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
PPRC1	23082	broad.mit.edu	37	10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1			56		Colorectal(252;0.122)			CGCCGAGGCCGCAACAGCCGT	0.627000																								0							SO:0001583	missense			ENST00000278070.2	0	1	hg19	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	9.681000	1.149221	0.212880	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.37915	1.55;1.17	5.040000	3.190000	0.366420	.	0.407952	0.26903	N	0.021907	T	0.26011	0.0634	L	0.31926	0.97	0.807220	D	1.000000	B;B	0.19817	0.039;0.023	B;B	0.17433	0.018;0.005	T	0.04454	-1.0950	10	0.21014	T	0.42	.	11.965900	0.530350	0.1434:0.0:0.8566:0.0	.	1305;1425	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	H	1425;392	ENSP00000278070:R1425H;ENSP00000359029:R392H	ENSP00000278070:R1425H	R	+	2	0	PPRC1	103897013	1	0.714170	1.000000	0.803570	0.431000	0.316850	2.955000	0.491210	0.805000	0.341590	-0.379000	0.068010	CGC		TCGA-2J-AABV-01A-12D-A40W-08	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	0	0	5	419	0	100	0	9.240606e-02	0	35	0	100	2		0	0	0	0	0	2	1	0.925495	5	391	0	98	2								-2.257454	0	1	121412	2	37	1	1	2	3	2.034036	0	0.110000	2.010000	0.122548	0.260000	0.090000	1.000000	0.210000	0.392621	0.260000	0	1.600000e-01	1
ARHGAP22	58504	broad.mit.edu	37	10	49791051	49791051	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr10:49791051G>A	ENST00000249601.4	-	2	477	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_ENST00000435790.2_Silent_p.L67L|ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.L61L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22			18					TCCCCACGCAGCACAAACCAG	0.607000																								0							SO:0001819	synonymous_variant			ENST00000249601.4	0	1	hg19	CCDS7227.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	0	0	0	6	732	0	183	0	0	0	1	0	183	2		0	0	0	0	0	2	1	0.963710	6	723	0	180	2								-2.166961	0	1	0	0		1	1	2	3	2.034036	0	0.110000	2.010000	0.122548	0.170000	0.060000	1.000000	0.150000	0.325238	0.170000	0	1.100000e-01	1
ATM	472	broad.mit.edu	37	11	108178642	108178642	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:108178642G>A	ENST00000452508.2	+	39	5882	c.5693G>A	c.(5692-5694)cGa>cAa	p.R1898Q	ATM_ENST00000278616.4_Missense_Mutation_p.R1898Q			Q13315	ATM_HUMAN	ATM serine/threonine kinase			448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Caffeine(DB00201)	CACTTTTTCCGATGCTGTTTG	0.398000			D, Mis, N, F, S		T-PLL	leukemia, lymphoma, medulloblastoma, glioma		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		L, O	0							SO:0001583	missense	Familial Cancer Database	AT, Louis-Bar syndrome	ENST00000452508.2	1	1	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	11.320000	1.603627	0.285340	0.0	1.16E-4	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.74632	-0.86;-0.86	6.030000	4.130000	0.483950	Armadillo-type fold (1);	0.264244	0.39274	N	0.001409	T	0.59321	0.2185	L	0.45137	1.4	0.093100	N	1.000000	B	0.15473	0.013	B	0.04013	0.001	T	0.40646	-0.9552	10	0.15066	T	0.55	.	4.579800	0.122530	0.2461:0.0:0.6011:0.1528	.	1898	Q13315	ATM_HUMAN	Q	1898	ENSP00000278616:R1898Q;ENSP00000388058:R1898Q	ENSP00000278616:R1898Q	R	+	2	0	ATM	107683852	8.910000e-01	0.304500	0.169000	0.228590	0.982000	0.717510	2.079000	0.415770	0.831000	0.347800	0.655000	0.942530	CGA		TCGA-2J-AABV-01A-12D-A40W-08	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	0	0	0	6	151	0	46		0	0	0	0	46	2	1	9.999537e-01	17	675	0	323	2	1	0.965897	6	151	0	46	2								-4.021672	1	1	121406	34	45	1	0	1	1	1.997292	0	0.110000	2.010000	0.104583	0.710000	0.300000	1.000000	1.000000	0.718618	0.710000	0	4.700000e-01	1
ARHGEF12	23365	broad.mit.edu	37	11	120352231	120352231	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:120352231G>A	ENST00000397843.2	+	39	4666	c.4500G>A	c.(4498-4500)caG>caA	p.Q1500Q	ARHGEF12_ENST00000532993.1_Silent_p.Q1397Q|ARHGEF12_ENST00000356641.3_Silent_p.Q1481Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12			61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)			CAGATTCACAGAGCCAGATCA	0.458000			T	MLL	AML										Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0							SO:0001819	synonymous_variant			ENST00000397843.2	1	1	hg19	CCDS41727.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	0	0	0	10	346	0	128	0	4.556887e-02	1	10	0	128	2		0	0	0	0	0	2	1	0.996710	10	340	0	128	2								-2.920853	1	1	0	0		1	0	1	1	1.997292	0	0.110000	2.010000	0.104583	0.510000	0.260000	0.870000	0.490000	0.541336	0.510000	0	3.700000e-01	6.900000e-01
PACS1	55690	broad.mit.edu	37	11	66009102	66009102	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr11:66009102C>T	ENST00000320580.4	+	22	2667	c.2634C>T	c.(2632-2634)gtC>gtT	p.V878V	PACS1_ENST00000529757.1_Silent_p.V414V|PACS1_ENST00000524815.1_Silent_p.V6V	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1		RBM14/PACS1(2)	37					TGACTGTGGTCACCAAAGAAA	0.582000																								0							SO:0001819	synonymous_variant			ENST00000320580.4	0	1	hg19	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	10.430000	1.347801	0.244260	.	.	ENSG00000175115	ENST00000529677	.	.	.	5.420000	4.520000	0.553950	.	.	.	.	.	T	0.59891	0.2227	.	.	.	0.807220	D	1.000000	.	.	.	.	.	.	T	0.57917	-0.7728	4	.	.	.	-31.5432	9.219900	0.373700	0.0:0.7753:0.146:0.0787	.	.	.	.	Y	62	.	.	H	+	1	0	PACS1	65765678	1	0.714170	1.000000	0.803570	0.998000	0.957120	1.624000	0.370180	1.448000	0.476800	0.655000	0.942530	CAC		TCGA-2J-AABV-01A-12D-A40W-08	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	0	0	0	6	280	0	86	0	1.653729e-02	1	7	0	86	2		0	0	0	0	0	2	1	0.965039	6	279	0	86	2								-3.936919	1	1	0	0		1	0	1	1	1.997292	0	0.110000	2.010000	0.104583	0.400000	0.160000	0.750000	0.360000	0.425942	0.400000	0	2.600000e-01	5.700000e-01
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		pancreatic, colorectal, lung, thyroid, AML, others				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		L, E, M, O	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)						SO:0001583	missense	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	ENST00000256078.4	1	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.200000	4.808637	0.907070	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.680000	5.680000	0.881260	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.807220	D	1.000000	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.371900	0.904090	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1	0.714170	1.000000	0.803570	0.998000	0.957120	7.743000	0.850200	2.668000	0.907890	0.563000	0.778840	GGT		TCGA-2J-AABV-01A-12D-A40W-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	0	11	220	0	90	0	0	0	1	0	90	2	1	9.999582e-01	16	388	0	162	2	1	0.998334	11	217	0	90	2								-4.629783	1	1	0	0		1	1	2	3	2.072621	0	0.110000	2.010000	0.133356	0.990000	0.500000	1.000000	1.000000	0.892641	0.990000	1	7.100000e-01	1
