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
HMX3	340784	broad.mit.edu	37	10	124895877	124895877	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:124895877C>T	ENST00000357878.5	+	1	400	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3			4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)			CAGAGGTTTGCCCTGCCCGCG	0.731000																								0							SO:0001583	missense			ENST00000357878.5	0	1	hg19	CCDS41575.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331198	0.60853	.	.	ENSG00000188620	ENST00000357878	D	0.91843	-2.92	4.01	4.01	0.46588	.	0.196683	0.42821	D	0.000649	D	0.86481	0.5943	N	0.24115	0.695	0.41786	D	0.989841	P	0.47762	0.9	B	0.42282	0.382	D	0.86231	0.1637	10	0.31617	T	0.26	.	15.6906	0.77450	0.0:1.0:0.0:0.0	.	104	A6NHT5	HMX3_HUMAN	V	104	ENSP00000350549:A104V	ENSP00000350549:A104V	A	+	2	0	HMX3	124885867	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.500000	0.53318	1.748000	0.51833	0.460000	0.39030	GCC		TCGA-XN-A8T5-01A-12D-A36O-08	HMX3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050842.4	0	0	0	4	81	0	33	0	0	0	1	0	33	2		0	0	0	0	0	2	1	0.883428	4	78	0	33	2		0	0	0	0	33	2	-7.527364	1	0	119904	2	15	1	1	2	3	2.041757	0	0.090000	2.010000	0.105695	0.990000	0.410000	1.000000	1.000000	0.912237	0.990000	1	0.740000	1.000000
ZNF33B	7582	broad.mit.edu	37	10	43090109	43090109	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:43090109C>A	ENST00000359467.3	-	5	403	c.289G>T	c.(289-291)Gaa>Taa	p.E97*	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B			29					GATTGATTTTCTTGGCTCCTC	0.333000													Melanoma(137;1247 1767 16772 25727 43810)											0							SO:0001587	stop_gained			ENST00000359467.3	0	1	hg19	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760951	0.89932	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	.	.	.	2.14	2.14	0.27477	.	0.000000	0.37219	N	0.002190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	10.4164	0.44325	0.0:1.0:0.0:0.0	.	.	.	.	X	97;63	.	ENSP00000352444:E97X	E	-	1	0	ZNF33B	42410115	0.000000	0.05858	0.708000	0.30435	0.654000	0.38779	0.237000	0.17985	1.526000	0.49068	0.416000	0.27883	GAA		TCGA-XN-A8T5-01A-12D-A36O-08	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	0	1	13	417	0	108	1	1.170268e-01	8	10	0	108	2		0	0	0	0	0	2	1	0.999497	13	410	0	106	2		0	0	0	0	108	2	-3.696441	1	0	0	0		1	0	1	1	1.981089	0	0.090000	2.010000	0.079646	0.670000	0.370000	1.000000	1.000000	0.687181	0.670000	0	0.500000	0.860000
BICC1	80114	broad.mit.edu	37	10	60560029	60560029	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr10:60560029C>T	ENST00000373886.3	+	13	1805	c.1801C>T	c.(1801-1803)Ccg>Tcg	p.P601S	BICC1_ENST00000263103.1_Missense_Mutation_p.P227S	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1			44					TCACGGGGATCCGTCCATCCA	0.403000																								0							SO:0001583	missense			ENST00000373886.3	1	1	hg19	CCDS31206.1	.	.	.	.	.	.	.	.	.	.	C	5.695	0.312787	0.10789	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.46451	1.74;0.87	6.02	6.02	0.97574	.	0.159123	0.64402	D	0.000013	T	0.22399	0.0540	N	0.14661	0.345	0.27805	N	0.942355	B;B	0.17852	0.024;0.003	B;B	0.12156	0.007;0.003	T	0.19192	-1.0313	10	0.06891	T	0.86	-15.2366	10.2723	0.43489	0.0:0.6824:0.2487:0.0689	.	521;601	E7EU62;Q9H694	.;BICC1_HUMAN	S	601;227	ENSP00000362993:P601S;ENSP00000263103:P227S	ENSP00000263103:P227S	P	+	1	0	BICC1	60230035	0.935000	0.31712	1.000000	0.80357	0.353000	0.29299	0.429000	0.21412	2.865000	0.98341	0.655000	0.94253	CCG		TCGA-XN-A8T5-01A-12D-A36O-08	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048150.2	1	0	1	10	194	0	39	1	3.461205e-01	5	18	0	39	2		0	0	0	0	0	2	1	0.997098	10	194	0	37	2		0	0	0	0	39	2	-12.675990	1	1	0	0		1	1	2	3	2.041757	0	0.090000	2.010000	0.105695	0.990000	0.610000	1.000000	1.000000	0.950871	0.990000	1	0.870000	1.000000
SLC5A12	159963	broad.mit.edu	37	11	26725427	26725427	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:26725427G>A	ENST00000396005.3	-	5	902	c.593C>T	c.(592-594)aCg>aTg	p.T198M	SLC5A12_ENST00000280467.6_Missense_Mutation_p.T198M	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12			35					AATGAGAACCGTTAAGAAGCC	0.403000																								0							SO:0001583	missense			ENST00000396005.3	0	1	hg19	CCDS7860.2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161956	0.78226	.	.	ENSG00000148942	ENST00000396005;ENST00000280467;ENST00000533617	D;D;D	0.88046	-2.33;-2.33;-2.33	5.16	5.16	0.70880	.	0.058040	0.64402	D	0.000003	D	0.91212	0.7231	L	0.46670	1.46	0.39532	D	0.968674	D;D	0.69078	0.978;0.997	P;D	0.67725	0.707;0.953	D	0.92534	0.6036	10	0.72032	D	0.01	.	18.6369	0.91382	0.0:0.0:1.0:0.0	.	198;198	Q1EHB4-2;Q1EHB4	.;SC5AC_HUMAN	M	198;198;10	ENSP00000379326:T198M;ENSP00000280467:T198M;ENSP00000435053:T10M	ENSP00000280467:T198M	T	-	2	0	SLC5A12	26682003	1.000000	0.71417	0.936000	0.37596	0.978000	0.69477	7.957000	0.87870	2.412000	0.81896	0.484000	0.47621	ACG		TCGA-XN-A8T5-01A-12D-A36O-08	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	0	0	0	9	801	0	183		0	0	0	0	183	2		0	0	0	0	0	2	1	0.994040	8	797	0	182	2		0	0	0	0	183	2	-2.135537	0	1	0	0		1	0	1	1	1.995586	0	0.090000	2.010000	0.082985	0.250000	0.120000	0.440000	0.240000	0.267879	0.250000	0	0.170000	0.350000
