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
MAP3K6	9064	broad.mit.edu	37	1	27688114	27688115	+	Frame_Shift_Ins	INS	-	-	GC	rs142955447		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:27688114_27688115insGC	ENST00000493901.1	-	12	1821_1822	c.1582_1583insGC	c.(1582-1584)ctgfs	p.L528fs	MAP3K6_ENST00000374040.3_Frame_Shift_Ins_p.L520fs|MAP3K6_ENST00000357582.2_Frame_Shift_Ins_p.L528fs	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6			10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)			CTCCAGGACCAGCACCTGCAGG	0.629000																								0							SO:0001589	frameshift_variant			ENST00000493901.1	0	1	hg19	CCDS299.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	1	0	0	13	250	0	57	0	6.119411e-01	0	40	0	57	2	0	0	0	0	0	0		1	0.999581	13	251	0	58	2								-3.088860	1	1	0	0		1	0	0	0	1.957721	0	0.100000	2	0.075026	0.940000	0.530000	1.000000	1.000000	0.885268	0.940000	1	0.720000	1.000000
ERLIN1	10613	broad.mit.edu	37	10	101911917	101911917	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr10:101911917C>T	ENST00000421367.2	-	11	3725	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	ERLIN1_ENST00000407654.3_Missense_Mutation_p.V340I	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1					Colorectal(252;0.234)			TTTTGGATGACGTTCTCTCCA	0.458000																								0							SO:0001583	missense			ENST00000421367.2	0	1	hg19	CCDS7487.2	.	.	.	.	.	.	.	.	.	.	C	9.042	0.990018	0.18966	.	.	ENSG00000107566	ENST00000421367;ENST00000407654	T;T	0.63417	-0.04;-0.04	5.61	0.201	0.15186	.	0.689394	0.13155	U	0.409529	T	0.33556	0.0867	N	0.08118	0	0.09310	N	0.999999	B;B	0.10296	0.0;0.003	B;B	0.06405	0.0;0.002	T	0.12502	-1.0545	10	0.30078	T	0.28	-15.3852	3.2164	0.06700	0.0833:0.2748:0.3616:0.2804	.	338;340	O75477;D3DR65	ERLN1_HUMAN;.	I	340	ENSP00000410964:V340I;ENSP00000384900:V340I	ENSP00000384900:V340I	V	-	1	0	ERLIN1	101901907	1.000000	0.71417	0.942000	0.38095	0.963000	0.63663	1.330000	0.33781	-0.138000	0.11434	-0.228000	0.12330	GTC		TCGA-XD-AAUH-01A-42D-A40W-08	ERLIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049840.2	0	0	0	6	132	0	24	1	8.227673e-01	6	66	0	24	2		0	0	0	0	0	2	1	0.965260	6	131	0	24	2								-4.218542	1	1	121408	4	40	1	1	2	3	2.014299	0	0.100000	2	0.108911	0.980000	0.400000	1.000000	1.000000	0.860177	0.980000	1	0.630000	1.000000
CPT1A	1374	broad.mit.edu	37	11	68549244	68549244	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:68549244G>A	ENST00000265641.5	-	11	1501	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y	CPT1A_ENST00000539743.1_Silent_p.Y449Y|CPT1A_ENST00000540367.1_Silent_p.Y449Y|CPT1A_ENST00000376618.2_Silent_p.Y449Y	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)			42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)	Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	GGTACCTGTCGTAACATCGGC	0.473000																								0							SO:0001819	synonymous_variant			ENST00000265641.5	1	1	hg19	CCDS8185.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	0	0	0	26	552	1	145	0	2.494480e-01	1	36	1	145	3		0	0	0	0	0	2	1	0.968259	25	543	1	144	15								-4.417168	1	1	121412	2	39	1	1	2	3	2.009135	0	0.100000	2	0.107586	0.940000	0.610000	1.000000	1.000000	0.900970	0.940000	1	0.760000	1.000000
CCDC67	159989	broad.mit.edu	37	11	93088643	93088643	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr11:93088643C>T	ENST00000298050.3	+	3	236	c.136C>T	c.(136-138)Cga>Tga	p.R46*	CCDC67_ENST00000530053.1_3'UTR|CCDC67_ENST00000527307.1_Nonsense_Mutation_p.R46*	NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67			22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)			TTTGGAGACACGATTAGATCT	0.388000																								0							SO:0001587	stop_gained			ENST00000298050.3	0	1	hg19	CCDS44707.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645274	0.87859	.	.	ENSG00000165325	ENST00000534747;ENST00000298050;ENST00000532819;ENST00000527307	.	.	.	5.54	1.18	0.20946	.	0.445552	0.20432	N	0.092454	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	5.1073	0.14790	0.4125:0.4189:0.0919:0.0768	.	.	.	.	X	46	.	ENSP00000298050:R46X	R	+	1	2	CCDC67	92728291	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	1.260000	0.32968	0.656000	0.30886	0.491000	0.48974	CGA		TCGA-XD-AAUH-01A-42D-A40W-08	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	0	11	190	0	41	0	1.078655e-02	0	3	0	41	2		0	0	0	0	0	2	1	0.998387	10	189	0	40	2								-4.722607	1	1	120828	1	31	1	1	2	3	2.009135	0	0.100000	2	0.107586	0.990000	0.610000	1.000000	1.000000	0.945919	0.990000	1	0.850000	1.000000
RNF10	9921	broad.mit.edu	37	12	121000776	121000776	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:121000776C>T	ENST00000325954.4	+	8	1618	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	RNF10_ENST00000413266.2_Missense_Mutation_p.A386V	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10			27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)				TCGGGATTGGCCGGAAGCAGA	0.542000																								0							SO:0001583	missense			ENST00000325954.4	0	1	hg19	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.715693|2.715693	0.48622|0.48622	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000542438;ENST00000413266|ENST00000537740	D;D|.	0.89270|.	-2.49;-2.48|.	5.5|5.5	4.55|4.55	0.56014|0.56014	.|.	0.823828|.	0.11705|.	N|.	0.537503|.	T|T	0.46328|0.46328	0.1387|0.1387	L|L	0.29908|0.29908	0.895|0.895	0.35161|0.35161	D|D	0.770683|0.770683	B;B|.	0.21071|.	0.051;0.039|.	B;B|.	0.24541|.	0.054;0.019|.	T|T	0.50833|0.50833	-0.8781|-0.8781	10|5	0.22706|.	T|.	0.39|.	.|.	10.6165|10.6165	0.45454|0.45454	0.2039:0.7961:0.0:0.0|0.2039:0.7961:0.0:0.0	.|.	386;386|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	V|S	386;386;116;386|64	ENSP00000322242:A386V;ENSP00000415682:A386V|.	ENSP00000322242:A386V|.	A|P	+|+	2|1	0|0	RNF10|RNF10	119485159|119485159	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.549000|0.549000	0.35272|0.35272	1.456000|1.456000	0.35201|0.35201	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	GCC|CCG		TCGA-XD-AAUH-01A-42D-A40W-08	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4	0	0	0	5	226	0	41	0	9.642978e-01	0	281	0	41	2		0	0	0	0	0	2	1	0.931477	5	217	0	39	2								-2.565000	1	1	0	0		1	0	1	1	1.998579	0	0.100000	2	0.094112	0.450000	0.170000	0.900000	0.400000	0.488700	0.450000	0	0.290000	0.670000