RAPGEF3	10411	broad.mit.edu	37	12	48144186	48144186	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:48144186C>T	ENST00000449771.2	-	7	782	c.694G>A	c.(694-696)Gag>Aag	p.E232K	RAPGEF3_ENST00000548919.1_Missense_Mutation_p.E190K|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000549347.1_5'Flank|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.E190K|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.E190K|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.E232K|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.E190K			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3			25	Lung SC(27;0.192)				AGGTCCAGCTCTTCATCCGTG	0.647000																								0							SO:0001583	missense			ENST00000449771.2	0	1	hg19	CCDS41775.1	.	.	.	.	.	.	.	.	.	.	C	32.000000	5.106652	0.942920	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919;ENST00000395358;ENST00000466322	D;D;D;D;D;D;D;T	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;0.46	3.900000	3.900000	0.450410	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.058568	0.64402	D	0.000003	D	0.89378	0.6698	L	0.52011	1.625	0.807220	D	1.000000	D;D;D	0.76494	0.999;0.995;0.991	D;D;P	0.68765	0.96;0.91;0.777	D	0.90439	0.4430	10	0.72032	D	0.01	.	15.705700	0.775800	0.0:1.0:0.0:0.0	.	244;232;232	B7Z5J6;O95398-2;O95398	.;.;RPGF3_HUMAN	K	190;232;190;190;190;232;244;190;232;190	ENSP00000384521:E190K;ENSP00000395708:E232K;ENSP00000448619:E190K;ENSP00000171000:E190K;ENSP00000373864:E232K;ENSP00000448480:E190K;ENSP00000378764:E232K;ENSP00000446731:E190K	ENSP00000171000:E190K	E	-	1	0	RAPGEF3	46430453	1	0.714170	1.000000	0.803570	0.945000	0.592860	7.063000	0.767140	2.479000	0.837010	0.655000	0.942530	GAG		TCGA-2J-AABV-01A-12D-A40W-08	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257848.1	0	0	0	6	147	0	42	0	1.285889e-02	0	4	0	42	2		0	0	0	0	0	2	1	0.965217	6	146	0	42	2								-8.916830	1	1	0	0		1	0	1	1	1.989734	0	0.110000	2.010000	0.102596	0.720000	0.310000	1.000000	1.000000	0.729774	0.720000	0	4.800000e-01	1
DDN	23109	broad.mit.edu	37	12	49391585	49391585	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:49391585C>T	ENST00000421952.2	-	2	1095	c.1074G>A	c.(1072-1074)ccG>ccA	p.P358P	RP11-386G11.3_ENST00000549516.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin			8					GAGCGGGATGCGGGGCACAGG	0.597000																								0							SO:0001819	synonymous_variant			ENST00000421952.2	0	1	hg19	CCDS31791.2																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1	0	0	0	5	251	0	65		0	0	0	0	65	2		0	0	0	0	0	2	1	0.934185	5	245	0	64	2								-3.294345	1	1	0	0		1	0	1	1	1.989734	0	0.110000	2.010000	0.102596	0.370000	0.140000	0.740000	0.330000	0.404851	0.370000	0	2.400000e-01	5.600000e-01
SCN8A	6334	broad.mit.edu	37	12	52145205	52145205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:52145205G>A	ENST00000354534.6	+	14	2376	c.2198G>A	c.(2197-2199)tGg>tAg	p.W733*	SCN8A_ENST00000545061.1_Nonsense_Mutation_p.W733*|SCN8A_ENST00000550891.1_Nonsense_Mutation_p.W733*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit			55				Valproic Acid(DB00313)	TTCCTCATCTGGGAGTGCCAC	0.443000																								0							SO:0001587	stop_gained			ENST00000354534.6	0	1	hg19	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	40.000000	7.924604	0.985630	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	.	.	.	4.910000	4.910000	0.643300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.807220	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.667000	0.914930	0.0:0.0:1.0:0.0	.	.	.	.	X	733;733;733;733;646	.	ENSP00000346534:W733X	W	+	2	0	SCN8A	50431472	1	0.714170	1.000000	0.803570	0.997000	0.918780	9.657000	0.985540	2.727000	0.933920	0.650000	0.862430	TGG		TCGA-2J-AABV-01A-12D-A40W-08	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	1	0	0	29	663	0	194		0	0	0	0	194	2		0	0	0	0	0	2	1	1.000000	29	649	0	193	2								-2.419650	0	1	0	0		1	0	1	1	1.989734	0	0.110000	2.010000	0.102596	0.750000	0.510000	1.000000	1.000000	0.765723	0.750000	0	6.200000e-01	9.000000e-01
DGKA	1606	broad.mit.edu	37	12	56333270	56333270	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr12:56333270C>T	ENST00000331886.5	+	9	1120	c.666C>T	c.(664-666)tgC>tgT	p.C222C	DGKA_ENST00000551156.1_Silent_p.C222C|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Silent_p.C222C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa			25				Vitamin E(DB00163)	GCAATCTGTGCGAGTCAAGCA	0.557000																								0							SO:0001819	synonymous_variant			ENST00000331886.5	0	1	hg19	CCDS8896.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1	0	0	0	6	587	0	146		0	0	0	0	146	2		0	0	0	0	0	2	1	0.963042	6	576	0	145	2								-2.179401	0	1	121412	1	34	1	0	1	1	1.989734	0	0.110000	2.010000	0.102596	0.190000	0.070000	0.370000	0.180000	0.209016	0.190000	0	1.200000e-01	2.800000e-01
METTL3	56339	broad.mit.edu	37	14	21967676	21967676	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:21967676C>T	ENST00000298717.4	-	8	1563	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3			20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)		GTGACCTGTACGGCCTGTCCG	0.443000																								0							SO:0001583	missense			ENST00000298717.4	1	1	hg19	CCDS32044.1	.	.	.	.	.	.	.	.	.	.	C	24.400000	4.527083	0.857060	.	.	ENSG00000165819	ENST00000298717	T	0.43688	0.94	4.900000	4.020000	0.467330	.	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.82132	2.575	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	T	0.69822	-0.5041	10	0.87932	D	0	-9.3172	12.398300	0.553970	0.0:0.9167:0.0:0.0833	.	471	Q86U44	MTA70_HUMAN	H	471	ENSP00000298717:R471H	ENSP00000298717:R471H	R	-	2	0	METTL3	21037516	1	0.714170	0.994000	0.499520	0.991000	0.796840	7.059000	0.766840	1.300000	0.448180	0.460000	0.390300	CGT		TCGA-2J-AABV-01A-12D-A40W-08	METTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401227.1	0	0	0	24	719	1	201	1	2.540641e-01	6	23	1	201	2		0	0	0	0	0	2	1	0.962688	24	712	1	200	14								-2.826855	1	0	0	0		1	1	2	3	2.021859	0	0.110000	2.010000	0.120162	0.620000	0.390000	1.000000	0.600000	0.672269	0.620000	0	4.900000e-01	9.900000e-01
ALKBH1	8846	broad.mit.edu	37	14	78174236	78174236	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr14:78174236C>T	ENST00000216489.3	-	1	127	c.112G>A	c.(112-114)Gca>Aca	p.A38T	SLIRP_ENST00000557431.1_5'Flank|SLIRP_ENST00000557623.1_5'Flank|SLIRP_ENST00000557342.1_5'Flank|SLIRP_ENST00000238688.5_5'Flank	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)			9			Kidney(204;0.164)		TCCAGGTCTGCGGTCCCGGGC	0.672000																								0							SO:0001583	missense			ENST00000216489.3	0	1	hg19	CCDS32127.1	.	.	.	.	.	.	.	.	.	.	C	15.640000	2.892759	0.521210	.	.	ENSG00000100601	ENST00000216489	T	0.31510	1.49	5.960000	1.950000	0.260730	.	0.343898	0.33792	N	0.004541	T	0.17662	0.0424	M	0.62723	1.935	0.093100	N	1.000000	P	0.42161	0.772	B	0.27262	0.078	T	0.17198	-1.0377	10	0.22109	T	0.4	-9.2796	2.060900	0.035920	0.1977:0.4796:0.1109:0.2118	.	38	Q13686	ALKB1_HUMAN	T	38	ENSP00000216489:A38T	ENSP00000216489:A38T	A	-	1	0	ALKBH1	77243989	1.100000e-02	0.175030	0.035000	0.180760	0.797000	0.450370	-0.010000	0.127430	0.423000	0.260330	0.655000	0.942530	GCA		TCGA-2J-AABV-01A-12D-A40W-08	ALKBH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414037.1	0	0	0	5	350	0	83	0	3.286231e-04	0	2	0	83	2		0	0	0	0	0	2	1	0.933661	5	341	0	83	2								-2.647650	1	1	121366	1	28	1	1	2	3	2.001128	0	0.110000	2.010000	0.115352	0.290000	0.100000	1.000000	0.250000	0.362945	0.290000	0	1.800000e-01	4.900000e-01
HERC2	8924	broad.mit.edu	37	15	28370319	28370319	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr15:28370319C>T	ENST00000261609.7	-	84	12931	c.12823G>A	c.(12823-12825)Gac>Aac	p.D4275N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2			204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)			TCATCATTGTCGCCCCATGTA	0.522000																								0							SO:0001583	missense			ENST00000261609.7	1	1	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	35.000000	5.539421	0.964740	.	.	ENSG00000128731	ENST00000261609	D	0.84298	-1.83	5.190000	5.190000	0.717260	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.86924	0.6050	N	0.16833	0.445	0.807220	D	1.000000	D	0.89917	1.0	D	0.97110	1.0	D	0.87797	0.2622	10	0.42905	T	0.14	.	18.720100	0.916890	0.0:1.0:0.0:0.0	.	4275	O95714	HERC2_HUMAN	N	4275	ENSP00000261609:D4275N	ENSP00000261609:D4275N	D	-	1	0	HERC2	26043914	1	0.714170	0.996000	0.522420	0.992000	0.810270	7.808000	0.860440	2.408000	0.817970	0.655000	0.942530	GAC		TCGA-2J-AABV-01A-12D-A40W-08	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	0	0	29	1062	0	306	0	4.486779e-03	0	4	0	306	2		0	0	0	0	0	2	1	1.000000	29	1043	0	303	2								-2.466240	0	1	0	0		1	0	0	0	1.963904	0	0.110000	2.010000	0.088955	0.470000	0.320000	0.650000	0.470000	0.482943	0.470000	0	3.900000e-01	5.700000e-01