OR52W1	120787	broad.mit.edu	37	11	6221254	6221254	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr11:6221254C>A	ENST00000311352.2	+	1	879	c.801C>A	c.(799-801)caC>caA	p.H267Q	RP11-290F24.6_ENST00000600308.1_lincRNA	NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1			11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)			ACCTCACACACCGCTTTGGTC	0.547000																								0							SO:0001583	missense			ENST00000311352.2	0	1	hg19	CCDS31407.1	.	.	.	.	.	.	.	.	.	.	C	8.476	0.858617	0.17178	.	.	ENSG00000175485	ENST00000311352	T	0.00084	8.75	5.11	-5.48	0.02592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39985	N	0.001210	T	0.00073	0.0002	L	0.35249	1.045	0.21220	N	0.99975	B	0.29612	0.251	B	0.27076	0.076	T	0.47156	-0.9139	10	0.66056	D	0.02	.	5.0242	0.14376	0.0925:0.3018:0.0912:0.5146	.	267	Q6IF63	O52W1_HUMAN	Q	267	ENSP00000309673:H267Q	ENSP00000309673:H267Q	H	+	3	2	OR52W1	6177830	0.001000	0.12720	0.795000	0.32087	0.080000	0.17528	-0.139000	0.10358	-0.942000	0.03695	-1.012000	0.02466	CAC		TCGA-XN-A8T5-01A-12D-A36O-08	OR52W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383758.1	0	0	0	10	1438	1	363		0	0	0	1	363	2		0	0	0	0	0	2	0	0.197161	9	1412	1	361	15		0	0	0	1	363	2	-5.255268	1	0	0	0		1	0	1	1	1.995586	0	0.090000	2.010000	0.082985	0.150000	0.070000	0.270000	0.150000	0.166018	0.150000	0	0.110000	0.210000
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	5144	Substitution - Missense(5142)|Insertion - In frame(2)	GRCh37	CM076251	KRAS	M	rs121913530	SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-XN-A8T5-01A-12D-A36O-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	13	316	0	75	1	7.858898e-02	2	9	0	75	2	1	9.992947e-01	9	298	0	360	2	1	0.999512	13	311	0	74	2	1	1	575	7447	0	75	2	-4.124952	1	1	0	0		1	1	2	3	2.001156	0	0.090000	2.010000	0.096909	0.940000	0.510000	1.000000	1.000000	0.876443	0.940000	1	0.690000	1.000000
ARHGAP9	64333	broad.mit.edu	37	12	57871243	57871243	+	Splice_Site	SNP	G	G	A	rs147287939		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr12:57871243G>A	ENST00000356411.2	-	4	893	c.755C>T	c.(754-756)aCg>aTg	p.T252M	ARHGAP9_ENST00000550288.1_Splice_Site_p.T331M|ARHGAP9_ENST00000430041.2_Splice_Site_p.T68M|ARHGAP9_ENST00000393791.3_Splice_Site_p.T252M|ARHGAP9_ENST00000550454.1_5'UTR|ARHGAP9_ENST00000393797.2_Splice_Site_p.T323M|ARHGAP9_ENST00000424809.2_Splice_Site_p.T252M			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9			30			GBM - Glioblastoma multiforme(3;3.37e-34)		AGGTCTCACCGTCTCGCTGCG	0.577000																								0							SO:0001630	splice_region_variant			ENST00000356411.2	1	0	hg19		.	.	.	.	.	.	.	.	.	.	G	7.299	0.612678	0.14066	2.27E-4	2.33E-4	ENSG00000123329	ENST00000393791;ENST00000356411;ENST00000424809;ENST00000393797;ENST00000340423;ENST00000430041;ENST00000548139;ENST00000552604;ENST00000551452;ENST00000552066	T;T;T;T;T;T	0.48522	3.05;3.05;1.69;3.04;2.95;0.81	3.29	-2.65	0.06095	.	1.008660	0.07975	N	0.984731	T	0.28167	0.0695	N	0.25647	0.755	0.09310	N	1	B;B;B;B;B;B	0.25955	0.138;0.016;0.001;0.005;0.008;0.004	B;B;B;B;B;B	0.11329	0.004;0.004;0.001;0.006;0.002;0.003	T	0.11446	-1.0587	10	0.33940	T	0.23	.	5.1466	0.14989	0.4042:0.0:0.4589:0.1369	.	252;331;252;252;252;68	B4E248;Q6ZN13;Q9BRR9;Q9BRR9-2;E9PDX9;B4DVI3	.;.;RHG09_HUMAN;.;.;.	M	252;252;252;323;301;68;68;68;105;68	ENSP00000377380:T252M;ENSP00000348782:T252M;ENSP00000394307:T252M;ENSP00000377386:T323M;ENSP00000397950:T68M;ENSP00000449829:T68M	ENSP00000344852:T301M	T	-	2	0	ARHGAP9	56157510	0.001000	0.12720	0.013000	0.15412	0.024000	0.10985	-0.850000	0.04317	-0.995000	0.03459	-0.797000	0.03246	ACG		TCGA-XN-A8T5-01A-12D-A36O-08	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		1	0	0	17	315	0	70	0	7.806584e-01	0	55	0	70	2		0	0	0	0	0	2	1	0.604906	17	306	1	70	16		0	0	0	0	70	2	-5.210444	1	1	121412	24	47	1	1	2	3	2.001156	0	0.090000	2.010000	0.096909	0.990000	0.710000	1.000000	1.000000	0.967702	0.990000	1	0.920000	1.000000
GPC5	2262	broad.mit.edu	37	13	92101122	92101122	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr13:92101122A>G	ENST00000377067.3	+	2	643	c.271A>G	c.(271-273)Acg>Gcg	p.T91A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5			69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)			GTTTCTTCAAACGTCCAGCTC	0.438000																								0							SO:0001583	missense			ENST00000377067.3	1	1	hg19	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	A	8.274	0.814030	0.16537	.	.	ENSG00000179399	ENST00000377067	T	0.47528	0.84	5.5	0.224	0.15297	.	0.228421	0.44483	N	0.000455	T	0.31389	0.0795	L	0.42245	1.32	0.30752	N	0.745058	B	0.28470	0.213	B	0.28139	0.086	T	0.18304	-1.0341	10	0.22109	T	0.4	.	4.9471	0.13994	0.663:0.0:0.2116:0.1254	.	91	P78333	GPC5_HUMAN	A	91	ENSP00000366267:T91A	ENSP00000366267:T91A	T	+	1	0	GPC5	90899123	0.881000	0.30235	0.790000	0.31976	0.231000	0.25187	0.600000	0.24104	-0.165000	0.10908	0.383000	0.25322	ACG		TCGA-XN-A8T5-01A-12D-A36O-08	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	1	0	0	21	400	0	111	0	2.807991e-03	0	2	0	111	2		0	0	0	0	0	2	1	0.999997	21	394	0	110	2		0	0	0	0	111	2	-19.998340	1	1	0	0		1	0	1	1	1.996288	0	0.090000	2.010000	0.082985	0.990000	0.700000	1.000000	1.000000	0.957879	0.990000	1	0.880000	1.000000
FANCA	2175	broad.mit.edu	37	16	89858476	89858476	+	Splice_Site	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr16:89858476G>T	ENST00000389301.3	-	13	1114	c.1084C>A	c.(1084-1086)Ctc>Atc	p.L362I	FANCA_ENST00000568369.1_Splice_Site_p.L362I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A			47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)			ATCACAAAGAGCTGAAATAAA	0.542000			D, Mis, N, F, S			AML, leukemia		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					yes	Rec		Fanconi anaemia A	16	16q24.3	2175	Fanconi anemia, complementation group A		L	0							SO:0001630	splice_region_variant	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ENST00000389301.3	0	1	hg19	CCDS32515.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808175	0.50421	.	.	ENSG00000187741	ENST00000389301	T	0.67523	-0.27	5.64	3.65	0.41850	.	0.456880	0.18430	N	0.141443	T	0.60958	0.2309	M	0.71581	2.175	0.80722	D	1	P;P	0.38788	0.647;0.639	B;B	0.30943	0.091;0.122	T	0.60347	-0.7281	10	0.44086	T	0.13	-13.4105	11.8401	0.52348	0.0:0.1373:0.7281:0.1346	.	362;362	B4DRI7;O15360	.;FANCA_HUMAN	I	362	ENSP00000373952:L362I	ENSP00000373952:L362I	L	-	1	0	FANCA	88385977	1.000000	0.71417	0.996000	0.52242	0.308000	0.27856	3.211000	0.51137	0.725000	0.32318	-0.139000	0.14373	CTC		TCGA-XN-A8T5-01A-12D-A36O-08	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1	0	0	0	5	281	0	77	0	5.046136e-04	0	2	0	77	2		0	0	0	0	0	2	1	0.933932	3	276	0	76	2		0	0	0	0	77	2	-5.800718	1	0	0	0		1	1	2	3	2.048961	0	0.090000	2.010000	0.107274	0.500000	0.170000	1.000000	0.390000	0.586210	0.500000	0	0.290000	1.000000