TMEM132D	121256	broad.mit.edu	37	12	130185196	130185196	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:130185196G>A	ENST00000422113.2	-	2	453	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D			152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)			TAGGTGGGCAGCAAGGAAAAC	0.557000																								0							SO:0001819	synonymous_variant			ENST00000422113.2	1	1	hg19	CCDS9266.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	1	0	0	10	188	0	33	0	1.805466e-02	0	4	0	33	2		0	0	0	0	0	2	1	0.996135	10	177	0	33	2								-3.336040	1	1	0	0		1	0	1	1	1.998579	0	0.100000	2	0.094112	0.990000	0.520000	1.000000	1.000000	0.900447	0.990000	1	0.730000	1.000000
E2F7	144455	broad.mit.edu	37	12	77423797	77423797	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:77423797C>T	ENST00000322886.7	-	10	1933	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A	E2F7_ENST00000416496.2_Silent_p.A566A	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7			42					CTGACCCTGACGCTGGTCCCT	0.582000																								0							SO:0001819	synonymous_variant			ENST00000322886.7	0	1	hg19	CCDS9016.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406716.1	0	0	0	12	375	0	55	0	0	1	0	0	55	2		0	0	0	0	0	2	1	0.999048	12	368	0	50	2								-3.736389	1	1	121412	12	44	1	0	1	1	1.998579	0	0.100000	2	0.094112	0.620000	0.340000	1.000000	1.000000	0.644291	0.620000	0	0.460000	0.810000
ALX1	8092	broad.mit.edu	37	12	85674140	85674140	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr12:85674140C>T	ENST00000316824.3	+	1	256	c.101C>T	c.(100-102)aCg>aTg	p.T34M		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1			26					GTTATGGAGACGCTGGACAAT	0.567000																								0							SO:0001583	missense			ENST00000316824.3	1	1	hg19	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409340	0.62399	.	.	ENSG00000180318	ENST00000316824	D	0.92545	-3.06	5.48	5.48	0.80851	.	0.091744	0.85682	D	0.000000	D	0.85522	0.5716	N	0.14661	0.345	0.44117	D	0.996899	D	0.54047	0.964	B	0.41299	0.353	D	0.88533	0.3104	10	0.87932	D	0	.	15.694	0.77481	0.0:0.8631:0.1369:0.0	.	34	Q15699	ALX1_HUMAN	M	34	ENSP00000315417:T34M	ENSP00000315417:T34M	T	+	2	0	ALX1	84198271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.605000	0.46283	2.562000	0.86427	0.650000	0.86243	ACG		TCGA-XD-AAUH-01A-42D-A40W-08	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	0	0	0	13	330	0	79		0	0	0	0	79	2		0	0	0	0	0	2	1	0.999531	14	326	0	78	2								-13.643090	1	1	121412	2	38	1	0	1	1	1.998579	0	0.100000	2	0.094112	0.750000	0.420000	1.000000	1.000000	0.764997	0.750000	0	0.570000	0.980000
TLN2	83660	broad.mit.edu	37	15	63054530	63054530	+	Silent	SNP	G	G	A	rs138708550		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:63054530G>A	ENST00000561311.1	+	38	5069	c.4839G>A	c.(4837-4839)tcG>tcA	p.S1613S	TLN2_ENST00000306829.6_Silent_p.S1613S|TLN2_ENST00000472902.1_Silent_p.S6S			Q9Y4G6	TLN2_HUMAN	talin 2			99					AGAGTTCATCGTACCTCATTC	0.542000																								0							SO:0001819	synonymous_variant			ENST00000561311.1	1	1	hg19	CCDS32261.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2	0	0	0	24	608	0	142	0	2.154476e-02	0	6	0	142	2		0	0	0	0	0	2	1	1.000000	23	602	0	137	2								-3.431150	1	1	121412	1	38	1	1	2	3	2.005477	0	0.100000	2	0.106700	0.790000	0.510000	1.000000	1.000000	0.803127	0.790000	0	0.630000	1.000000
SPESP1	246777	broad.mit.edu	37	15	69238075	69238075	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr15:69238075G>A	ENST00000310673.3	+	2	356	c.202G>A	c.(202-204)Gca>Aca	p.A68T	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000260364.5_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1			19					TTATTCTATAGCATCAAAGGG	0.368000																								0							SO:0001583	missense			ENST00000310673.3	1	1	hg19	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	6.226	0.409882	0.11812	.	.	ENSG00000258484	ENST00000310673	T	0.23147	1.92	5.21	-0.685	0.11328	.	1.519990	0.04196	N	0.329090	T	0.13713	0.0332	N	0.08118	0	0.09310	N	1	B	0.19817	0.039	B	0.23716	0.048	T	0.28681	-1.0036	10	0.40728	T	0.16	-1.6811	5.0363	0.14436	0.2807:0.2783:0.441:0.0	.	68	Q6UW49	SPESP_HUMAN	T	68	ENSP00000312284:A68T	ENSP00000312284:A68T	A	+	1	0	SPESP1	67025129	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.047000	0.14056	-0.013000	0.14199	-0.137000	0.14449	GCA		TCGA-XD-AAUH-01A-42D-A40W-08	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	0	0	0	13	366	1	80	0	0	0	1	1	80	2		0	0	0	0	0	2	1	0.999545	13	365	0	80	2								-12.933240	1	1	0	0		1	1	2	3	2.005477	0	0.100000	2	0.106700	0.730000	0.400000	1.000000	1.000000	0.748828	0.730000	0	0.540000	1.000000
MYH11	4629	broad.mit.edu	37	16	15931828	15931828	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:15931828C>T	ENST00000300036.5	-	2	391	c.282G>A	c.(280-282)acG>acA	p.T94T	MYH11_ENST00000576790.2_Silent_p.T94T|MYH11_ENST00000452625.2_Silent_p.T94T|MYH11_ENST00000396324.3_Silent_p.T94T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle			123					CGTTGAGGCACGTCAGCTCCG	0.547000			T	CBFB	AML										Dom	yes		16	16p13.13-p13.12	4629	myosin, heavy polypeptide 11, smooth muscle		L	0							SO:0001819	synonymous_variant			ENST00000300036.5	1	1	hg19	CCDS10565.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	0	0	0	16	414	0	91	0	8.558807e-01	0	92	0	91	2		0	0	0	0	0	2	1	0.999924	16	405	0	89	2								-3.685797	1	1	121412	1	31	1	1	2	3	2.023071	0	0.100000	2	0.110672	0.810000	0.460000	1.000000	1.000000	0.808204	0.810000	0	0.610000	1.000000