CX3CL1	6376	broad.mit.edu	37	16	57413650	57413650	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr16:57413650G>A	ENST00000006053.6	+	2	286	c.175G>A	c.(175-177)Ggc>Agc	p.G59S	CX3CL1_ENST00000564948.1_Intron|CX3CL1_ENST00000563383.1_Missense_Mutation_p.G65S|CX3CL1_ENST00000565912.1_Missense_Mutation_p.G21S	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	p.G59C(1)		5					GGCATCATGCGGCAAACGCGC	0.512000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000006053.6	1	1	hg19	CCDS10779.1	.	.	.	.	.	.	.	.	.	.	G	6.658000	0.489915	0.127020	.	.	ENSG00000006210	ENST00000006053	T	0.12569	2.67	3.000000	1.040000	0.201060	Chemokine interleukin-8-like domain (3);	1.124180	0.06795	N	0.787674	T	0.06188	0.0160	N	0.04880	-0.145	0.093100	N	1.000000	P	0.43885	0.82	B	0.35770	0.21	T	0.28332	-1.0047	10	0.87932	D	0	-9.8139	5.723300	0.179980	0.2286:0.0:0.7714:0.0	.	59	P78423	X3CL1_HUMAN	S	59	ENSP00000006053:G59S	ENSP00000006053:G59S	G	+	1	0	CX3CL1	55971151	0	0.058580	0.002000	0.105220	0.022000	0.105750	0.291000	0.189940	0.341000	0.237710	0.460000	0.390300	GGC		TCGA-2J-AABV-01A-12D-A40W-08	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257345.3	0	0	0	8	312	0	95	0	8.653347e-04	0	2	0	95	2		0	0	0	0	0	2	1	0.989329	8	310	0	95	2								-2.651463	1	1	0	0		1	1	2	3	2.000755	0	0.110000	2.010000	0.115352	0.490000	0.220000	1.000000	0.450000	0.543123	0.490000	0	3.400000e-01	7.500000e-01
KRT33A	3883	broad.mit.edu	37	17	39506938	39506938	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:39506938C>T	ENST00000007735.3	-	1	126	c.82G>A	c.(82-84)Ggc>Agc	p.G28S		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A			21		Breast(137;0.000496)			AGGGTGCAGCCGTGGCAGCTG	0.642000																								0							SO:0001583	missense			ENST00000007735.3	0	1	hg19	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	C	11.150000	1.552601	0.277390	.	.	ENSG00000006059	ENST00000007735	D	0.81579	-1.51	5.090000	-4.820000	0.031710	.	0.804604	0.11801	N	0.528143	T	0.62097	0.2400	N	0.12746	0.255	0.093100	N	1.000000	B	0.16166	0.016	B	0.11329	0.006	T	0.40887	-0.9539	10	0.33940	T	0.23	.	14.440500	0.673140	0.0:0.8319:0.0:0.1681	.	28	O76009	KT33A_HUMAN	S	28	ENSP00000007735:G28S	ENSP00000007735:G28S	G	-	1	0	KRT33A	36760464	0	0.058580	0.002000	0.105220	0.875000	0.503650	-0.320000	0.080280	-0.820000	0.043180	-0.262000	0.106250	GGC		TCGA-2J-AABV-01A-12D-A40W-08	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	0	0	0	9	322	0	89		0	0	0	0	89	2		0	0	0	0	0	2	1	0.993632	8	315	0	88	2								-3.558084	1	1	121360	6	38	1	1	2	3	2.031923	0	0.110000	2.010000	0.122072	0.560000	0.260000	1.000000	0.490000	0.623014	0.560000	0	3.800000e-01	1
HN1	51155	broad.mit.edu	37	17	73132223	73132223	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:73132223C>T	ENST00000409753.3	-	5	724	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	HN1_ENST00000470924.1_Missense_Mutation_p.G101S|HN1_ENST00000476258.1_Missense_Mutation_p.G101S|HN1_ENST00000356033.4_Silent_p.A140A|HN1_ENST00000481647.1_Missense_Mutation_p.G101S|HN1_ENST00000482348.1_Missense_Mutation_p.G101S|HN1_ENST00000392566.2_Missense_Mutation_p.G101S|HN1_ENST00000405458.3_Missense_Mutation_p.G101S|RP11-649A18.5_ENST00000584339.1_RNA	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1		HN1/USH1G(2)	1	all_lung(278;0.14)|Lung NSC(278;0.168)				CTGGACTTGCCGCCAGGGGGA	0.617000																								0							SO:0001583	missense			ENST00000409753.3	0	1	hg19	CCDS45771.1	.	.	.	.	.	.	.	.	.	.	C	34.000000	5.394833	0.960090	.	.	ENSG00000189159	ENST00000405458;ENST00000409753;ENST00000392566	.	.	.	5.870000	5.870000	0.943060	.	.	.	.	.	D	0.83403	0.5247	.	.	.	0.517670	D	0.999934	D	0.89917	1.0	D	0.91635	0.999	D	0.84802	0.0785	7	0.87932	D	0	-34.3147	18.382100	0.904540	0.0:1.0:0.0:0.0	.	147	Q9UK76	HN1_HUMAN	S	101;147;101	.	ENSP00000440912:G101S	G	-	1	0	HN1	70643818	9.980000e-01	0.408360	0.969000	0.413650	0.961000	0.630800	4.949000	0.635960	2.773000	0.953710	0.643000	0.837060	GGC		TCGA-2J-AABV-01A-12D-A40W-08	HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	0	0	0	11	469	0	98	0	9.465419e-01	1	215	0	98	2		0	0	0	0	0	2	1	0.998311	11	466	0	98	2								-2.681738	1	1	0	0		1	0	1	1	1.994252	0	0.110000	2.010000	0.104087	0.420000	0.220000	0.690000	0.410000	0.441610	0.420000	0	3.100000e-01	5.600000e-01
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron	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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557000		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	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	GRCh37	CM056413|CM920678	TP53	M	rs28934574	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	.	.	.	.	.	.	.	.	.	.	G	20.800000	4.057525	0.760740	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.750000	1.490000	0.228780	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.584320	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.750800	0.346130	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1	0.714170	0.327000	0.254020	0.901000	0.528970	4.477000	0.602230	0.174000	0.198090	0.462000	0.415740	CGG		TCGA-2J-AABV-01A-12D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	8	169	0	53	1	4.788668e-02	3	4	0	53	2	1	1	52	1270	0	618	2	1	0.988879	8	165	0	52	2								-2.994159	1	1	121412	2	36	1	0	1	1	1.976493	0	0.110000	2.010000	0.098095	0.810000	0.390000	1.000000	1.000000	0.799086	0.810000	0	5.700000e-01	1
TYK2	7297	broad.mit.edu	37	19	10463185	10463185	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:10463185C>T	ENST00000525621.1	-	23	3724	c.3243G>A	c.(3241-3243)gcG>gcA	p.A1081A	TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Silent_p.A1081A|TYK2_ENST00000524462.1_Silent_p.A896A	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2			64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		AGACATCTGACGCATAGTAGA	0.637000																								0							SO:0001819	synonymous_variant			ENST00000525621.1	1	1	hg19	CCDS12236.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1	0	0	0	15	442	0	127	0	1.924777e-01	1	22	0	127	2		0	0	0	0	0	2	1	0.999846	15	429	0	126	2								-13.884140	1	1	0	0		1	1	2	3	2.012788	0	0.110000	2.010000	0.118244	0.640000	0.360000	1.000000	0.600000	0.677337	0.640000	0	4.800000e-01	9.400000e-01
HRC	3270	broad.mit.edu	37	19	49657755	49657755	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:49657755T>C	ENST00000252825.4	-	1	926	c.740A>G	c.(739-741)gAc>gGc	p.D247G	HRC_ENST00000595625.1_Missense_Mutation_p.D247G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein			34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)			atcatcatcgtcatcttcttc	0.507000													Melanoma(37;75 1097 24567 25669 30645)											0							SO:0001583	missense			ENST00000252825.4	0	1	hg19	CCDS12759.1	.	.	.	.	.	.	.	.	.	.	t	7.560000	0.664495	0.147100	.	.	ENSG00000130528	ENST00000252825;ENST00000434964	T	0.09350	2.99	3.170000	2.140000	0.274770	.	.	.	.	.	T	0.06735	0.0172	N	0.24115	0.695	0.093100	N	1.000000	B	0.02656	0.0	B	0.01281	0.0	T	0.43245	-0.9403	9	0.21014	T	0.42	.	6.769500	0.235870	0.0:0.1232:0.0:0.8768	.	247	P23327	SRCH_HUMAN	G	247;217	ENSP00000252825:D247G	ENSP00000252825:D247G	D	-	2	0	HRC	54349567	0	0.058580	0.003000	0.115790	0.059000	0.157070	-0.119000	0.106760	0.258000	0.216860	-0.758000	0.034660	GAC		TCGA-2J-AABV-01A-12D-A40W-08	HRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465649.1	0	0	0	4	131	0	54		0	0	0	0	54	2		0	0	0	0	0	2	1	0.874525	3	123	0	52	2								-7.013622	1	0	0	0		1	0	1	1	1.989875	0	0.110000	2.010000	0.102596	0.570000	0.190000	1.000000	1.000000	0.600131	0.570000	0	3.500000e-01	8.600000e-01
