3.3	-1.09	0.09904	.	0.782659	0.10119	N	0.713632	T	0.04452	0.0122	N	0.01009	-1.055	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.44360	-0.9333	10	0.14656	T	0.56	.	6.5863	0.22622	0.0:0.3112:0.0:0.6888	.	297;297;297	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	297;297;297;25	ENSP00000260184:R297H;ENSP00000422423:R297H;ENSP00000422202:R297H;ENSP00000421026:R25H	ENSP00000260184:R297H	R	-	2	0	DDX60L	169610956	0.015000	0.18098	0.001000	0.08648	0.759000	0.43091	0.485000	0.22324	-0.458000	0.07023	-0.444000	0.05651	CGT		TCGA-F2-A44G-01A-11D-A26I-08	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	1	0	1	33	249	0	120	1	2.017550e-01	3	4	0	120	2		0	0	0	0	0	2	1	1.000000	33	247	0	120	2		0	0	0	0	120	2	-20.000000	1	1	120932	8	41	1	1	2	3	2.024334	0	0.290000	1.940000	0.292053	0.810000	0.570000	1.000000	1.000000	0.816194	0.810000	0	6.800000e-01	9.600000e-01
EPHA5	2044	broad.mit.edu	37	4	66535410	66535410	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:66535410G>A	ENST00000273854.3	-	1	651	c.51C>T	c.(49-51)ggC>ggT	p.G17G	EPHA5_ENST00000511294.1_Silent_p.G17G|EPHA5_ENST00000354839.4_Silent_p.G17G|EPHA5_ENST00000432638.2_Silent_p.G17G|RP11-807H7.1_ENST00000509473.1_lincRNA	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5			142					TGTCGCCGCCGCCGCTTgggg	0.756000										TSP Lung(17;0.13)														0							SO:0001819	synonymous_variant			ENST00000273854.3	0	1	hg19	CCDS3513.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	0	0	0	4	47	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	0.888377	4	46	0	14	2		0	0	0	0	15	2	-10.653830	1	1	0	0		1	1	2	3	2.022744	0	0.290000	1.940000	0.292053	0.580000	0.200000	1.000000	1.000000	0.611355	0.580000	0	3.600000e-01	8.900000e-01
HELQ	113510	broad.mit.edu	37	4	84342813	84342813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr4:84342813C>T	ENST00000295488.3	-	15	3014	c.2852G>A	c.(2851-2853)tGg>tAg	p.W951*	HELQ_ENST00000510985.1_Nonsense_Mutation_p.W884*	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like			38					AGATACAGTCCAAATGTTGGT	0.358000								Other identified genes with known or suspected DNA repair function																0							SO:0001587	stop_gained			ENST00000295488.3	0	1	hg19	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	42	9.277624	0.99122	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	.	.	.	5.26	5.26	0.73747	.	0.118507	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-3.6571	17.0371	0.86479	0.0:1.0:0.0:0.0	.	.	.	.	X	951;884	.	ENSP00000295488:W951X	W	-	2	0	HELQ	84561837	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.116000	0.77119	2.458000	0.83093	0.591000	0.81541	TGG		TCGA-F2-A44G-01A-11D-A26I-08	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	1	0	1	37	220	0	62	1	4.413151e-01	4	6	0	62	2		0	0	0	0	0	2	1	1.000000	35	219	0	62	2		0	0	0	0	62	2	-2.884609	1	1	0	0		1	1	2	3	2.024334	0	0.290000	1.940000	0.292053	0.990000	0.720000	1.000000	1.000000	0.943313	0.990000	1	8.500000e-01	1