ATP2A1	487	broad.mit.edu	37	16	28909687	28909687	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:28909687G>A	ENST00000357084.3	+	14	1946	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	ATP2A1_ENST00000395503.4_Missense_Mutation_p.R560H|ATP2A1_ENST00000536376.1_Missense_Mutation_p.R435H	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1			38					GACACCCTGCGCTGCTTGGCC	0.637000																								0							SO:0001583	missense			ENST00000357084.3	1	1	hg19	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.006056	0.93287	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.94862	-3.54;-3.54;-3.54	5.43	4.46	0.54185	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98710	0.9567	H	0.99777	4.77	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.98994	1.0809	10	0.87932	D	0	.	15.1782	0.72931	0.0:0.142:0.858:0.0	.	435;560;560	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	H	560;560;597;435	ENSP00000349595:R560H;ENSP00000378879:R560H;ENSP00000443101:R435H	ENSP00000349595:R560H	R	+	2	0	ATP2A1	28817188	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.735000	0.98825	1.267000	0.44247	0.655000	0.94253	CGC		TCGA-XD-AAUH-01A-42D-A40W-08	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	1	0	0	12	233	0	41		0	0	0	0	41	2		0	0	0	0	0	2	1	0.999141	12	231	0	39	2								-14.013450	1	1	121410	1	31	1	1	3	4	2.036193	0	0.100000	2	0.181818	0.990000	0.600000	1.000000	1.000000	0.939077	0.990000	1	0.820000	1.000000
SETD1A	9739	broad.mit.edu	37	16	30978877	30978877	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:30978877G>A	ENST00000262519.8	+	10	3424	c.2738G>A	c.(2737-2739)cGt>cAt	p.R913H		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A			59					AAGAGGCCTCGTCCCTCCACT	0.557000																								0							SO:0001583	missense			ENST00000262519.8	1	1	hg19	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218472	0.79464	.	.	ENSG00000099381	ENST00000262519	T	0.57752	0.38	5.49	5.49	0.81192	.	0.142143	0.45867	D	0.000336	T	0.72187	0.3429	M	0.68593	2.085	0.52501	D	0.999954	D	0.89917	1.0	D	0.85130	0.997	T	0.73575	-0.3939	10	0.87932	D	0	.	18.3124	0.90204	0.0:0.0:1.0:0.0	.	913	O15047	SET1A_HUMAN	H	913	ENSP00000262519:R913H	ENSP00000262519:R913H	R	+	2	0	SETD1A	30886378	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	8.812000	0.91959	2.857000	0.98124	0.650000	0.86243	CGT		TCGA-XD-AAUH-01A-42D-A40W-08	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	0	0	0	23	462	1	124	1	5.733433e-01	7	76	1	124	4		0	0	0	0	0	2	1	0.945802	23	451	1	121	14								-3.315943	1	1	121412	1	30	1	1	2	3	2.009411	0	0.100000	2	0.107586	0.990000	0.630000	1.000000	1.000000	0.922207	0.990000	1	0.790000	1.000000
HEATR3	55027	broad.mit.edu	37	16	50128699	50128699	+	Missense_Mutation	SNP	T	T	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr16:50128699T>C	ENST00000299192.7	+	12	1785	c.1594T>C	c.(1594-1596)Tcc>Ccc	p.S532P	HEATR3_ENST00000285767.4_Missense_Mutation_p.S446P|HEATR3_ENST00000564942.1_3'UTR	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3			28					CAAGAACATTTCCCAGGTAAG	0.308000																								0							SO:0001583	missense			ENST00000299192.7	1	1	hg19	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.633940	0.29068	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.64260	-0.09;-0.09	5.92	3.27	0.37495	Armadillo-type fold (1);	0.267227	0.44902	N	0.000418	T	0.40196	0.1107	N	0.12746	0.255	0.32459	N	0.544366	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.0	T	0.36601	-0.9741	10	0.30854	T	0.27	.	9.138	0.36886	0.0:0.3849:0.0:0.6151	.	446;532	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	P	446;532	ENSP00000285767:S446P;ENSP00000299192:S532P	ENSP00000285767:S446P	S	+	1	0	HEATR3	48686200	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	0.500000	0.22562	0.324000	0.23333	0.533000	0.62120	TCC		TCGA-XD-AAUH-01A-42D-A40W-08	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256880.2	0	0	0	14	460	0	97	0	4.000499e-01	0	44	0	97	2		0	0	0	0	0	2	1	0.999727	14	451	0	96	2								-3.659411	1	1	0	0		1	1	2	3	2.009411	0	0.100000	2	0.107586	0.630000	0.350000	1.000000	0.590000	0.673044	0.630000	0	0.470000	0.950000
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	SO:0001583	missense	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ENST00000269305.4	0	1	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		TCGA-XD-AAUH-01A-42D-A40W-08	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	0	0	4	232	0	53	1	3.157887e-01	9	46	0	53	2	1	9.980583e-01	30	864	0	646	2	1	0.886033	4	227	0	53	2								-2.672102	1	1	121412	1	39	1	0	0	0	1.941209	0	0.100000	2	0.066390	0.350000	0.120000	0.730000	0.320000	0.380745	0.350000	0	0.210000	0.540000
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:17945947C>T	ENST00000527670.1	-	14	2021	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_ENST00000458235.1_Silent_p.P664P|JAK3_ENST00000534444.1_Silent_p.P664P			P52333	JAK3_HUMAN	Janus kinase 3			147				Tofacitinib(DB08895)	TGATGAAGGGCGGGCTCCCAT	0.637000		2	Mis		acute megakaryocytic leukemia, ETP ALL										Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0							SO:0001819	synonymous_variant			ENST00000527670.1	1	1	hg19	CCDS12366.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	1	0	0	10	192	0	31	0	3.104419e-01	0	21	0	31	2		0	0	0	0	0	2	1	0.996869	10	189	0	32	2								-3.309372	1	1	121412	6	37	1	0	1	1	1.998282	0	0.100000	2	0.094112	0.980000	0.510000	1.000000	1.000000	0.893074	0.980000	1	0.720000	1.000000
IZUMO1	284359	broad.mit.edu	37	19	49245081	49245081	+	Missense_Mutation	SNP	G	G	C			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr19:49245081G>C	ENST00000332955.2	-	8	1266	c.719C>G	c.(718-720)tCc>tGc	p.S240C	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1			17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)			GGCTGGGCTGGAATTCACAGA	0.607000																								0							SO:0001583	missense			ENST00000332955.2	0	1	hg19	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764786	0.69878	.	.	ENSG00000182264	ENST00000332955	D	0.84223	-1.82	5.26	-1.64	0.08318	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.688430	0.01088	N	0.005125	D	0.86594	0.5970	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	P	0.57468	0.821	T	0.76751	-0.2844	10	0.56958	D	0.05	0.0117	15.0773	0.72087	0.0:0.0:0.1984:0.8016	.	240	Q8IYV9	IZUM1_HUMAN	C	240	ENSP00000327786:S240C	ENSP00000327786:S240C	S	-	2	0	IZUMO1	53936893	0.000000	0.05858	0.000000	0.03702	0.245000	0.25701	-0.261000	0.08694	-0.282000	0.09128	0.561000	0.74099	TCC		TCGA-XD-AAUH-01A-42D-A40W-08	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1	0	0	0	8	182	0	31		0	0	0	0	31	2		0	0	0	0	0	2	1	0.988147	8	175	0	30	2								-10.591370	1	1	0	0		1	1	2	3	2.002937	0	0.100000	2	0.106256	0.910000	0.420000	1.000000	1.000000	0.845495	0.910000	1	0.630000	1.000000