LRRC4B	94030	broad.mit.edu	37	19	51021882	51021882	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:51021882G>A	ENST00000599957.1	-	3	1285	c.1088C>T	c.(1087-1089)gCg>gTg	p.A363V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A363V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B			30		all_neural(266;0.131)			GATGACGGGCGCATAGCAGGT	0.667000																								0							SO:0001583	missense			ENST00000599957.1	0	1	hg19	CCDS42595.1	.	.	.	.	.	.	.	.	.	.	G	16.420000	3.119090	0.565050	.	.	ENSG00000131409	ENST00000389201;ENST00000535879	T	0.33216	1.42	3.900000	3.900000	0.450410	Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	T	0.17280	0.0415	L	0.38953	1.18	0.547530	D	0.999983	P	0.48162	0.906	B	0.19946	0.027	T	0.12268	-1.0554	10	0.39692	T	0.17	.	13.791100	0.631400	0.0:0.0:1.0:0.0	.	363	Q9NT99	LRC4B_HUMAN	V	363	ENSP00000373853:A363V	ENSP00000373853:A363V	A	-	2	0	LRRC4B	55713694	1	0.714170	0.990000	0.471750	0.943000	0.588930	9.648000	0.984830	2.192000	0.701110	0.561000	0.740990	GCG		TCGA-2J-AABV-01A-12D-A40W-08	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	0	0	0	4	194	0	48		0	0	0	0	48	2		0	0	0	0	0	2	1	0.883855	4	188	0	48	2								-3.172525	1	1	0	0		1	0	1	1	1.989875	0	0.110000	2.010000	0.102596	0.390000	0.130000	0.830000	0.360000	0.430056	0.390000	0	2.400000e-01	6.100000e-01
ZNRF4	148066	broad.mit.edu	37	19	5456659	5456659	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:5456659T>C	ENST00000222033.4	+	1	1234	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4			16					ATCTGGGCCATTCAAGTCCAG	0.662000																								0							SO:0001583	missense			ENST00000222033.4	1	1	hg19	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	T	2.697000	-0.271774	0.057160	.	.	ENSG00000105428	ENST00000222033	T	0.04706	3.57	3.470000	1.020000	0.199860	.	0.686881	0.13351	U	0.394422	T	0.03095	0.0091	L	0.29908	0.895	0.093100	N	1.000000	B	0.26002	0.139	B	0.14578	0.011	T	0.44159	-0.9346	10	0.27785	T	0.31	-11.1573	3.598400	0.080140	0.2261:0.0:0.2332:0.5407	.	386	Q8WWF5	ZNRF4_HUMAN	T	386	ENSP00000222033:I386T	ENSP00000222033:I386T	I	+	2	0	ZNRF4	5407659	6.970000e-01	0.277670	0.686000	0.300860	0.005000	0.049000	1.600000	0.367620	0.473000	0.273680	-0.516000	0.044260	ATT		TCGA-2J-AABV-01A-12D-A40W-08	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	0	0	0	10	333	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	0.996554	11	323	0	71	2								-10.884310	1	1	120902	1	30	1	1	2	3	2.012788	0	0.110000	2.010000	0.118244	0.580000	0.280000	1.000000	0.520000	0.627998	0.580000	0	4.100000e-01	9.200000e-01
OR7G3	390883	broad.mit.edu	37	19	9236903	9236903	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr19:9236903C>A	ENST00000305444.2	-	1	723	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3			15					AAATGTGACCCGCAGATGGAA	0.448000																								0							SO:0001583	missense			ENST00000305444.2	0	1	hg19	CCDS32899.1	.	.	.	.	.	.	.	.	.	.	C	14.510000	2.555942	0.454870	.	.	ENSG00000170920	ENST00000305444	T	0.37915	1.17	3.960000	3.960000	0.458800	GPCR, rhodopsin-like superfamily (1);	0.178246	0.26369	U	0.024780	T	0.67468	0.2896	H	0.97587	4.035	0.214990	N	0.999668	D	0.63046	0.992	D	0.70935	0.971	T	0.64373	-0.6423	10	0.87932	D	0	.	5.923600	0.190960	0.0:0.6979:0.1968:0.1053	.	242	Q8NG95	OR7G3_HUMAN	W	242	ENSP00000302867:G242W	ENSP00000302867:G242W	G	-	1	0	OR7G3	9097903	0	0.058580	0.690000	0.301480	0.116000	0.199420	-0.903000	0.040840	2.251000	0.743430	0.551000	0.689100	GGG		TCGA-2J-AABV-01A-12D-A40W-08	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1	0	0	0	5	580	0	167		0	0	0	0	167	2		0	0	0	0	0	2	1	0.935500	5	573	0	165	2								-2.042200	0	1	0	0		1	1	2	3	2.012788	0	0.110000	2.010000	0.118244	0.180000	0.060000	1.000000	0.150000	0.293166	0.180000	0	1.100000e-01	3.500000e-01
KCNC4	3749	broad.mit.edu	37	1	110768613	110768613	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:110768613C>T	ENST00000369787.3	+	3	1659	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	KCNC4_ENST00000438661.2_Silent_p.G544G|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Silent_p.G544G	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4			32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)			AGCAGAATGGCGATGCCAACG	0.652000																								0							SO:0001819	synonymous_variant			ENST00000369787.3	0	1	hg19	CCDS821.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	0	0	0	5	322	0	70	0	7.451806e-03	0	7	0	70	2		0	0	0	0	0	2	1	0.935456	5	317	0	70	2								-2.981588	1	1	121378	5	39	1	0	1	1	1.990172	0	0.110000	2.010000	0.103094	0.290000	0.110000	0.590000	0.270000	0.320294	0.290000	0	1.800000e-01	4.400000e-01
OBSCN	84033	broad.mit.edu	37	1	228400270	228400270	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:228400270C>T	ENST00000422127.1	+	2	830	c.786C>T	c.(784-786)acC>acT	p.T262T	OBSCN_ENST00000284548.11_Silent_p.T262T|C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000570156.2_Silent_p.T262T|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF			223		Prostate(94;0.0405)			GCTACGTGACCGGCGAGCCCA	0.711000																								0							SO:0001819	synonymous_variant			ENST00000422127.1	0	1	hg19	CCDS58065.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	0	0	6	336	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	0.960554	7	321	0	77	2								-3.135327	1	1	0	0		1	1	2	3	2.030060	0	0.110000	2.010000	0.122072	0.380000	0.140000	1.000000	0.310000	0.480689	0.380000	0	2.400000e-01	1
RYR2	6262	broad.mit.edu	37	1	237632393	237632393	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	MIR4428_ENST00000584884.1_RNA|RYR2_ENST00000542537.1_Splice_Site_p.A522A|RYR2_ENST00000360064.6_Splice_Site_p.A536A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)			586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		CTTTTGCAGCGGCTCTAATTA	0.378000																								0							SO:0001630	splice_region_variant			ENST00000366574.2	0	1	hg19	CCDS55691.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	0	0	0	8	254	0	51		0	0	0	0	51	2		0	0	0	0	0	2	1	0.989176	8	251	0	51	2								-3.437875	1	1	120782	1	28	1	1	2	3	2.030060	0	0.110000	2.010000	0.122072	0.640000	0.280000	1.000000	1.000000	0.677169	0.640000	0	4.300000e-01	1
ZHX3	23051	broad.mit.edu	37	20	39833205	39833205	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr20:39833205C>T	ENST00000309060.3	-	4	767	c.352G>A	c.(352-354)Gca>Aca	p.A118T	ZHX3_ENST00000557816.1_Missense_Mutation_p.A118T|ZHX3_ENST00000560361.1_Missense_Mutation_p.A118T|ZHX3_ENST00000432768.2_Missense_Mutation_p.A118T|ZHX3_ENST00000544979.2_Missense_Mutation_p.A118T|ZHX3_ENST00000559234.1_Missense_Mutation_p.A118T|ZHX3_ENST00000540170.1_Missense_Mutation_p.A118T|ZHX3_ENST00000558993.1_Missense_Mutation_p.A118T			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3			31		Myeloproliferative disorder(115;0.00425)			GGGGTTTTTGCCAGAAAACTG	0.493000																								0							SO:0001583	missense			ENST00000309060.3	0	1	hg19	CCDS13315.1	.	.	.	.	.	.	.	.	.	.	C	10.390000	1.335660	0.242530	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000432768;ENST00000441102;ENST00000419740	T;T;T;T;T	0.26373	1.74;3.17;3.17;2.97;1.74	6.070000	6.070000	0.986850	Zinc finger, C2H2-like (1);	0.159420	0.56097	D	0.000037	T	0.22166	0.0534	N	0.20530	0.585	0.383710	D	0.944878	B;B;B;P	0.47545	0.044;0.044;0.296;0.897	B;B;B;P	0.46585	0.047;0.047;0.079;0.521	T	0.01720	-1.1288	10	0.05351	T	0.99	-15.9229	20.643900	0.995700	0.0:1.0:0.0:0.0	.	118;118;118;118	A8K8Q0;Q9H4I2;F5H820;F6R4Q5	.;ZHX3_HUMAN;.;.	T	118	ENSP00000312222:A118T;ENSP00000362360:A118T;ENSP00000442290:A118T;ENSP00000443783:A118T;ENSP00000415498:A118T	ENSP00000312222:A118T	A	-	1	0	ZHX3	39266619	1	0.714170	1.000000	0.803570	0.996000	0.888480	3.238000	0.513520	2.884000	0.989040	0.655000	0.942530	GCA		TCGA-2J-AABV-01A-12D-A40W-08	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3	0	0	0	5	471	0	139		0	0	0	0	139	2		0	0	0	0	0	2	1	0.935032	5	463	0	136	2								-2.253786	0	1	0	0		1	1	2	3	2.014021	0	0.110000	2.010000	0.118244	0.220000	0.080000	1.000000	0.190000	0.329220	0.220000	0	1.300000e-01	4.200000e-01