TRPC7	57113	broad.mit.edu	37	5	135587384	135587384	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:135587384G>A	ENST00000513104.1	-	6	1814	c.1532C>T	c.(1531-1533)aCg>aTg	p.T511M	TRPC7_ENST00000355180.3_Missense_Mutation_p.T450M|TRPC7_ENST00000426057.2_Missense_Mutation_p.T395M	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7			46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		ATTGTGCAGCGTGTCGTCCTG	0.602000																								0							SO:0001583	missense			ENST00000513104.1	1	1	hg19	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	11.75	1.730593	0.30684	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	T;T;T	0.79554	-1.08;-1.28;-1.15	5.21	4.28	0.50868	Ion transport (1);	0.529059	0.20685	N	0.087579	T	0.81317	0.4797	L	0.39898	1.24	0.33214	D	0.553753	D;P;P;P	0.61697	0.99;0.814;0.846;0.792	P;B;P;P	0.59595	0.86;0.311;0.46;0.505	T	0.81856	-0.0740	10	0.32370	T	0.25	-11.4232	11.0783	0.48045	0.0:0.0:0.6422:0.3578	.	395;450;456;511	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	M	450;395;511;511	ENSP00000347312:T450M;ENSP00000441628:T395M;ENSP00000426070:T511M	ENSP00000265193:T511M	T	-	2	0	TRPC7	135615283	1.000000	0.71417	0.980000	0.43619	0.056000	0.15407	4.339000	0.59322	2.720000	0.93068	0.650000	0.86243	ACG		TCGA-F2-A44G-01A-11D-A26I-08	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	1	0	1	27	162	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	1.000000	26	158	0	44	2		0	0	0	0	44	2	-20.000000	1	1	121194	1	24	1	0	1	1	2.016298	0	0.290000	1.940000	0.288969	0.980000	0.670000	1.000000	1.000000	0.929090	0.980000	1	8.100000e-01	1
PCDHB11	56125	broad.mit.edu	37	5	140581425	140581425	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140581425C>T	ENST00000354757.3	+	1	2078	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A328V	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	p.A693V(1)		63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		TTGGTGGTGGCGTTGGCCTCG	0.692000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000354757.3	1	1	hg19	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	c	24.3	4.514543	0.85389	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.25250	1.81;1.81	2.64	2.64	0.31445	.	.	.	.	.	T	0.63498	0.2516	H	0.98559	4.265	0.09310	N	1	D	0.76494	0.999	D	0.66196	0.942	T	0.59005	-0.7535	9	0.87932	D	0	.	10.5162	0.44892	0.0:0.8009:0.1991:0.0	.	693	Q9Y5F2	PCDBB_HUMAN	V	328;693	ENSP00000440344:A328V;ENSP00000346802:A693V	ENSP00000346802:A693V	A	+	2	0	PCDHB11	140561609	0.083000	0.21467	0.009000	0.14445	0.760000	0.43138	3.624000	0.54231	1.481000	0.48307	0.449000	0.29647	GCG		TCGA-F2-A44G-01A-11D-A26I-08	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	1	0	1	160	941	0	284		0	0	0	0	284	2		0	0	0	0	0	2	1	1.000000	150	908	0	275	2		0	0	0	0	284	2	-20.000000	1	1	0	0		1	0	1	1	2.016298	0	0.290000	1.940000	0.288969	0.990000	0.850000	1.000000	1.000000	0.972208	0.990000	1	9.200000e-01	1
PCDHGA8	9708	broad.mit.edu	37	5	140772668	140772668	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:140772668C>T	ENST00000398604.2	+	1	288	c.288C>T	c.(286-288)tgC>tgT	p.C96C	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8			51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		AGGAGCTCTGCGCTCAGAGCC	0.498000																								0							SO:0001819	synonymous_variant			ENST00000398604.2	1	1	hg19	CCDS47291.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	0	0	0	13	372	0	119		0	0	0	0	119	2		0	0	0	0	0	2	1	0.999512	12	368	0	119	2		0	0	0	0	119	2	-13.047720	1	1	0	0		1	0	1	1	2.016298	0	0.290000	1.940000	0.288969	0.230000	0.130000	0.380000	0.230000	0.247538	0.230000	0	1.700000e-01	3.100000e-01