SESN2	83667	broad.mit.edu	37	1	28595710	28595710	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr1:28595710G>A	ENST00000253063.3	+	2	428	c.107G>A	c.(106-108)cGg>cAg	p.R36Q		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2			27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)			AGGGAGAGCCGGGCTCGGCGA	0.557000																								0							SO:0001583	missense			ENST00000253063.3	1	1	hg19	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.436114	0.25813	.	.	ENSG00000130766	ENST00000253063	T	0.17054	2.3	5.38	2.31	0.28768	.	0.689341	0.14538	N	0.313426	T	0.05823	0.0152	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39418	-0.9615	10	0.08599	T	0.76	-16.7583	1.6538	0.02777	0.2294:0.3653:0.2696:0.1357	.	36	P58004	SESN2_HUMAN	Q	36	ENSP00000253063:R36Q	ENSP00000253063:R36Q	R	+	2	0	SESN2	28468297	0.000000	0.05858	0.629000	0.29254	0.872000	0.50106	0.514000	0.22786	0.616000	0.30141	0.655000	0.94253	CGG		TCGA-XD-AAUH-01A-42D-A40W-08	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1	0	0	0	11	318	0	76	0	8.001076e-03	0	4	0	76	2		0	0	0	0	0	2	1	0.997313	11	288	0	68	2								-2.370503	0	1	121394	3	42	1	0	0	0	1.957721	0	0.100000	2	0.075026	0.650000	0.350000	1.000000	1.000000	0.672658	0.650000	0	0.480000	0.860000
CRYZL1	9946	broad.mit.edu	37	21	34975784	34975784	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:34975784G>A	ENST00000381554.3	-	7	476	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000445393.1_Missense_Mutation_p.R93C|CRYZL1_ENST00000381540.3_Missense_Mutation_p.R131C|CRYZL1_ENST00000361534.2_Missense_Mutation_p.R155C|CRYZL1_ENST00000290244.5_Missense_Mutation_p.R116C	NM_145858.2	NP_665857.2	O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1			3					GTATAGGCACGCACTCCATCC	0.423000																								0							SO:0001583	missense			ENST00000381554.3	0	1	hg19	CCDS13633.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.583221|1.583221	0.28268|0.28268	.|.	.|.	ENSG00000205758|ENSG00000205758	ENST00000440526|ENST00000381554;ENST00000290244;ENST00000381540;ENST00000445393;ENST00000361534;ENST00000452332;ENST00000426935;ENST00000431177;ENST00000417979	.|T;T;T;T;T;T;T;T	.|0.40476	.|1.59;1.59;1.59;1.59;1.59;1.03;1.03;1.03	5.41|5.41	4.53|4.53	0.55603|0.55603	.|GroES-like (1);	.|0.269718	.|0.34676	.|N	.|0.003765	T|T	0.42291|0.42291	0.1196|0.1196	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22604	.|0.019;0.072	.|B;B	.|0.22601	.|0.036;0.04	T|T	0.39961|0.39961	-0.9588|-0.9588	5|10	.|0.72032	.|D	.|0.01	-14.8776|-14.8776	12.8285|12.8285	0.57733|0.57733	0.0797:0.0:0.9203:0.0|0.0797:0.0:0.9203:0.0	.|.	.|131;155	.|O95825;A6NHJ8	.|QORL1_HUMAN;.	V|C	74|131;116;131;93;155;131;79;131;79	.|ENSP00000370966:R131C;ENSP00000290244:R116C;ENSP00000370951:R131C;ENSP00000399730:R93C;ENSP00000355075:R155C;ENSP00000387660:R79C;ENSP00000405510:R131C;ENSP00000402844:R79C	.|ENSP00000290244:R116C	A|R	-|-	2|1	0|0	CRYZL1|CRYZL1	33897654|33897654	0.913000|0.913000	0.31002|0.31002	0.545000|0.545000	0.28153|0.28153	0.516000|0.516000	0.34256|0.34256	2.811000|2.811000	0.47986|0.47986	1.276000|1.276000	0.44395|0.44395	0.655000|0.655000	0.94253|0.94253	GCG|CGT		TCGA-XD-AAUH-01A-42D-A40W-08	CRYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141282.2	0	0	0	5	349	1	100	0	3.214975e-02	0	16	1	100	2		0	0	0	0	0	2	0	0.027566	6	343	1	97	14								-2.733975	1	1	121412	4	37	1	0	1	1	1.992862	0	0.100000	2	0.092742	0.300000	0.110000	0.600000	0.280000	0.325157	0.300000	0	0.190000	0.450000
DYRK1A	1859	broad.mit.edu	37	21	38884243	38884243	+	Silent	SNP	T	T	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr21:38884243T>A	ENST00000398960.2	+	11	1776	c.1701T>A	c.(1699-1701)ggT>ggA	p.G567G	DYRK1A_ENST00000339659.4_Silent_p.G558G|DYRK1A_ENST00000398956.2_Missense_Mutation_p.L526M|DYRK1A_ENST00000455387.2_Silent_p.G339G|DYRK1A_ENST00000338785.3_3'UTR	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A			42					CTCCTCTTGGTTGGTCAGGCA	0.428000													Melanoma(114;464 1602 31203 43785 45765)											0							SO:0001819	synonymous_variant			ENST00000398960.2	1	1	hg19	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	T	10.52	1.372020	0.24857	.	.	ENSG00000157540	ENST00000398956	T	0.57907	0.37	5.54	-3.43	0.04810	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.12142	-1.0559	8	0.40728	T	0.16	.	1.1146	0.01711	0.2244:0.3067:0.1152:0.3537	.	526	Q13627-3	.	M	526	ENSP00000381929:L526M	ENSP00000381929:L526M	L	+	1	2	DYRK1A	37806113	0.958000	0.32768	0.989000	0.46669	0.154000	0.21943	0.013000	0.13310	-0.443000	0.07180	-0.316000	0.08728	TTG		TCGA-XD-AAUH-01A-42D-A40W-08	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1	0	0	0	12	308	0	67	1	3.373776e-01	7	23	0	67	2		0	0	0	0	0	2	1	0.999040	12	301	0	67	2								-13.009270	1	1	0	0		1	0	1	1	1.992862	0	0.100000	2	0.092742	0.750000	0.410000	1.000000	1.000000	0.757359	0.750000	0	0.560000	0.970000
CNTNAP5	129684	broad.mit.edu	37	2	125192175	125192175	+	Missense_Mutation	SNP	A	A	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:125192175A>T	ENST00000431078.1	+	5	1008	c.644A>T	c.(643-645)gAt>gTt	p.D215V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5			176					ATGCAAGGAGATGGGGTCCTG	0.507000																								0							SO:0001583	missense			ENST00000431078.1	1	1	hg19	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.370207	0.82573	.	.	ENSG00000155052	ENST00000431078	T	0.80909	-1.43	5.48	5.48	0.80851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.49305	D	0.000151	D	0.91257	0.7244	M	0.90198	3.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93000	0.6422	10	0.87932	D	0	.	14.7735	0.69699	1.0:0.0:0.0:0.0	.	215	Q8WYK1	CNTP5_HUMAN	V	215	ENSP00000399013:D215V	ENSP00000399013:D215V	D	+	2	0	CNTNAP5	124908645	1.000000	0.71417	0.999000	0.59377	0.911000	0.54048	9.169000	0.94788	2.084000	0.62774	0.533000	0.62120	GAT		TCGA-XD-AAUH-01A-42D-A40W-08	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3	0	0	0	8	205	0	53		0	0	0	0	53	2		0	0	0	0	0	2	1	0.989367	8	203	0	53	2								-3.929229	1	1	0	0		1	1	2	3	2.010757	0	0.100000	2	0.108028	0.830000	0.380000	1.000000	1.000000	0.802473	0.830000	0	0.570000	1.000000