TRAPPC10	7109	broad.mit.edu	37	21	45503147	45503147	+	Silent	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr21:45503147G>A	ENST00000291574.4	+	14	2377	c.2202G>A	c.(2200-2202)ctG>ctA	p.L734L		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10			41					ACGTGACCCTGGAACCAGGGG	0.572000																								0							SO:0001819	synonymous_variant			ENST00000291574.4	0	1	hg19	CCDS13704.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	0	0	0	6	660	0	197	0	0	0	1	0	197	2		0	0	0	0	0	2	1	0.964097	6	655	0	196	2								-2.442790	0	1	0	0		1	0	1	1	1.995223	0	0.110000	2.010000	0.104087	0.170000	0.060000	0.330000	0.160000	0.186825	0.170000	0	1.100000e-01	2.500000e-01
SCN1A	6323	broad.mit.edu	37	2	166866301	166866301	+	Silent	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:166866301T>A	ENST00000303395.4	-	20	3929	c.3930A>T	c.(3928-3930)ggA>ggT	p.G1310G	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Silent_p.G1299G|SCN1A_ENST00000409050.1_Silent_p.G1282G|SCN1A_ENST00000423058.2_Silent_p.G1310G			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit			200				Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATTTGATGGCTCCAAGTTCTG	0.378000																								0							SO:0001819	synonymous_variant			ENST00000303395.4	0	1	hg19	CCDS54413.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	0	0	0	5	388	0	141		0	0	0	0	141	2		0	0	0	0	0	2	1	0.936658	5	385	0	140	2								-3.082090	1	1	0	0		1	1	2	3	2.019003	0	0.110000	2.010000	0.119204	0.270000	0.090000	1.000000	0.220000	0.379445	0.270000	0	1.600000e-01	5.600000e-01
LRP2	4036	broad.mit.edu	37	2	170044544	170044544	+	Silent	SNP	G	G	A	rs143637076		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:170044544G>A	ENST00000263816.3	-	49	9549	c.9264C>T	c.(9262-9264)atC>atT	p.I3088I		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	p.I3088I(1)		315				"""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"	TCATCATCTCGATGCAGCGCC	0.512000																								1	Substitution - coding silent(1)						SO:0001819	synonymous_variant			ENST00000263816.3	1	1	hg19	CCDS2232.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	0	0	12	398	0	134		0	0	0	0	134	2		0	0	0	0	0	2	1	0.999064	12	392	0	132	2								-3.025492	1	1	121412	2	39	1	1	2	3	2.019003	0	0.110000	2.010000	0.119204	0.580000	0.300000	1.000000	0.540000	0.631359	0.580000	0	4.200000e-01	9.400000e-01
COL5A2	1290	broad.mit.edu	37	2	189945762	189945762	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:189945762C>T	ENST00000374866.3	-	13	1134	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2			95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		AGGAAATCCACGAGCTCCCTG	0.413000																								0							SO:0001583	missense			ENST00000374866.3	0	1	hg19	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	21.900000	4.216368	0.793520	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94232	-3.38	5.260000	5.260000	0.737470	.	0.000000	0.42964	D	0.000627	D	0.96137	0.8741	M	0.77820	2.39	0.512330	D	0.999915	D;D	0.71674	0.998;0.995	D;D	0.71184	0.964;0.972	D	0.95592	0.8655	9	.	.	.	.	14.230600	0.658900	0.0:1.0:0.0:0.0	.	104;287	Q5PR22;P05997	.;CO5A2_HUMAN	H	287;104	ENSP00000364000:R287H	.	R	-	2	0	COL5A2	189654007	1	0.714170	1.000000	0.803570	0.722000	0.414350	5.417000	0.664230	2.732000	0.935760	0.555000	0.697020	CGT		TCGA-2J-AABV-01A-12D-A40W-08	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	0	0	0	7	285	0	78	0	0	0	1	0	78	2		0	0	0	0	0	2	1	0.979728	7	280	0	77	2								-3.502977	1	1	0	0		1	1	2	3	2.019003	0	0.110000	2.010000	0.119204	0.500000	0.210000	1.000000	0.440000	0.561364	0.500000	0	3.300000e-01	9.100000e-01
ALS2	57679	broad.mit.edu	37	2	202606452	202606452	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:202606452C>T	ENST00000264276.6	-	11	2668	c.2296G>A	c.(2296-2298)Gcc>Acc	p.A766T	ALS2_ENST00000457679.2_Missense_Mutation_p.A78T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)			72					AAACTCCTGGCTTCCTTTACC	0.488000																								0							SO:0001583	missense			ENST00000264276.6	1	1	hg19	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	C	19.090000	3.760467	0.697630	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	T;T	0.63255	-0.03;-0.03	5.970000	5.090000	0.689990	Dbl homology (DH) domain (4);	0.178064	0.49305	D	0.000148	T	0.69557	0.3124	L	0.27053	0.805	0.414890	D	0.988215	D;D;B	0.89917	1.0;0.97;0.146	D;P;B	0.87578	0.998;0.801;0.326	T	0.73316	-0.4021	10	0.54805	T	0.06	.	16.604700	0.848250	0.1313:0.8687:0.0:0.0	.	766;766;766	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	T	766;78	ENSP00000264276:A766T;ENSP00000394823:A78T	ENSP00000264276:A766T	A	-	1	0	ALS2	202314697	1	0.714170	1.000000	0.803570	0.945000	0.592860	3.060000	0.499550	1.515000	0.488850	-0.182000	0.129630	GCC		TCGA-2J-AABV-01A-12D-A40W-08	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	1	0	0	8	200	0	58		0	0	0	0	58	2		0	0	0	0	0	2	1	0.989579	8	199	0	58	2								-10.023990	1	1	120876	1	33	1	1	2	3	2.019003	0	0.110000	2.010000	0.119204	0.780000	0.350000	1.000000	1.000000	0.771723	0.780000	0	5.300000e-01	1
CYP26B1	56603	broad.mit.edu	37	2	72359477	72359477	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr2:72359477C>T	ENST00000001146.2	-	6	1621	c.1418G>A	c.(1417-1419)cGc>cAc	p.R473H	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R398H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R282H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1			28					CAAGGTGATGCGGGGGAAGGT	0.647000																								0							SO:0001583	missense			ENST00000001146.2	0	1	hg19	CCDS1919.1	.	.	.	.	.	.	.	.	.	.	C	24.200000	4.506780	0.852820	.	.	ENSG00000003137	ENST00000001146;ENST00000412253;ENST00000546307	T;T;T	0.69306	-0.39;-0.39;-0.39	5.640000	5.640000	0.866020	.	0.112172	0.56097	D	0.000031	T	0.65842	0.2730	L	0.38175	1.15	0.463560	D	0.999003	P;P;P	0.51449	0.907;0.945;0.792	P;P;P	0.53954	0.631;0.738;0.631	T	0.66089	-0.6010	10	0.52906	T	0.07	-4.0647	9.126300	0.368160	0.0:0.8455:0.0:0.1545	.	398;456;473	B7Z2K6;B7Z2P4;Q9NR63	.;.;CP26B_HUMAN	H	473;282;398	ENSP00000001146:R473H;ENSP00000401465:R282H;ENSP00000443304:R398H	ENSP00000001146:R473H	R	-	2	0	CYP26B1	72212985	1	0.714170	1.000000	0.803570	0.999000	0.989320	2.746000	0.474670	2.837000	0.977910	0.655000	0.942530	CGC		TCGA-2J-AABV-01A-12D-A40W-08	CYP26B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251969.1	1	0	1	6	62	0	19		0	0	0	0	19	2		0	0	0	0	0	2	1	0.964076	6	60	0	19	2								-11.072270	1	1	121360	3	30	1	1	2	3	2.019003	0	0.110000	2.010000	0.119204	0.990000	0.690000	1.000000	1.000000	0.977793	0.990000	1	9.900000e-01	1
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1		PLXND1/TMCC1(4)	25					CTGCTGCTGCTGCAGCTCCAT	0.572000																								0							SO:0001583	missense			ENST00000393238.3	0	1	hg19	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	T	20.600000	4.009576	0.750460	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.160000	5.160000	0.708800	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.807220	D	1.000000	D;D	0.67145	0.996;0.985	D;D	0.85130	0.997;0.973	T	0.58278	-0.7664	10	0.33940	T	0.23	-18.4911	15.150900	0.726960	0.0:0.0:0.0:1.0	.	386;565	B4DE04;O94876	.;TMCC1_HUMAN	L	241;565;451;386	ENSP00000404711:Q241L;ENSP00000376930:Q565L;ENSP00000389892:Q451L;ENSP00000327349:Q386L	ENSP00000327349:Q386L	Q	-	2	0	TMCC1	130853282	1	0.714170	1.000000	0.803570	0.993000	0.825480	7.735000	0.849390	2.172000	0.686780	0.533000	0.621200	CAG		TCGA-2J-AABV-01A-12D-A40W-08	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	0	0	5	357	0	103	0	9.345472e-04	0	3	0	103	2		0	0	0	0	0	2	1	0.941025	5	364	0	106	2								-2.087114	0	1	0	0		1	0	0	0	1.980772	0	0.110000	2.010000	0.097088	0.260000	0.100000	0.530000	0.240000	0.287845	0.260000	0	1.600000e-01	4.000000e-01