ANKH	56172	broad.mit.edu	37	5	14756009	14756009	+	Silent	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:14756009G>A	ENST00000284268.6	-	4	807	c.477C>T	c.(475-477)ttC>ttT	p.F159F	ANKH_ENST00000503939.1_5'Flank	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator			29					ATCCCACCAGGAAACTGTATT	0.453000																								0							SO:0001819	synonymous_variant			ENST00000284268.6	1	1	hg19	CCDS3885.1																																																																																				TCGA-F2-A44G-01A-11D-A26I-08	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	1	0	1	51	258	0	115	1	9.999853e-01	2	84	0	115	2		0	0	0	0	0	2	1	1.000000	51	255	0	113	2		0	0	0	0	115	2	-20.000000	1	1	0	0		1						0.290000	1.940000									0	0
HEXB	3074	broad.mit.edu	37	5	73981215	73981215	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:73981215C>T	ENST00000261416.7	+	1	247	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	HEXB_ENST00000511181.1_Intron	NM_000521.3	NP_000512	P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)			14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)			GGAGGCGGCTCGGGCCCCGAG	0.711000													Melanoma(66;841 1270 13391 18706 27225)											0							SO:0001583	missense			ENST00000261416.7	1	1	hg19	CCDS4022.1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665782	0.29604	.	.	ENSG00000049860	ENST00000261416	D	0.96940	-4.18	1.75	1.75	0.24633	.	0.771240	0.10531	U	0.663835	D	0.85553	0.5723	N	0.08118	0	0.09310	N	0.999993	P	0.45428	0.858	B	0.18561	0.022	T	0.81017	-0.1123	10	0.66056	D	0.02	6.7032	6.0566	0.19815	0.0:0.6722:0.3277:0.0	.	44	P07686	HEXB_HUMAN	W	44	ENSP00000261416:R44W	ENSP00000261416:R44W	R	+	1	2	HEXB	74016971	0.000000	0.05858	0.007000	0.13788	0.039000	0.13416	0.036000	0.13819	0.982000	0.38575	0.313000	0.20887	CGG		TCGA-F2-A44G-01A-11D-A26I-08	HEXB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219859.6	1	0	0	14	81	0	22	1	9.750120e-01	14	25	0	22	2		0	0	0	0	0	2	1	0.999806	14	79	0	21	2		0	0	0	0	22	2	-20.000000	1	1	116604	2	24	1	0	1	1	2.016298	0	0.290000	1.940000	0.288969	0.990000	0.600000	1.000000	1.000000	0.921389	0.990000	1	7.800000e-01	1
VCAN	1462	broad.mit.edu	37	5	82818108	82818108	+	Missense_Mutation	SNP	A	A	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr5:82818108A>G	ENST00000265077.3	+	7	4548	c.3983A>G	c.(3982-3984)gAg>gGg	p.E1328G	VCAN_ENST00000342785.4_Missense_Mutation_p.E1328G|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E1280G|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican			190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		Hyaluronan(DB08818)	TATATTATTGAGGTCAGAGAA	0.403000																								0							SO:0001583	missense			ENST00000265077.3	1	1	hg19	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	A	14.40	2.524357	0.44969	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.86865	-2.1;-2.15;-2.18	5.61	3.08	0.35506	.	0.311300	0.27735	N	0.018078	D	0.90937	0.7151	M	0.71581	2.175	0.27726	N	0.944977	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.922	D	0.84462	0.0594	10	0.87932	D	0	.	9.5811	0.39488	0.7423:0.1873:0.0705:0.0	.	