GEN1	348654	broad.mit.edu	37	2	17963200	17963200	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:17963200C>T	ENST00000381254.2	+	14	2935	c.2721C>T	c.(2719-2721)agC>agT	p.S907S	GEN1_ENST00000317402.7_Silent_p.S907S|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease			16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)				GATTCCAAAGCACTTGAAATT	0.348000								Homologous recombination																0							SO:0001819	synonymous_variant			ENST00000381254.2	0	1	hg19	CCDS1691.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241661.2	0	0	0	6	173	0	47	0	8.137784e-02	0	12	0	47	2		0	0	0	0	0	2	1	0.962615	6	168	0	46	2								-8.141538	1	1	0	0		1	1	2	3	2.003610	0	0.100000	2	0.106256	0.740000	0.300000	1.000000	1.000000	0.743132	0.740000	0	0.480000	1.000000
OTOF	9381	broad.mit.edu	37	2	26683776	26683776	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:26683776C>T	ENST00000272371.2	-	44	5782	c.5656G>A	c.(5656-5658)Gtc>Atc	p.V1886I	OTOF_ENST00000402415.3_Missense_Mutation_p.V1196I|OTOF_ENST00000339598.3_Missense_Mutation_p.V1119I|OTOF_ENST00000338581.6_Missense_Mutation_p.V1119I|OTOF_ENST00000403946.3_Missense_Mutation_p.V1886I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin			106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				CAGCCTTTGACGCGCTTTTGC	0.647000													GBM(102;732 1451 20652 24062 31372)											0							SO:0001583	missense			ENST00000272371.2	1	1	hg19	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	c	14.31	2.498530	0.44455	2.27E-4	0.0	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	4.73	3.85	0.44370	C2 calcium/lipid-binding domain, CaLB (1);	0.061467	0.64402	D	0.000005	T	0.65004	0.2650	L	0.35487	1.065	0.52501	D	0.999958	B;B;B;B	0.29909	0.261;0.042;0.036;0.018	B;B;B;B	0.22753	0.041;0.018;0.024;0.018	T	0.59695	-0.7406	10	0.26408	T	0.33	-24.5353	12.7675	0.57401	0.0:0.9189:0.0:0.0811	.	1886;1119;1196;1119	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	I	1119;1119;1196;1886;1886	ENSP00000345137:V1119I;ENSP00000344521:V1119I;ENSP00000383906:V1196I;ENSP00000272371:V1886I;ENSP00000385255:V1886I	ENSP00000272371:V1886I	V	-	1	0	OTOF	26537280	0.994000	0.37717	0.987000	0.45799	0.970000	0.65996	2.719000	0.47244	0.991000	0.38814	0.457000	0.33378	GTC		TCGA-XD-AAUH-01A-42D-A40W-08	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3	0	0	0	8	205	0	44		0	0	0	0	44	2		0	0	0	0	0	2	1	0.988041	8	197	0	41	2								-9.675513	1	1	0	0		1	1	2	3	2.003610	0	0.100000	2	0.106256	0.820000	0.370000	1.000000	1.000000	0.794860	0.820000	0	0.560000	1.000000
PLEKHH2	130271	broad.mit.edu	37	2	43939401	43939401	+	Missense_Mutation	SNP	A	A	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr2:43939401A>G	ENST00000282406.4	+	15	2449	c.2339A>G	c.(2338-2340)gAt>gGt	p.D780G		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2			56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			CTGACTGCAGATTCTCCCAAT	0.418000																								0							SO:0001583	missense			ENST00000282406.4	1	1	hg19	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.482238	0.84747	.	.	ENSG00000152527	ENST00000282406	T	0.14144	2.53	5.16	5.16	0.70880	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.43233	0.1238	M	0.87097	2.86	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.81914	0.953;0.995	T	0.51896	-0.8647	10	0.87932	D	0	-24.0949	14.981	0.71311	1.0:0.0:0.0:0.0	.	780;217	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	G	780	ENSP00000282406:D780G	ENSP00000282406:D780G	D	+	2	0	PLEKHH2	43792905	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.890000	0.92477	1.935000	0.56089	0.377000	0.23210	GAT		TCGA-XD-AAUH-01A-42D-A40W-08	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	0	0	0	12	344	0	110	0	1.301965e-02	0	5	0	110	2		0	0	0	0	0	2	1	0.999077	12	339	0	109	2								-12.584310	1	1	0	0		1	1	2	3	2.010757	0	0.100000	2	0.108028	0.730000	0.380000	1.000000	1.000000	0.747277	0.730000	0	0.530000	1.000000
LSAMP	4045	broad.mit.edu	37	3	115560805	115560805	+	Missense_Mutation	SNP	G	G	A	rs117984283	by1000genomes	TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:115560805G>A	ENST00000490035.2	-	6	1305	c.806C>T	c.(805-807)aCg>aTg	p.T269M	LSAMP_ENST00000498645.1_5'UTR|LSAMP_ENST00000539563.1_Missense_Mutation_p.T266M	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein			31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)			CTGGCCCTCCGTGCTCTTAAT	0.483000																								0							SO:0001583	missense			ENST00000490035.2	0	1	hg19	CCDS2982.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.98	2.991249	0.54041	0.0	1.16E-4	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.68624	-0.34;-0.34;-0.34	5.87	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.335564	0.33854	N	0.004494	T	0.69744	0.3145	L	0.46614	1.455	0.39182	D	0.96279	D;D	0.65815	0.995;0.995	P;P	0.55545	0.666;0.778	T	0.68269	-0.5453	10	0.33141	T	0.24	-5.6108	13.4795	0.61328	0.1018:0.0:0.8982:0.0	.	269;269	B2RCU8;Q13449	.;LSAMP_HUMAN	M	253;269;266	ENSP00000328455:T253M;ENSP00000419000:T269M;ENSP00000443429:T266M	ENSP00000328455:T253M	T	-	2	0	LSAMP	117043495	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	2.307000	0.43682	2.785000	0.95823	0.655000	0.94253	ACG		TCGA-XD-AAUH-01A-42D-A40W-08	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	0	0	0	5	221	0	56	0	3.091247e-01	0	43	0	56	2		0	0	0	0	0	2	1	0.934504	5	216	0	53	2								-3.191423	1	1	121412	3	38	1	1	2	3	2.000707	0	0.100000	2	0.105812	0.500000	0.180000	1.000000	1.000000	0.558793	0.500000	0	0.310000	0.850000