C3orf58	205428	broad.mit.edu	37	3	143704424	143704424	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:143704424C>G	ENST00000315691.3	+	2	1232	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.L24V	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58			21					TGCAAAGTATCTTGGAGCTTG	0.393000																								0							SO:0001583	missense			ENST00000315691.3	1	1	hg19	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	C	14.570000	2.573485	0.459020	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452	T	0.36878	1.23	5.240000	4.370000	0.524810	.	0.000000	0.64402	D	0.000001	T	0.46698	0.1406	M	0.73217	2.22	0.807220	D	1.000000	P;D	0.56287	0.915;0.975	P;P	0.52957	0.596;0.714	T	0.45731	-0.9241	10	0.51188	T	0.08	.	8.733100	0.345120	0.0:0.7811:0.0:0.2189	.	24;233	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	V	233;24;39	ENSP00000320081:L233V	ENSP00000320081:L233V	L	+	1	0	C3orf58	145187114	1	0.714170	1.000000	0.803570	0.964000	0.639670	3.837000	0.558200	1.228000	0.436140	-0.136000	0.146810	CTT		TCGA-2J-AABV-01A-12D-A40W-08	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	0	0	0	13	596	0	206		0	0	0	0	206	2		0	0	0	0	0	2	1	0.999490	13	587	0	205	2								-2.616717	1	1	0	0		1	0	0	0	1.980772	0	0.110000	2.010000	0.097088	0.380000	0.210000	0.620000	0.370000	0.404387	0.380000	0	2.900000e-01	5.100000e-01
PPM1L	151742	broad.mit.edu	37	3	160783197	160783197	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:160783197C>T	ENST00000498165.1	+	3	682	c.581C>T	c.(580-582)aCg>aTg	p.T194M	PPM1L_ENST00000295839.9_Missense_Mutation_p.T67M|PPM1L_ENST00000464260.1_Missense_Mutation_p.T15M|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	p.T194K(1)|p.T15K(1)		13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)		TCAGGCACAACGTGTTTGATT	0.478000													Pancreas(86;250 1994 13715 43211)											2	Substitution - Missense(2)						SO:0001583	missense			ENST00000498165.1	0	1	hg19	CCDS33886.1	.	.	.	.	.	.	.	.	.	.	C	21.400000	4.144990	0.778880	.	.	ENSG00000163590	ENST00000498165;ENST00000464260;ENST00000295839	T;T;T	0.30981	1.51;1.51;1.51	5.120000	5.120000	0.697940	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.73377	0.3579	H	0.99011	4.4	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84979	0.0887	10	0.87932	D	0	.	17.723800	0.883590	0.0:1.0:0.0:0.0	.	67;194	Q5SGD2-3;Q5SGD2	.;PPM1L_HUMAN	M	194;15;67	ENSP00000417659:T194M;ENSP00000420746:T15M;ENSP00000295839:T67M	ENSP00000295839:T67M	T	+	2	0	PPM1L	162265891	1	0.714170	0.986000	0.454190	0.575000	0.360950	7.298000	0.788150	2.681000	0.913290	0.561000	0.740990	ACG		TCGA-2J-AABV-01A-12D-A40W-08	PPM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353019.1	0	0	0	9	415	0	151		0	0	0	0	151	2		0	0	0	0	0	2	1	0.993880	9	408	0	151	2								-3.103370	1	1	0	0		1	0	0	0	1.980772	0	0.110000	2.010000	0.097088	0.390000	0.190000	0.670000	0.370000	0.411480	0.390000	0	2.700000e-01	5.300000e-01
STAB1	23166	broad.mit.edu	37	3	52544021	52544021	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr3:52544021C>T	ENST00000321725.6	+	23	2559	c.2483C>T	c.(2482-2484)gCc>gTc	p.A828V		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1			76					ACAGGGCTGGCCCAGCACTGC	0.662000																								0							SO:0001583	missense			ENST00000321725.6	0	1	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	7.895000	0.733050	0.155070	.	.	ENSG00000010327	ENST00000321725	T	0.03124	4.04	4.700000	4.700000	0.593000	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.456341	0.21799	N	0.068955	T	0.03520	0.0101	L	0.38838	1.175	0.319540	N	0.609253	P	0.46142	0.873	B	0.35931	0.214	T	0.39418	-0.9615	10	0.11182	T	0.66	.	17.436900	0.875550	0.0:1.0:0.0:0.0	.	828	Q9NY15	STAB1_HUMAN	V	828	ENSP00000312946:A828V	ENSP00000312946:A828V	A	+	2	0	STAB1	52519061	5.180000e-01	0.262340	0.857000	0.337130	0.553000	0.353970	3.120000	0.504300	2.447000	0.827920	0.655000	0.942530	GCC		TCGA-2J-AABV-01A-12D-A40W-08	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	0	0	0	5	369	0	94		0	0	0	0	94	2		0	0	0	0	0	2	1	0.936165	5	365	0	93	2								-2.631695	1	1	0	0		1	0	0	0	1.980772	0	0.110000	2.010000	0.097088	0.250000	0.090000	0.510000	0.230000	0.278893	0.250000	0	1.600000e-01	3.800000e-01
ANKRD50	57182	broad.mit.edu	37	4	125599973	125599973	+	Silent	SNP	A	A	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:125599973A>T	ENST00000504087.1	-	3	1637	c.600T>A	c.(598-600)atT>atA	p.I200I	ANKRD50_ENST00000515641.1_Silent_p.I21I	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50			55					CACCTTCAGTAATGTTACACC	0.453000																								0							SO:0001819	synonymous_variant			ENST00000504087.1	1	1	hg19	CCDS34060.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	0	0	0	18	589	0	213		0	0	0	0	213	2		0	0	0	0	0	2	1	0.999981	18	585	0	209	2								-15.643040	1	1	0	0		1	1	2	3	2.006263	0	0.110000	2.010000	0.116801	0.570000	0.340000	1.000000	0.530000	0.613018	0.570000	0	4.400000e-01	7.800000e-01
DCAF4L1	285429	broad.mit.edu	37	4	41984668	41984668	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:41984668G>A	ENST00000333141.5	+	1	956	c.859G>A	c.(859-861)Gca>Aca	p.A287T		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1			37					ATGCCTGATGGCATCAGACAT	0.532000																								0							SO:0001583	missense			ENST00000333141.5	0	1	hg19	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	G	13.660000	2.303230	0.407950	.	.	ENSG00000182308	ENST00000333141	T	0.67171	-0.25	0.970000	0.970000	0.196920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.100771	0.64402	D	0.000002	T	0.59770	0.2218	M	0.63843	1.955	0.360940	D	0.843670	P	0.49961	0.93	B	0.43575	0.424	T	0.66015	-0.6028	10	0.46703	T	0.11	.	7.746900	0.288750	1.0E-4:0.0:0.9999:0.0	.	287	Q3SXM0	DC4L1_HUMAN	T	287	ENSP00000327796:A287T	ENSP00000327796:A287T	A	+	1	0	DCAF4L1	41679425	1	0.714170	0.144000	0.223140	0.696000	0.403690	4.160000	0.581640	0.821000	0.345400	0.313000	0.208870	GCA		TCGA-2J-AABV-01A-12D-A40W-08	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	0	0	0	6	485	0	128		0	0	0	0	128	2		0	0	0	0	0	2	1	0.964052	6	480	0	127	2								-3.019343	1	1	0	0		1	1	2	3	2.006263	0	0.110000	2.010000	0.116801	0.250000	0.100000	1.000000	0.220000	0.339165	0.250000	0	1.600000e-01	4.300000e-01
ACOX3	8310	broad.mit.edu	37	4	8368698	8368698	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:8368698G>A	ENST00000356406.5	-	18	2170	c.2093C>T	c.(2092-2094)tCg>tTg	p.S698L	ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000503233.1_Missense_Mutation_p.S698L|ACOX3_ENST00000413009.2_3'UTR	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl			42					CTAGAGCTTCGATTTCAGACT	0.517000																								0							SO:0001583	missense			ENST00000356406.5	0	1	hg19	CCDS3401.1	.	.	.	.	.	.	.	.	.	.	G	18.320000	3.598931	0.663320	.	.	ENSG00000087008	ENST00000356406;ENST00000503233	D;D	0.93247	-3.19;-3.19	5.160000	5.160000	0.708800	.	0.535944	0.17481	N	0.172735	D	0.92984	0.7767	M	0.76574	2.34	0.240150	N	0.996166	D	0.61697	0.99	B	0.42188	0.379	D	0.88987	0.3412	10	0.87932	D	0	1.4088	16.152900	0.816340	0.0:0.0:1.0:0.0	.	698	O15254	ACOX3_HUMAN	L	698	ENSP00000348775:S698L;ENSP00000421625:S698L	ENSP00000348775:S698L	S	-	2	0	ACOX3	8419598	9.480000e-01	0.322510	0.037000	0.182300	0.026000	0.113680	7.092000	0.769300	2.411000	0.818740	0.655000	0.942530	TCG		TCGA-2J-AABV-01A-12D-A40W-08	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4	0	0	0	8	416	1	132	1	4.989540e-02	4	33	1	132	3		0	0	0	0	0	2	0	0.181238	9	411	1	131	13								-2.794449	1	1	121412	9	43	1	1	2	3	2.006263	0	0.110000	2.010000	0.116801	0.380000	0.170000	1.000000	0.340000	0.449359	0.380000	0	2.600000e-01	6.000000e-01