1328;1328	P13611-3;P13611	.;CSPG2_HUMAN	G	1328;1328;1280	ENSP00000265077:E1328G;ENSP00000342768:E1328G;ENSP00000425959:E1280G	ENSP00000265077:E1328G	E	+	2	0	VCAN	82853864	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.791000	0.38744	0.967000	0.38186	-0.256000	0.11100	GAG		TCGA-F2-A44G-01A-11D-A26I-08	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	1	0	1	63	388	0	130	0	5.481393e-02	1	2	0	130	2		0	0	0	0	0	2	1	1.000000	63	385	0	128	2		0	0	0	0	130	2	-20.000000	1	1	0	0		1	0	1	1	2.016298	0	0.290000	1.940000	0.288969	0.950000	0.750000	1.000000	1.000000	0.936869	0.950000	1	8.500000e-01	1
ATP6V0A4	50617	broad.mit.edu	37	7	138447711	138447711	+	Missense_Mutation	SNP	C	C	G			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:138447711C>G	ENST00000310018.2	-	6	633	c.351G>C	c.(349-351)ttG>ttC	p.L117F	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.L117F|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	p.L117F(1)		36					AGCTTTGTTTCAAGGCCTGCT	0.463000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000310018.2	1	1	hg19	CCDS5849.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124827	0.77436	.	.	ENSG00000105929	ENST00000310018;ENST00000393054;ENST00000353492	D;D;D	0.91996	-2.95;-2.95;-2.95	5.21	3.41	0.39046	.	0.154984	0.36444	N	0.002582	D	0.96241	0.8774	M	0.92555	3.32	0.58432	D	0.99999	D	0.63880	0.993	D	0.65773	0.938	D	0.96063	0.9040	10	0.72032	D	0.01	-26.1136	11.3732	0.49713	0.0:0.8512:0.0:0.1488	.	117	Q9HBG4	VPP4_HUMAN	F	117	ENSP00000308122:L117F;ENSP00000376774:L117F;ENSP00000253856:L117F	ENSP00000308122:L117F	L	-	3	2	ATP6V0A4	138098251	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	1.985000	0.40668	0.865000	0.35603	0.655000	0.94253	TTG		TCGA-F2-A44G-01A-11D-A26I-08	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	1	0	1	92	514	0	178		0	0	0	0	178	2		0	0	0	0	0	2	1	1.000000	91	510	0	176	2		0	0	0	0	178	2	-20.000000	1	1	0	0		1	0	0	0	1.997391	0	0.290000	1.940000	0.281667	0.990000	0.840000	1.000000	1.000000	0.977036	0.990000	1	9.300000e-01	1
ATG9B	285973	broad.mit.edu	37	7	150716447	150716447	+	Silent	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr7:150716447C>T	ENST00000377974.2	-	6	1053	c.978G>A	c.(976-978)tcG>tcA	p.S326S	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.S326S|ATG9B_ENST00000444312.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B			14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)		CCCAGGGAACCGAGCTCAGCT	0.667000																								0							SO:0001819	synonymous_variant			ENST00000377974.2	0	1	hg19																																																																																					TCGA-F2-A44G-01A-11D-A26I-08	ATG9B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	0	14	133	0	41	0	0	0	1	0	41	2		0	0	0	0	0	2	1	0.999794	14	132	0	41	2		0	0	0	0	41	2	-19.833590	1	1	0	0		1	0	0	0	2.006556	0	0.290000	1.940000	0.285858	0.650000	0.380000	1.000000	1.000000	0.675509	0.650000	0	5.000000e-01	8.400000e-01
