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
MLXIP	22877	broad.mit.edu	37	12	122623025	122623025	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr12:122623025C>A	ENST00000319080.7	+	14	2443	c.2311C>A	c.(2311-2313)Cag>Aag	p.Q771K	MLXIP_ENST00000538698.1_Missense_Mutation_p.Q378K					MLX interacting protein			20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)			CAAGCTGCAGCAGGAGAGAGG	0.627000													Esophageal Squamous(105;787 1493 16200 18566 52466)											0							SO:0001583	missense			ENST00000319080.7	0	1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.385722|5.385722	0.95967|0.95967	.|.	.|.	ENSG00000175727|ENSG00000175727	ENST00000319080;ENST00000538698;ENST00000366272|ENST00000542417	D;D;D|.	0.98345|.	-4.88;-4.88;-4.88|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Helix-loop-helix DNA-binding (3);|.	0.057709|.	0.64402|.	D|.	0.000001|.	T|T	0.74313|0.74313	0.3700|0.3700	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.55605|.	0.972|.	P|.	0.49799|.	0.622|.	T|T	0.73978|0.73978	-0.3812|-0.3812	9|4	0.27785|.	T|.	0.31|.	-21.0894|-21.0894	18.3685|18.3685	0.90399|0.90399	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	771|.	Q9HAP2|.	MLXIP_HUMAN|.	K|R	771;378;242|106	ENSP00000312834:Q771K;ENSP00000440769:Q378K;ENSP00000445891:Q242K|.	ENSP00000312834:Q771K|.	Q|S	+|+	1|3	0|2	MLXIP|MLXIP	121188978|121188978	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.634000|7.634000	0.83273|0.83273	2.329000|2.329000	0.79093|0.79093	0.561000|0.561000	0.74099|0.74099	CAG|AGC		TCGA-HZ-A77O-01A-11D-A33T-08	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	0	0	0	6	223	0	56	0	3.371526e-01	0	40	0	56	2		0	0	0	0	0	2	0	0.961555	0	221	0	56	2		0	0	0	0	56	2	-7.474573	1	0	0	0		1	0	1	1	1.804974	1	0.500000	1.610000	0.348534	0.080000	0.030000	0.160000	0.080000	0.092275	0.080000	0	0.050000	0.120000
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	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	0	1	hg19	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		TCGA-HZ-A77O-01A-11D-A33T-08	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	27	110	0	11	1	8.185388e-01	7	8	0	11	2	1	1	103	448	0	432	2	1	1.000000	27	110	0	11	2	1	1	2103	5919	0	11	2	-18.198800	1	1	0	0		1	2	2	4	2.439058	1	0.500000	1.610000	0.545455	0.900000	0.610000	1.000000	1.000000	0.882752	0.900000	1	0.740000	1.000000
CDH11	1009	broad.mit.edu	37	16	65005912	65005912	+	Silent	SNP	G	G	A	rs146549125	byFrequency	TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr16:65005912G>A	ENST00000268603.4	-	10	2061	c.1446C>T	c.(1444-1446)aaC>aaT	p.N482N	CDH11_ENST00000394156.3_Silent_p.N482N|CDH11_ENST00000566827.1_Silent_p.N356N	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)			88		Ovarian(137;0.0973)			GAGCATTATCGTTGACATCAA	0.473000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)					Dom	yes		16	16q22.1	1009	cadherin 11, type 2, OB-cadherin (osteoblast)		M	0							SO:0001819	synonymous_variant			ENST00000268603.4	1	0	hg19	CCDS10803.1																																																																																				TCGA-HZ-A77O-01A-11D-A33T-08	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	1	0	1	54	181	0	41	1	1	28	79	0	41	2		0	0	0	0	0	2	1	1.000000	54	180	0	39	2		0	0	0	0	41	2	-2.861719	1	1	121412	112	52	1	0	0	0	2.201616	0	0.500000	1.610000	0.497487	0.910000	0.710000	1.000000	1.000000	0.904510	0.910000	1	0.800000	1.000000
FOXN1	8456	broad.mit.edu	37	17	26851719	26851719	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:26851719G>A	ENST00000226247.2	+	2	351	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FOXN1_ENST00000579795.1_Missense_Mutation_p.A108T	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1			19	Lung NSC(42;0.00431)				TGAGGAGGCCGCAGCAAGCAG	0.667000																								0							SO:0001583	missense			ENST00000226247.2	0	1	hg19	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775438	0.49786	.	.	ENSG00000109101	ENST00000226247	D	0.91894	-2.93	5.49	0.553	0.17235	.	0.444607	0.23141	N	0.051470	T	0.76969	0.4062	N	0.04508	-0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.63479	-0.6628	10	0.18276	T	0.48	.	6.5115	0.22224	0.117:0.3429:0.4602:0.0799	.	108	O15353	FOXN1_HUMAN	T	108	ENSP00000226247:A108T	ENSP00000226247:A108T	A	+	1	0	FOXN1	23875846	0.002000	0.14202	0.082000	0.20525	0.786000	0.44442	-0.092000	0.11129	0.034000	0.15491	-1.168000	0.01747	GCA		TCGA-HZ-A77O-01A-11D-A33T-08	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1	0	0	0	4	166	0	33		0	0	0	0	33	2		0	0	0	0	0	2	1	0.888532	4	164	0	33	2		0	0	0	0	33	2	-3.699163	1	1	121308	2	33	1	0	0	0	2.148278	0	0.500000	1.610000	0.484536	0.090000	0.020000	0.220000	0.090000	0.112085	0.090000	0	0.050000	0.160000
EVI2A	2123	broad.mit.edu	37	17	29646024	29646024	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:29646024G>A	ENST00000462804.2	-	2	407	c.8C>T	c.(7-9)aCg>aTg	p.T3M	EVI2A_ENST00000461237.1_Missense_Mutation_p.T3M|NF1_ENST00000581113.2_Intron|NF1_ENST00000358273.4_Intron|EVI2A_ENST00000247270.3_Missense_Mutation_p.T26M|NF1_ENST00000356175.3_Intron|CTD-2370N5.3_ENST00000578584.1_5'Flank	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	p.0?(8)|p.?(3)		14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)			TTCCATGTCCGTGGGCATGCT	0.383000																								11	Whole gene deletion(8)|Unknown(3)						SO:0001583	missense			ENST00000462804.2	0	1	hg19	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	3.420	-0.118278	0.06838	.	.	ENSG00000126860	ENST00000394755;ENST00000461237;ENST00000247270	.	.	.	5.6	-4.93	0.03066	.	0.975316	0.08382	N	0.954343	T	0.15392	0.0371	N	0.14661	0.345	0.09310	N	0.999999	B;B	0.12013	0.003;0.005	B;B	0.11329	0.002;0.006	T	0.28299	-1.0048	9	0.17832	T	0.49	.	4.1869	0.10402	0.3857:0.1046:0.414:0.0957	.	3;26	P22794;P22794-2	EVI2A_HUMAN;.	M	3;3;26	.	ENSP00000247270:T26M	T	-	2	0	EVI2A	26670150	0.000000	0.05858	0.001000	0.08648	0.507000	0.33981	-0.955000	0.03869	-0.659000	0.05359	-0.238000	0.12139	ACG		TCGA-HZ-A77O-01A-11D-A33T-08	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	0	0	0	17	1102	0	189	0	4.183408e-02	0	20	0	189	2		0	0	0	0	0	2	1	0.999962	17	1094	0	188	2		0	0	0	0	189	2	-2.523381	1	1	121410	2	40	1	0	0	0	2.148278	0	0.500000	1.610000	0.484536	0.050000	0.020000	0.090000	0.060000	0.062290	0.050000	0	0.040000	0.080000