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F	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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	ATGGCGCGGACGCGGGTGCCG	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	231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)						SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		TCGA-XN-A8T5-01A-12D-A36O-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	0	7	282	0	100	1	4.670161e-01	13	46	0	100	2	1	9.999880e-01	63	1166	0	1431	2	1	0.978936	6	275	0	99	2		0	0	0	0	100	2	-7.786348	1	0	0	0		1	0	0	0	1.958755	0	0.090000	2.010000	0.064748	0.530000	0.240000	0.960000	1.000000	0.561892	0.530000	0	0.360000	0.750000
GUCY2D	3000	broad.mit.edu	37	17	7915536	7915536	+	Silent	SNP	G	G	A	rs63749078		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr17:7915536G>A	ENST00000254854.4	+	9	1974	c.1824G>A	c.(1822-1824)gcG>gcA	p.A608A		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)			1		Prostate(122;0.157)			AAGGCCCTGCGGCCCTCTGGG	0.617000																								0							SO:0001819	synonymous_variant			ENST00000254854.4	1	1	hg19	CCDS11127.1																																																																																				TCGA-XN-A8T5-01A-12D-A36O-08	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2	0	0	0	8	230	0	56		0	0	0	0	56	2		0	0	0	0	0	2	1	0.988978	8	227	0	55	2		0	0	0	0	56	2	-3.371616	1	1	121412	4	37	1	0	0	0	1.958755	0	0.090000	2.010000	0.064748	0.720000	0.340000	1.000000	1.000000	0.732368	0.720000	0	0.510000	0.980000
ZNF554	115196	broad.mit.edu	37	19	2834450	2834450	+	Missense_Mutation	SNP	A	A	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:2834450A>G	ENST00000317243.5	+	5	1415	c.1217A>G	c.(1216-1218)aAg>aGg	p.K406R		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554			23		Hepatocellular(1079;0.137)			ACCGGGGAAAAGCCCTATAAA	0.522000																								0							SO:0001583	missense			ENST00000317243.5	0	1	hg19	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	A	16.85	3.236253	0.58886	.	.	ENSG00000172006	ENST00000317243	T	0.24908	1.83	2.76	2.76	0.32466	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37376	0.1001	L	0.39514	1.22	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10109	-1.0644	9	0.54805	T	0.06	.	8.9895	0.36014	1.0:0.0:0.0:0.0	.	406	Q86TJ5	ZN554_HUMAN	R	406	ENSP00000321132:K406R	ENSP00000321132:K406R	K	+	2	0	ZNF554	2785450	0.475000	0.25894	0.998000	0.56505	0.649000	0.38597	0.045000	0.14013	1.280000	0.44463	0.467000	0.42956	AAG		TCGA-XN-A8T5-01A-12D-A36O-08	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	0	0	0	4	268	0	69	0	3.783801e-03	0	5	0	69	2		0	0	0	0	0	2	1	0.890196	4	267	0	68	2		0	0	0	0	69	2	-5.110003	1	0	0	0		1	1	2	3	2.006785	0	0.090000	2.010000	0.098117	0.400000	0.120000	1.000000	0.310000	0.486694	0.400000	0	0.230000	0.910000
PLEKHG2	64857	broad.mit.edu	37	19	39907611	39907611	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:39907611C>T	ENST00000409794.3	+	7	1565	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.R239C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000425673.1_Missense_Mutation_p.R239C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.R180C	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2			40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		ACCTGTCCAGCGCATTCTCAA	0.647000																								0							SO:0001583	missense			ENST00000409794.3	0	1	hg19	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230956	0.79688	.	.	ENSG00000090924	ENST00000409794;ENST00000425673;ENST00000378550;ENST00000458508;ENST00000409797	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	4.8	4.8	0.61643	Dbl homology (DH) domain (5);	0.000000	0.64402	D	0.000003	D	0.96426	0.8834	H	0.98996	4.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.981;0.91;0.994;0.997	D	0.97972	1.0344	10	0.87932	D	0	.	17.1606	0.86802	0.0:1.0:0.0:0.0	.	239;239;180;239	Q9H7P9-3;Q9H7P9;E7ESZ3;Q9H7P9-2	.;PKHG2_HUMAN;.;.	C	239;239;239;180;239	ENSP00000386733:R239C;ENSP00000392906:R239C;ENSP00000367812:R239C;ENSP00000408857:R180C;ENSP00000386492:R239C	ENSP00000367812:R239C	R	+	1	0	PLEKHG2	44599451	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	1.587000	0.36622	2.670000	0.90874	0.407000	0.27541	CGC		TCGA-XN-A8T5-01A-12D-A36O-08	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	0	0	0	7	288	0	68	0	1.682233e-01	1	26	0	68	2		0	0	0	0	0	2	1	0.979985	8	283	0	68	2		0	0	0	0	68	2	-7.534188	1	0	0	0		1	1	2	3	2.006785	0	0.090000	2.010000	0.098117	0.600000	0.250000	1.000000	1.000000	0.644560	0.600000	0	0.390000	1.000000
ZNF614	80110	broad.mit.edu	37	19	52520103	52520103	+	Silent	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:52520103G>A	ENST00000270649.6	-	5	1292	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614			24		all_neural(266;0.0505)			TTAGTTTTCAGATGCTTAGTG	0.368000																								0							SO:0001819	synonymous_variant			ENST00000270649.6	1	1	hg19	CCDS12847.1																																																																																				TCGA-XN-A8T5-01A-12D-A36O-08	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	0	0	0	15	555	0	130	0	1.564190e-02	0	7	0	130	2		0	0	0	0	0	2	1	0.999865	15	550	0	129	2		0	0	0	0	130	2	-3.122460	1	1	0	0		1	1	2	3	2.008746	0	0.090000	2.010000	0.098519	0.630000	0.350000	1.000000	0.580000	0.676864	0.630000	0	0.470000	1.000000