ZFPM2	23414	broad.mit.edu	37	8	106815377	106815377	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:106815377G>A	ENST00000407775.2	+	8	3317	c.3067G>A	c.(3067-3069)Ggg>Agg	p.G1023R	ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G754R|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G891R|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G891R|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2			99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		TTCCTCAAATGGGTGTGCTGC	0.433000																								0							SO:0001583	missense			ENST00000407775.2	1	1	hg19	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774158	0.31411	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.24350	1.86;2.36;2.36;3.56	5.96	5.96	0.96718	.	0.045750	0.85682	D	0.000000	T	0.14442	0.0349	N	0.19112	0.55	0.80722	D	1	P	0.43938	0.822	B	0.32211	0.142	T	0.04811	-1.0925	10	0.33141	T	0.24	.	13.5936	0.61975	0.0705:0.0:0.9295:0.0	.	1023	Q8WW38	FOG2_HUMAN	R	1023;891;891;754	ENSP00000384179:G1023R;ENSP00000430757:G891R;ENSP00000428720:G891R;ENSP00000367733:G754R	ENSP00000367733:G754R	G	+	1	0	ZFPM2	106884553	1.000000	0.71417	0.952000	0.39060	0.888000	0.51559	6.872000	0.75536	2.831000	0.97527	0.650000	0.86243	GGG		TCGA-F2-A44G-01A-11D-A26I-08	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	1	0	0	20	204	0	81	0	2.028125e-01	0	9	0	81	2		0	0	0	0	0	2	1	0.999996	20	203	0	81	2		0	0	0	0	81	2	-2.559130	1	1	0	0		1	1	2	3	2.041160	0	0.290000	1.940000	0.295110	0.630000	0.390000	1.000000	0.610000	0.651935	0.630000	0	5.000000e-01	7.900000e-01
DLGAP2	9228	broad.mit.edu	37	8	1626541	1626541	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr8:1626541C>T	ENST00000421627.2	+	9	2344	c.2210C>T	c.(2209-2211)gCg>gTg	p.A737V	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2			41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)			CAGTACAGCGCGGTGAGAACT	0.632000																								0							SO:0001583	missense			ENST00000421627.2	1	1	hg19	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.22|13.22	2.172334|2.172334	0.38315|0.38315	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.19938|.	2.11|.	5.32|5.32	4.44|4.44	0.53790|0.53790	.|.	0.094982|.	0.64402|.	N|.	0.000001|.	T|T	0.60157|0.60157	0.2247|0.2247	L|L	0.46614|0.46614	1.455|1.455	0.48696|0.48696	D|D	0.999694|0.999694	P;P|.	0.50943|.	0.94;0.894|.	B;P|.	0.46237|.	0.374;0.508|.	T|T	0.57063|0.57063	-0.7875|-0.7875	10|5	0.02654|.	T|.	1|.	-8.3498|-8.3498	13.6933|13.6933	0.62562|0.62562	0.0:0.9256:0.0:0.0744|0.0:0.9256:0.0:0.0744	.|.	802;816|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|W	768;737|740	ENSP00000400258:A737V|.	ENSP00000348366:A768V|.	A|R	+|+	2|1	0|2	DLGAP2|DLGAP2	1613948|1613948	1.000000|1.000000	0.71417|0.71417	0.422000|0.422000	0.26621|0.26621	0.513000|0.513000	0.34164|0.34164	4.501000|4.501000	0.60393|0.60393	1.233000|1.233000	0.43693|0.43693	0.650000|0.650000	0.86243|0.86243	GCG|CGG		TCGA-F2-A44G-01A-11D-A26I-08	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	1	0	1	37	235	0	77		0	0	0	0	77	2		0	0	0	0	0	2	1	1.000000	37	235	0	74	2		0	0	0	0	77	2	-20.000000	1	1	120946	2	27	1	1	2	3	2.075118	0	0.290000	1.940000	0.301147	0.970000	0.690000	1.000000	1.000000	0.928550	0.970000	1	8.200000e-01	1