GRID2	2895	broad.mit.edu	37	4	93511323	93511323	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:93511323T>C	ENST00000282020.4	+	2	388	c.130T>C	c.(130-132)Ttt>Ctt	p.F44L	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.F44L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2			100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)			TGATGAGGTATTTCGCACTGC	0.383000																								0							SO:0001583	missense			ENST00000282020.4	0	1	hg19	CCDS3637.1	.	.	.	.	.	.	.	.	.	.	T	22.000000	4.232293	0.796880	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	D;D	0.85411	-1.7;-1.98	5.830000	5.830000	0.931110	Extracellular ligand-binding receptor (1);	0.370342	0.23413	N	0.048445	D	0.88683	0.6503	L	0.34521	1.04	0.375050	D	0.916902	P;D	0.57257	0.924;0.979	P;D	0.74023	0.878;0.982	D	0.91209	0.4997	10	0.87932	D	0	.	16.194000	0.820110	0.0:0.0:0.0:1.0	.	44;44	E9PH24;O43424	.;GRID2_HUMAN	L	44	ENSP00000282020:F44L;ENSP00000421257:F44L	ENSP00000282020:F44L	F	+	1	0	GRID2	93730346	1	0.714170	1.000000	0.803570	0.988000	0.763860	8.040000	0.891880	2.225000	0.725220	0.460000	0.390300	TTT		TCGA-2J-AABV-01A-12D-A40W-08	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253588.2	0	0	0	6	420	0	136		0	0	0	0	136	2		0	0	0	0	0	2	1	0.964194	6	416	0	136	2								-3.329976	1	1	0	0		1	1	2	3	2.006263	0	0.110000	2.010000	0.116801	0.290000	0.110000	1.000000	0.250000	0.373102	0.290000	0	1.800000e-01	4.900000e-01
PDHA2	5161	broad.mit.edu	37	4	96762083	96762083	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr4:96762083G>A	ENST00000295266.4	+	1	845	c.782G>A	c.(781-783)cGt>cAt	p.R261H		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2			46		Hepatocellular(203;0.114)			CTGTGTGTTCGTGAGGCAACA	0.473000																								0							SO:0001583	missense			ENST00000295266.4	0	1	hg19	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	G	18.490000	3.635923	0.671300	.	.	ENSG00000163114	ENST00000295266	D	0.95885	-3.84	4.910000	4.060000	0.473250	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96346	0.8808	L	0.53561	1.675	0.530050	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	D	0.95644	0.8701	10	0.87932	D	0	-18.3149	11.073400	0.480160	0.0921:0.0:0.9079:0.0	.	261	P29803	ODPAT_HUMAN	H	261	ENSP00000295266:R261H	ENSP00000295266:R261H	R	+	2	0	PDHA2	96981106	8.480000e-01	0.296230	0.782000	0.318040	0.637000	0.381720	4.724000	0.619720	2.733000	0.936350	0.467000	0.429560	CGT		TCGA-2J-AABV-01A-12D-A40W-08	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1	0	0	0	5	237	0	87		0	0	0	0	87	2		0	0	0	0	0	2	1	0.937506	6	235	0	86	2								-6.117036	1	1	121412	1	30	1	1	2	3	2.006263	0	0.110000	2.010000	0.116801	0.430000	0.160000	1.000000	0.360000	0.498924	0.430000	0	2.700000e-01	7.500000e-01
PCDHA1	56147	broad.mit.edu	37	5	140167494	140167494	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:140167494C>T	ENST00000504120.2	+	1	1619	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A540V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1			70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		GCGCGGGATGCGGGCGTGCCG	0.682000																								0							SO:0001583	missense			ENST00000504120.2	1	1	hg19	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	c	18.400000	3.615636	0.666720	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.53857	0.6;0.6	3.490000	3.490000	0.399570	Cadherin (4);Cadherin-like (1);	0.404731	0.17581	U	0.169114	T	0.62575	0.2439	L	0.53617	1.68	0.310410	N	0.716350	D;D	0.67145	0.995;0.996	P;P	0.56343	0.783;0.796	T	0.68697	-0.5340	10	0.87932	D	0	.	15.405400	0.748740	0.0:1.0:0.0:0.0	.	540;540	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	540	ENSP00000420840:A540V;ENSP00000367373:A540V	ENSP00000367373:A540V	A	+	2	0	PCDHA1	140147678	4.620000e-01	0.257910	0.953000	0.391690	0.396000	0.306290	0.881000	0.281730	1.676000	0.509300	0.549000	0.686330	GCG		TCGA-2J-AABV-01A-12D-A40W-08	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	1	0	0	23	518	0	171		0	0	0	0	171	2		0	0	0	0	0	2	1	0.999999	23	512	0	176	2								-3.673474	1	1	0	0		1	1	2	3	2.000113	0	0.110000	2.010000	0.115352	0.800000	0.510000	1.000000	1.000000	0.806241	0.800000	0	6.400000e-01	1
ADAMTS2	9509	broad.mit.edu	37	5	178562924	178562924	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:178562924G>A	ENST00000251582.7	-	13	2172	c.2071C>T	c.(2071-2073)Cgc>Tgc	p.R691C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2			72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		CAGTCCCCGCGCACACAGAGG	0.637000																								0							SO:0001583	missense			ENST00000251582.7	0	1	hg19	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	G	19.280000	3.797583	0.705670	.	.	ENSG00000087116	ENST00000251582	T	0.69175	-0.38	5.370000	5.370000	0.771650	.	0.000000	0.56097	D	0.000034	D	0.83440	0.5255	M	0.88704	2.975	0.807220	D	1.000000	D	0.89917	1.0	D	0.68192	0.956	D	0.86425	0.1757	10	0.72032	D	0.01	.	14.603800	0.684630	0.0:0.0:0.8538:0.1462	.	691	O95450	ATS2_HUMAN	C	691	ENSP00000251582:R691C	ENSP00000251582:R691C	R	-	1	0	ADAMTS2	178495530	1	0.714170	0.999000	0.593770	0.548000	0.352410	5.446000	0.666000	2.521000	0.849970	0.462000	0.415740	CGC		TCGA-2J-AABV-01A-12D-A40W-08	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	0	0	0	7	244	0	71	0	1.120413e-03	0	2	0	71	2		0	0	0	0	0	2	1	0.980473	7	242	0	70	2								-8.008599	1	1	121392	1	28	1	1	2	3	2.000113	0	0.110000	2.010000	0.115352	0.550000	0.240000	1.000000	1.000000	0.597372	0.550000	0	3.700000e-01	8.500000e-01
CDH10	1008	broad.mit.edu	37	5	24511502	24511502	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:24511502G>T	ENST00000264463.4	-	6	1443	c.936C>A	c.(934-936)gaC>gaA	p.D312E		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)			185					TATCAGTACCGTCACCATCAA	0.438000										HNSCC(23;0.051)														0							SO:0001583	missense			ENST00000264463.4	1	1	hg19	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	13.150000	2.151750	0.380210	.	.	ENSG00000040731	ENST00000264463	T	0.01685	4.69	5.220000	1.400000	0.223010	Cadherin (4);Cadherin-like (1);	0.049789	0.85682	D	0.000000	T	0.03220	0.0094	L	0.35723	1.085	0.350510	D	0.760673	P	0.42203	0.773	P	0.52856	0.711	T	0.53655	-0.8408	10	0.33940	T	0.23	.	8.807200	0.349450	0.7795:0.0:0.2205:0.0	.	312	Q9Y6N8	CAD10_HUMAN	E	312	ENSP00000264463:D312E	ENSP00000264463:D312E	D	-	3	2	CDH10	24547259	9.960000e-01	0.388240	0.987000	0.457990	0.607000	0.371470	0.495000	0.224830	0.004000	0.146820	-0.247000	0.119270	GAC		TCGA-2J-AABV-01A-12D-A40W-08	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	0	0	0	13	612	0	201		0	0	0	0	201	2		0	0	0	0	0	2	1	0.999474	12	602	0	201	2								-2.536928	1	1	0	0		1	1	2	3	2.000113	0	0.110000	2.010000	0.115352	0.400000	0.210000	1.000000	0.380000	0.456447	0.400000	0	2.900000e-01	5.600000e-01
RICTOR	253260	broad.mit.edu	37	5	38954899	38954899	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr5:38954899C>T	ENST00000357387.3	-	27	2704	c.2674G>A	c.(2674-2676)Ggc>Agc	p.G892S	RICTOR_ENST00000296782.5_Missense_Mutation_p.G892S|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2			75	all_lung(31;0.000396)				AAATGGCAGCCTGTTTTATGG	0.313000																								0							SO:0001583	missense			ENST00000357387.3	1	1	hg19	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	35.000000	5.531120	0.964460	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.66460	-0.21;-0.17	5.790000	5.790000	0.918170	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84356	0.5454	M	0.84219	2.685	0.807220	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	D	0.85682	0.1301	10	0.87932	D	0	-9.9909	20.030800	0.975360	0.0:1.0:0.0:0.0	.	892;892	Q6R327;Q6R327-3	RICTR_HUMAN;.	S	892	ENSP00000349959:G892S;ENSP00000296782:G892S	ENSP00000296782:G892S	G	-	1	0	RICTOR	38990656	1	0.714170	1.000000	0.803570	0.961000	0.630800	6.707000	0.746540	2.732000	0.935760	0.585000	0.799380	GGC		TCGA-2J-AABV-01A-12D-A40W-08	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1	0	0	0	13	525	0	215		0	0	0	0	215	2		0	0	0	0	0	2	1	0.999454	13	511	0	214	2								-3.271765	1	1	0	0		1	1	2	3	2.000113	0	0.110000	2.010000	0.115352	0.460000	0.250000	1.000000	0.440000	0.514798	0.460000	0	3.400000e-01	6.500000e-01