MUC16	94025	broad.mit.edu	37	19	9005718	9005718	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr19:9005718C>T	ENST00000397910.4	-	46	39891	c.39688G>A	c.(39688-39690)Gga>Aga	p.G13230R	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated			590					GTGGCTACTCCATCCTTCTCA	0.562000																								0							SO:0001583	missense			ENST00000397910.4	1	1	hg19	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.57|11.57	1.678764|1.678764	0.29783|0.29783	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000441155|ENST00000542240	T|.	0.46451|.	0.87|.	3.51|3.51	2.45|2.45	0.29901|0.29901	SEA (1);|.	0.000000|.	0.31472|.	U|.	0.007590|.	T|T	0.55940|0.55940	0.1952|0.1952	M|M	0.68593|0.68593	2.085|2.085	.|.	.|.	.|.	D;D|.	0.76494|.	0.971;0.999|.	P;D|.	0.83275|.	0.625;0.996|.	T|T	0.63148|0.63148	-0.6702|-0.6702	9|4	0.87932|.	D|.	0|.	-11.7182|-11.7182	7.3243|7.3243	0.26547|0.26547	0.0:0.8661:0.0:0.1339|0.0:0.8661:0.0:0.1339	.|.	20875;13230|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	R|I	13230;361|69	ENSP00000381008:G13230R|.	ENSP00000381008:G13230R|.	G|M	-|-	1|3	0|0	MUC16|MUC16	8866718|8866718	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.002000|0.002000	0.02628|0.02628	0.611000|0.611000	0.24268|0.24268	0.742000|0.742000	0.32697|0.32697	0.455000|0.455000	0.32223|0.32223	GGA|ATG		TCGA-XN-A8T5-01A-12D-A36O-08	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	1	0	0	10	196	0	48	1	6.639808e-02	4	4	0	48	2		0	0	0	0	0	2	1	0.996447	9	189	0	48	2		0	0	0	0	48	2	-3.097668	1	1	0	0		1	1	2	3	2.006785	0	0.090000	2.010000	0.098117	0.990000	0.580000	1.000000	1.000000	0.940583	0.990000	1	0.830000	1.000000
ANKRD35	148741	broad.mit.edu	37	1	145567068	145567068	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:145567068C>T	ENST00000355594.4	+	12	3003	c.2916C>T	c.(2914-2916)taC>taT	p.Y972Y		NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35			47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)				TCTCCACCTACAGGAATCATC	0.478000													Melanoma(9;127 754 22988 51047)											0							SO:0001819	synonymous_variant			ENST00000355594.4	1	1	hg19	CCDS919.1																																																																																				TCGA-XN-A8T5-01A-12D-A36O-08	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1	1	0	0	23	438	0	142	0	2.780968e-01	0	19	0	142	2		0	0	0	0	0	2	1	0.999999	23	434	0	141	2		0	0	0	0	142	2	-5.049620	1	1	0	0		1	0	1	1	1.995454	0	0.090000	2.010000	0.082985	0.990000	0.710000	1.000000	1.000000	0.960821	0.990000	1	0.890000	1.000000
CD1D	912	broad.mit.edu	37	1	158152716	158152716	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:158152716G>A	ENST00000368171.3	+	5	1155	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule			30	all_hematologic(112;0.0378)				GGCCCTGGCCGTCTGCTGCTG	0.592000																								0							SO:0001583	missense			ENST00000368171.3	1	1	hg19	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.606585	0.28623	.	.	ENSG00000158473	ENST00000368171	T	0.13901	2.55	5.18	-0.738	0.11125	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (1);	0.528179	0.17322	N	0.178449	T	0.01592	0.0051	N	0.13043	0.29	0.26068	N	0.981252	B	0.21688	0.059	B	0.14578	0.011	T	0.46527	-0.9185	10	0.19147	T	0.46	-1.3462	4.2679	0.10771	0.4919:0.1772:0.3308:0.0	.	219	P15813	CD1D_HUMAN	H	219	ENSP00000357153:R219H	ENSP00000357153:R219H	R	+	2	0	CD1D	156419340	0.000000	0.05858	0.998000	0.56505	0.830000	0.47004	-1.412000	0.02476	0.204000	0.20548	-0.751000	0.03497	CGT		TCGA-XN-A8T5-01A-12D-A36O-08	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	0	0	0	29	475	0	125	0	2.445600e-01	0	16	0	125	2		0	0	0	0	0	2	1	1.000000	29	472	0	122	2		0	0	0	0	125	2	-6.214394	1	1	121412	10	42	1	0	1	1	1.995454	0	0.090000	2.010000	0.082985	0.990000	0.860000	1.000000	1.000000	0.991173	0.990000	1	0.990000	1.000000
ETNK2	55224	broad.mit.edu	37	1	204115868	204115868	+	Missense_Mutation	SNP	C	C	G			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:204115868C>G	ENST00000367202.4	-	3	693	c.543G>C	c.(541-543)aaG>aaC	p.K181N	ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367198.2_Missense_Mutation_p.K3N|ETNK2_ENST00000367201.3_Missense_Mutation_p.K181N	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2			7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		TAGTATGAATCTTTGCCATTT	0.507000																								0							SO:0001583	missense			ENST00000367202.4	0	1	hg19	CCDS1442.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434087	0.62955	.	.	ENSG00000143845	ENST00000367201;ENST00000367202;ENST00000455266;ENST00000367198;ENST00000422699;ENST00000452983	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.34	3.33	0.38152	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.225367	0.44902	D	0.000408	T	0.68238	0.2979	M	0.79926	2.475	0.36731	D	0.881739	P;D	0.56035	0.792;0.974	P;P	0.56343	0.542;0.796	T	0.75184	-0.3407	10	0.54805	T	0.06	-18.004	8.4404	0.32812	0.0:0.7574:0.0:0.2426	.	181;181	Q9NVF9;Q9NVF9-2	EKI2_HUMAN;.	N	181;181;47;3;47;38	ENSP00000356169:K181N;ENSP00000356170:K181N;ENSP00000356166:K3N;ENSP00000405497:K47N;ENSP00000398091:K38N	ENSP00000356166:K3N	K	-	3	2	ETNK2	202382491	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.667000	0.25112	1.489000	0.48450	0.655000	0.94253	AAG		TCGA-XN-A8T5-01A-12D-A36O-08	ETNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087893.1	0	0	0	5	202	0	54	0	8.866553e-03	0	5	0	54	2		0	0	0	0	0	2	1	0.936704	5	200	0	54	2		0	0	0	0	54	2	-6.824276	1	0	0	0		1	0	1	1	1.995454	0	0.090000	2.010000	0.082985	0.560000	0.210000	1.000000	1.000000	0.589995	0.560000	0	0.360000	0.820000