CDK20	23552	broad.mit.edu	37	9	90584165	90584165	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chr9:90584165C>A	ENST00000325303.8	-	7	1092	c.787G>T	c.(787-789)Gat>Tat	p.D263Y	CDK20_ENST00000605159.1_Missense_Mutation_p.D242Y|CDK20_ENST00000336654.5_Missense_Mutation_p.D255Y|CDK20_ENST00000375883.3_Missense_Mutation_p.D242Y|CDK20_ENST00000375871.4_Missense_Mutation_p.W200C	NM_001039803.2	NP_001034892.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20			1					CCCAGCAGATCCAATGCCTGG	0.597000																								0							SO:0001583	missense			ENST00000325303.8	1	1	hg19	CCDS35060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.29|12.29	1.893182|1.893182	0.33442|0.33442	.|.	.|.	ENSG00000156345|ENSG00000156345	ENST00000375883;ENST00000336654;ENST00000325303;ENST00000286878|ENST00000375871	T;T;T|T	0.55413|0.63744	0.52;0.52;0.52|-0.06	4.64|4.64	3.67|3.67	0.42095|0.42095	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.370436|.	0.29522|.	N|.	0.011907|.	T|T	0.51601|0.51601	0.1684|0.1684	.|.	.|.	.|.	0.37885|0.37885	D|D	0.930512|0.930512	P;D;P|B	0.59357|0.09022	0.856;0.985;0.774|0.002	P;D;P|B	0.66979|0.10450	0.646;0.948;0.832|0.005	T|T	0.58183|0.58183	-0.7681|-0.7681	9|8	0.87932|0.72032	D|D	0|0.01	-26.4582|-26.4582	9.746|9.746	0.40446|0.40446	0.0:0.7261:0.2739:0.0|0.0:0.7261:0.2739:0.0	.|.	255;242;263|200	A2A390;E7EQ88;Q8IZL9|Q8IZL9-2	.;.;CDK20_HUMAN|.	Y|C	242;255;263;242|200	ENSP00000365043:D242Y;ENSP00000338975:D255Y;ENSP00000322343:D263Y|ENSP00000365031:W200C	ENSP00000286878:D242Y|ENSP00000365031:W200C	D|W	-|-	1|3	0|0	CDK20|CDK20	89773985|89773985	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.112000|0.112000	0.19704|0.19704	1.072000|1.072000	0.30678|0.30678	2.296000|2.296000	0.77279|0.77279	0.655000|0.655000	0.94253|0.94253	GAT|TGG		TCGA-F2-A44G-01A-11D-A26I-08	CDK20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214996.1	1	0	1	130	810	0	334	1	4.643487e-01	3	8	0	334	2		0	0	0	0	0	2	1	1.000000	131	800	0	329	2		0	0	0	0	334	2	-20.000000	1	1	0	0		1	0	1	1	1.733556	1	0.290000	1.940000	0.169591	0.800000	0.680000	0.940000	0.810000	0.814928	0.800000	0	7.400000e-01	8.800000e-01
CSTF2	1478	broad.mit.edu	37	X	100078981	100078981	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:100078981C>T	ENST00000372972.2	+	5	567	c.551C>T	c.(550-552)cCg>cTg	p.P184L	CSTF2_ENST00000415585.2_Missense_Mutation_p.P184L|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa			13					ATTGTGGATCCGGAAATTGCC	0.468000																								0							SO:0001583	missense			ENST00000372972.2	1	1	hg19	CCDS14473.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441413	0.83993	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	T;T;T	0.18810	2.27;2.22;2.19	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.56062	0.1960	M	0.92555	3.32	0.80722	D	1	D;P;P	0.71674	0.998;0.723;0.941	D;B;P	0.65323	0.934;0.206;0.603	T	0.69124	-0.5228	10	0.72032	D	0.01	-6.4506	18.0432	0.89324	0.0:1.0:0.0:0.0	.	184;184;184	E7EWR4;P33240-2;P33240	.;.;CSTF2_HUMAN	L	184;184;184;175	ENSP00000387996:P184L;ENSP00000362063:P184L;ENSP00000415705:P175L	ENSP00000362063:P184L	P	+	2	0	CSTF2	99965637	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.237000	0.78164	2.196000	0.70406	0.600000	0.82982	CCG		TCGA-F2-A44G-01A-11D-A26I-08	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	1	0	1	95	715	0	223	1	7.898065e-01	19	5	0	223	2		0	0	0	0	0	2	1	1.000000	95	712	0	223	2		0	0	0	0	223	2	-2.774725	1	1	0	0		1	0	1	1			0.290000	1.940000	0.290000	0.800000	0.660000	0.960000	0.800000	0.812546	0.800000	0	7.200000e-01	8.900000e-01