KRT13	3860	broad.mit.edu	37	17	39661661	39661661	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:39661661C>T	ENST00000246635.3	-	1	188	c.142G>A	c.(142-144)Ggc>Agc	p.G48S	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_Missense_Mutation_p.G48S|KRT13_ENST00000587118.1_5'Flank|KRT13_ENST00000587544.1_Missense_Mutation_p.G48S	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13			33		Breast(137;0.000286)			cAGCTCACGCCGCCTCCATAG	0.622000																								0							SO:0001583	missense			ENST00000246635.3	0	1	hg19	CCDS11396.1	.	.	.	.	.	.	.	.	.	.	C	0.280	-0.987263	0.02180	.	.	ENSG00000171401	ENST00000246635;ENST00000336861;ENST00000157775	D;D	0.89485	-2.52;-2.52	4.82	4.82	0.62117	.	0.134022	0.33457	N	0.004886	T	0.76586	0.4008	L	0.35341	1.055	0.09310	N	1	P;P;P	0.42871	0.697;0.697;0.792	B;B;B	0.32624	0.11;0.11;0.149	T	0.67795	-0.5578	10	0.07813	T	0.8	.	9.3512	0.38140	0.0:0.8545:0.0:0.1455	.	48;48;48	P13646-2;P13646-3;P13646	.;.;K1C13_HUMAN	S	48	ENSP00000246635:G48S;ENSP00000336604:G48S	ENSP00000157775:G48S	G	-	1	0	KRT13	36915187	0.006000	0.16342	0.312000	0.25196	0.027000	0.11550	0.771000	0.26633	2.509000	0.84616	0.655000	0.94253	GGC		TCGA-HZ-A77O-01A-11D-A33T-08	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257297.1	0	0	0	9	358	0	58	0	4.216559e-01	1	53	0	58	2		0	0	0	0	0	2	1	0.993916	10	351	0	57	2		0	0	0	0	58	2	-3.167486	1	1	121412	4	34	1	0	0	0	2.136844	0	0.500000	1.610000	0.481865	0.090000	0.040000	0.170000	0.090000	0.104297	0.090000	0	0.060000	0.140000
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr17:7578550G>A	ENST00000269305.4	-	5	569	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000445888.2_Missense_Mutation_p.S127F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000420246.2_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F	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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	GAGGGCAGGGGAGTACTGTAG	0.552000		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	73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(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	1	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338648	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4;-8.4	5.48	4.51	0.55191	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	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127F;ENSP00000352610:S127F;ENSP00000269305:S127F;ENSP00000398846:S127F;ENSP00000391127:S127F;ENSP00000391478:S127F;ENSP00000423862:S34F;ENSP00000424104:S127F;ENSP00000426252:S127F	ENSP00000269305:S127F	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		TCGA-HZ-A77O-01A-11D-A33T-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	0	58	104	0	32	1	1	47	30	0	32	2	1	1	510	968	1	1642	6	1	1.000000	58	103	0	32	2		0	0	0	0	32	2	-20.000000	1	1	0	0		1	0	1	1	1.694530	1	0.500000	1.610000	0.333333	0.940000	0.800000	1.000000	0.990000	0.937133	0.940000	1	0.870000	0.990000
MEGF8	1954	broad.mit.edu	37	19	42862961	42862961	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:42862961G>A	ENST00000251268.6	+	30	5198	c.5198G>A	c.(5197-5199)cGt>cAt	p.R1733H	MEGF8_ENST00000334370.4_Missense_Mutation_p.R1666H	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8			50		Prostate(69;0.00682)			AGGAATGTGCGTGGCTCATCT	0.612000																								0							SO:0001583	missense			ENST00000251268.6	1	1	hg19		.	.	.	.	.	.	.	.	.	.	G	4.386	0.071245	0.08436	2.27E-4	0.0	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	2.71	0.483	0.16820	Galactose oxidase/kelch, beta-propeller (1);	.	.	.	.	T	0.06735	0.0172	N	0.08118	0	0.09310	N	1	P;B	0.36660	0.564;0.127	B;B	0.26517	0.03;0.07	T	0.27706	-1.0066	9	0.21540	T	0.41	1.3309	3.1445	0.06467	0.1486:0.0:0.5888:0.2626	.	1733;1666	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	H	1666;1733	ENSP00000334219:R1666H;ENSP00000251268:R1733H	ENSP00000251268:R1733H	R	+	2	0	MEGF8	47554801	0.001000	0.12720	0.000000	0.03702	0.088000	0.18126	0.661000	0.25023	0.208000	0.20626	0.462000	0.41574	CGT		TCGA-HZ-A77O-01A-11D-A33T-08	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	1	0	1	20	68	0	15	0	1.410256e-01	1	2	0	15	2		0	0	0	0	0	2	1	0.999998	20	67	0	15	2		0	0	0	0	15	2	-20.000000	1	1	121336	3	30	1	0	0	0	2.132825	0	0.500000	1.610000	0.479167	0.870000	0.570000	1.000000	1.000000	0.858851	0.870000	1	0.710000	1.000000
GLTSCR2	29997	broad.mit.edu	37	19	48259965	48259965	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr19:48259965T>G	ENST00000246802.5	+	12	1432	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G	SNORD23_ENST00000408876.1_RNA|CTD-2571L23.6_ENST00000602048.1_RNA|GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2			15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)			AAGTACAAGGTGAAGCTGGTG	0.657000													Colon(58;613 1041 9473 10089 15241)											0							SO:0001583	missense			ENST00000246802.5	1	1	hg19	CCDS12705.1	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879942	0.72294	.	.	ENSG00000105373	ENST00000246802;ENST00000325566;ENST00000446535	T	0.33438	1.41	4.79	3.73	0.42828	.	0.221650	0.37393	N	0.002114	T	0.35158	0.0922	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.16867	-1.0388	10	0.87932	D	0	-26.9135	8.437	0.32793	0.0:0.0:0.1978:0.8022	.	465	Q9NZM5	GSCR2_HUMAN	G	465;459;250	ENSP00000246802:V465G	ENSP00000246802:V465G	V	+	2	0	GLTSCR2	52951777	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.128000	0.50492	0.918000	0.36919	0.533000	0.62120	GTG		TCGA-HZ-A77O-01A-11D-A33T-08	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	1	0	1	49	227	0	37	1	1	184	935	0	37	2		0	0	0	0	0	2	1	1.000000	49	223	0	37	2		0	0	0	0	37	2	-20.000000	1	1	0	0		1	0	0	0	2.132825	0	0.500000	1.610000	0.479167	0.670000	0.510000	0.850000	0.680000	0.687921	0.670000	0	0.590000	0.770000
ADAMTS4	9507	broad.mit.edu	37	1	161167857	161167857	+	Silent	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			G	T	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:161167857G>T	ENST00000367996.5	-	1	989	c.561C>A	c.(559-561)gcC>gcA	p.A187A	NDUFS2_ENST00000367993.3_5'Flank|ADAMTS4_ENST00000478394.1_5'Flank|ADAMTS4_ENST00000367995.3_Silent_p.A187A	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4			43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)	Tinzaparin(DB06822)	CTTGACCGCTGGCAGGACTCT	0.632000																								0							SO:0001819	synonymous_variant			ENST00000367996.5	1	1	hg19	CCDS1223.1																																																																																				TCGA-HZ-A77O-01A-11D-A33T-08	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	1	0	1	117	400	0	64	0	9.920764e-01	0	28	0	64	2		0	0	0	0	0	2	1	1.000000	116	392	0	63	2		0	0	0	0	64	2	-4.408328	1	1	0	0		1	0	1	1	2.210755	0	0.500000	1.610000	0.498747	0.890000	0.750000	1.000000	1.000000	0.901654	0.890000	1	0.820000	0.980000