OR2W5	441932	broad.mit.edu	37	1	247655131	247655131	+	RNA	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr1:247655131G>A	ENST00000522351.1	+	0	762							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5			39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		GCAGCAGGGCGAAAGAAAGCC	0.587000																								0											ENST00000522351.1	1	1	hg19																																																																																					TCGA-XN-A8T5-01A-12D-A36O-08	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	0	0	0	21	498	0	127		0	0	0	0	127	2		0	0	0	0	0	2	1	0.999997	21	496	0	127	2		0	0	0	0	127	2	-3.199595	1	1	121412	1	35	1	0	1	1	1.995454	0	0.090000	2.010000	0.082985	0.890000	0.570000	1.000000	1.000000	0.870304	0.890000	1	0.710000	1.000000
RALGAPA2	57186	broad.mit.edu	37	20	20493737	20493737	+	Missense_Mutation	SNP	G	G	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr20:20493737G>C	ENST00000202677.7	-	32	4283	c.4276C>G	c.(4276-4278)Ctg>Gtg	p.L1426V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)			54					AACAGCTGCAGGTTTGGACTT	0.537000																								0							SO:0001583	missense			ENST00000202677.7	0	1	hg19	CCDS46584.1	.	.	.	.	.	.	.	.	.	.	G	9.998	1.232569	0.22626	.	.	ENSG00000188559	ENST00000202677	D	0.95518	-3.73	5.62	1.44	0.22558	.	0.000000	0.64402	D	0.000003	D	0.95831	0.8643	L	0.57536	1.79	0.39079	D	0.960872	B;D;B	0.76494	0.119;0.999;0.34	B;D;B	0.87578	0.074;0.998;0.241	D	0.93616	0.6943	9	.	.	.	.	6.8563	0.24042	0.2006:0.0:0.6743:0.1251	.	1264;1426;1426	A8MSM5;Q2PPJ7-2;Q2PPJ7	.;.;RGPA2_HUMAN	V	1426	ENSP00000202677:L1426V	.	L	-	1	2	RALGAPA2	20441737	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.455000	0.35190	0.394000	0.25230	0.591000	0.81541	CTG		TCGA-XN-A8T5-01A-12D-A36O-08	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471941.1	0	0	0	6	171	0	42	1	6.019338e-02	4	6	0	42	2		0	0	0	0	0	2	1	0.963252	6	167	0	40	2		0	0	0	0	42	2	-8.432201	1	0	0	0		1	0	1	1	1.980871	0	0.090000	2.010000	0.079227	0.760000	0.320000	1.000000	1.000000	0.752628	0.760000	0	0.500000	1.000000
ZBED4	9889	broad.mit.edu	37	22	50278645	50278645	+	Silent	SNP	C	C	T	rs141708563		TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50278645C>T	ENST00000216268.5	+	2	1812	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4			44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)			AATCTGGCGCCATCTTCCAGC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000216268.5	1	1	hg19	CCDS33677.1																																																																																				TCGA-XN-A8T5-01A-12D-A36O-08	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	1	0	1	46	417	0	112	0	1.174264e-01	1	5	0	112	2		0	0	0	0	0	2	1	1.000000	46	412	0	112	2		0	0	0	0	112	2	-3.142702	1	1	121412	12	44	1	1	2	3	2.045362	1	0.090000	2.010000	0.129187	0.990000	0.990000	1.000000	1.000000	1.000000	0.990000	1	0.990000	1.000000
PLXNB2	23654	broad.mit.edu	37	22	50720348	50720348	+	Missense_Mutation	SNP	C	C	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr22:50720348C>A	ENST00000449103.1	-	20	3420	c.3280G>T	c.(3280-3282)Gac>Tac	p.D1094Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D1094Y|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2			66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)			AAGGTGGGGTCAGGCACGTAC	0.637000																								0							SO:0001583	missense			ENST00000449103.1	1	1	hg19	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508777	0.44660	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	T;T	0.63744	-0.06;-0.06	4.63	4.63	0.57726	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.257954	0.27554	N	0.018860	T	0.77579	0.4151	M	0.72353	2.195	0.58432	D	0.999993	D	0.76494	0.999	D	0.65443	0.935	T	0.80991	-0.1135	10	0.87932	D	0	.	17.6605	0.88192	0.0:1.0:0.0:0.0	.	1094	O15031	PLXB2_HUMAN	Y	1094	ENSP00000409171:D1094Y;ENSP00000352288:D1094Y	ENSP00000352288:D1094Y	D	-	1	0	PLXNB2	49062475	0.989000	0.36119	0.992000	0.48379	0.767000	0.43475	2.830000	0.48136	2.410000	0.81850	0.313000	0.20887	GAC		TCGA-XN-A8T5-01A-12D-A36O-08	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	1	0	1	13	238	0	66	1	9.946422e-01	83	79	0	66	2	1	9.892075e-01	9	132	0	181	2	1	0.999512	13	233	0	64	2		0	0	0	0	66	2	-15.533900	1	1	0	0		1	1	2	3	2.029719	0	0.090000	2.010000	0.106090	0.990000	0.690000	1.000000	1.000000	0.968855	0.990000	1	0.940000	1.000000
ARHGAP15	55843	broad.mit.edu	37	2	144525606	144525606	+	Silent	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:144525606G>T	ENST00000295095.6	+	14	1460	c.1293G>T	c.(1291-1293)ggG>ggT	p.G431G	CTD-2252P21.1_ENST00000548756.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15			34					AAAGCTTGGGGATTGTATTTG	0.453000																								0							SO:0001819	synonymous_variant			ENST00000295095.6	1	1	hg19	CCDS2184.1																																																																																				TCGA-XN-A8T5-01A-12D-A36O-08	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	0	0	0	20	549	0	141	0	9.705079e-01	0	160	0	141	2		0	0	0	0	0	2	1	0.999995	20	545	0	141	2		0	0	0	0	141	2	-3.623381	1	1	0	0		1	1	2	3	2.039555	0	0.090000	2.010000	0.105299	0.860000	0.520000	1.000000	1.000000	0.847564	0.860000	1	0.660000	1.000000