GATA2	2624	broad.mit.edu	37	3	128200008	128200008	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:128200008G>A	ENST00000341105.2	-	6	1628	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L	GATA2_ENST00000430265.2_Silent_p.L419L|GATA2_ENST00000487848.1_Silent_p.L433L|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2			79					TGTCCAGCCAGGGCAGCTGCA	0.617000			Mis		AML(CML blast transformation)										Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0							SO:0001819	synonymous_variant			ENST00000341105.2	0	1	hg19	CCDS3049.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356925.1	0	0	0	10	280	0	58	0	9.926587e-02	0	14	0	58	2		0	0	0	0	0	2	1	0.996742	9	276	0	53	2								-2.888201	1	1	0	0		1	1	2	3	2.000707	0	0.100000	2	0.105812	0.740000	0.370000	1.000000	1.000000	0.749466	0.740000	0	0.530000	1.000000
PTPRG	5793	broad.mit.edu	37	3	62257096	62257096	+	Missense_Mutation	SNP	G	G	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:62257096G>T	ENST00000474889.1	+	21	3425	c.3048G>T	c.(3046-3048)agG>agT	p.R1016S	PTPRG_ENST00000295874.10_Missense_Mutation_p.R987S|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G			62					AGAATGAAAGGGTAGTGATCC	0.478000																								0							SO:0001583	missense			ENST00000474889.1	1	1	hg19	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341750	0.61073	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.15017	2.46;2.46	5.74	2.67	0.31697	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	T	0.45175	0.1329	H	0.94582	3.555	0.44079	D	0.996834	P;D;D	0.69078	0.6;0.997;0.997	B;D;D	0.65010	0.382;0.931;0.922	T	0.40905	-0.9538	10	0.87932	D	0	.	6.245	0.20811	0.2928:0.0:0.567:0.1403	.	262;987;1016	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1016;987	ENSP00000418112:R1016S;ENSP00000295874:R987S	ENSP00000295874:R987S	R	+	3	2	PTPRG	62232136	0.062000	0.20869	0.021000	0.16686	0.953000	0.61014	0.448000	0.21726	0.299000	0.22661	0.591000	0.81541	AGG		TCGA-XD-AAUH-01A-42D-A40W-08	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	0	0	0	10	228	0	65	0	1.685431e-01	0	16	0	65	2		0	0	0	0	0	2	1	0.996181	10	216	0	64	2								-2.896817	1	1	0	0		1	1	2	3	2.000707	0	0.100000	2	0.105812	0.890000	0.450000	1.000000	1.000000	0.846998	0.890000	1	0.640000	1.000000
SRGAP3	9901	broad.mit.edu	37	3	9036070	9036070	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr3:9036070C>T	ENST00000383836.3	-	19	2792	c.2365G>A	c.(2365-2367)Gtg>Atg	p.V789M	SRGAP3_ENST00000360413.3_Missense_Mutation_p.V765M	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3		SRGAP3/RAF1(6)	54					AGTCCATCCACGCCGTTGTGC	0.577000			T	RAF1	pilocytic astrocytoma										Dom	yes		3	3p25.3	9901	SLIT-ROBO Rho GTPase activating protein 3		M	0							SO:0001583	missense			ENST00000383836.3	1	1	hg19	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461566	0.84317	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.48522	0.81;0.81	4.95	4.95	0.65309	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.57666	0.2069	L	0.31420	0.93	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.945	T	0.55560	-0.8122	10	0.34782	T	0.22	.	18.1343	0.89612	0.0:1.0:0.0:0.0	.	765;789	O43295-2;O43295	.;SRGP2_HUMAN	M	789;765	ENSP00000373347:V789M;ENSP00000353587:V765M	ENSP00000353587:V765M	V	-	1	0	SRGAP3	9011070	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.879000	0.63100	2.433000	0.82419	0.650000	0.86243	GTG		TCGA-XD-AAUH-01A-42D-A40W-08	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3	0	0	0	12	336	0	64	0	8.392423e-03	0	4	0	64	2		0	0	0	0	0	2	1	0.999009	12	327	0	62	2								-3.916487	1	1	121412	6	43	1	1	2	3	2.000707	0	0.100000	2	0.105812	0.730000	0.390000	1.000000	1.000000	0.747724	0.730000	0	0.540000	1.000000
ST8SIA4	7903	broad.mit.edu	37	5	100222206	100222206	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:100222206C>T	ENST00000231461.5	-	3	654	c.344G>A	c.(343-345)cGc>cAc	p.R115H	ST8SIA4_ENST00000451528.2_Missense_Mutation_p.R115H|ST8SIA4_ENST00000507360.2_5'UTR	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4			25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)			TAGTGTCCGGCGCCTGTCAAG	0.433000																								0							SO:0001583	missense			ENST00000231461.5	1	1	hg19	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.538956	0.27475	2.27E-4	0.0	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.31247	1.5;1.5	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	N	0.02916	-0.46	0.58432	D	0.999998	B	0.29115	0.233	B	0.20184	0.028	T	0.16541	-1.0399	10	0.02654	T	1	.	19.3049	0.94157	0.0:1.0:0.0:0.0	.	115	Q92187	SIA8D_HUMAN	H	115	ENSP00000231461:R115H;ENSP00000428914:R115H	ENSP00000231461:R115H	R	-	2	0	ST8SIA4	100250105	1.000000	0.71417	1.000000	0.80357	0.677000	0.39632	3.665000	0.54532	2.809000	0.96659	0.557000	0.71058	CGC		TCGA-XD-AAUH-01A-42D-A40W-08	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	0	0	0	10	361	0	119	0	6.553383e-02	0	14	0	119	2		0	0	0	0	0	2	1	0.996669	10	354	0	119	2								-2.810048	1	1	121412	3	38	1	1	2	3	2.010893	0	0.100000	2	0.108028	0.590000	0.290000	1.000000	0.540000	0.638706	0.590000	0	0.420000	0.970000
SLIT3	6586	broad.mit.edu	37	5	168310293	168310293	+	Silent	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:168310293G>A	ENST00000519560.1	-	5	881	c.462C>T	c.(460-462)cgC>cgT	p.R154R	SLIT3_ENST00000404867.3_Silent_p.R154R|SLIT3_ENST00000332966.8_Silent_p.R154R	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)			100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		CGGTGATGCCGCGGAACGCCT	0.502000													Ovarian(29;311 847 10864 17279 24903)											0							SO:0001819	synonymous_variant			ENST00000519560.1	1	1	hg19	CCDS4369.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	0	0	0	7	242	0	49	0	6.846996e-01	0	80	0	49	2		0	0	0	0	0	2	1	0.979893	7	238	0	47	2								-2.946364	1	1	121412	5	41	1	1	2	3	2.010893	0	0.100000	2	0.108028	0.630000	0.270000	1.000000	1.000000	0.668449	0.630000	0	0.420000	1.000000