TAF5L	27097	broad.mit.edu	37	1	229750171	229750171	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:229750171C>T	ENST00000366676.1	-	1	58	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000258281.2_Missense_Mutation_p.R20Q|TAF5L_ENST00000366675.3_Missense_Mutation_p.R20Q|TAF5L_ENST00000366674.1_Missense_Mutation_p.R20Q			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa			11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)			CACGTACTGCCGGCGTTTGAG	0.562000																								0							SO:0001583	missense			ENST00000366676.1	1	1	hg19	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	36	5.878785	0.97055	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675;ENST00000366674	T;T;T	0.66460	-0.21;-0.21;0.21	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.68952	2.095	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.61275	0.572;0.886	T	0.77776	-0.2461	9	.	.	.	-20.2862	20.0015	0.97412	0.0:1.0:0.0:0.0	.	20;20	O75529-2;O75529	.;TAF5L_HUMAN	Q	20	ENSP00000355636:R20Q;ENSP00000258281:R20Q;ENSP00000355635:R20Q	.	R	-	2	0	TAF5L	227816794	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.752000	0.68728	2.732000	0.93576	0.563000	0.77884	CGG		TCGA-HZ-A77O-01A-11D-A33T-08	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	1	0	1	82	319	0	65	1	9.438405e-01	3	18	0	65	2		0	0	0	0	0	2	1	1.000000	80	316	0	65	2		0	0	0	0	65	2	-3.285872	1	0	0	0		1	0	1	1	2.210755	0	0.500000	1.610000	0.498747	0.810000	0.660000	0.970000	0.820000	0.819216	0.810000	0	0.730000	0.900000
HNRNPR	10236	broad.mit.edu	37	1	23648137	23648137	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:23648137C>T	ENST00000374612.1	-	7	818	c.695G>A	c.(694-696)cGc>cAc	p.R232H	HNRNPR_ENST00000427764.2_Missense_Mutation_p.R194H|HNRNPR_ENST00000478691.1_Missense_Mutation_p.R131H|HNRNPR_ENST00000606561.1_Missense_Mutation_p.R93H|HNRNPR_ENST00000374616.3_Missense_Mutation_p.R232H|HNRNPR_ENST00000426846.2_Missense_Mutation_p.R72H|HNRNPR_ENST00000302271.6_Missense_Mutation_p.R232H	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R			19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)			TTTACCAGGGCGAATTTCATA	0.378000																								0							SO:0001583	missense			ENST00000374612.1	1	1	hg19	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146399	0.94603	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.35789	1.94;1.92;1.92;1.29;2.77	4.87	4.87	0.63330	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.60904	1.88	0.80722	D	1	D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.992;1.0	P;D;D;D;P;D	0.91635	0.826;0.999;0.999;0.996;0.877;0.993	T	0.60611	-0.7229	10	0.72032	D	0.01	-1.4045	16.9396	0.86213	0.0:1.0:0.0:0.0	.	72;194;93;209;232;232	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	H	232;232;232;194;72	ENSP00000363745:R232H;ENSP00000363741:R232H;ENSP00000304405:R232H;ENSP00000392799:R194H;ENSP00000415042:R72H	ENSP00000304405:R232H	R	-	2	0	HNRNPR	23520724	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.669000	0.83911	2.430000	0.82344	0.561000	0.74099	CGC		TCGA-HZ-A77O-01A-11D-A33T-08	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	1	0	1	147	314	0	94	1	1	127	49	0	94	2		0	0	0	0	0	2	1	1.000000	146	308	0	93	2		0	0	0	0	94	2	-20.000000	1	1	121412	1	31	1	0	1	1	1.726194	1	0.500000	1.610000	0.337748	0.940000	0.820000	1.000000	1.000000	0.939744	0.940000	1	0.880000	0.990000
TRIM58	25893	broad.mit.edu	37	1	248023988	248023988	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr1:248023988G>A	ENST00000366481.3	+	2	538	c.490G>A	c.(490-492)Gtg>Atg	p.V164M		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	p.V164L(1)		63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		GGAGGCCAACGTGGGGAAAAA	0.478000																								1	Substitution - Missense(1)						SO:0001583	missense			ENST00000366481.3	1	1	hg19	CCDS1636.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.615	-0.289792	0.05568	0.0	3.49E-4	ENSG00000162722	ENST00000366481	T	0.61510	0.1	4.02	2.13	0.27403	.	0.287861	0.24601	N	0.037136	T	0.43055	0.1230	L	0.46157	1.445	0.23210	N	0.998114	B	0.28512	0.214	B	0.17433	0.018	T	0.32981	-0.9886	10	0.49607	T	0.09	.	5.6579	0.17652	0.1092:0.2001:0.6907:0.0	.	164	Q8NG06	TRI58_HUMAN	M	164	ENSP00000355437:V164M	ENSP00000355437:V164M	V	+	1	0	TRIM58	246090611	0.045000	0.20229	0.400000	0.26346	0.001000	0.01503	0.046000	0.14035	0.467000	0.27218	-0.150000	0.13652	GTG		TCGA-HZ-A77O-01A-11D-A33T-08	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	1	0	1	57	199	0	28		0	0	0	0	28	2		0	0	0	0	0	2	1	1.000000	57	197	0	28	2		0	0	0	0	28	2	-20.000000	1	1	121412	8	39	1	0	1	1	2.210755	0	0.500000	1.610000	0.498747	0.880000	0.690000	1.000000	1.000000	0.884703	0.880000	1	0.780000	0.990000
TOX2	84969	broad.mit.edu	37	20	42680013	42680013	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:42680013G>A	ENST00000358131.5	+	4	714	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TOX2_ENST00000372999.1_Missense_Mutation_p.R118H|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_Missense_Mutation_p.R160H|TOX2_ENST00000423191.2_Missense_Mutation_p.R118H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2			26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)		CTGCTGGGTCGCCCGGCAATG	0.647000																								0							SO:0001583	missense			ENST00000358131.5	1	1	hg19	CCDS42875.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.49	2.847712	0.51164	.	.	ENSG00000124191	ENST00000341197;ENST00000442881;ENST00000423191;ENST00000372999;ENST00000358131;ENST00000435864	T;T;T;T;T;T	0.32515	2.66;1.45;2.68;2.68;2.46;2.42	5.76	4.81	0.61882	.	0.172966	0.52532	D	0.000077	T	0.49064	0.1535	L	0.52905	1.665	0.49582	D	0.999809	B;D;B;D;D	0.89917	0.154;1.0;0.089;0.999;1.0	B;D;B;P;D	0.83275	0.025;0.996;0.01;0.908;0.991	T	0.37641	-0.9697	10	0.22706	T	0.39	.	15.2536	0.73568	0.0:0.0:0.8586:0.1414	.	38;160;118;169;118	B4DQV8;G3XAC7;A8K1J1;Q96NM4;E1P5X0	.;.;.;TOX2_HUMAN;.	H	160;118;118;118;169;38	ENSP00000344724:R160H;ENSP00000396584:R118H;ENSP00000390278:R118H;ENSP00000362090:R118H;ENSP00000350849:R169H;ENSP00000396777:R38H	ENSP00000344724:R160H	R	+	2	0	TOX2	42113427	1.000000	0.71417	1.000000	0.80357	0.226000	0.24999	4.308000	0.59129	1.406000	0.46857	-0.181000	0.13052	CGC		TCGA-HZ-A77O-01A-11D-A33T-08	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2	1	0	1	71	208	0	43	0	4.796148e-01	1	5	0	43	2		0	0	0	0	0	2	1	1.000000	65	198	0	41	2		0	0	0	0	43	2	-20.000000	1	1	121392	5	36	1	0	0	0	2.177266	0	0.500000	1.610000	0.489796	0.990000	0.800000	1.000000	1.000000	0.959743	0.990000	1	0.890000	1.000000