ZSWIM2	151112	broad.mit.edu	37	2	187702250	187702250	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr2:187702250A>T	ENST00000295131.2	-	5	565	c.526T>A	c.(526-528)Tgc>Agc	p.C176S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2			52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)		ATCTTCATGCATTTTATATGA	0.318000																								0							SO:0001583	missense			ENST00000295131.2	1	1	hg19	CCDS33348.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228314	0.79576	.	.	ENSG00000163012	ENST00000295131	D	0.99701	-6.45	5.97	5.97	0.96955	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000014	D	0.99729	0.9894	M	0.90542	3.125	0.51233	D	0.999915	D	0.89917	1.0	D	0.85130	0.997	D	0.97371	0.9976	10	0.87932	D	0	-6.639	13.9615	0.64182	1.0:0.0:0.0:0.0	.	176	Q8NEG5	ZSWM2_HUMAN	S	176	ENSP00000295131:C176S	ENSP00000295131:C176S	C	-	1	0	ZSWIM2	187410495	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	6.756000	0.74919	2.287000	0.76781	0.482000	0.46254	TGC		TCGA-XN-A8T5-01A-12D-A36O-08	ZSWIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334565.1	0	0	0	9	278	0	59		0	0	0	0	59	2		0	0	0	0	0	2	1	0.993950	9	273	0	56	2		0	0	0	0	59	2	-10.211660	1	1	0	0		1	1	2	3	2.039555	0	0.090000	2.010000	0.105299	0.820000	0.380000	1.000000	1.000000	0.795797	0.820000	0	0.550000	1.000000
RNF13	11342	broad.mit.edu	37	3	149570341	149570341	+	Silent	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:149570341C>T	ENST00000344229.3	+	4	855	c.153C>T	c.(151-153)ctC>ctT	p.L51L	ANKUB1_ENST00000473672.1_5'Flank|RNF13_ENST00000392894.3_Silent_p.L51L	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13			11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		TTGATGACCTCCCTGCAAGAT	0.274000																								0							SO:0001819	synonymous_variant			ENST00000344229.3	1	1	hg19	CCDS3146.1																																																																																				TCGA-XN-A8T5-01A-12D-A36O-08	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	1	0	1	13	205	0	39	1	9.220506e-01	19	53	0	39	2		0	0	0	0	0	2	1	0.999542	13	202	0	39	2		0	0	0	0	39	2	-5.307373	1	1	0	0		1	0	1	1	1.998857	0	0.090000	2.010000	0.075015	0.990000	0.710000	1.000000	1.000000	0.971194	0.990000	1	0.940000	1.000000
ITPR1	3708	broad.mit.edu	37	3	4744532	4744532	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:4744532G>T	ENST00000443694.2	+	33	4510	c.4510G>T	c.(4510-4512)Gtg>Ttg	p.V1504L	ITPR1_ENST00000354582.6_Missense_Mutation_p.V1519L|ITPR1_ENST00000357086.4_Missense_Mutation_p.V1510L|ITPR1_ENST00000423119.2_Missense_Mutation_p.V1510L|ITPR1_ENST00000456211.2_Missense_Mutation_p.V1495L|ITPR1_ENST00000302640.8_Missense_Mutation_p.V1504L|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1			106				Caffeine(DB00201)	GCCTGTCTTTGTGCAACTGCT	0.473000																								0							SO:0001583	missense			ENST00000443694.2	1	1	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429619	0.83776	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5;-0.5;-0.5	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.74405	0.3712	M	0.85542	2.76	0.80722	D	1	B;P	0.35700	0.193;0.516	B;B	0.34652	0.126;0.187	T	0.75408	-0.3328	10	0.28530	T	0.3	.	18.3935	0.90491	0.0:0.0:1.0:0.0	.	1519;1510	Q14643;G5E9P1	ITPR1_HUMAN;.	L	1519;1504;1519;1510;1510;1495;1504	ENSP00000306253:V1504L;ENSP00000346595:V1519L;ENSP00000405934:V1510L;ENSP00000349597:V1510L;ENSP00000397885:V1495L;ENSP00000401671:V1504L	ENSP00000306253:V1504L	V	+	1	0	ITPR1	4719532	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.768000	0.98965	2.320000	0.78422	0.563000	0.77884	GTG		TCGA-XN-A8T5-01A-12D-A36O-08	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	1	0	0	7	134	0	41	0	7.439534e-02	0	8	0	41	2		0	0	0	0	0	2	1	0.980983	7	133	0	41	2		0	0	0	0	41	2	-10.317830	1	1	0	0		1	0	0	0	1.952113	0	0.090000	2.010000	0.061275	0.930000	0.450000	1.000000	1.000000	0.867575	0.930000	1	0.670000	1.000000
NCKIPSD	51517	broad.mit.edu	37	3	48716527	48716527	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr3:48716527A>T	ENST00000294129.2	-	10	1779	c.1660T>A	c.(1660-1662)Tgc>Agc	p.C554S	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.C547S|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.C554S	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain			11					AGGTTCACGCAGAGGTCCGGC	0.652000																								0							SO:0001583	missense			ENST00000294129.2	1	1	hg19	CCDS2776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.504546|4.504546	0.85176|0.85176	.|.	.|.	ENSG00000213672|ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374|ENST00000415281	T;T;T;T|T	0.65549|0.58797	1.04;-0.16;-0.16;1.04|0.31	5.37|5.37	5.37|5.37	0.77165|0.77165	Domain of unknown function DUF2013 (1);|.	0.062767|.	0.64402|.	U|.	0.000005|.	T|T	0.58452|0.58452	0.2123|0.2123	L|L	0.29908|0.29908	0.895|0.895	0.37845|0.37845	D|D	0.929171|0.929171	P;P|.	0.52316|.	0.952;0.94|.	P;P|.	0.50270|.	0.636;0.503|.	T|T	0.67007|0.67007	-0.5779|-0.5779	10|7	0.44086|0.87932	T|D	0.13|0	.|.	15.3635|15.3635	0.74499|0.74499	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	554;547|.	Q9NZQ3;Q9NZQ3-3|.	SPN90_HUMAN;.|.	S|Q	554;547;554;10|262	ENSP00000342621:C554S;ENSP00000389059:C547S;ENSP00000294129:C554S;ENSP00000396683:C10S|ENSP00000406442:L262Q	ENSP00000294129:C554S|ENSP00000406442:L262Q	C|L	-|-	1|2	0|0	NCKIPSD|NCKIPSD	48691531|48691531	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.952000|0.952000	0.60782|0.60782	8.804000|8.804000	0.91921|0.91921	2.020000|2.020000	0.59435|0.59435	0.528000|0.528000	0.53228|0.53228	TGC|CTG		TCGA-XN-A8T5-01A-12D-A36O-08	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	1	0	0	11	198	0	64	1	5.792641e-01	4	31	0	64	2		0	0	0	0	0	2	1	0.998246	9	195	0	63	2		0	0	0	0	64	2	-14.130940	1	1	0	0		1	0	0	0	1.952113	0	0.090000	2.010000	0.061275	0.990000	0.570000	1.000000	1.000000	0.916130	0.990000	1	0.770000	1.000000