KIAA0408	9729	broad.mit.edu	37	6	127768717	127768717	+	Silent	SNP	C	C	T			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:127768717C>T	ENST00000483725.3	-	5	1083	c.747G>A	c.(745-747)acG>acA	p.T249T	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408			28					CACATTTTTTCGTAGAATTGC	0.388000																								0							SO:0001819	synonymous_variant			ENST00000483725.3	1	1	hg19	CCDS34531.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	0	0	0	14	444	0	145		0	0	0	0	145	2		0	0	0	0	0	2	1	0.999739	14	438	0	144	2								-2.927072	1	1	121412	39	48	1	1	2	3	2.008671	0	0.110000	2.010000	0.117282	0.590000	0.330000	1.000000	0.550000	0.636388	0.590000	0	4.400000e-01	8.600000e-01
HIST1H2BE	8344	broad.mit.edu	37	6	26184216	26184216	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr6:26184216T>G	ENST00000356530.3	+	1	259	c.193T>G	c.(193-195)Tcc>Gcc	p.S65A		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be			4					GATCATGAATTCCTTTGTCAA	0.587000																								0							SO:0001583	missense			ENST00000356530.3	0	1	hg19	CCDS4588.1	.	.	.	.	.	.	.	.	.	.	.	15.080000	2.725694	0.488330	.	.	ENSG00000197697	ENST00000356530	T	0.67171	-0.25	4.960000	4.960000	0.655610	.	0.000000	0.30732	U	0.008990	T	0.70745	0.3259	.	.	.	0.400500	D	0.975766	.	.	.	.	.	.	T	0.76337	-0.2996	7	0.87932	D	0	.	13.793700	0.631570	0.0:0.0:0.0:1.0	.	.	.	.	A	65	ENSP00000348924:S65A	ENSP00000348924:S65A	S	+	1	0	HIST1H2BE	26292195	1	0.714170	1.000000	0.803570	0.022000	0.105750	7.612000	0.829750	2.005000	0.587580	0.438000	0.288310	TCC		TCGA-2J-AABV-01A-12D-A40W-08	HIST1H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040090.1	0	0	0	10	842	0	275		0	0	0	0	275	2		0	0	0	0	0	2	1	0.996495	10	822	0	272	2								-3.318819	1	1	0	0		1	0	0	0	1.956692	0	0.110000	2.010000	0.085867	0.210000	0.100000	0.360000	0.210000	0.225164	0.210000	0	1.500000e-01	2.900000e-01
MLXIPL	51085	broad.mit.edu	37	7	73008307	73008307	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr7:73008307A>G	ENST00000313375.3	-	17	2494	c.2447T>C	c.(2446-2448)cTg>cCg	p.L816P	MLXIPL_ENST00000429400.2_Missense_Mutation_p.L797P|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L795P|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L814P|MLXIPL_ENST00000395189.1_Missense_Mutation_p.L723P|MLXIPL_ENST00000434326.1_3'UTR	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like			13		Lung NSC(55;0.0659)|all_lung(88;0.152)			TAGGGAGTTCAGGACAGCTGG	0.607000																								0							SO:0001583	missense			ENST00000313375.3	0	1	hg19	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	A	17.710000	3.457595	0.634010	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189	T;T;T;T;T	0.33865	2.03;2.05;2.02;2.06;1.39	4.610000	3.410000	0.390460	.	0.343732	0.23567	N	0.046791	T	0.54598	0.1868	M	0.70595	2.14	0.536880	D	0.999972	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.83275	0.946;0.976;0.996;0.996	T	0.54437	-0.8294	10	0.87932	D	0	-16.4415	7.976300	0.301570	0.7918:0.2082:0.0:0.0	.	816;797;814;795	Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	MLXPL_HUMAN;.;.;.	P	814;797;816;795;723	ENSP00000412330:L814P;ENSP00000406296:L797P;ENSP00000320886:L816P;ENSP00000346629:L795P;ENSP00000378616:L723P	ENSP00000320886:L816P	L	-	2	0	MLXIPL	72646243	1	0.714170	0.996000	0.522420	0.836000	0.474000	8.527000	0.905940	0.756000	0.330130	0.459000	0.354650	CTG		TCGA-2J-AABV-01A-12D-A40W-08	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	0	0	0	5	165	0	50	0	1.589293e-01	0	20	0	50	2		0	0	0	0	0	2	1	0.937512	5	164	0	49	2								-7.229408	1	0	0	0		1	1	2	3	2.014239	0	0.110000	2.010000	0.118244	0.620000	0.230000	1.000000	1.000000	0.654045	0.620000	0	3.800000e-01	1
RGS22	26166	broad.mit.edu	37	8	101083654	101083654	+	Silent	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:101083654A>G	ENST00000360863.6	-	6	731	c.537T>C	c.(535-537)ccT>ccC	p.P179P	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Silent_p.P179P	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22		RGS22/SYCP1(2)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		CTTCAGTGGCAGGAGGTGGTA	0.398000																								0							SO:0001819	synonymous_variant			ENST00000360863.6	0	1	hg19	CCDS43758.1																																																																																				TCGA-2J-AABV-01A-12D-A40W-08	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	0	0	0	8	419	0	111		0	0	0	0	111	2		0	0	0	0	0	2	1	0.988561	8	410	0	110	2								-3.065320	1	1	0	0		1	1	2	3	2.058916	0	0.110000	2.010000	0.128220	0.410000	0.170000	1.000000	0.340000	0.523814	0.410000	0	2.700000e-01	1
FAM167A	83648	broad.mit.edu	37	8	11301851	11301851	+	Missense_Mutation	SNP	C	C	T	rs146121515		TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chr8:11301851C>T	ENST00000528897.1	-	2	689	c.70G>A	c.(70-72)Gat>Aat	p.D24N	FAM167A_ENST00000534308.1_Missense_Mutation_p.D24N|FAM167A_ENST00000284486.4_Missense_Mutation_p.D24N|FAM167A_ENST00000531564.1_5'Flank			Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A			9					AGGTGGTCATCGGGTGGTGCG	0.647000																								0							SO:0001583	missense			ENST00000528897.1	1	1	hg19	CCDS5981.1	.	.	.	.	.	.	.	.	.	.	C	25.600000	4.656138	0.880560	2.27E-4	1.16E-4	ENSG00000154319	ENST00000284486;ENST00000534308;ENST00000528897;ENST00000531804	T;T;T;T	0.08634	3.07;3.07;3.07;3.07	5.340000	4.470000	0.543850	.	0.000000	0.85682	D	0.000000	T	0.11495	0.0280	M	0.64997	1.995	0.584320	D	0.999995	D	0.62365	0.991	B	0.41174	0.349	T	0.03717	-1.1010	10	0.72032	D	0.01	-31.7921	13.204200	0.597870	0.0:0.9239:0.0:0.0761	.	24	Q96KS9	F167A_HUMAN	N	24	ENSP00000284486:D24N;ENSP00000432232:D24N;ENSP00000436655:D24N;ENSP00000431951:D24N	ENSP00000284486:D24N	D	-	1	0	FAM167A	11339261	1	0.714170	0.187000	0.232140	0.104000	0.192100	5.466000	0.667310	1.499000	0.486170	-0.136000	0.146810	GAT		TCGA-2J-AABV-01A-12D-A40W-08	FAM167A-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000383901.1	1	0	1	193	768	0	163		0	0	0	0	163	2		0	0	0	0	0	2	1	1.000000	185	752	0	157	2								-3.654621	1	1	121404	11	45	1						0.110000	2.010000									0	0
TBX22	50945	broad.mit.edu	37	X	79282761	79282761	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABV-01A-12D-A40W-08	TCGA-2J-AABV-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25d7033a-dee7-4246-bad5-bf3b9a9f5ebf	0083afb4-809b-4702-928e-69541aa23d2f	g.chrX:79282761A>G	ENST00000373294.5	+	6	833	c.805A>G	c.(805-807)Aaa>Gaa	p.K269E	TBX22_ENST00000373296.3_Missense_Mutation_p.K269E|TBX22_ENST00000442340.1_Missense_Mutation_p.K149E|TBX22_ENST00000373291.1_Missense_Mutation_p.K149E	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22			65					ATAGATTACGAAACTAAAAAT	0.348000																								0							SO:0001583	missense			ENST00000373294.5	1	1	hg19	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	A	17.840000	3.487256	0.639620	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58	3.750000	3.750000	0.430780	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	L	0.58810	1.83	0.584320	D	0.999995	D	0.76494	0.999	D	0.72338	0.977	D	0.92101	0.5688	10	0.72032	D	0.01	.	10.830700	0.466590	1.0:0.0:0.0:0.0	.	269	Q9Y458	TBX22_HUMAN	E	269;149;269;149	ENSP00000362393:K269E;ENSP00000396394:K149E;ENSP00000362390:K269E;ENSP00000362388:K149E	ENSP00000362388:K149E	K	+	1	0	TBX22	79169417	1	0.714170	0.998000	0.565050	0.691000	0.401730	6.266000	0.725400	1.495000	0.485490	0.486000	0.481410	AAA		TCGA-2J-AABV-01A-12D-A40W-08	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	1	0	0	7	111	0	47		0	0	0	0	47	2		0	0	0	0	0	2	1	0.979870	6	109	0	46	2								-4.579968	1	1	0	0		1	0	1	1			0.110000	2.010000	0.110000	0.530000	0.240000	0.890000	0.510000	0.553838	0.530000	0	3.700000e-01	7.300000e-01