PREX1	57580	broad.mit.edu	37	20	47309258	47309258	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr20:47309258G>A	ENST00000371941.3	-	8	1010	c.988C>T	c.(988-990)Cga>Tga	p.R330*	PREX1_ENST00000396220.1_Nonsense_Mutation_p.R330*	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1			110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		GTGTTGATTCGACCCCTGAAG	0.577000																								0							SO:0001587	stop_gained			ENST00000371941.3	0	1	hg19	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	37	6.315272	0.97467	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	.	.	.	5.22	5.22	0.72569	.	0.000000	0.46145	U	0.000302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0674	0.64839	0.0:0.0:0.8494:0.1506	.	.	.	.	X	330	.	ENSP00000361009:R330X	R	-	1	2	PREX1	46742665	1.000000	0.71417	0.768000	0.31515	0.923000	0.55619	3.913000	0.56394	2.601000	0.87937	0.650000	0.86243	CGA		TCGA-HZ-A77O-01A-11D-A33T-08	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	1	0	1	95	360	0	52	0	3.692279e-01	0	6	0	52	2		0	0	0	0	0	2	1	1.000000	95	355	0	52	2		0	0	0	0	52	2	-3.835495	1	1	0	0		1	0	0	0	2.177266	0	0.500000	1.610000	0.489796	0.810000	0.670000	0.960000	0.810000	0.821270	0.810000	0	0.740000	0.890000
RTN4R	65078	broad.mit.edu	37	22	20229361	20229361	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:20229361C>T	ENST00000043402.7	-	2	1733	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	RTN4R_ENST00000469601.1_5'Flank	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor			3	Colorectal(54;0.0993)				GCCTGCCTGGCCCAGACGGCA	0.731000																								0							SO:0001583	missense			ENST00000043402.7	1	1	hg19	CCDS13777.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.541897|2.541897	0.45280|0.45280	.|.	.|.	ENSG00000040608|ENSG00000040608	ENST00000416372;ENST00000425986|ENST00000043402	.|T	.|0.62105	.|0.05	3.35|3.35	2.31|2.31	0.28768|0.28768	.|.	.|.	.|.	.|.	.|.	T|T	0.58524|0.58524	0.2128|0.2128	L|L	0.39898|0.39898	1.24|1.24	0.36293|0.36293	D|D	0.856517|0.856517	.|D	.|0.69078	.|0.997	.|P	.|0.55011	.|0.766	T|T	0.59215|0.59215	-0.7496|-0.7496	5|9	.|0.25106	.|T	.|0.35	.|.	6.5148|6.5148	0.22242|0.22242	0.0:0.8615:0.0:0.1385|0.0:0.8615:0.0:0.1385	.|.	.|432	.|Q9BZR6	.|RTN4R_HUMAN	T|D	452;518|432	.|ENSP00000043402:G432D	.|ENSP00000043402:G432D	A|G	-|-	1|2	0|0	RTN4R|RTN4R	18609361|18609361	0.057000|0.057000	0.20700|0.20700	0.998000|0.998000	0.56505|0.56505	0.878000|0.878000	0.50629|0.50629	0.829000|0.829000	0.27449|0.27449	0.740000|0.740000	0.32651|0.32651	0.305000|0.305000	0.20034|0.20034	GCC|GGC		TCGA-HZ-A77O-01A-11D-A33T-08	RTN4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318950.2	1	0	1	22	68	0	21	1	6.872054e-01	5	4	0	21	2		0	0	0	0	0	2	1	1.000000	22	67	0	21	2		0	0	0	0	21	2	-20.000000	1	1	0	0		1	0	0	0	1.859408	1	0.500000	1.610000	0.404762	0.810000	0.540000	1.000000	1.000000	0.816301	0.810000	0	0.670000	0.970000
SULT4A1	25830	broad.mit.edu	37	22	44237769	44237769	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:44237769G>A	ENST00000330884.4	-	2	333	c.213C>T	c.(211-213)ggC>ggT	p.G71G	SULT4A1_ENST00000540422.1_Intron|SULT4A1_ENST00000249130.5_Silent_p.G71G	NM_014351.3	NP_055166.1	Q9BR01	ST4A1_HUMAN	sulfotransferase family 4A, member 1			9		Ovarian(80;0.024)|all_neural(38;0.0416)			CGGGGTCAGCGCCCTGGCTCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000330884.4	1	1	hg19	CCDS14051.1																																																																																				TCGA-HZ-A77O-01A-11D-A33T-08	SULT4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280660.2	1	0	1	46	279	0	51	0	0	0	1	0	51	2		0	0	0	0	0	2	1	1.000000	46	276	0	51	2		0	0	0	0	51	2	-20.000000	1	1	121412	2	37	1	0	0	0	1.859408	1	0.500000	1.610000	0.404762	0.470000	0.350000	0.600000	0.470000	0.480758	0.470000	0	0.410000	0.540000
ATXN10	25814	broad.mit.edu	37	22	46098600	46098600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr22:46098600G>A	ENST00000252934.5	+	5	785	c.520G>A	c.(520-522)Gtt>Att	p.V174I	ATXN10_ENST00000381061.4_Missense_Mutation_p.V110I|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10			10		Ovarian(80;0.00973)|all_neural(38;0.0417)			CAAAAAAATTGTTGCCTACTC	0.323000																								0							SO:0001583	missense			ENST00000252934.5	1	1	hg19	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.687268	0.68157	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.50277	0.75;0.75	5.9	5.9	0.94986	Armadillo-like helical (1);Armadillo-type fold (1);	0.059143	0.64402	D	0.000002	T	0.38772	0.1053	N	0.20986	0.625	0.53005	D	0.999969	P;P	0.45176	0.73;0.852	B;B	0.41299	0.353;0.243	T	0.09773	-1.0659	10	0.28530	T	0.3	-9.6916	19.2565	0.93948	0.0:0.0:1.0:0.0	.	110;174	A6NLC4;Q9UBB4	.;ATX10_HUMAN	I	110;174;174	ENSP00000370449:V110I;ENSP00000252934:V174I	ENSP00000252934:V174I	V	+	1	0	ATXN10	44477264	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	2.370000	0.44240	2.800000	0.96347	0.591000	0.81541	GTT		TCGA-HZ-A77O-01A-11D-A33T-08	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	1	0	1	94	274	0	55	1	1	53	101	0	55	2		0	0	0	0	0	2	1	1.000000	94	273	0	55	2		0	0	0	0	55	2	-20.000000	1	1	0	0		1	0	0	0	1.859408	1	0.500000	1.610000	0.404762	0.850000	0.700000	1.000000	0.860000	0.858128	0.850000	1	0.770000	0.930000