RASGEF1C	255426	broad.mit.edu	37	5	179545648	179545648	+	Silent	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:179545648C>T	ENST00000393371.2	-	9	1340	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	RASGEF1C_ENST00000522500.1_Silent_p.A197A|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000361132.4_Silent_p.A348A			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C			12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		AGCGGTGGGCCGCCCCGCGCA	0.667000																								0							SO:0001819	synonymous_variant			ENST00000393371.2	1	1	hg19	CCDS4452.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	0	0	0	11	306	0	80	0	0	0	1	0	80	2		0	0	0	0	0	2	1	0.997956	11	292	0	72	2								-3.318794	1	1	121408	23	45	1	1	2	3	2.010893	0	0.100000	2	0.108028	0.750000	0.390000	1.000000	1.000000	0.763204	0.750000	0	0.540000	1.000000
AHRR	57491	broad.mit.edu	37	5	433019	433019	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr5:433019C>T	ENST00000505113.1	+	10	1125	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	AHRR_ENST00000316418.5_Missense_Mutation_p.R379W|AHRR_ENST00000512529.1_Missense_Mutation_p.R207W|AHRR_ENST00000506456.1_Missense_Mutation_p.R217W	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor			20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)		CCTGTGCCTCCGGGGTGGCCC	0.667000																								0							SO:0001583	missense			ENST00000505113.1	0	1	hg19	CCDS56355.1	.	.	.	.	.	.	.	.	.	.	C	9.825	1.186883	0.21870	0.0	1.21E-4	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.24151	2.19;2.19;1.87;1.87	3.9	-2.23	0.06930	.	0.377486	0.28504	N	0.015115	T	0.37758	0.1015	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.999;0.99;0.998	D;B;P	0.66497	0.944;0.425;0.788	T	0.18524	-1.0334	10	0.66056	D	0.02	.	6.5247	0.22295	0.3451:0.5411:0.1138:0.0	.	217;361;379	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	W	361;379;207;217	ENSP00000424601:R361W;ENSP00000323816:R379W;ENSP00000424880:R207W;ENSP00000426932:R217W	ENSP00000323816:R379W	R	+	1	2	AHRR	486019	0.326000	0.24669	0.058000	0.19502	0.059000	0.15707	0.369000	0.20416	-0.463000	0.06973	-0.321000	0.08615	CGG		TCGA-XD-AAUH-01A-42D-A40W-08	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367720.1	0	0	0	4	94	0	15		0	0	0	0	15	2		0	0	0	0	0	2	1	0.876377	4	88	0	14	2								-7.328148	1	1	120854	34	43	1	1	2	3	2.015171	0	0.100000	2	0.108911	0.950000	0.320000	1.000000	1.000000	0.830823	0.950000	1	0.560000	1.000000
HIVEP2	3097	broad.mit.edu	37	6	143091520	143091520	+	Missense_Mutation	SNP	C	C	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:143091520C>A	ENST00000367604.1	-	4	4995	c.4356G>T	c.(4354-4356)atG>atT	p.M1452I	HIVEP2_ENST00000367603.2_Missense_Mutation_p.M1452I|HIVEP2_ENST00000012134.2_Missense_Mutation_p.M1452I			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2			100					GCTTGGTTTCCATGAAGAGCT	0.512000													Esophageal Squamous(107;843 1510 13293 16805 42198)											0							SO:0001583	missense			ENST00000367604.1	0	1	hg19	CCDS43510.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641175	0.29157	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03065	4.06;4.06;4.06	5.81	5.81	0.92471	.	0.076260	0.85682	D	0.000000	T	0.04092	0.0114	M	0.70787	2.145	0.48901	D	0.999729	B	0.22683	0.073	B	0.15052	0.012	T	0.23440	-1.0188	10	0.49607	T	0.09	-19.6967	20.0826	0.97783	0.0:1.0:0.0:0.0	.	1452	P31629	ZEP2_HUMAN	I	1452	ENSP00000356576:M1452I;ENSP00000356575:M1452I;ENSP00000012134:M1452I	ENSP00000012134:M1452I	M	-	3	0	HIVEP2	143133213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.156000	0.42310	2.746000	0.94184	0.655000	0.94253	ATG		TCGA-XD-AAUH-01A-42D-A40W-08	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	0	0	0	7	254	0	64	0	1.274244e-01	0	20	0	64	2		0	0	0	0	0	2	1	0.979059	7	247	0	63	2								-2.898455	1	1	0	0		1	0	1	1	1.989457	0	0.100000	2	0.091826	0.550000	0.240000	0.990000	1.000000	0.576429	0.550000	0	0.370000	0.770000
THBS2	7058	broad.mit.edu	37	6	169622382	169622382	+	Silent	SNP	G	G	A	rs151152352		TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr6:169622382G>A	ENST00000366787.3	-	20	3432	c.3183C>T	c.(3181-3183)tcC>tcT	p.S1061S	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2			111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)			GGGACACGCCGGAGTAGCCAT	0.637000													Esophageal Squamous(91;219 1934 18562 44706)											0							SO:0001819	synonymous_variant			ENST00000366787.3	1	1	hg19	CCDS34574.1																																																																																				TCGA-XD-AAUH-01A-42D-A40W-08	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	1	0	0	9	115	0	32	0	9.956683e-01	0	129	0	32	2		0	0	0	0	0	2	1	0.990678	6	103	0	28	2								-3.077777	1	1	121404	4	36	1	0	1	1	1.989457	0	0.100000	2	0.091826	0.990000	0.690000	1.000000	1.000000	0.972497	0.990000	1	0.970000	1.000000
WDR60	55112	broad.mit.edu	37	7	158716310	158716310	+	Missense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:158716310G>A	ENST00000407559.3	+	17	2301	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60			35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)		ACTGTTTGCCGGAACAGCGCA	0.502000																								0							SO:0001583	missense			ENST00000407559.3	0	1	hg19	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.305740	0.23736	.	.	ENSG00000126870	ENST00000407559	D	0.86164	-2.08	5.19	5.19	0.71726	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94315	0.8173	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.954	D	0.95188	0.8305	10	0.87932	D	0	-33.8171	17.2998	0.87180	0.0:0.0:1.0:0.0	.	198;715	A4D230;Q8WVS4	.;WDR60_HUMAN	R	715	ENSP00000384290:G715R	ENSP00000384290:G715R	G	+	1	0	WDR60	158409071	1.000000	0.71417	0.187000	0.23214	0.081000	0.17604	7.228000	0.78079	2.407000	0.81776	0.655000	0.94253	GGA		TCGA-XD-AAUH-01A-42D-A40W-08	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	0	0	0	5	402	1	117	0	1.688636e-02	0	13	1	117	2		0	0	0	0	0	2	0	0.043790	6	397	1	115	13								-1.861523	0	1	121302	3	39	1	1	2	3	2.006724	0	0.100000	2	0.107143	0.290000	0.100000	1.000000	0.240000	0.379020	0.290000	0	0.170000	0.530000