BHLHB9	80823	broad.mit.edu	37	X	102004384	102004384	+	Missense_Mutation	SNP	C	C	T	rs141213425	byFrequency	TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:102004384C>T	ENST00000372735.1	+	4	1046	c.461C>T	c.(460-462)gCg>gTg	p.A154V	BHLHB9_ENST00000361229.4_Missense_Mutation_p.A154V|BHLHB9_ENST00000447531.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000457056.1_Missense_Mutation_p.A154V|BHLHB9_ENST00000448867.1_Missense_Mutation_p.A154V			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9			26					TTGGAACCTGCGGCTGGGGCC	0.493000																								0							SO:0001583	missense			ENST00000372735.1	1	1	hg19	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	C	0.041	-1.284174	0.01398	2.61E-4	0.00104	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76	4.28	-3.82	0.04281	.	1.511530	0.04870	N	0.445679	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41556	-0.9502	9	.	.	.	-24.6357	6.258	0.20884	0.163:0.5429:0.0:0.2941	.	154	Q6PI77	BHLH9_HUMAN	V	154	ENSP00000403226:A154V;ENSP00000354675:A154V;ENSP00000405893:A154V;ENSP00000391722:A154V;ENSP00000361820:A154V	.	A	+	2	0	BHLHB9	101891040	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.898000	0.04105	-0.959000	0.03618	-0.395000	0.06472	GCG		TCGA-F2-A44G-01A-11D-A26I-08	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	1	0	1	131	809	0	265	0	0	0	1	0	265	2		0	0	0	0	0	2	1	1.000000	130	796	0	263	2		0	0	0	0	265	2	-9.153462	1	0	121410	92	53	1	0	1	1			0.290000	1.940000	0.290000	0.950000	0.810000	1.000000	1.000000	0.947233	0.950000	1	8.800000e-01	1
TEX13A	56157	broad.mit.edu	37	X	104463929	104463929	+	Missense_Mutation	SNP	G	G	T			TCGA-F2-A44G-01A-11D-A26I-08	TCGA-F2-A44G-10A-01D-A26I-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f8fa73-10d9-42ee-9a7c-eac949bef05e	d4186fad-8051-4673-afc4-685faa0ab463	g.chrX:104463929G>T	ENST00000413579.1	-	5	1058	c.947C>A	c.(946-948)aCt>aAt	p.T316N	TEX13A_ENST00000372578.3_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.L317I|IL1RAPL2_ENST00000372582.1_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A			8					AGGGGATATAGTGGGTATGTC	0.557000																								0							SO:0001583	missense			ENST00000413579.1	1	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.45|12.45	1.942954|1.942954	0.34283|0.34283	.|.	.|.	ENSG00000133149|ENSG00000133149	ENST00000372578;ENST00000372575|ENST00000413579	.|.	.|.	.|.	3.32|3.32	1.48|1.48	0.22813|0.22813	.|.	.|1.263750	.|0.05914	.|N	.|0.632236	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.58101|0.58101	1.795|1.795	0.09310|0.09310	N|N	1|1	.|D	.|0.58268	.|0.982	.|P	.|0.52598	.|0.703	T|T	0.21724|0.21724	-1.0237|-1.0237	6|9	0.87932|0.56958	D|D	0|0.05	.|.	3.943|3.943	0.09336|0.09336	0.146:0.2451:0.6089:0.0|0.146:0.2451:0.6089:0.0	.|.	.|316	.|Q9BXU3	.|TX13A_HUMAN	I|N	317|316	.|.	ENSP00000361656:L317I|ENSP00000399753:T316N	L|T	-|-	1|2	2|0	TEX13A|TEX13A	104350585|104350585	0.026000|0.026000	0.19158|0.19158	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	1.926000|1.926000	0.40084|0.40084	0.262000|0.262000	0.21774|0.21774	-0.545000|-0.545000	0.04230|0.04230	CTA|ACT		TCGA-F2-A44G-01A-11D-A26I-08	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		1	0	1	51	332	0	80		0	0	0	0	80	2		0	0	0	0	0	2	1	1.000000	51	329	0	78	2		0	0	0	0	80	2	-20.000000	1	1	0	0		1	0	1	1			0.290000	1.940000	0.290000	0.910000	0.690000	1.000000	1.000000	0.905350	0.910000	1	8.000000e-01	1