DHRS9	10170	broad.mit.edu	37	2	169940070	169940070	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:169940070C>T	ENST00000327239.4	+	6	2049	c.545C>T	c.(544-546)gCa>gTa	p.A182V	DHRS9_ENST00000421653.1_Missense_Mutation_p.A35V|DHRS9_ENST00000602501.1_Missense_Mutation_p.A182V|DHRS9_ENST00000357546.2_Missense_Mutation_p.A182V|DHRS9_ENST00000432060.2_Missense_Mutation_p.A242V|DHRS9_ENST00000412271.1_Missense_Mutation_p.A182V|DHRS9_ENST00000436483.2_Missense_Mutation_p.A182V|DHRS9_ENST00000428522.1_Missense_Mutation_p.A182V	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9			13					TCCAAATATGCAGTGGAAGGT	0.403000																								0							SO:0001583	missense			ENST00000327239.4	1	1	hg19	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898824	0.91962	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000421653;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.95554	-3.05;-3.05;-3.05;-3.05;-3.74;-3.05;-3.05	5.93	5.05	0.67936	NAD(P)-binding domain (1);	0.097035	0.64402	D	0.000002	D	0.98595	0.9530	H	0.98068	4.14	0.45452	D	0.99842	D;D	0.67145	0.996;0.984	D;D	0.70487	0.969;0.925	D	0.99470	1.0945	10	0.87932	D	0	.	15.27	0.73693	0.0:0.583:0.417:0.0	.	242;182	B7Z416;Q9BPW9	.;DHRS9_HUMAN	V	182;182;242;182;35;182;182	ENSP00000316670:A182V;ENSP00000350154:A182V;ENSP00000389241:A242V;ENSP00000388564:A182V;ENSP00000388066:A35V;ENSP00000407167:A182V;ENSP00000407747:A182V	ENSP00000316670:A182V	A	+	2	0	DHRS9	169648316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.657000	0.61490	1.505000	0.48720	0.655000	0.94253	GCA		TCGA-HZ-A77O-01A-11D-A33T-08	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	1	0	1	62	246	0	54	1	1	121	28	0	54	2		0	0	0	0	0	2	1	1.000000	62	242	0	52	2		0	0	0	0	54	2	-20.000000	1	1	0	0		1	0	0	0	2.067367	0	0.500000	1.610000	0.462366	0.740000	0.580000	0.910000	0.740000	0.753065	0.740000	0	0.660000	0.830000
PASK	23178	broad.mit.edu	37	2	242066535	242066535	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:242066535C>T	ENST00000405260.1	-	10	2493	c.1795G>A	c.(1795-1797)Ggt>Agt	p.G599S	PASK_ENST00000403638.3_Missense_Mutation_p.G599S|PASK_ENST00000544142.1_Missense_Mutation_p.G413S|PASK_ENST00000539818.1_Missense_Mutation_p.G383S|PASK_ENST00000358649.4_Missense_Mutation_p.G599S|PASK_ENST00000234040.4_Missense_Mutation_p.G599S	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase			53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)			GCCAGCTGACCCTTGGCCTGG	0.667000																								0							SO:0001583	missense			ENST00000405260.1	1	1	hg19	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009368	0.35415	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.72167	-0.63;-0.62;-0.63;-0.58;-0.6;0.26	4.63	2.74	0.32292	.	0.226096	0.30732	N	0.008999	T	0.63307	0.2500	L	0.34521	1.04	0.09310	N	1	B;D;B;D;B	0.61697	0.214;0.99;0.319;0.977;0.214	B;P;B;P;B	0.51806	0.056;0.68;0.121;0.566;0.056	T	0.54316	-0.8312	10	0.49607	T	0.09	.	5.8111	0.18467	0.0:0.7558:0.0:0.2442	.	564;413;599;599;599	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	S	599;413;599;599;383;599	ENSP00000234040:G599S;ENSP00000441374:G413S;ENSP00000384016:G599S;ENSP00000351475:G599S;ENSP00000443083:G383S;ENSP00000384438:G599S	ENSP00000234040:G599S	G	-	1	0	PASK	241715208	0.000000	0.05858	0.033000	0.17914	0.044000	0.14063	0.026000	0.13599	1.211000	0.43351	0.561000	0.74099	GGT		TCGA-HZ-A77O-01A-11D-A33T-08	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	1	0	0	49	503	0	112	0	1.922925e-01	1	8	0	112	2		0	0	0	0	0	2	1	1.000000	46	494	0	108	2		0	0	0	0	112	2	-20.000000	1	1	0	0		1	0	0	0	2.067367	0	0.500000	1.610000	0.462366	0.320000	0.240000	0.420000	0.330000	0.335035	0.320000	0	0.280000	0.380000
LYG1	129530	broad.mit.edu	37	2	99907775	99907775	+	Silent	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr2:99907775G>A	ENST00000409448.1	-	6	574	c.258C>T	c.(256-258)atC>atT	p.I86I	LYG1_ENST00000308528.4_Silent_p.I86I			Q8N1E2	LYG1_HUMAN	lysozyme G-like 1			7					AGACACCAGCGATCACGGCAG	0.488000																								0							SO:0001819	synonymous_variant			ENST00000409448.1	1	1	hg19	CCDS2043.1																																																																																				TCGA-HZ-A77O-01A-11D-A33T-08	LYG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330315.1	1	0	1	98	297	0	69	0	0	1	0	0	69	2		0	0	0	0	0	2	1	1.000000	98	293	0	69	2		0	0	0	0	69	2	-5.017740	1	1	121398	1	31	1	0	0	0	2.123271	0	0.500000	1.610000	0.476440	0.940000	0.780000	1.000000	1.000000	0.935749	0.940000	1	0.860000	1.000000
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	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	20.6	4.009576	0.75046	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.61261	0.2333	L	0.46614	1.455	0.80722	D	1	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	15.1509	0.72696	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	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.735000	0.84939	2.172000	0.68678	0.533000	0.62120	CAG		TCGA-HZ-A77O-01A-11D-A33T-08	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	0	0	0	6	413	0	80	0	7.370483e-02	0	26	0	80	2		0	0	0	0	0	2	1	0.969565	6	431	0	86	2		0	0	0	0	80	2	-2.086767	0	1	0	0		1	0	2	2	1.949099	1	0.500000	1.610000	0.500000	0.060000	0.020000	1.000000	0.060000	0.229017	0.060000	0	0.030000	1.000000
SLC2A2	6514	broad.mit.edu	37	3	170723136	170723136	+	Nonsense_Mutation	SNP	G	G	A	rs121909743		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr3:170723136G>A	ENST00000314251.3	-	7	980	c.901C>T	c.(901-903)Cga>Tga	p.R301*	SLC2A2_ENST00000382808.4_Nonsense_Mutation_p.R182*	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	p.R301*(1)		24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)	Streptozocin(DB00428)	ATAGGCTGTCGGTAGCTGGAA	0.418000																								1	Substitution - Nonsense(1)	GRCh37	CM971382	SLC2A2	M	rs121909743	SO:0001587	stop_gained			ENST00000314251.3	0	1	hg19	CCDS3215.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930078	0.52759	.	.	ENSG00000163581	ENST00000314251;ENST00000382808	.	.	.	5.53	2.71	0.32032	.	0.053497	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9913	0.41872	0.0638:0.0:0.5056:0.4306	.	.	.	.	X	301;182	.	ENSP00000323568:R301X	R	-	1	2	SLC2A2	172205830	1.000000	0.71417	0.209000	0.23619	0.110000	0.19582	1.608000	0.36847	0.357000	0.24183	0.591000	0.81541	CGA		TCGA-HZ-A77O-01A-11D-A33T-08	SLC2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352834.1	0	0	0	10	442	0	71		0	0	0	0	71	2		0	0	0	0	0	2	1	0.996735	10	436	0	70	2		0	0	0	0	71	2	-2.077105	0	1	121410	1	30	1	0	2	2	1.949099	1	0.500000	1.610000	0.500000	0.090000	0.040000	1.000000	0.090000	0.254063	0.090000	0	0.060000	1.000000