DNAH11	8701	broad.mit.edu	37	7	21631113	21631113	+	Missense_Mutation	SNP	C	C	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:21631113C>T	ENST00000409508.3	+	14	2616	c.2585C>T	c.(2584-2586)aCc>aTc	p.T862I	DNAH11_ENST00000328843.6_Missense_Mutation_p.T862I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11			230					GCAGCCTTCACCTTGGAGGAC	0.502000									Kartagener syndrome															0							SO:0001583	missense	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	ENST00000409508.3	1	1	hg19		.	.	.	.	.	.	.	.	.	.	C	1.792	-0.479214	0.04383	.	.	ENSG00000105877	ENST00000328843	T	0.23754	1.89	5.63	-1.61	0.08399	.	1.431370	0.03866	N	0.274805	T	0.13243	0.0321	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.20306	-1.0279	9	0.30854	T	0.27	.	0.9212	0.01315	0.1893:0.2843:0.2844:0.242	.	862	Q96DT5	DYH11_HUMAN	I	862	ENSP00000330671:T862I	ENSP00000330671:T862I	T	+	2	0	DNAH11	21597638	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-0.302000	0.08221	-0.000000	0.14550	0.561000	0.74099	ACC		TCGA-XD-AAUH-01A-42D-A40W-08	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	0	0	0	9	183	0	38		0	0	0	0	38	2		0	0	0	0	0	2	1	0.994286	9	181	0	38	2								-11.758290	1	1	0	0		1	1	2	3	2.006724	0	0.100000	2	0.107143	0.990000	0.490000	1.000000	1.000000	0.892330	0.990000	1	0.710000	1.000000
INHBA	3624	broad.mit.edu	37	7	41729994	41729994	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:41729994G>A	ENST00000242208.4	-	3	781	c.535C>T	c.(535-537)Cag>Tag	p.Q179*	INHBA_ENST00000442711.1_Nonsense_Mutation_p.Q179*|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A			55					GGGTGCTTCTGCTGCTGGAAG	0.562000										TSP Lung(11;0.080)														0							SO:0001587	stop_gained			ENST00000242208.4	0	1	hg19	CCDS5464.1	.	.	.	.	.	.	.	.	.	.	.	38	6.897179	0.97920	.	.	ENSG00000122641	ENST00000242208;ENST00000442711	.	.	.	5.81	5.81	0.92471	.	0.554170	0.20607	N	0.089047	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-18.9698	20.0699	0.97718	0.0:0.0:1.0:0.0	.	.	.	.	X	179	.	ENSP00000242208:Q179X	Q	-	1	0	INHBA	41696519	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.018000	0.70811	2.741000	0.93983	0.655000	0.94253	CAG		TCGA-XD-AAUH-01A-42D-A40W-08	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1	0	0	0	20	299	1	53	0	1.382458e-01	0	30	1	53	4		0	0	0	0	0	2	1	0.605908	20	294	1	53	19								-6.117271	1	1	0	0		1	1	2	3	2.006724	0	0.100000	2	0.107143	0.990000	0.810000	1.000000	1.000000	0.986321	0.990000	1	0.990000	1.000000
GLI3	2737	broad.mit.edu	37	7	42188061	42188061	+	Missense_Mutation	SNP	T	T	A			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:42188061T>A	ENST00000395925.3	-	3	215	c.131A>T	c.(130-132)gAa>gTa	p.E44V	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3			112					TCCAGGACTTTCATCCTCTAA	0.403000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly															0							SO:0001583	missense	Familial Cancer Database	;	ENST00000395925.3	0	1	hg19	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405126	0.83230	.	.	ENSG00000106571	ENST00000395925;ENST00000448703	T	0.17854	2.25	5.67	5.67	0.87782	.	0.101413	0.64402	D	0.000003	T	0.27559	0.0677	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.63488	0.915	T	0.04281	-1.0963	10	0.87932	D	0	.	15.9002	0.79369	0.0:0.0:0.0:1.0	.	44	P10071	GLI3_HUMAN	V	44	ENSP00000379258:E44V	ENSP00000379258:E44V	E	-	2	0	GLI3	42154586	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.669000	0.83911	2.161000	0.67846	0.455000	0.32223	GAA		TCGA-XD-AAUH-01A-42D-A40W-08	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	0	0	7	262	0	76	0	9.073454e-03	0	5	0	76	2		0	0	0	0	0	2	1	0.980472	7	260	0	74	2								-3.267079	1	1	0	0		1	1	2	3	2.006724	0	0.100000	2	0.107143	0.580000	0.250000	1.000000	1.000000	0.626844	0.580000	0	0.390000	0.970000
FGL2	10875	broad.mit.edu	37	7	76825927	76825927	+	Nonsense_Mutation	SNP	A	A	T			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr7:76825927A>T	ENST00000248598.5	-	2	1021	c.989T>A	c.(988-990)tTa>tAa	p.L330*	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2			13					ACCAACGTGTAAACGATATTT	0.358000																								0							SO:0001587	stop_gained			ENST00000248598.5	0	1	hg19	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431927	0.62844	.	.	ENSG00000127951	ENST00000248598	.	.	.	6.03	6.03	0.97812	.	0.131312	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.2196	0.82251	1.0:0.0:0.0:0.0	.	.	.	.	X	330	.	ENSP00000248598:L330X	L	-	2	0	FGL2	76663863	0.982000	0.34865	0.023000	0.16930	0.381000	0.30169	8.962000	0.93254	2.308000	0.77769	0.533000	0.62120	TTA		TCGA-XD-AAUH-01A-42D-A40W-08	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	0	0	0	13	417	0	86	0	5.033988e-01	0	53	0	86	2		0	0	0	0	0	2	1	0.999519	13	413	0	84	2								-12.642690	1	1	0	0		1	1	2	3	2.006724	0	0.100000	2	0.107143	0.650000	0.350000	1.000000	1.000000	0.683786	0.650000	0	0.480000	0.960000
SMC5	23137	broad.mit.edu	37	9	72920223	72920223	+	Missense_Mutation	SNP	T	T	G			TCGA-XD-AAUH-01A-42D-A40W-08	TCGA-XD-AAUH-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c621b8f6-52ba-4ade-8ec0-247177d8356d	6f74fb89-bab6-4032-9747-1bc144399e91	g.chr9:72920223T>G	ENST00000361138.5	+	11	1583	c.1525T>G	c.(1525-1527)Tta>Gta	p.L509V		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5			35					ATCAAATGACTTAAGAGCCTT	0.308000																								0							SO:0001583	missense			ENST00000361138.5	1	1	hg19	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.642987	0.67244	.	.	ENSG00000198887	ENST00000361138	T	0.26373	1.74	5.36	1.43	0.22495	RecF/RecN/SMC (1);	0.151160	0.43919	D	0.000502	T	0.27559	0.0677	M	0.61703	1.905	0.45883	D	0.998735	D	0.54207	0.965	P	0.48770	0.589	T	0.05241	-1.0897	10	0.62326	D	0.03	-7.6654	3.9845	0.09509	0.2939:0.1765:0.0:0.5296	.	509	Q8IY18	SMC5_HUMAN	V	509	ENSP00000354957:L509V	ENSP00000354957:L509V	L	+	1	2	SMC5	72110043	0.334000	0.24739	1.000000	0.80357	0.997000	0.91878	0.231000	0.17872	0.877000	0.35895	0.533000	0.62120	TTA		TCGA-XD-AAUH-01A-42D-A40W-08	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	0	0	0	13	376	0	105	0	6.882822e-02	0	12	0	105	2		0	0	0	0	0	2	1	0.999512	13	371	0	103	2								-3.687590	1	1	0	0		1	1	2	3	2.006267	0	0.100000	2	0.107143	0.710000	0.390000	1.000000	1.000000	0.737104	0.710000	0	0.530000	1.000000