ANK2	287	broad.mit.edu	37	4	114203916	114203916	+	Missense_Mutation	SNP	A	A	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr4:114203916A>T	ENST00000357077.4	+	18	2020	c.1967A>T	c.(1966-1968)aAc>aTc	p.N656I	ANK2_ENST00000264366.6_Missense_Mutation_p.N656I|ANK2_ENST00000394537.3_Missense_Mutation_p.N656I|ANK2_ENST00000506722.1_Missense_Mutation_p.N635I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal			248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)			GCAGAGACAAACATTGTGACA	0.448000																								0							SO:0001583	missense			ENST00000357077.4	0	1	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654034	0.88056	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.71461	-0.57;2.06;-0.57;-0.57;-0.57;-0.57;-0.57	5.13	5.13	0.70059	Ankyrin repeat-containing domain (3);	0.099795	0.43579	D	0.000555	D	0.85435	0.5696	M	0.87682	2.9	0.80722	D	1	D;D;D;D;P	0.76494	0.996;0.999;0.995;0.989;0.857	D;D;D;D;P	0.69824	0.964;0.966;0.939;0.917;0.66	D	0.88380	0.3001	10	0.87932	D	0	.	15.2245	0.73339	1.0:0.0:0.0:0.0	.	656;656;656;635;635	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	I	635;602;635;671;656;656;656;635	ENSP00000423799:N635I;ENSP00000421011:N602I;ENSP00000421067:N635I;ENSP00000424722:N671I;ENSP00000378044:N656I;ENSP00000349588:N656I;ENSP00000264366:N656I	ENSP00000264366:N656I	N	+	2	0	ANK2	114423365	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	7.405000	0.80007	2.031000	0.59945	0.533000	0.62120	AAC		TCGA-XN-A8T5-01A-12D-A36O-08	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	0	0	0	7	203	0	51	0	3.705515e-02	0	8	0	51	2		0	0	0	0	0	2	1	0.980475	6	202	0	50	2		0	0	0	0	51	2	-9.293501	1	0	0	0		1	0	1	1	1.990221	0	0.090000	2.010000	0.081736	0.740000	0.340000	1.000000	1.000000	0.748133	0.740000	0	0.510000	1.000000
PANK3	79646	broad.mit.edu	37	5	167995848	167995848	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:167995848C>T	ENST00000239231.6	-	2	500	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	PANK3_ENST00000520504.1_5'Flank	NM_024594.3	NP_078870.1	Q9H999	PANK3_HUMAN	pantothenate kinase 3			16	Renal(175;0.000159)|Lung NSC(126;0.0441)|all_lung(126;0.0909)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		TCCCGAATGCCGGTGGATCCA	0.418000																								0							SO:0001583	missense			ENST00000239231.6	1	1	hg19	CCDS4368.1	.	.	.	.	.	.	.	.	.	.	C	33	5.205975	0.95033	.	.	ENSG00000120137	ENST00000239231;ENST00000522176	D;D	0.98419	-4.92;-4.92	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99271	1.0893	10	0.46703	T	0.11	-14.8448	19.0666	0.93114	0.0:1.0:0.0:0.0	.	62	Q9H999	PANK3_HUMAN	S	62;47	ENSP00000239231:G62S;ENSP00000428631:G47S	ENSP00000239231:G62S	G	-	1	0	PANK3	167928426	1.000000	0.71417	1.000000	0.80357	0.845000	0.48019	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	GGC		TCGA-XN-A8T5-01A-12D-A36O-08	PANK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252793.2	0	0	1	33	620	1	155	1	2.786271e-01	7	13	1	155	2		0	0	0	0	0	2	1	0.997082	32	609	1	153	15		0	0	0	1	155	2	-3.015555	1	1	0	0		1	1	2	3	2.002054	0	0.090000	2.010000	0.096909	0.990000	0.800000	1.000000	1.000000	0.980923	0.990000	1	0.960000	1.000000
RPL26L1	51121	broad.mit.edu	37	5	172386920	172386920	+	Missense_Mutation	SNP	G	G	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:172386920G>T	ENST00000521476.1	+	2	168	c.44G>T	c.(43-45)cGc>cTc	p.R15L	RPL26L1_ENST00000519239.1_Missense_Mutation_p.R15L|CTC-308K20.1_ENST00000520067.1_RNA|CTC-308K20.1_ENST00000518894.1_RNA|CTC-308K20.1_ENST00000518818.1_RNA|RPL26L1_ENST00000519974.1_Missense_Mutation_p.R15L|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R15L|CTC-308K20.2_ENST00000519755.1_lincRNA			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1			7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		AGTAAAAACCGCAAACGTCAC	0.562000																								0							SO:0001583	missense			ENST00000521476.1	0	1	hg19	CCDS4382.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634145	0.96682	.	.	ENSG00000037241	ENST00000519974;ENST00000521476;ENST00000265100;ENST00000519239;ENST00000519522;ENST00000519156	.	.	.	4.75	3.85	0.44370	Translation protein SH3-like (1);Ribosomal protein L24, SH3-like (1);	0.000000	0.85682	D	0.000000	D	0.84106	0.5399	H	0.94462	3.54	0.80722	D	1	P	0.48694	0.914	P	0.58721	0.844	D	0.88380	0.3001	9	0.87932	D	0	.	13.8993	0.63792	0.0:0.0:0.8418:0.1582	.	15	Q9UNX3	RL26L_HUMAN	L	15	.	ENSP00000265100:R15L	R	+	2	0	RPL26L1	172319526	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.313000	0.78978	1.168000	0.42723	0.549000	0.68633	CGC		TCGA-XN-A8T5-01A-12D-A36O-08	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	0	0	1	13	754	0	208	1	4.665530e-01	12	76	0	208	2		0	0	0	0	0	2	1	0.999486	13	743	0	207	2		0	0	0	0	208	2	-1.863349	0	0	121412	1	33	1	1	2	3	2.002054	0	0.090000	2.010000	0.096909	0.400000	0.210000	1.000000	0.380000	0.481861	0.400000	0	0.300000	0.620000
BDP1	55814	broad.mit.edu	37	5	70805902	70805902	+	Silent	SNP	A	A	C			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr5:70805902A>C	ENST00000358731.4	+	17	3246	c.2983A>C	c.(2983-2985)Agg>Cgg	p.R995R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB			72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)			AATATCCCCAAGGGAAAATGG	0.458000																								0							SO:0001819	synonymous_variant			ENST00000358731.4	1	0	hg19	CCDS43328.1																																																																																				TCGA-XN-A8T5-01A-12D-A36O-08	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	1	0	0	19	400	0	108	0	1.322063e-02	0	4	0	108	2		0	0	0	0	0	2	1	0.999991	19	397	0	106	2		0	0	0	0	108	2	-2.875430	1	1	0	0		1	1	2	3	2.002054	0	0.090000	2.010000	0.096909	0.990000	0.640000	1.000000	1.000000	0.939239	0.990000	1	0.830000	1.000000