SH3TC1	54436	broad.mit.edu	37	4	8218705	8218705	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:8218705C>G	ENST00000245105.3	+	7	717	c.650C>G	c.(649-651)cCt>cGt	p.P217R	SH3TC1_ENST00000539824.1_Missense_Mutation_p.P141R	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1			33					GTCCTGTGTCCTGACCACCAT	0.682000													NSCLC(145;2298 2623 35616 37297)											0							SO:0001583	missense			ENST00000245105.3	1	1	hg19	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.057449	0.36277	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265;ENST00000508641	T;T;T	0.76186	-1.0;-0.99;0.19	3.92	3.06	0.35304	.	0.353893	0.25523	N	0.030088	T	0.79240	0.4412	L	0.43152	1.355	0.34759	D	0.732591	D	0.62365	0.991	D	0.66847	0.947	D	0.83857	0.0266	10	0.72032	D	0.01	-1.8145	11.6341	0.51194	0.0:0.8195:0.1805:0.0	.	217	Q8TE82	S3TC1_HUMAN	R	217;141;46;26	ENSP00000245105:P217R;ENSP00000441045:P141R;ENSP00000426035:P26R	ENSP00000245105:P217R	P	+	2	0	SH3TC1	8269605	1.000000	0.71417	0.973000	0.42090	0.376000	0.30014	2.970000	0.49240	0.617000	0.30160	0.313000	0.20887	CCT		TCGA-HZ-A77O-01A-11D-A33T-08	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	1	0	1	84	374	0	78	1	9.728818e-01	13	15	0	78	2		0	0	0	0	0	2	1	1.000000	83	371	0	76	2		0	0	0	0	78	2	-3.171598	1	1	0	0		1	0	0	0	2.084874	0	0.500000	1.610000	0.468085	0.680000	0.550000	0.820000	0.690000	0.693061	0.680000	0	0.610000	0.760000
SCD5	79966	broad.mit.edu	37	4	83601872	83601872	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr4:83601872C>T	ENST00000319540.4	-	3	876	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5			13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)			TCTCTGGATCCGGACCACAGG	0.512000																								0							SO:0001583	missense			ENST00000319540.4	1	1	hg19	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603393	0.46423	.	.	ENSG00000145284	ENST00000319540;ENST00000273908	T;T	0.13538	2.58;2.58	5.34	-3.29	0.05017	Fatty acid desaturase, type 1 (1);	0.274691	0.36034	N	0.002837	T	0.05135	0.0137	L	0.31664	0.95	0.54753	D	0.99998	P;B	0.41265	0.744;0.104	B;B	0.30401	0.115;0.025	T	0.42965	-0.9420	10	0.39692	T	0.17	-11.999	1.765	0.03000	0.1963:0.3386:0.0973:0.3678	.	186;186	Q86SK9-2;Q86SK9	.;SCD5_HUMAN	Q	186	ENSP00000316329:R186Q;ENSP00000273908:R186Q	ENSP00000273908:R186Q	R	-	2	0	SCD5	83820896	0.809000	0.29036	0.950000	0.38849	0.985000	0.73830	0.050000	0.14120	-0.917000	0.03813	0.591000	0.81541	CGG		TCGA-HZ-A77O-01A-11D-A33T-08	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	1	0	1	74	283	0	62	1	9.999082e-01	3	52	0	62	2		0	0	0	0	0	2	1	1.000000	72	282	0	61	2		0	0	0	0	62	2	-3.150502	1	0	121412	4	39	1	0	0	0	2.097991	0	0.500000	1.610000	0.470899	0.770000	0.620000	0.940000	0.780000	0.787033	0.770000	0	0.700000	0.860000
GDF9	2661	broad.mit.edu	37	5	132199861	132199861	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr5:132199861C>T	ENST00000378673.2	-	2	1231	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	GDF9_ENST00000296875.2_Missense_Mutation_p.R122Q|UQCRQ_ENST00000378670.3_5'Flank|UQCRQ_ENST00000378667.1_5'Flank|UQCRQ_ENST00000378665.1_5'Flank|GDF9_ENST00000464378.1_5'UTR			O60383	GDF9_HUMAN	growth differentiation factor 9			22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		CTGCTTGTGCCGGGTACAGGG	0.463000																								0							SO:0001583	missense			ENST00000378673.2	0	1	hg19	CCDS4162.1	.	.	.	.	.	.	.	.	.	.	C	6.477	0.456158	0.12283	.	.	ENSG00000164404	ENST00000378673;ENST00000296875	T;T	0.57436	0.4;0.4	5.61	1.73	0.24493	.	0.400271	0.24909	N	0.034632	T	0.09024	0.0223	N	0.00025	-2.675	0.19775	N	0.999957	B	0.02656	0.0	B	0.01281	0.0	T	0.41142	-0.9525	10	0.06365	T	0.9	.	6.5274	0.22309	0.2293:0.0674:0.0:0.7032	.	122	O60383	GDF9_HUMAN	Q	122	ENSP00000367942:R122Q;ENSP00000296875:R122Q	ENSP00000296875:R122Q	R	-	2	0	GDF9	132227760	0.974000	0.33945	0.894000	0.35097	0.991000	0.79684	1.412000	0.34714	0.044000	0.15775	-0.294000	0.09567	CGG		TCGA-HZ-A77O-01A-11D-A33T-08	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2	0	0	0	8	654	0	79	0	2.032107e-04	0	2	0	79	2		0	0	0	0	0	2	1	0.988885	8	646	0	79	2		0	0	0	0	79	2	-2.268093	0	1	0	0		1	1	2	3	2.280138	0	0.500000	1.610000	0.507389	0.040000	0.010000	1.000000	0.050000	0.099439	0.040000	0	0.030000	0.080000
GRM1	2911	broad.mit.edu	37	6	146351187	146351187	+	Silent	SNP	C	C	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr6:146351187C>T	ENST00000282753.1	+	1	769	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GRM1_ENST00000492807.2_Silent_p.F178F|GRM1_ENST00000355289.4_Silent_p.F178F|GRM1_ENST00000507907.1_Silent_p.F178F|GRM1_ENST00000361719.2_Silent_p.F178F|GRM1_ENST00000392299.2_Silent_p.F178F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1			126		Ovarian(120;0.0387)			TCCAGCTCTTCGACATCCCCC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000282753.1	1	1	hg19	CCDS5209.1																																																																																				TCGA-HZ-A77O-01A-11D-A33T-08	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	1	0	0	193	359	0	98		0	0	0	0	98	2		0	0	0	0	0	2	1	1.000000	190	357	0	98	2		0	0	0	0	98	2	-20.000000	1	1	0	0		1	0	1	1	1.713921	1	0.500000	1.610000	0.335548	0.970000	0.890000	1.000000	1.000000	0.975636	0.970000	1	0.940000	1.000000
SAMD9	54809	broad.mit.edu	37	7	92732859	92732859	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr7:92732859A>G	ENST00000379958.2	-	3	2821	c.2552T>C	c.(2551-2553)aTt>aCt	p.I851T		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9			88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)		TATTACGGCAATACTGTCTGG	0.343000																								0							SO:0001583	missense			ENST00000379958.2	1	1	hg19	CCDS34680.1	.	.	.	.	.	.	.	.	.	.	A	7.577	0.668027	0.14710	.	.	ENSG00000205413	ENST00000379958;ENST00000446617	D;D	0.81499	-1.5;-1.5	4.32	4.32	0.51571	.	0.103207	0.41294	U	0.000918	T	0.76730	0.4028	M	0.65975	2.015	0.26245	N	0.978804	B	0.33694	0.421	B	0.28139	0.086	T	0.73898	-0.3837	10	0.87932	D	0	-2.2486	12.4185	0.55508	1.0:0.0:0.0:0.0	.	851	Q5K651	SAMD9_HUMAN	T	851	ENSP00000369292:I851T;ENSP00000414529:I851T	ENSP00000369292:I851T	I	-	2	0	SAMD9	92570795	0.022000	0.18835	0.116000	0.21606	0.070000	0.16714	2.972000	0.49256	1.813000	0.52934	0.496000	0.49642	ATT		TCGA-HZ-A77O-01A-11D-A33T-08	SAMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341761.1	1	0	1	97	333	0	68	1	9.469758e-01	8	11	0	68	2		0	0	0	0	0	2	1	1.000000	96	331	0	66	2		0	0	0	0	68	2	-20.000000	1	1	0	0		1	1	2	3	2.232130	0	0.500000	1.610000	0.501247	0.900000	0.740000	1.000000	1.000000	0.902098	0.900000	1	0.820000	0.990000
COL22A1	169044	broad.mit.edu	37	8	139767411	139767411	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:139767411G>A	ENST00000303045.6	-	21	2466	c.2020C>T	c.(2020-2022)Cca>Tca	p.P674S	COL22A1_ENST00000435777.1_Missense_Mutation_p.P674S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1			211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)		CGAGCTCCTGGAGGACCGGGG	0.567000										HNSCC(7;0.00092)														0							SO:0001583	missense			ENST00000303045.6	1	1	hg19	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.542600	0.45280	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94376	-3.41;-3.19	4.98	4.98	0.66077	.	0.308551	0.23002	U	0.053079	D	0.95411	0.8510	L	0.58669	1.825	0.50039	D	0.999843	D	0.89917	1.0	D	0.80764	0.994	D	0.94829	0.7994	10	0.51188	T	0.08	.	13.636	0.62223	0.0:0.0:1.0:0.0	.	674	Q8NFW1	COMA1_HUMAN	S	674;674;387	ENSP00000303153:P674S;ENSP00000387655:P674S	ENSP00000303153:P674S	P	-	1	0	COL22A1	139836593	0.996000	0.38824	0.977000	0.42913	0.042000	0.13812	2.770000	0.47662	2.597000	0.87782	0.591000	0.81541	CCA		TCGA-HZ-A77O-01A-11D-A33T-08	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	0	0	0	21	650	0	92	0	4.961768e-02	0	11	0	92	2		0	0	0	0	0	2	1	0.999997	21	648	0	93	2		0	0	0	0	92	2	-3.135071	1	1	121412	6	40	1	1	2	3	2.262494	0	0.500000	1.610000	0.506173	0.120000	0.070000	1.000000	0.130000	0.165155	0.120000	0	0.090000	0.170000
EPPK1	83481	broad.mit.edu	37	8	144946416	144946416	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr8:144946416G>A	ENST00000525985.1	-	2	1077	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W				P58107	EPIPL_HUMAN	epiplakin 1			71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		ACCCACAGCCGCTGGCCTGTG	0.701000																								0							SO:0001583	missense			ENST00000525985.1	0	1	hg19		.	.	.	.	.	.	.	.	.	.	G	12.23	1.875370	0.33162	0.0	3.62E-4	ENSG00000227184	ENST00000525985	T	0.79454	-1.27	4.96	1.85	0.25348	.	.	.	.	.	T	0.76350	0.3975	M	0.88979	2.995	0.09310	N	1	B	0.22346	0.068	B	0.15484	0.013	T	0.70139	-0.4954	9	0.66056	D	0.02	.	2.7639	0.05315	0.0966:0.144:0.485:0.2743	.	336	E9PPU0	.	W	336	ENSP00000436337:R336W	ENSP00000436337:R336W	R	-	1	2	EPPK1	145018404	0.000000	0.05858	0.004000	0.12327	0.830000	0.47004	0.727000	0.25999	0.647000	0.30713	0.511000	0.50034	CGG		TCGA-HZ-A77O-01A-11D-A33T-08	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	0	0	0	6	356	0	45	0	0	0	1	0	45	2		0	0	0	0	0	2	1	0.964077	6	352	0	44	2		0	0	0	0	45	2	-5.790673	1	1	120314	4	35	1	1	2	3	2.262494	0	0.500000	1.610000	0.506173	0.070000	0.020000	1.000000	0.070000	0.112712	0.070000	0	0.040000	0.110000
SUSD1	64420	broad.mit.edu	37	9	114911537	114911537	+	Silent	SNP	G	G	T			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:114911537G>T	ENST00000374270.3	-	3	532	c.360C>A	c.(358-360)ggC>ggA	p.G120G	SUSD1_ENST00000374263.3_Silent_p.G120G|SUSD1_ENST00000374264.2_Silent_p.G120G	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1		SUSD1/ROD1(2)	28					TACAAAAGGTGCCATCGTTGG	0.468000																								0							SO:0001819	synonymous_variant			ENST00000374270.3	1	1	hg19	CCDS6783.1	.	.	.	.	.	.	.	.	.	.	G	9.466	1.094271	0.20471	.	.	ENSG00000106868	ENST00000355396	.	.	.	5.23	4.34	0.51931	.	.	.	.	.	T	0.63873	0.2548	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62296	-0.6884	4	.	.	.	-25.4964	12.7168	0.57119	0.0814:0.0:0.9186:0.0	.	.	.	.	N	104	.	.	H	-	1	0	SUSD1	113951358	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.281000	0.43452	1.205000	0.43262	0.655000	0.94253	CAC		TCGA-HZ-A77O-01A-11D-A33T-08	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	1	0	1	402	845	0	252	1	6.263894e-01	5	1	0	252	2		0	0	0	0	0	2	1	1.000000	398	826	0	250	2		0	0	0	0	252	2	-20.000000	1	1	0	0		1	0	1	1	1.697330	1	0.500000	1.610000	0.333333	0.950000	0.880000	1.000000	0.970000	0.954046	0.950000	1	0.910000	0.990000
CDKN2A	1029	broad.mit.edu	37	9	21971111	21971111	+	Missense_Mutation	SNP	G	G	A	rs121913385		TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chr9:21971111G>A	ENST00000304494.5	-	2	517	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	CDKN2A_ENST00000530628.2_Missense_Mutation_p.A97V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000579755.1_Missense_Mutation_p.A97V|CDKN2A_ENST00000494262.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.H32Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.H83Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.A138V|CDKN2A_ENST00000498628.2_Missense_Mutation_p.H32Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.H83Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Missense_Mutation_p.H32Y	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	p.0?(1315)|p.?(44)|p.H83Y(30)|p.A138V(2)|p.H83fs*2(2)|p.H83N(1)|p.V82fs*62(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82_E88del(1)		4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)			GCAGCGTCGTGCACGGGTCGG	0.741000	H83Y(CALU3_LUNG)|H83Y(HS944T_SKIN)|H83Y(JHH2_LIVER)|H83Y(OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|H83Y(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)														1403	Whole gene deletion(1316)|Unknown(44)|Substitution - Missense(33)|Deletion - Frameshift(6)|Deletion - In frame(3)|Complex - deletion inframe(1)	GRCh37	CM053801|CM056557	CDKN2A	M	rs121913385	SO:0001583	missense			ENST00000304494.5	1	1	hg19	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.7|26.7	4.762523|4.762523	0.89932|0.89932	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	T;T|T;T	0.80393|0.71222	-1.37;-1.31|-0.55;-0.55	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Ankyrin repeat-containing domain (4);	0.000000|.	0.37261|.	N|.	0.002164|.	T|T	0.77579|0.77579	0.4151|0.4151	L|L	0.27053|0.27053	0.805|0.805	0.46521|0.46521	D|D	0.999085|0.999085	P|D	0.47191|0.76494	0.891|0.999	B|D	0.44044|0.75484	0.439|0.986	T|T	0.79024|0.79024	-0.1972|-0.1972	10|9	0.62326|0.66056	D|D	0.03|0.02	-15.192|-15.192	19.1026|19.1026	0.93279|0.93279	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138|83	Q8N726|P42771	CD2A2_HUMAN|CD2A1_HUMAN	V|Y	138;97|83	ENSP00000355153:A138V;ENSP00000432664:A97V|ENSP00000307101:H83Y;ENSP00000394932:H83Y	ENSP00000355153:A138V|ENSP00000307101:H83Y	A|H	-|-	2|1	0|0	CDKN2A|CDKN2A	21961111|21961111	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.915000|0.915000	0.54546|0.54546	8.665000|8.665000	0.91144|0.91144	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCA|CAC		TCGA-HZ-A77O-01A-11D-A33T-08	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	1	0	0	42	92	0	31	1	1	471	4	0	31	2	1	1	46	75	0	159	2	1	1.000000	37	84	0	29	2		0	0	0	0	31	2	-20.000000	1	1	0	0		1	0	1	1	1.687709	1	0.500000	1.610000	0.333333	0.880000	0.690000	1.000000	0.930000	0.879848	0.880000	1	0.790000	0.960000