RNF19A	25897	broad.mit.edu	37	8	101299991	101299991	+	Missense_Mutation	SNP	G	G	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr8:101299991G>A	ENST00000519449.1	-	3	728	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	RNF19A_ENST00000341084.2_Missense_Mutation_p.R138W	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase			30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		TTAGAATGCCGCAAAAGGCAC	0.373000																								0							SO:0001583	missense			ENST00000519449.1	0	1	hg19	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139684	0.77775	.	.	ENSG00000034677	ENST00000519449;ENST00000341084;ENST00000519527;ENST00000523167	D;D	0.84146	-1.81;-1.81	5.57	3.77	0.43336	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.056803	0.64402	D	0.000001	D	0.88123	0.6352	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	P	0.53490	0.727	D	0.87527	0.2450	10	0.66056	D	0.02	.	10.4328	0.44417	0.07:0.0:0.7955:0.1345	.	138	Q9NV58	RN19A_HUMAN	W	138	ENSP00000428968:R138W;ENSP00000342667:R138W	ENSP00000342667:R138W	R	-	1	2	RNF19A	101369167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.654000	0.67974	0.707000	0.31934	-0.142000	0.14014	CGG		TCGA-XN-A8T5-01A-12D-A36O-08	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	0	0	0	6	652	0	176	0	4.621547e-02	0	31	0	176	2		0	0	0	0	0	2	1	0.964593	6	649	0	174	2		0	0	0	0	176	2	-1.807905	0	1	121412	5	39	1	1	2	3	2.037026	0	0.090000	2.010000	0.104903	0.250000	0.090000	1.000000	0.210000	0.408627	0.250000	0	0.150000	1.000000
KCNT1	57582	broad.mit.edu	37	9	138651632	138651632	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:138651632C>T	ENST00000263604.3	+	11	905	c.905C>T	c.(904-906)aCg>aTg	p.T302M	KCNT1_ENST00000486577.2_Missense_Mutation_p.T282M|KCNT1_ENST00000488444.2_Missense_Mutation_p.T302M|KCNT1_ENST00000298480.5_Missense_Mutation_p.T321M|KCNT1_ENST00000371757.2_Missense_Mutation_p.T321M|KCNT1_ENST00000491806.2_Missense_Mutation_p.T288M|KCNT1_ENST00000487664.1_Missense_Mutation_p.T276M|KCNT1_ENST00000490355.2_Missense_Mutation_p.T302M			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1			50		Myeloproliferative disorder(178;0.0821)			GGTGACGTCACGCCCAAGATC	0.647000																								0							SO:0001583	missense			ENST00000263604.3	0	1	hg19		.	.	.	.	.	.	.	.	.	.	C	23.4	4.407869	0.83340	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000473941;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;D;T	0.97598	1.69;1.69;1.69;-4.45;1.69	5.05	5.05	0.67936	Ion transport 2 (1);	0.000000	0.85682	D	0.000000	D	0.98645	0.9546	M	0.89658	3.05	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.75020	0.985;0.978;0.963;0.978	D	0.99387	1.0924	10	0.54805	T	0.06	-17.2905	17.3952	0.87443	0.0:1.0:0.0:0.0	.	288;321;276;302	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	M	276;321;321;268;282;288;302;302;302	ENSP00000417851:T276M;ENSP00000298480:T321M;ENSP00000360822:T321M;ENSP00000420764:T268M;ENSP00000263604:T302M	ENSP00000263604:T302M	T	+	2	0	KCNT1	137791453	1.000000	0.71417	0.322000	0.25334	0.907000	0.53573	5.820000	0.69250	2.354000	0.79902	0.591000	0.81541	ACG		TCGA-XN-A8T5-01A-12D-A36O-08	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	0	0	5	210	0	48	0	0	0	1	0	48	2		0	0	0	0	0	2	1	0.935164	4	207	0	48	2		0	0	0	0	48	2	-6.555897	1	0	0	0		1	1	2	3	2.013038	0	0.090000	2.010000	0.099322	0.620000	0.220000	1.000000	1.000000	0.655578	0.620000	0	0.380000	1.000000
PHF2	5253	broad.mit.edu	37	9	96418827	96418827	+	Missense_Mutation	SNP	T	T	A			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chr9:96418827T>A	ENST00000359246.4	+	9	1464	c.1097T>A	c.(1096-1098)tTt>tAt	p.F366Y	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2			40		Myeloproliferative disorder(762;0.0255)			TTTCCCAACTTTGAAACTGCG	0.547000																								0							SO:0001583	missense			ENST00000359246.4	0	1	hg19	CCDS35069.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036665	0.54896	.	.	ENSG00000197724	ENST00000359246	T	0.57107	0.42	4.47	4.47	0.54385	.	0.049864	0.85682	D	0.000000	T	0.42040	0.1185	L	0.37466	1.105	0.80722	D	1	B	0.21309	0.054	B	0.18263	0.021	T	0.41142	-0.9525	10	0.66056	D	0.02	-15.2641	10.4792	0.44682	0.145:0.0:0.0:0.855	.	366	O75151	PHF2_HUMAN	Y	366	ENSP00000352185:F366Y	ENSP00000352185:F366Y	F	+	2	0	PHF2	95458648	1.000000	0.71417	0.994000	0.49952	0.839000	0.47603	4.898000	0.63238	1.864000	0.54056	0.254000	0.18369	TTT		TCGA-XN-A8T5-01A-12D-A36O-08	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1	0	0	0	7	201	0	45	1	2.477122e-01	4	21	0	45	2		0	0	0	0	0	2	1	0.980130	6	199	0	45	2		0	0	0	0	45	2	-9.292869	1	0	0	0		1	1	2	3	2.013038	0	0.090000	2.010000	0.099322	0.850000	0.360000	1.000000	1.000000	0.808059	0.850000	1	0.560000	1.000000
GABRQ	55879	broad.mit.edu	37	X	151821056	151821056	+	Missense_Mutation	SNP	C	C	T			TCGA-XN-A8T5-01A-12D-A36O-08	TCGA-XN-A8T5-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e58ead-3fcd-4072-a3be-7e7cb85bdd1b	7675d2ec-b443-4165-840c-260d72e921e9	g.chrX:151821056C>T	ENST00000370306.2	+	9	1231	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta			52	Acute lymphoblastic leukemia(192;6.56e-05)			Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATCACCCCAGCGCAGGCCCCC	0.582000																								0							SO:0001583	missense			ENST00000370306.2	1	1	hg19	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155193	0.38021	.	.	ENSG00000147402	ENST00000370306	D	0.85556	-2.0	4.59	-3.96	0.04106	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.728271	0.11312	N	0.577006	T	0.63271	0.2497	N	0.14661	0.345	0.09310	N	1	B	0.14805	0.011	B	0.15052	0.012	T	0.50651	-0.8803	10	0.18276	T	0.48	.	1.1737	0.01831	0.1361:0.3019:0.2665:0.2954	.	404	Q9UN88	GBRT_HUMAN	V	404	ENSP00000359329:A404V	ENSP00000359329:A404V	A	+	2	0	GABRQ	151571712	0.000000	0.05858	0.000000	0.03702	0.905000	0.53344	0.022000	0.13511	-0.993000	0.03467	0.600000	0.82982	GCG		TCGA-XN-A8T5-01A-12D-A36O-08	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	0	0	0	22	379	1	87	0	0	0	1	1	87	2		0	0	0	0	0	2	1	0.869637	22	375	1	85	16		0	0	0	1	87	2	-5.875165	1	1	0	0		1	0	1	1			0.090000	2.010000	0.090000	0.990000	0.780000	1.000000	1.000000	0.981237	0.990000	1	0.980000	1.000000