DRP2	1821	broad.mit.edu	37	X	100506020	100506020	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:100506020A>G	ENST00000395209.3	+	16	2340	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	DRP2_ENST00000541709.1_Missense_Mutation_p.K527E|DRP2_ENST00000538510.1_Missense_Mutation_p.K605E|DRP2_ENST00000402866.1_Missense_Mutation_p.K605E	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2			31					TGAGCAAGTGAAGCATCAGAC	0.502000																								0							SO:0001583	missense			ENST00000395209.3	1	1	hg19	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	A	33	5.278266	0.95459	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23	6.06	6.06	0.98353	Zinc finger, ZZ-type (3);	0.000000	0.85682	D	0.000000	D	0.93973	0.8070	M	0.86268	2.805	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.94735	0.7913	10	0.87932	D	0	-23.2752	15.4998	0.75687	1.0:0.0:0.0:0.0	.	605	Q13474	DRP2_HUMAN	E	605;605;527;605	ENSP00000385038:K605E;ENSP00000378635:K605E;ENSP00000444752:K527E;ENSP00000441051:K605E	ENSP00000378635:K605E	K	+	1	0	DRP2	100392676	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.339000	0.96797	2.044000	0.60594	0.486000	0.48141	AAG		TCGA-HZ-A77O-01A-11D-A33T-08	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	1	0	1	202	664	0	119	0	0	0	1	0	119	2		0	0	0	0	0	2	1	1.000000	202	660	0	120	2		0	0	0	0	119	2	-20.000000	1	1	0	0		1	0	1	1			0.500000	1.610000	0.500000	0.920000	0.810000	1.000000	1.000000	0.930501	0.920000	1	0.870000	0.990000
DCX	1641	broad.mit.edu	37	X	110644391	110644391	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	p.R178C(1)|p.R259C(1)		41					AGCTTGGGGCGCACAAAGTCC	0.537000																								2	Substitution - Missense(2)	GRCh37	CM023910	DCX	M		SO:0001583	missense			ENST00000338081.3	0	1	hg19	CCDS14556.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679772	0.88542	.	.	ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120	D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32	4.74	4.74	0.60224	Doublecortin domain (3);	0.131721	0.50627	D	0.000104	D	0.95592	0.8567	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66351	0.943;0.917	D	0.96124	0.9087	10	0.72032	D	0.01	.	17.6068	0.88040	0.0:0.0:1.0:0.0	.	247;259	B4DM53;O43602	.;DCX_HUMAN	C	178;178;259;178;178	ENSP00000349385:R178C;ENSP00000361061:R178C;ENSP00000337697:R259C;ENSP00000348553:R178C;ENSP00000419861:R178C	ENSP00000337697:R259C	R	-	1	0	DCX	110531047	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.624000	0.74243	2.283000	0.76528	0.600000	0.82982	CGC		TCGA-HZ-A77O-01A-11D-A33T-08	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	0	0	0	7	483	1	84		0	0	0	1	84	2		0	0	0	0	0	2	0	0.012563	7	479	1	84	19		0	0	0	1	84	2	-2.160534	0	1	0	0		1	0	1	1			0.500000	1.610000	0.500000	0.050000	0.020000	0.110000	0.060000	0.064925	0.050000	0	0.030000	0.090000
OPN1LW	5956	broad.mit.edu	37	X	153420210	153420210	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:153420210G>C	ENST00000369951.4	+	4	800	c.740G>C	c.(739-741)cGa>cCa	p.R247P	OPN1LW_ENST00000463296.1_Intron	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive			15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)				CTGGCCATCCGAGCGGTAAGC	0.567000																								0							SO:0001583	missense			ENST00000369951.4	1	1	hg19	CCDS14742.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940087	0.52972	.	.	ENSG00000102076	ENST00000369951;ENST00000442922	T;T	0.44083	0.93;0.93	4.27	4.27	0.50696	GPCR, rhodopsin-like superfamily (1);	0.064338	0.64402	D	0.000007	T	0.51227	0.1662	M	0.86343	2.81	0.47862	D	0.999536	B	0.25955	0.138	B	0.26969	0.075	T	0.60414	-0.7268	10	0.72032	D	0.01	.	15.1182	0.72419	0.0:0.0:1.0:0.0	.	247	P04000	OPSR_HUMAN	P	247;110	ENSP00000358967:R247P;ENSP00000402493:R110P	ENSP00000358967:R247P	R	+	2	0	OPN1LW	153073404	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	5.820000	0.69250	1.888000	0.54679	0.372000	0.22366	CGA		TCGA-HZ-A77O-01A-11D-A33T-08	OPN1LW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082839.2	0	0	0	33	1493	0	258		0	0	0	0	258	2		0	0	0	0	0	2	1	1.000000	34	1457	0	307	2		0	0	0	0	258	2	-2.182734	0	1	0	0		1	0	1	1			0.500000	1.610000	0.500000	0.080000	0.050000	0.120000	0.080000	0.088943	0.080000	0	0.060000	0.110000
FAM120C	54954	broad.mit.edu	37	X	54099471	54099471	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77O-01A-11D-A33T-08	TCGA-HZ-A77O-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	51a31396-824d-4bb7-880f-22e8ad499de8	0b3e89bf-3b98-412d-a579-3819ebdc3fb8	g.chrX:54099471C>A	ENST00000375180.2	-	16	3342	c.3286G>T	c.(3286-3288)Gac>Tac	p.D1096Y	FAM120C_ENST00000328235.4_3'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C			28					GCTTATCAGTCCTCTTTCCGT	0.418000																								0							SO:0001583	missense			ENST00000375180.2	1	1	hg19	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.579228	0.46006	.	.	ENSG00000184083	ENST00000375180	T	0.24908	1.83	4.52	2.74	0.32292	.	0.372810	0.22141	N	0.064050	T	0.18509	0.0444	N	0.08118	0	0.80722	D	1	D	0.53885	0.963	P	0.50708	0.648	T	0.05131	-1.0904	10	0.87932	D	0	.	8.735	0.34523	0.0:0.7975:0.0:0.2025	.	1096	Q9NX05	F120C_HUMAN	Y	1096	ENSP00000364324:D1096Y	ENSP00000364324:D1096Y	D	-	1	0	FAM120C	54116196	0.994000	0.37717	0.837000	0.33122	0.604000	0.37047	1.002000	0.29796	0.434000	0.26340	-0.192000	0.12808	GAC		TCGA-HZ-A77O-01A-11D-A33T-08	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	1	0	1	232	816	0	165	0	0	0	1	0	165	2		0	0	0	0	0	2	1	1.000000	233	807	0	164	2		0	0	0	0	165	2	-20.000000	1	1	0	0		1	0	1	1			0.500000	1.610000	0.500000	0.880000	0.780000	0.980000	0.880000	0.886452	0.880000	1	0.820000	0.940000